2-propanol has been researched along with Coloboma in 372 studies
2-Propanol: An isomer of 1-PROPANOL. It is a colorless liquid having disinfectant properties. It is used in the manufacture of acetone and its derivatives and as a solvent. Topically, it is used as an antiseptic.
propan-2-ol : A secondary alcohol that is propane in which one of the hydrogens attached to the central carbon is substituted by a hydroxy group.
Coloboma: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome." | 8.75 | [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975) |
| "We report a 5 1/2-year-old girl whose clinical symptoms are consistent with diagnosis of the cat-eye syndrome." | 4.75 | [Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)]. ( Kunze, J; Tolksdorf, M; Wiedemann, HR, 1975) |
| "Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder." | 2.72 | Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. ( Kosaki, K; Miyama, S; Sakaguchi, Y; Takenouchi, T; Uehara, T; Yoshihashi, H, 2021) |
| "We report a patient with clinical anophthalmia, partial eyelid fusion and a hypoplastic socket on the right." | 2.48 | Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review. ( Aaberg, TM; Droste, PJ; Hassan, AS; Pearce, ZD, 2012) |
| "Mild to moderate mental retardation was found in 32% (16/50) of the cases." | 2.41 | Phenotypic variability of Cat-Eye syndrome. ( Berends, MJ; Leegte, B; Tan-Sindhunata, G; van Essen, AJ, 2001) |
| "A total of 21 cases (21 eyes) with iris coloboma or traumatic iris defects who underwent C-pupilloplasty (a single-pass three-throw technique) from Feb." | 1.91 | A novel pupilloplasty in crescent-shaped suturing pattern for coloboma and traumatic iris defects. ( Cao, W; Kang, Q; Liu, Y; Qi, W; Wang, M; Yang, Y; Yao, X; Zhou, X; Zhu, F, 2023) |
| "Syndromic microphthalmia 15 (MCOPS15) is characterized by microphthalmia, coloboma, and developmental delay." | 1.72 | Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient. ( Gu, W; Huang, Y; Xu, K; Zhou, Y, 2022) |
| "Congenital iris colobomas do not usually present a major optical issue until the time of cataract surgery, when an intraocular lens is placed in the eye that is roughly half the diameter of the crystalline lens." | 1.62 | Congenital iris coloboma repair with excision of colobomatous sphincter muscle. ( Ogawa, GSH, 2021) |
| "The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al." | 1.48 | New ocular finding in Baraitser-Winter syndrome (BWS). ( Daroca, J; Gomez, R; Lacassie, Y; Leon, A; Rall, N, 2018) |
| "Congenital ocular colobomas are due to incomplete closure of the fetal fissure during organogenesis." | 1.48 | [Bilateral iris coloboma]. ( Zerkaoui, N, 2018) |
| "In comparison to normal eyes, the colobomatous eyes were statistically found to have lower keratometry values in diopters (43." | 1.46 | Evaluations of Corneas in Eyes with Isolated Iris Coloboma. ( Arifoğlu, HB; Duru, N; Karatepe Haşhaş, AS; Ulusoy, DM; Yüce, Y; Zararsız, G, 2017) |
| "Kranenburg's syndrome is defined as central serous detachment associated with an optic disc pit." | 1.46 | [Optic disc pit-associated maculopathy and iris-retinochoroidal-coloboma - a rare combination]. ( Feltgen, N; Hoerauf, H; Storch, M, 2017) |
| "Coloboma is a term used to denote a partial or complete absence of specific ocular tissues." | 1.43 | Phacoemulsification with pupilloplasty in a patient with congenital cataract and iris colohoma - case report. ( Loba, P; Wilcynski, M, 2016) |
| "Persistent fetal vasculature and fundal coloboma are important congenital vitreoretinal disorders that can severely affect a child's visual acuity." | 1.43 | A case of iridofundal coloboma with persistent fetal vasculature and lens subluxation. ( Agrawal, R; Chandra, P; Kumar, V; Takkar, B, 2016) |
| "PurposeAicardi syndrome is a rare disorder, affecting ~1 in 100 000 live births." | 1.43 | A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings. ( McKee, S; McLoone, E; O'Keefe, M; Shirley, K, 2016) |
| "Marfan syndrome is a disorder of increased TGFβ signaling, and recent work in the mouse model suggests a role for TGFβ signaling in eye development and coloboma formation, suggesting a causal association between Marfan syndrome and coloboma." | 1.40 | Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling. ( Barnett, CP; LeBlanc, SK; Morris, S; Taranath, D, 2014) |
| "A distinct type of cataract, called "coloboma cataract" (characterized by linear opacity in the region of the coloboma), was observed in 29% of cases." | 1.40 | Lenticular changes in congenital iridolenticular choroidal coloboma. ( Chaurasia, S; Jalali, S; Mohamed, A; Ramappa, M; Sangwan, VS, 2014) |
| "Complete iridal coloboma was present in 37% of eyes." | 1.39 | Ocular phenotype of Fbn2-null mice. ( Bassnett, S; Mecham, RP; Shi, Y; Tu, Y, 2013) |
| "The lens coloboma was from 1 to 8 o'clock and from 5 to 9 o'clock positions in right and left eye, respectively." | 1.39 | Iris retractors: the saviours in cataract surgery for cataract in lens coloboma. ( Gurunadh, VS; Sangwan, VS; Sati, A; Shankar, S, 2013) |
| "Autosomal dominant microphthalmia with late-onset keratitis and iris coloboma/aniridia has not been reported before." | 1.38 | Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation. ( Li, S; Xiao, X; Zhang, Q, 2012) |
| "This suggests involvement of other coloboma genes." | 1.37 | PAX6 gene analysis in irido-fundal coloboma. ( Dada, R; Garg, S; Insaan, R; Kumar, K; Naithani, P; Tanwar, M; Venkatesh, P, 2011) |
| "Lens coloboma is a rare congenital disorder of crystalline lens characterized by notching of the equator of the lens." | 1.37 | Lens coloboma and associated ocular malformations. ( Hu, Z; Li, J; Ma, X, 2011) |
| "Seventy-five percent of the colobomata were atypical, showing a nasal superior location in 56%." | 1.35 | A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. ( Abouzeid, H; Bolay, S; ElShakankiri, N; Meire, FM; Munier, FL; Osman, I; Schorderet, DF, 2009) |
| "Here we report a case of spina bifida with associated ocular anomalies and review the literature of previous spina bifida cases with ocular manifestations." | 1.35 | A case of spina bifida with ocular manifestations. ( Bozkurt, E; Cakir, M; Demirkale, HI; Demirok, A; Kara, N; Yazici, AT; Yilmaz, OF, 2009) |
| "The results remind us that ocular coloboma may be accompanied by arachnoid cyst and may be associated with SOX2 mutation, which will be helpful for improving diagnosis and patient care." | 1.35 | Novel SOX2 mutation associated with ocular coloboma in a Chinese family. ( Liang, X; Wang, P; Yi, J; Zhang, Q, 2008) |
| "Iris coloboma is particularly important in terms of perinatal diagnosis because its detection in the newborn requires a careful and regular examination of the lens." | 1.34 | New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. ( Beby, F; Bozon, M; Commeaux, C; Denis, P; Edery, P; Morlé, L, 2007) |
| "Of 46 cases, 40 were affected with iris coloboma and 19 had bilateral manifestation." | 1.33 | A population-based case-control study of isolated ocular coloboma. ( Czeizel, AE; Puhó, E; Vogt, G, 2005) |
| "Congenital iris coloboma repair using the same incision is difficult but provides good cosmetic and functional results." | 1.33 | [Phacoemulsification of intumescent cataract, IOL implantation and reconstruction of congenital iris coloboma through one anterior chamber superior opening. Case report]. ( Jurowski, P, 2005) |
| "The syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988." | 1.33 | The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature. ( Al-Kindi, A; Ganesh, A; Jain, R; Raeburn, S, 2005) |
| "In patients with congenital iris coloboma, phacoemulsification with in-the-bag IOL implantation followed by this pupilloplasty technique was effective in providing functional and cosmetic repair of a congenital iris coloboma." | 1.33 | Surgical technique for congenital iris coloboma repair. ( Cionni, RJ; Karatza, EC; Osher, RH; Shah, M, 2006) |
| "All four infants had inferonasal iris colobomas with unilateral inferonasal cataracts, primarily involving the posterior lens surface." | 1.33 | Clinical ocular abnormalities in infants with trisomy 13. ( Lueder, GT, 2006) |
| "Bilateral iris coloboma in the 6 o'clock position was present in one patient." | 1.32 | Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family. ( Balmer, A; Black, GC; Farrar, N; Jamieson, RV; Munier, F; Perveen, R, 2003) |
| "To report a repair of congenital iris coloboma using a modified McCannel suture technique." | 1.32 | Congenital iris coloboma repair using a modified McCannel suture technique. ( Blackmon, DM; Lambert, SR, 2003) |
| "Chylothorax and colobomas are uncommon features reported in Noonan syndrome." | 1.32 | Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant. ( Alves, VV; Carvalho, DR; Minaré-Júnior, A; Peres, LC; Pina-Neto, JM; Ramos, ES, 2003) |
| "A girl with coloboma of the iris, sensorineural deafness, growth delay, distinctive face, and cranial nerve dysfunction was diagnosed of CHARGE association in the first year of life." | 1.32 | Hyper-IgM syndrome with CHARGE association. ( Aragón, P; Bahillo, P; Cambronero, R; Cantero, T; Gómez, S; Solís, P, 2003) |
| "The choroidal coloboma is a congenital malformation that results from an anomaly of the embryonic fissure." | 1.32 | [Association of choroidal coloboma, congenital hypertrophy of retinal pigmented epithelium and familial adenomatous polyposis: case report]. ( El Moussaif, H; Kermane, A; Mohcine, Z; Tachfouti, S, 2004) |
| "PHACE Syndrome is a neurocutaneous disease spectrum encompassing the following features: Posterior fossa brain malformations, large facial Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities." | 1.32 | PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect. ( Balashanmugan, A; Lasky, JB; Sandu, M, 2004) |
| "No SPF chicks developed colobomas of the iris, while 37% of the bantams in the same hatch were affected." | 1.32 | Colobomas of the iris in a flock of rosecomb bantam chickens. ( Cardona, CJ; Plumer, K, 2004) |
| "The association of moderate mental retardation, behavioural problems, macrocephaly, dysmorphic features with iris coloboma, and supernumerary nipples was observed in two brothers with a terminal deletion 4q33-->4qter and a terminal duplication 7q34-->7qter." | 1.32 | Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma. ( Driessen, SD; Engelen, JJ; Fryns, JP; Moog, U; van Schrojenstein Lantman-de Valk, HM, 2003) |
| "We report five cases of complex microphthalmia with other ocular malformations in infants or children, which were evaluated to investigate the relationship between the corneal diameters and total axial length." | 1.31 | Five cases of microphthalmia with other ocular malformations. ( Choi, HY; Kim, HJ; Lee, JE; Lee, JS; Oum, BS; Shin, YG, 2001) |
| "Iris abnormalities are rare in tuberous sclerosis complex and include focal areas of stromal depigmentation and atypical colobomata." | 1.31 | Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex. ( Eagle, RC; Shields, CL; Shields, JA; Wood, MG, 2000) |
| "Ocular manifestations such as coloboma of the iris, the retina and the choroid have not been reported so far." | 1.31 | [LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)]. ( Boergen, KP; Haritoglou, C; Kalpadakis, P; Meitinger, T; Rudolph, G, 2001) |
| "It is concluded that iris and retinal colobomas could be a rare feature of Noonan sydrome." | 1.31 | Mild Noonan phenotype associated with coloboma of the iris and choroid. ( Friedrich, U; Gravholt, CH; Warburg, M, 2002) |
| "Six retinal detachments were found in four patients." | 1.30 | Chorioretinal colobomas in a pediatric population. ( Daufenbach, DR; Keech, RV; Pulido, JS; Ruttum, MS, 1998) |
| "5 microM) for BR and MR, respectively, and did not increase in a dose-response test." | 1.30 | Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis. ( Beck, S; Biesalski, HK; Frank, J; Gielen, S; Gollnick, H; Seeliger, MW; Wissinger, B; Zrenner, E, 1999) |
| "A 17-year-old female with Goltz's syndrome was examined because of visual acuity loss in her right eye." | 1.30 | Focal dermal hypoplasia (Goltz's syndrome). ( Erden, I; Günalp, I; Gündüz, K, 1997) |
| "A case is reported in which large colobomas of the retina and choroid are found bilaterally in a young female who also has a pituitary tumor and mental retardation." | 1.29 | Systemic abnormalities associated with iris/nerve head/choroidal/retinal coloboma. ( Williams, TD, 1996) |
| "High myopia was more common in the less severe anomalies." | 1.29 | Optic disc in fundus coloboma. ( Badrinath, SS; Biswas, N; Doshi, G; Gopal, L; Kumar, KS, 1996) |
| "To highlight the association of colobomatous microphthalmos with blepharophimosis syndrome." | 1.29 | Blepharophimosis syndrome: association with colobomatous microphthalmos. ( Lee, LR; Sullivan, TJ, 1995) |
| "We report five cases of lens coloboma and localized zonular defect without any associated systemic anomalies." | 1.29 | Congenital lens coloboma and associated pathologies. ( Bavbek, T; Kazokoglu, H; Ogüt, MS, 1993) |
| "One child had an iris coloboma." | 1.29 | Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? ( Barrow, M; Donnai, D, 1993) |
| "Typical isolated ocular coloboma is a congenital abnormality caused by a defective closure of the embryonic fissure of the optic cup." | 1.29 | Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism? ( Barros-Nuñez, P; Garcia-Cruz, D; Medina, C; Mendoza, R; Sanchez-Corona, J, 1995) |
| "We report the presence of simple iris coloboma in 4 out of 5 female members comprising four generations of a Greek family." | 1.29 | Simple iris coloboma in a Greek family. ( Bufidis, T; Kardasopoulos, A; Konstas, AG, 1996) |
| "An infant is described with coloboma of the right eye, holoprosencephaly and diabetes insipidus without craniofacial malformations." | 1.28 | Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report. ( Casaer, P; de Vries, LS; de Zegher, F; Devlieger, H; Eggermont, E; Van Gool, S; Vanderschueren-Lodeweyckx, M, 1990) |
| "The retinal break was always inside the colobomatous area, except in the cases with evidence of peripheral retinal breaks." | 1.28 | Surgical treatment of retinal detachment in the choroidal colobomas. ( Corcostegui, B; García-Arumí, J; Güell, JL, 1992) |
| "The left eye was microphthalmic with a coloboma of the uveal tract and retina." | 1.28 | Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body. ( Davidorf, FH; Makley, TA; Mauger, TF; Rogers, GL, 1992) |
| "We found bilateral colobomas of the iris, choroid, retina, and optic nerve head in a son, mother, and grandmother in one pedigree." | 1.28 | Typical ocular coloboma affects three generations in one family. ( Furuse, N; Hayasaka, S; Noda, S; Setogawa, T, 1992) |
| "Two had bilateral anophthalmia, the optic nerves not detectable by computed cranial tomography and magnetic resonance imaging, and the third child had bilateral microphthalmia and coloboma iridis." | 1.28 | New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders. ( Bierich, JR; Christie, M; Heinrich, JJ; Martinez, AS, 1991) |
| "We report a male infant with iris coloboma, choanal atresia, postnatal retardation of growth and psychomotor development, genital anomaly, ear anomaly, and anal atresia." | 1.28 | Limb anomalies in the CHARGE association. ( Meinecke, P; Polke, A; Schmiegelow, P, 1989) |
| "Patients with ocular coloboma and its variants may exhibit notching of the iris, peripapillary staphylomas, crater-like excavation of the optic disc, funnel-shaped widening of the retrobulbar optic nerve, cup-shaped filling defects in the perioptic subarchnoid space, and concurrent anomalies of the face, skull, and brain." | 1.27 | Congenital optic nerve colobomas: CT demonstration. ( Gardner, TW; Naidich, TP; Zaparackas, ZG, 1984) |
| "Association of imperforate anus and Hirschsprung's disease is rare, the incidence of both events occurring together would be one child out of every 25 million live births." | 1.27 | Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature. ( Mahboubi, S; Templeton, JM, 1984) |
| "Cat's eye syndrome is a very rare disease with many congenital anomalies." | 1.27 | Cat's eye syndrome with cleft soft palate. ( Nakamura, K, 1985) |
| "In addition to acronymic features of Coloboma, Heart disease, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetency." | 1.27 | The spectrum of clinical features in CHARGE syndrome. ( Davenport, SL; Hefner, MA; Mitchell, JA, 1986) |
| "Two of the children, one with a coloboma and one without, are from the same consanguineous pedigree." | 1.27 | Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. ( Brett, EM; Hurst, JA; Kumar, D; Markiewicz, M, 1988) |
| "The child has mild developmental delay, coloboma of the right eye, and Hirschsprung's disease." | 1.27 | Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22). ( Campbell, NT; Keith, CG; Webb, GC, 1988) |
| "Partial coloboma, observed only with transillumination techniques, occur in 16% of male patients diagnosed with Kallmann syndrome." | 1.27 | Ophthalmic midline dysgenesis in Kallmann syndrome. ( Currie, J; Jaffe, MJ; Schwankhaus, JD; Sherins, RJ, 1987) |
| "In the brother there is an incomplete coloboma of the optic nerve head, in the sister a coloboma of the iris, optic nerve head, choroid, and retina." | 1.27 | [Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome]. ( Mayer, U; Pfeiffer, RA, 1987) |
| "The coexistence of iris coloboma and aniridia-like corneal changes may imply that ocular coloboma and aniridia comprise a continuous spectrum of the same developmental defect or, alternatively, such corneal changes constitute a nonspecific manifestation of iris developmental defects in general." | 1.27 | Corneal changes in familial iris coloboma. ( Raizman, MB; Soong, HK, 1986) |
| "The authors describe a family showing coloboma of the optic nerve associated with chorioretinal coloboma and coloboma of the iris." | 1.27 | Hereditary colobomatous anomalies of the optic nerve head. ( Alfieri, MC; Greco, A; Magli, A; Pignalosa, B, 1986) |
| "Ocular coloboma as an isolated anomaly often is inherited as an autosomal dominant trait." | 1.26 | Possible autosomal-recessive ocular coloboma. ( Kalina, RE; Lechner, DJ; Pagon, RA, 1981) |
| "Microphthalmia with coloboma behaves as an incompletely penetrant recessive trait in the merle Australian Shepherd dog." | 1.26 | Inheritance of microphthalmia with coloboma in the Australian shepherd dog. ( Gelatt, KN; Huston, K; Powell, NG, 1981) |
| "The first child had a large basal encephalocele, agenesis of the corpus callosum, mild optic atrophy in one eye, a retinal pigment epithelial defect in the other eye and bitemporal hemianopia; the second child had septo-optic dysplasia and the third child had Rieger's anomaly." | 1.26 | Ocular defects and short stature. ( Guyda, HJ; Little, JM; Polomeno, RC; Staudenmaier, C, 1980) |
| "The terms 'partial trisomy 22 syndrome' and 'trisomy 22 syndrome' should be used instead." | 1.26 | Trisomy 22 with 'cat eye' anomaly. ( Cervenka, J; Franciosi, RA; Gorlin, RJ; Hansen, CA, 1977) |
| "A kitten with a unilateral, congenital coloboma of the iris was raised in a normal environment and sacrificed at 6 monthlicted eye was seen in Nissl-stained sections taken through the lateral geniculate." | 1.26 | Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat. ( Richards, W, 1977) |
| "At first a coloboma of the disc was suspected." | 1.26 | [Tuberous sclerosis with megalocornea and coloboma of the iris (author's transl)]. ( Latta, E; Welge-Lüssen, L, 1976) |
| "A male infant with bilateral iris coloboma who had had repeated infections and malabsorption was studied." | 1.26 | Suppressor cell activity in a male infant with T-and B-lymphocyte dysfunction treated with thymosin. ( Carlsson, B; Fälström, SP; Fasth, A; Hanson, LA; Lindholm, L; Värendh, G; Wadsworth, C, 1976) |
| "Ophthalmological examination revealed microphthalmia, bilateral colobomas of iris, leukoma of the right eye, convergent strabismus in the left eye." | 1.26 | [Double optic papilla in eye coloboma (author's transl)]. ( Junge, J, 1978) |
| "An association of ocular colobomata and congenital heart disease was observed in seven patients." | 1.25 | Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs. ( Ho, CK; Kaufman, RL; Podos, SM, 1975) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 200 (53.76) | 18.7374 |
| 1990's | 52 (13.98) | 18.2507 |
| 2000's | 53 (14.25) | 29.6817 |
| 2010's | 51 (13.71) | 24.3611 |
| 2020's | 16 (4.30) | 2.80 |
| Authors | Studies |
|---|---|
| Zhou, Y | 1 |
| Xu, K | 1 |
| Gu, W | 1 |
| Huang, Y | 1 |
| Parakh, S | 1 |
| Das, S | 1 |
| Maheshwari, S | 1 |
| Luthra, G | 1 |
| Luthra, S | 1 |
| Babalola, YO | 1 |
| Franco, JJ | 1 |
| Pineda, R | 1 |
| Yao, X | 1 |
| Kang, Q | 1 |
| Qi, W | 1 |
| Liu, Y | 1 |
| Zhou, X | 1 |
| Wang, M | 1 |
| Yang, Y | 1 |
| Zhu, F | 1 |
| Cao, W | 1 |
| Banerjee, M | 1 |
| Sharma, V | 2 |
| Azad, SV | 2 |
| Kapil, D | 1 |
| Jedlickova, J | 1 |
| Vajter, M | 1 |
| Barta, T | 1 |
| Black, GCM | 1 |
| Perveen, R | 2 |
| Mares, J | 1 |
| Fichtl, M | 1 |
| Kousal, B | 1 |
| Dudakova, L | 1 |
| Liskova, P | 1 |
| Kumar, N | 1 |
| Valliappan, A | 1 |
| Bansal, R | 1 |
| Gupta, S | 1 |
| Sethi, HS | 2 |
| Naik, M | 1 |
| Ogawa, GSH | 2 |
| Bacci, GM | 1 |
| Polizzi, S | 1 |
| Mari, F | 1 |
| Conti, V | 1 |
| Caputo, R | 1 |
| Guerrini, R | 1 |
| Sakaguchi, Y | 1 |
| Yoshihashi, H | 1 |
| Uehara, T | 1 |
| Miyama, S | 1 |
| Kosaki, K | 2 |
| Takenouchi, T | 1 |
| Rohrbach, JM | 1 |
| Kataria, M | 1 |
| Agarwal, A | 1 |
| Venkatesh, R | 1 |
| Reddy, NG | 1 |
| Gujral, GS | 1 |
| Chhablani, J | 1 |
| Graziano, C | 1 |
| Gusson, E | 1 |
| Severi, G | 1 |
| Isidori, F | 1 |
| Wischmeijer, A | 1 |
| Brugnara, M | 1 |
| Seri, M | 1 |
| Rossi, C | 1 |
| Georgalas, I | 1 |
| Kymionis, GD | 1 |
| Papaconstantinou, D | 1 |
| Paraskevopoulos, T | 1 |
| de Paula Freitas, B | 1 |
| Zin, A | 1 |
| Ko, A | 1 |
| Maia, M | 1 |
| Ventura, CV | 1 |
| Belfort, R | 1 |
| Rall, N | 1 |
| Leon, A | 1 |
| Gomez, R | 1 |
| Daroca, J | 1 |
| Lacassie, Y | 1 |
| Chang, TC | 1 |
| Bauer, M | 1 |
| Puerta, HS | 1 |
| Greenberg, MB | 1 |
| Cavuoto, KM | 1 |
| Abdel-Salam, GMH | 1 |
| Abdel-Hamid, MS | 1 |
| Mehrez, MI | 1 |
| Kamal, AM | 1 |
| Taher, MB | 1 |
| Afifi, HH | 1 |
| Saluja, G | 1 |
| Pujari, A | 1 |
| Temkar, S | 1 |
| Wilcynski, M | 1 |
| Loba, P | 1 |
| Ravi Kumar, KV | 1 |
| Pandey, SK | 1 |
| Zerkaoui, N | 1 |
| Padhy, SK | 2 |
| Takkar, B | 2 |
| Mandal, S | 1 |
| Sahu, S | 1 |
| Jain, AM | 1 |
| Ranjan, R | 1 |
| Manayath, GJ | 1 |
| Raval, V | 1 |
| Rao, S | 1 |
| Das, T | 1 |
| Kumar, V | 3 |
| Agarwal, R | 1 |
| Nongrem, G | 1 |
| Maharana, PK | 1 |
| Sharma, N | 1 |
| Galvis, V | 1 |
| Tello, A | 1 |
| Valarezo, P | 1 |
| Prada, AM | 1 |
| Huynh, N | 1 |
| Brooks, BP | 1 |
| Shi, Y | 1 |
| Tu, Y | 1 |
| Mecham, RP | 1 |
| Bassnett, S | 1 |
| Sati, A | 1 |
| Shankar, S | 1 |
| Gurunadh, VS | 1 |
| Sangwan, VS | 2 |
| Masket, S | 1 |
| LeBlanc, SK | 1 |
| Taranath, D | 1 |
| Morris, S | 1 |
| Barnett, CP | 1 |
| Beby, F | 2 |
| Mohamed, A | 1 |
| Chaurasia, S | 1 |
| Ramappa, M | 1 |
| Jalali, S | 1 |
| Geddes, GC | 1 |
| Dimmock, DP | 1 |
| Hehir, DA | 1 |
| Helbling, DC | 1 |
| Kirkpatrick, E | 1 |
| Loomba, R | 1 |
| Southern, J | 1 |
| Waknitz, M | 1 |
| Scharer, G | 1 |
| Konduri, GG | 1 |
| Elkhoyaali, A | 1 |
| El Asri, F | 1 |
| Chatoui, S | 1 |
| Iferkhass, S | 1 |
| Reda, K | 1 |
| Oubaaz, A | 1 |
| Ventura-Abreu, N | 1 |
| Asorey-García, A | 1 |
| Santos-Bueso, E | 1 |
| García-Feijoo, J | 1 |
| Menapace, R | 1 |
| Crandall, DA | 1 |
| Barrett, RT | 1 |
| Hardten, DR | 1 |
| Snyder, ME | 2 |
| Assia, EI | 1 |
| Lorente, R | 1 |
| Vasavada, AR | 1 |
| Sekundo, W | 1 |
| Chandra, P | 1 |
| Agrawal, R | 1 |
| Shirley, K | 1 |
| O'Keefe, M | 1 |
| McKee, S | 1 |
| McLoone, E | 1 |
| Karatepe Haşhaş, AS | 1 |
| Arifoğlu, HB | 1 |
| Yüce, Y | 1 |
| Duru, N | 1 |
| Ulusoy, DM | 1 |
| Zararsız, G | 1 |
| Khan, AO | 1 |
| Aldahmesh, MA | 1 |
| Alkuraya, F | 1 |
| Radke, N | 1 |
| Kalamkar, C | 1 |
| Mukherjee, A | 1 |
| Radke, S | 1 |
| Storch, M | 1 |
| Feltgen, N | 1 |
| Hoerauf, H | 1 |
| Al-Ani, SA | 1 |
| Locke, MB | 1 |
| Rees, M | 1 |
| de Chalain, TM | 1 |
| Ang, GS | 1 |
| Simpson, SA | 1 |
| Reddy, AR | 1 |
| Wadhwa, N | 1 |
| Venkatesh, P | 2 |
| Sampangi, R | 1 |
| Garg, S | 2 |
| Abouzeid, H | 1 |
| Meire, FM | 1 |
| Osman, I | 1 |
| ElShakankiri, N | 1 |
| Bolay, S | 1 |
| Munier, FL | 1 |
| Schorderet, DF | 1 |
| Negi, SI | 1 |
| Krishnaswamy, G | 1 |
| Sobreira, N | 1 |
| Walsh, MF | 1 |
| Batista, D | 1 |
| Wang, T | 1 |
| Kara, N | 1 |
| Yazici, AT | 1 |
| Demirkale, HI | 1 |
| Bozkurt, E | 1 |
| Cakir, M | 1 |
| Demirok, A | 1 |
| Yilmaz, OF | 1 |
| Tallón-Walton, V | 1 |
| Nieminen, P | 1 |
| Arte, S | 1 |
| Ustrell-Torrent, JM | 1 |
| Carvalho-Lobato, P | 1 |
| Manzanares-Céspedes, MC | 1 |
| VAN CANNEYT, J | 1 |
| KLUYSKENS, J | 1 |
| Aziz, HA | 1 |
| Sisk, RA | 1 |
| Berrocal, AM | 1 |
| Murray, TG | 1 |
| Kumar, K | 2 |
| Chanana, B | 1 |
| Rohatgi, J | 1 |
| Gupta, VP | 1 |
| Tanwar, M | 1 |
| Naithani, P | 1 |
| Insaan, R | 1 |
| Dada, R | 1 |
| Li, J | 1 |
| Ma, X | 1 |
| Hu, Z | 1 |
| Xiao, X | 1 |
| Li, S | 1 |
| Zhang, Q | 2 |
| Dumitrescu, AV | 1 |
| Milunsky, JM | 1 |
| Longmuir, SQ | 1 |
| Drack, AV | 1 |
| Pearce, ZD | 1 |
| Droste, PJ | 1 |
| Aaberg, TM | 1 |
| Hassan, AS | 1 |
| Eadie, JA | 1 |
| Faia, LJ | 1 |
| Wong, SC | 1 |
| Trese, MT | 1 |
| Zetterström, C | 1 |
| Arbisser, LB | 1 |
| Brézin, AP | 1 |
| Assia, E | 1 |
| Bolger, J | 1 |
| Haldipurkar, S | 1 |
| Malyugin, B | 1 |
| Pham, DT | 1 |
| Vieira, H | 1 |
| Gregory-Evans, K | 1 |
| Lim, N | 1 |
| Brookes, JL | 1 |
| Brueton, LA | 1 |
| Gregory-Evans, CY | 1 |
| Morrison, DA | 2 |
| FitzPatrick, DR | 2 |
| Fleck, BW | 2 |
| Giltay, JC | 1 |
| Wittebol-Post, D | 1 |
| van Bokhoven, H | 1 |
| Kastrop, PM | 1 |
| Lock, MT | 1 |
| Espana, EM | 1 |
| Raju, VK | 1 |
| Tseng, SC | 1 |
| Moog, U | 1 |
| Engelen, JJ | 2 |
| van Schrojenstein Lantman-de Valk, HM | 1 |
| Driessen, SD | 1 |
| Fryns, JP | 4 |
| de Heer, IM | 1 |
| van Nesselrooij, BP | 1 |
| Spliet, W | 1 |
| Vermeij-Keers, C | 1 |
| Jamieson, RV | 1 |
| Munier, F | 1 |
| Balmer, A | 1 |
| Farrar, N | 1 |
| Black, GC | 1 |
| Blackmon, DM | 1 |
| Lambert, SR | 1 |
| Skorobohach, BJ | 1 |
| Hendrix, DV | 1 |
| Bildfell, R | 1 |
| Watrous, B | 1 |
| Maxwell, S | 1 |
| Schlipf, J | 1 |
| Reynolds, M | 1 |
| Tesser, PM | 1 |
| Carvalho, DR | 1 |
| Alves, VV | 1 |
| Minaré-Júnior, A | 1 |
| Peres, LC | 1 |
| Pina-Neto, JM | 1 |
| Ramos, ES | 1 |
| FRANCESCHETTI, A | 1 |
| GREENBERG, R | 1 |
| FRANCOIS, J | 6 |
| HAUSTRATE, L | 1 |
| KUBIK, J | 2 |
| GREBE, H | 1 |
| GILLESPIE, FD | 1 |
| COVELLI, B | 1 |
| GUIST, G | 1 |
| HERVOUET, F | 2 |
| CHEVANNES, H | 1 |
| LENOIR, A | 1 |
| AMMANN, F | 1 |
| KLEIN, D | 3 |
| JOEHR, P | 1 |
| MERGHOUB, S | 1 |
| LELE, KP | 1 |
| DENT, T | 1 |
| DELHANTY, JD | 1 |
| BEHNKE, H | 2 |
| MAUL, HJ | 1 |
| Bahillo, P | 1 |
| Cantero, T | 1 |
| Solís, P | 1 |
| Aragón, P | 1 |
| Gómez, S | 1 |
| Cambronero, R | 1 |
| SCHRIRE, L | 1 |
| CZUKRASZ, I | 1 |
| GUERRA GRANDE, JM | 1 |
| Mavrikakis, I | 1 |
| Mavrikakis, E | 1 |
| Syam, PP | 1 |
| Bell, J | 1 |
| Casey, JH | 1 |
| Casswell, AG | 1 |
| Brittain, GP | 1 |
| Liu, C | 1 |
| Kermane, A | 1 |
| Tachfouti, S | 1 |
| El Moussaif, H | 1 |
| Mohcine, Z | 1 |
| Lasky, JB | 1 |
| Sandu, M | 1 |
| Balashanmugan, A | 1 |
| Cardona, CJ | 1 |
| Plumer, K | 1 |
| Vogt, G | 1 |
| Puhó, E | 1 |
| Czeizel, AE | 1 |
| Jurowski, P | 1 |
| Aramaki, M | 1 |
| Hokuto, I | 1 |
| Matsumoto, T | 1 |
| Ishimoto, H | 1 |
| Inoue, M | 1 |
| Kimura, T | 1 |
| Oikawa, Y | 1 |
| Ikeda, K | 1 |
| Yoshimura, Y | 1 |
| Takahashi, T | 1 |
| Ganesh, A | 1 |
| Al-Kindi, A | 1 |
| Jain, R | 1 |
| Raeburn, S | 1 |
| Lueder, GT | 1 |
| Sinha, A | 1 |
| Pal, N | 1 |
| Saxena, R | 1 |
| Cionni, RJ | 2 |
| Karatza, EC | 1 |
| Osher, RH | 2 |
| Shah, M | 1 |
| Commeaux, C | 1 |
| Bozon, M | 1 |
| Denis, P | 1 |
| Edery, P | 1 |
| Morlé, L | 1 |
| Kim, JH | 1 |
| Kang, MH | 1 |
| Kang, SM | 1 |
| Song, BJ | 1 |
| Islam, N | 1 |
| Mehta, JS | 1 |
| Plant, GT | 1 |
| Thorne, MC | 1 |
| Ruiz, RE | 1 |
| Carvalho, J | 1 |
| Lesperance, MM | 1 |
| Srivastava, SP | 1 |
| Raca, G | 1 |
| Schimmenti, L | 1 |
| Martin, CL | 1 |
| Wang, P | 1 |
| Liang, X | 1 |
| Yi, J | 1 |
| Naumann, G | 1 |
| Green, WR | 1 |
| Petit, P | 1 |
| Godart, S | 1 |
| Vasil'eva, SF | 1 |
| Venger, GE | 2 |
| Mahboubi, S | 1 |
| Templeton, JM | 1 |
| Jouhaud, F | 1 |
| Augustin, P | 1 |
| Malbrel, C | 1 |
| Rosenfeld, W | 3 |
| Verma, RS | 4 |
| Jhaveri, RC | 2 |
| Patrinely, JR | 1 |
| Font, RL | 2 |
| Campbell, RJ | 1 |
| Robertson, DM | 1 |
| Eller, AW | 1 |
| Brown, GC | 1 |
| Gardner, TW | 1 |
| Zaparackas, ZG | 1 |
| Naidich, TP | 1 |
| Lillquist, K | 1 |
| Warburg, M | 4 |
| Andersen, SR | 2 |
| Hägerstrand, I | 1 |
| Polomeno, RC | 1 |
| Staudenmaier, C | 1 |
| Guyda, HJ | 1 |
| Little, JM | 1 |
| Ferry, AP | 1 |
| Marchevsky, A | 1 |
| Strauss, L | 1 |
| Torczynski, E | 1 |
| Rüttimann, G | 1 |
| Daicker, B | 1 |
| BenEzra, D | 1 |
| Frucht, Y | 1 |
| Weber, U | 1 |
| Petersen, J | 1 |
| Shin, DH | 2 |
| Clark, CE | 1 |
| Telfer, MA | 1 |
| Cowell, HR | 1 |
| Kalamchi, A | 1 |
| Steg, NL | 1 |
| Rubin, LF | 1 |
| Daly, IW | 1 |
| Abeliovich, D | 1 |
| Yagupsky, P | 1 |
| Bashan, N | 1 |
| Fishman, AJ | 1 |
| Ackerman, J | 1 |
| Kanarek, I | 1 |
| Novetsky, A | 1 |
| Ackerman, E | 1 |
| Schiowitz, S | 1 |
| Mondino, BJ | 1 |
| Cohn, HC | 1 |
| Halal, F | 1 |
| Farsky, K | 1 |
| Vaughn, LW | 1 |
| Schepens, CL | 1 |
| Pagon, RA | 1 |
| Kalina, RE | 1 |
| Lechner, DJ | 1 |
| Radhakrishnan, N | 1 |
| Gelatt, KN | 4 |
| Powell, NG | 1 |
| Huston, K | 1 |
| Leisti, J | 1 |
| Aula, P | 1 |
| Lee, LR | 1 |
| Sullivan, TJ | 1 |
| Sandramouli, S | 1 |
| Betharia, SM | 1 |
| Slezak, H | 1 |
| Haddad, R | 1 |
| Scholda, C | 1 |
| Tupler, R | 1 |
| Hoeller, A | 1 |
| Pezzolo, A | 1 |
| Maraschio, P | 1 |
| Bailey, JE | 1 |
| Lakshminarayanan, V | 1 |
| Enoch, JM | 1 |
| Wörle, H | 1 |
| Lewin, MA | 1 |
| Holder, M | 1 |
| Bastanier, CK | 1 |
| Köhler, B | 1 |
| Bavbek, T | 1 |
| Ogüt, MS | 1 |
| Kazokoglu, H | 1 |
| Watt, RH | 1 |
| Donnai, D | 1 |
| Barrow, M | 1 |
| Toriello, HV | 1 |
| Higgins, JV | 1 |
| Miller, T | 1 |
| Verloes, A | 2 |
| Williams, DL | 1 |
| Barnett, KC | 2 |
| Barros-Nuñez, P | 1 |
| Medina, C | 1 |
| Mendoza, R | 1 |
| Sanchez-Corona, J | 1 |
| Garcia-Cruz, D | 1 |
| Lee, BL | 1 |
| Bateman, JB | 1 |
| Schwartz, SD | 1 |
| Konstas, AG | 1 |
| Bufidis, T | 1 |
| Kardasopoulos, A | 1 |
| Konrad, H | 1 |
| Merriam, JC | 1 |
| Jones, IS | 1 |
| Fledelius, HC | 1 |
| Nicolosi, C | 1 |
| Girlanda, P | 1 |
| Vita, G | 1 |
| Messina, C | 1 |
| Temtamy, SA | 1 |
| Salam, MA | 1 |
| Aboul-Ezz, EH | 1 |
| Hussein, HA | 1 |
| Helmy, SA | 1 |
| Shalash, BA | 1 |
| Bulle, F | 1 |
| Lespinasse, J | 1 |
| Pawlak, A | 1 |
| Vadot, E | 1 |
| Sastre, J | 1 |
| Noël, B | 2 |
| Guellaen, G | 1 |
| Ramesh, KH | 1 |
| Shah, HO | 1 |
| Sherman, J | 1 |
| Lin, JH | 1 |
| Williams, TD | 1 |
| Gopal, L | 1 |
| Badrinath, SS | 1 |
| Kumar, KS | 1 |
| Doshi, G | 1 |
| Biswas, N | 1 |
| Werner, W | 1 |
| Kraft, S | 1 |
| Callen, DF | 1 |
| Bartsch, O | 2 |
| Hinkel, GK | 1 |
| Gündüz, K | 1 |
| Günalp, I | 1 |
| Erden, I | 1 |
| Can, B | 1 |
| Monaghan, KG | 1 |
| Van Dyke, DL | 1 |
| Wiktor, A | 1 |
| Feldman, GL | 1 |
| Ohnuma, K | 1 |
| Imaizumi, K | 1 |
| Masuno, M | 1 |
| Nakamura, M | 1 |
| Kuroki, Y | 1 |
| Atasu, M | 2 |
| Eryilmaz, A | 1 |
| Genc, A | 1 |
| Ozcan, M | 1 |
| Ozbayrak, S | 1 |
| Dollfus, H | 2 |
| Joanny-Flinois, O | 1 |
| Doco-Fenzy, M | 1 |
| Veyre, L | 1 |
| Joanny-Flinois, L | 1 |
| Khoury, M | 1 |
| Jonveaux, P | 1 |
| Abitbol, M | 1 |
| Dufier, JL | 1 |
| al-Gazali, LI | 1 |
| Daufenbach, DR | 1 |
| Ruttum, MS | 1 |
| Pulido, JS | 1 |
| Keech, RV | 1 |
| Seeliger, MW | 1 |
| Biesalski, HK | 1 |
| Wissinger, B | 1 |
| Gollnick, H | 1 |
| Gielen, S | 1 |
| Frank, J | 1 |
| Beck, S | 1 |
| Zrenner, E | 1 |
| Mills, MD | 1 |
| Syed, N | 1 |
| Avunduk, AM | 1 |
| Aslan, Y | 1 |
| Kapicioğlu, Z | 1 |
| Elmas, R | 1 |
| Eagle, RC | 1 |
| Shields, JA | 1 |
| Shields, CL | 1 |
| Wood, MG | 1 |
| Wieczorek, D | 1 |
| Krause, M | 1 |
| Majewski, F | 2 |
| Albrecht, B | 1 |
| Horn, D | 1 |
| Riess, O | 1 |
| Gillessen-Kaesbach, G | 1 |
| Berends, MJ | 1 |
| Tan-Sindhunata, G | 1 |
| Leegte, B | 1 |
| van Essen, AJ | 1 |
| Singerman, LJ | 1 |
| Mittra, RA | 1 |
| Makita, Y | 1 |
| Lee, JS | 1 |
| Lee, JE | 1 |
| Shin, YG | 1 |
| Choi, HY | 1 |
| Oum, BS | 1 |
| Kim, HJ | 1 |
| Cantenot, L | 1 |
| Rouault, F | 1 |
| Philipp, N | 1 |
| Flament, J | 1 |
| Rosias, PR | 1 |
| Sijstermans, JM | 1 |
| Theunissen, PM | 1 |
| Pulles-Heintzberger, CF | 1 |
| De Die-Smulders, CE | 1 |
| Van Der Meer, SB | 1 |
| Burk, SE | 1 |
| Da Mata, AP | 1 |
| Cohen, JS | 1 |
| Rudolph, G | 1 |
| Haritoglou, C | 1 |
| Kalpadakis, P | 1 |
| Boergen, KP | 1 |
| Meitinger, T | 1 |
| Gravholt, CH | 1 |
| Friedrich, U | 1 |
| Gradstein, L | 1 |
| Belfair, N | 1 |
| Ronen, E | 1 |
| Lifshitz, T | 1 |
| Biedner, B | 1 |
| Kunze, J | 1 |
| Tolksdorf, M | 1 |
| Wiedemann, HR | 1 |
| Cervenka, J | 1 |
| Hansen, CA | 1 |
| Franciosi, RA | 1 |
| Gorlin, RJ | 1 |
| Charleux, J | 1 |
| Mackman, G | 1 |
| Brightbill, FS | 1 |
| Optiz, JM | 1 |
| Walknowska, J | 1 |
| Peakman, D | 1 |
| Weleber, RG | 1 |
| Fulton, AB | 1 |
| Howard, RO | 1 |
| Albert, DM | 1 |
| Hsia, YE | 1 |
| Packman, S | 1 |
| Apple, DJ | 2 |
| Khriapchenkova, MP | 1 |
| Bard, LA | 1 |
| Zachwatowicz, B | 1 |
| Bartoszewicz, H | 1 |
| Junge, J | 1 |
| Huismans, H | 1 |
| Richards, W | 1 |
| Welge-Lüssen, L | 1 |
| Latta, E | 1 |
| Grey, RH | 1 |
| Rice, NS | 1 |
| Mallek, DR | 1 |
| Oliver, M | 1 |
| Hanson, LA | 1 |
| Lindholm, L | 1 |
| Carlsson, B | 1 |
| Fasth, A | 1 |
| Fälström, SP | 1 |
| Wadsworth, C | 1 |
| Värendh, G | 1 |
| Harms, H | 2 |
| Binkhorst, CD | 1 |
| Ho, CK | 1 |
| Kaufman, RL | 1 |
| Podos, SM | 1 |
| Vestermark, S | 2 |
| Dascotte, JC | 1 |
| Woillez, M | 2 |
| Dhoine, G | 1 |
| Volkov, VV | 1 |
| Chernousenko, VN | 1 |
| Spranger, J | 1 |
| Aksu, F | 1 |
| Fenner, A | 1 |
| Schwinger, E | 2 |
| Corcostegui, B | 1 |
| Güell, JL | 1 |
| García-Arumí, J | 1 |
| Guion-Almeida, ML | 1 |
| Richieri-Costa, A | 1 |
| Mauger, TF | 1 |
| Makley, TA | 1 |
| Davidorf, FH | 1 |
| Rogers, GL | 1 |
| Hayasaka, S | 1 |
| Furuse, N | 1 |
| Noda, S | 1 |
| Setogawa, T | 1 |
| Buntinx, I | 1 |
| Temple, IK | 1 |
| Brunner, H | 1 |
| Jones, B | 1 |
| Burn, J | 1 |
| Baraitser, M | 2 |
| Stratton, RF | 1 |
| Bluestone, DL | 1 |
| Pallotta, R | 1 |
| Daus, W | 1 |
| Tetz, M | 1 |
| Völcker, HE | 1 |
| Bierich, JR | 1 |
| Christie, M | 1 |
| Heinrich, JJ | 1 |
| Martinez, AS | 1 |
| Wright, S | 1 |
| Levy, IS | 1 |
| Munk, PL | 1 |
| Tommerup, N | 1 |
| Parving, A | 1 |
| Weismann, K | 1 |
| Russell, B | 1 |
| Thomsen, HK | 1 |
| Curtis, MA | 1 |
| Quarrell, OW | 1 |
| Cobon, AM | 1 |
| Cummins, M | 1 |
| Dodinval, P | 1 |
| Van Gool, S | 1 |
| de Zegher, F | 1 |
| de Vries, LS | 1 |
| Vanderschueren-Lodeweyckx, M | 1 |
| Devlieger, H | 1 |
| Casaer, P | 1 |
| Eggermont, E | 4 |
| Davenport, SL | 1 |
| Hefner, MA | 1 |
| Mitchell, JA | 1 |
| Meinecke, P | 1 |
| Polke, A | 1 |
| Schmiegelow, P | 1 |
| Ward, J | 1 |
| Sierra, IA | 1 |
| D'Croz, E | 1 |
| Abruzzo, MA | 1 |
| Erickson, RP | 1 |
| Lovasik, JV | 1 |
| Kothe, AC | 1 |
| Williams, SA | 1 |
| High, AS | 1 |
| Hall, BD | 1 |
| Beemer, FA | 1 |
| de Nef, JJ | 1 |
| Delleman, JW | 2 |
| Bleeker-Wagemakers, EM | 1 |
| Shprintzen, RJ | 1 |
| Liberfarb, RM | 1 |
| Abdo, OP | 1 |
| Pruett, RC | 1 |
| Martyn, LJ | 1 |
| DiGeorge, A | 1 |
| Hurst, JA | 1 |
| Markiewicz, M | 1 |
| Kumar, D | 1 |
| Brett, EM | 1 |
| Brodsky, MC | 1 |
| Buckley, EG | 1 |
| Crittenden, JC | 1 |
| Schirmer, RH | 1 |
| Pollock, S | 1 |
| Magenis, RE | 1 |
| Sheehy, RR | 1 |
| Brown, MG | 1 |
| McDermid, HE | 1 |
| White, BN | 1 |
| Zonana, J | 1 |
| Weleber, R | 1 |
| Webb, GC | 1 |
| Keith, CG | 1 |
| Campbell, NT | 1 |
| Winter, RM | 1 |
| Jaffe, MJ | 1 |
| Currie, J | 1 |
| Schwankhaus, JD | 1 |
| Sherins, RJ | 1 |
| Pfeiffer, RA | 1 |
| Mayer, U | 1 |
| Duncan, AM | 1 |
| Kleczkowska, A | 2 |
| Igodt-Ameye, L | 1 |
| Van den Berghe, H | 2 |
| Drews, RC | 3 |
| Jaffe, NS | 1 |
| Clayman, HM | 1 |
| Duvall, J | 1 |
| Miller, SL | 1 |
| Cheatle, E | 1 |
| Tso, MO | 1 |
| Bialasiewicz, AA | 1 |
| Mayer, UM | 1 |
| Meythaler, FH | 1 |
| Shenkman, L | 1 |
| Soong, HK | 1 |
| Raizman, MB | 1 |
| Hoo, JJ | 1 |
| Robertson, A | 1 |
| Fowlow, SB | 1 |
| Bowen, P | 1 |
| Lin, CC | 1 |
| Magli, A | 1 |
| Greco, A | 1 |
| Alfieri, MC | 1 |
| Pignalosa, B | 1 |
| Traboulsi, EI | 1 |
| Bryk, E | 1 |
| Pearce, WG | 2 |
| Nakamura, K | 1 |
| Babu, KA | 1 |
| Latimer, CA | 1 |
| Wyman, M | 1 |
| Bramanti, P | 1 |
| Ricci, RM | 1 |
| Benedetto, M | 1 |
| Candela, L | 1 |
| Bagalà, S | 1 |
| Di Perri, R | 1 |
| Balacco-Gabrieli, C | 1 |
| Lorusso, VV | 1 |
| La Torre, M | 1 |
| Al-Ghadyan, AA | 1 |
| Kazi, GQ | 1 |
| Cotlier, E | 1 |
| Evens, L | 2 |
| Logghe, N | 2 |
| De Bock, F | 2 |
| Lyford, JH | 1 |
| Roy, FH | 1 |
| Cory, CC | 1 |
| Jamison, DL | 1 |
| Bonnet, M | 2 |
| Vianey, E | 2 |
| Lur'e, IV | 2 |
| Gushchina, GS | 1 |
| Purtscher, E | 1 |
| Vannas, A | 1 |
| Krasnov, MM | 1 |
| Burow, B | 1 |
| Theile, U | 1 |
| Aguirre, G | 1 |
| Ullerich, K | 1 |
| Kammann, J | 1 |
| Hoepner, J | 1 |
| Yanoff, M | 2 |
| Miller, SH | 1 |
| Wood, AM | 1 |
| Haq, MA | 1 |
| Godel, V | 1 |
| Feiler-Ofry, V | 1 |
| Stein, R | 1 |
| Chandler, PA | 1 |
| Simmons, RJ | 1 |
| Gehler, J | 1 |
| Grosse, R | 1 |
| McGill, LD | 1 |
| Morán, M | 1 |
| Mullaney, J | 2 |
| Fitzpatrick, C | 1 |
| Freedom, RM | 1 |
| Gerald, PS | 1 |
| Sebestyén, J | 1 |
| Méhes, K | 1 |
| Mottet, J | 1 |
| Nantois, Y | 1 |
| Quack, B | 1 |
| Petersen, RA | 1 |
| Neuhäuser, G | 1 |
| Say, B | 1 |
| Balci, S | 1 |
| Winkelman, JE | 1 |
| Rácz, P | 1 |
| Szilvássy, I | 1 |
| Pintér, E | 1 |
| Kröner, B | 1 |
| Kerr, CB | 1 |
| Batra, DV | 1 |
| Paul, SD | 1 |
| Goddé-Jolly, D | 1 |
| Ruellan, YM | 1 |
| Belmonte, M | 1 |
| Melodia, C | 1 |
| Przybyl, K | 1 |
| Kaluzny, J | 1 |
| Heimann, K | 1 |
| Jaeger, W | 1 |
| Dollmann, A | 1 |
| Nixeaman, DH | 1 |
| Secchi, AG | 1 |
| Gabai, G | 1 |
| Scialfa, A | 1 |
| Jacobsen, L | 1 |
| Mellemgaard, L | 1 |
| Hanicka, M | 1 |
| Makowska, J | 1 |
| Sokolowski, J | 1 |
| Jarczyk, K | 1 |
| Choĭs, DP | 1 |
| Wiebusch, D | 1 |
| Déodati, F | 1 |
| Calmettes, L | 1 |
| Bec, P | 1 |
| Holden, JD | 1 |
| Stallworth, B | 1 |
| Krivul'chak, PK | 1 |
| Ambrosio, A | 1 |
| Ionasesco, V | 1 |
| Gauthier, G | 1 |
| Simona, B | 1 |
| Schmidt, RE | 1 |
| Collum, LM | 1 |
| Belhorn, RW | 1 |
| Henkind, P | 1 |
| Remlein-Mozolewska, G | 1 |
| Chwirot, R | 1 |
| Cordier, J | 1 |
| Reny, A | 1 |
| Kahn, N | 1 |
| Stanescu, B | 1 |
| Climescu, E | 1 |
| Limaye, SR | 1 |
| Veresen, H | 1 |
| Darby, CW | 1 |
| Hughes, DT | 1 |
| Dallapiccola, B | 1 |
| Picó, G | 1 |
| Amalric, P | 1 |
| Rebière, P | 1 |
| Duguid, IM | 1 |
| Fraser, GR | 1 |
| Choyce, DP | 1 |
| Bartkowska-Orlowska, M | 1 |
| Sobieszczyk, S | 1 |
| Kosowicz, J | 1 |
| Orlowski, WJ | 1 |
| Cagianut, B | 1 |
| Theiler, K | 1 |
| Turut, P | 1 |
| Lesser, C | 1 |
| Thiel, HJ | 1 |
| Süchting, P | 1 |
| Castellazzo, R | 1 |
| Sampaolesi, R | 1 |
| Reca, RM | 1 |
| Jerndal, T | 2 |
| Mickiewicz, L | 1 |
| Roch, LM | 1 |
| Petrucci, JV | 1 |
| Barber, AN | 1 |
| Scassellati Sforzolini, G | 1 |
| De Molfetta, V | 1 |
| Spinelli, D | 1 |
| Cremona, AC | 1 |
| Cremona, EG | 1 |
| Lastra, ET | 1 |
| Witmer, R | 1 |
| Feuvrier, YM | 1 |
| Louvigne, Y | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Biometric Characteristics Of The Eye With Microcornea/Microphthalmia And Congenital Cataract Before And After Cataract Extraction[NCT04759560] | 133 participants (Anticipated) | Observational | 2020-07-25 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
21 reviews available for 2-propanol and Coloboma
| Article | Year |
|---|---|
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Topics: Abnormalities, Multiple; Amino Acid Substitution; Cerebellum; Choroid; Coloboma; Craniofacial Abnorm | 2021 |
Oral findings in Midline Syndrome: a case report and literature review.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child; Cleft Palate; Coloboma; Encephalocele; | 2010 |
Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review.
Topics: Abnormalities, Multiple; Anophthalmos; Chromosome Deletion; Chromosomes, Human, Pair 14; Coloboma; E | 2012 |
Normal and abnormal ocular development in man.
Topics: Chromosome Aberrations; Chromosome Disorders; Coloboma; Corneal Ulcer; Ectoderm; Eye; Eye Abnormalit | 1982 |
Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Coloboma; Eye Abnormalities; Eyelids; Face; Female | 1995 |
New autosomal recessive multiple congenital abnormalities/mental retardation syndrome with craniofacial dysmorphism absent corpus callosum, iris colobomas and connective tissue dysplasia.
Topics: Abnormalities, Multiple; Adult; Agenesis of Corpus Callosum; Child; Coloboma; Connective Tissue; Cra | 1996 |
Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: first report of bilateral cataracts and a 16q deletion.
Topics: Abnormalities, Multiple; Autistic Disorder; Cataract; Child, Preschool; Chromosome Aberrations; Chro | 1997 |
Phenotypic variability of Cat-Eye syndrome.
Topics: Abnormalities, Multiple; Adult; Anal Canal; Chromosome Inversion; Chromosomes, Human, Pair 22; Colob | 2001 |
[Rieger syndrome].
Topics: Abnormalities, Multiple; Coloboma; Eye Abnormalities; Humans; Iris; Syndrome | 2001 |
Phenotypic variability of the cat eye syndrome. Case report and review of the literature.
Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, Pair 22; Coloboma; Craniofacial Abnormalities; F | 2001 |
[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].
Topics: Abnormalities, Multiple; Alkaline Phosphatase; Anus, Imperforate; Autoradiography; Child, Preschool; | 1975 |
Congenital ophthalmic anomalies in cattle.
Topics: Albinism; Animals; Anophthalmos; Cataract; Cattle; Cattle Diseases; Coloboma; Exophthalmos; Eye Abno | 1976 |
Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus.
Topics: Abnormalities, Multiple; Cerebellum; Cleft Palate; Coloboma; Hearing Loss; Hearing Loss, Bilateral; | 1991 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
Topics: Abnormalities, Multiple; Blepharoptosis; Child; Chromosome Aberrations; Chromosome Disorders; Chromo | 1991 |
Selected eye defects of special importance in pediatrics.
Topics: Bibliographies as Topic; Cataract; Child; Child, Preschool; Coloboma; Ectopia Lentis; Eye Abnormalit | 1987 |
The morning glory disc anomaly: contractile movement, classification, and embryogenesis.
Topics: Coloboma; Cornea; Eye; Eye Movements; Female; Fundus Oculi; Humans; Infant; Iris; Ophthalmoscopy; Op | 1987 |
Neonatal ophthalmology.
Topics: Animals; Animals, Newborn; Anophthalmos; Blepharitis; Cataract; Chorioretinitis; Coloboma; Conjuncti | 1985 |
[Eye anomalies in chromosomal aberrations].
Topics: Abnormalities, Multiple; Aneuploidy; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1971 |
Pediatric ophthalmology in small animal practice.
Topics: Animals; Cat Diseases; Cataract; Cats; Coloboma; Cornea; Dermoid Cyst; Dog Diseases; Dogs; Entropion | 1973 |
Hereditary retinal diseases in small animals.
Topics: Animals; Blindness; Cat Diseases; Cats; Choroid; Coloboma; Corneal Opacity; Dog Diseases; Dogs; Elec | 1973 |
[Ocular signs of trisomy 13. General review].
Topics: Anterior Chamber; Brain; Cataract; Child; Child, Preschool; Choroid; Chromosome Aberrations; Chromos | 1971 |
351 other studies available for 2-propanol and Coloboma
| Article | Year |
|---|---|
Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.
Topics: China; Coloboma; Eye Abnormalities; Humans; Infant; Iris; Male; Membrane Proteins; Microphthalmos; N | 2022 |
Atypical superior iris and chorioretinal coloboma.
Topics: Coloboma; Humans; Iris; Retinal Diseases | 2022 |
Coloboma of the retina, choroid and iris co-existing with cardiac & Skeletal anomalies in a male Nigerian: A case of noonan syndrome.
Topics: Choroid; Coloboma; Humans; Iris; Male; Nigeria; Noonan Syndrome; Retina; Young Adult | 2022 |
Conforming to the anatomy and not the standard: A technique of eccentric capsulorrhexis and intraocular lens haptic amputation for eyes with iris coloboma.
Topics: Capsulorhexis; Cataract; Coloboma; Haptic Technology; Humans; Iris; Iris Diseases; Lens Implantation | 2023 |
A novel pupilloplasty in crescent-shaped suturing pattern for coloboma and traumatic iris defects.
Topics: Coloboma; Humans; Iris; Iris Diseases; Ophthalmologic Surgical Procedures; Pupil; Retrospective Stud | 2023 |
Bilateral atypical fundal coloboma with macular drag and abnormal vasculogenesis.
Topics: Coloboma; Fundus Oculi; Humans; Iris; Macula Lutea; Retinal Diseases | 2023 |
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
Topics: Cataract; Coloboma; Glaucoma; Humans; Iris; MicroRNAs; Mutation; Pedigree | 2023 |
Unusual superior iris and retinochoroidal coloboma.
Topics: Choroid; Coloboma; Humans; Iris; Retinal Diseases | 2020 |
Temporal iridofundal coloboma with persistent pupillary membranes with persistent fetal vasculature.
Topics: Coloboma; Eye Abnormalities; Humans; Iris; Iris Diseases; Persistent Hyperplastic Primary Vitreous; | 2020 |
Congenital iris coloboma repair with excision of colobomatous sphincter muscle.
Topics: Ciliary Body; Coloboma; Humans; Iris; Iris Diseases; Muscles | 2021 |
Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.
Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; DNA; DNA Mutational Analysis; Female; Fovea Cen | 2021 |
[On the question of the lens coloboma].
Topics: Coloboma; Eye Abnormalities; Humans; Iris; Lens, Crystalline | 2021 |
Comment on: Congenital iris coloboma repair with excision of colobomatous sphincter muscle.
Topics: Ciliary Body; Coloboma; Humans; Iris; Iris Diseases; Muscles | 2021 |
Reply: Congenital iris coloboma repair with excision of colobomatous sphincter muscle.
Topics: Ciliary Body; Coloboma; Humans; Iris; Iris Diseases; Muscles | 2021 |
Atypical superonasal iris, lens and retino-choroidal coloboma.
Topics: Choroid; Coloboma; Humans; Iris; Lens, Crystalline | 2022 |
A de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.
Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; Humans; Iris; Male; Mutation, Missense; Optic N | 2017 |
Choroidal Coloboma Presenting as Leukocoria.
Topics: Child; Coloboma; Disease Progression; Eye Abnormalities; Greece; Humans; Iris; Iris Diseases; Male; | 2017 |
Anterior-Segment Ocular Findings and Microphthalmia in Congenital Zika Syndrome.
Topics: Anterior Eye Segment; Cataract; Coloboma; DNA, Viral; Eye Infections, Viral; Female; Humans; Infant; | 2017 |
New ocular finding in Baraitser-Winter syndrome (BWS).
Topics: Actins; Child, Preschool; Coloboma; Craniofacial Abnormalities; Female; Humans; Intellectual Disabil | 2018 |
Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
Topics: Abnormalities, Multiple; Adaptor Proteins, Signal Transducing; Amblyopia; Child, Preschool; Choroid; | 2017 |
Further delineation of the oculoauricular syndrome phenotype: A new family with a novel truncating HMX1 mutation.
Topics: Adult; Cataract; Codon, Nonsense; Coloboma; Consanguinity; Cornea; DNA Mutational Analysis; Ear; Exo | 2018 |
Oculocutaneous albinism with iridofundal coloboma.
Topics: Albinism, Oculocutaneous; Coloboma; Female; Fundus Oculi; Humans; Iris; Young Adult | 2018 |
Phacoemulsification with pupilloplasty in a patient with congenital cataract and iris colohoma - case report.
Topics: Adolescent; Cataract; Coloboma; Female; Humans; Iris; Iris Diseases; Ophthalmologic Surgical Procedu | 2016 |
Modified sewing machine technique for iridodialysis repair, intraocular lens relocation, iris coloboma repair, Cionni ring fixation, and scleral-fixated intraocular lens.
Topics: Ciliary Body; Coloboma; Humans; Iris; Iris Diseases; Lens Implantation, Intraocular; Lens Subluxatio | 2018 |
Commentary: Modified sewing machine technique: An innovative method for the management of iridodialysis, iris coloboma, and scleral fixation of intraocular lenses.
Topics: Coloboma; Humans; Iris; Iris Diseases; Lens Implantation, Intraocular; Lenses, Intraocular; Sclera; | 2018 |
[Bilateral iris coloboma].
Topics: Coloboma; Female; Humans; Iris; Iris Diseases | 2018 |
Association of giant retinal tear with iridofundal coloboma in a case of paediatric retinal detachment.
Topics: Child; Coloboma; Humans; Iris; Male; Pars Planitis; Retinal Detachment; Retinal Perforations; Tomogr | 2018 |
Atypical superior iris and retinochoroidal coloboma.
Topics: Adult; Bone Morphogenetic Protein Receptors, Type I; Choroid; Coloboma; Female; Humans; Iris; Mutati | 2018 |
Ocular albinism with bilateral ocular coloboma - A rare association.
Topics: Abnormalities, Multiple; Albinism, Ocular; Coloboma; Female; Fluorescein Angiography; Fundus Oculi; | 2019 |
Familial exudative vitreoretinopathy in a patient with choroidal coloboma.
Topics: Angiogenesis Inhibitors; Bevacizumab; Child; Choroid; Coloboma; Eye Diseases, Hereditary; Familial E | 2019 |
Unilateral acute hydrops in a child with bilateral microcornea and iridofundal coloboma.
Topics: Abnormalities, Multiple; Acute Disease; Adolescent; Anti-Bacterial Agents; Antihypertensive Agents; | 2019 |
Iris coloboma in one eye and pigment dispersion syndrome in the fellow eye.
Topics: Adult; Anterior Chamber; Choroid; Ciliary Body; Coloboma; Female; Humans; Iris; Iris Diseases; Pigme | 2013 |
Uveal coloboma.
Topics: Choroid; Coloboma; Exophthalmos; Humans; Iris; Magnetic Resonance Imaging; Retina; Visual Acuity | 2013 |
Ocular phenotype of Fbn2-null mice.
Topics: Animals; Coloboma; Contractile Proteins; Fibrillin-1; Fibrillin-2; Fibrillins; Iris; Mice; Mice, Inb | 2013 |
Iris retractors: the saviours in cataract surgery for cataract in lens coloboma.
Topics: Aged; Cataract; Cataract Extraction; Coloboma; Female; Humans; Iris; Lens, Crystalline; Phacoemulsif | 2013 |
Cataract surgical problem: February consultation #1.
Topics: Cataract; Cataract Extraction; Coloboma; Cornea; Craniofacial Abnormalities; Eye Abnormalities; Foot | 2014 |
Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling.
Topics: Adult; Arachnodactyly; Coloboma; DNA Mutational Analysis; Female; Fibrillins; Gestational Age; Human | 2014 |
Systemic abnormalities in children with congenital optic disc excavations.
Topics: Cataract; Child; Child, Preschool; Coloboma; Corneal Opacity; Eye Abnormalities; Female; Humans; Inf | 2015 |
Lenticular changes in congenital iridolenticular choroidal coloboma.
Topics: Adolescent; Adult; Cataract; Cataract Extraction; Choroid; Coloboma; Female; Humans; Iris; Lens, Cry | 2014 |
A novel FOXF1 mutation associated with alveolar capillary dysplasia and coexisting colobomas and hemihyperplasia.
Topics: Coloboma; Diagnosis; Fatal Outcome; Female; Forkhead Transcription Factors; Humans; Hyperplasia; Hyp | 2015 |
[Bilateral chorio-retinal coloboma].
Topics: Adolescent; Choroid; Coloboma; Female; Humans; Iris; Retina | 2015 |
Irido-choroidal coloboma: An atypical presentation?
Topics: Choroid; Coloboma; Female; Humans; Iris; Middle Aged | 2015 |
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #1.
Topics: Artificial Lens Implant Migration; Cataract Extraction; Choroid; Coloboma; Female; Fibrosis; Humans; | 2015 |
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #3.
Topics: Artificial Lens Implant Migration; Cataract Extraction; Choroid; Coloboma; Female; Humans; Iris; Len | 2015 |
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #2.
Topics: Artificial Lens Implant Migration; Cataract Extraction; Choroid; Coloboma; Female; Humans; Iris; Len | 2015 |
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #5.
Topics: Artificial Lens Implant Migration; Cataract Extraction; Choroid; Coloboma; Female; Humans; Iris; Len | 2015 |
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #4.
Topics: Artificial Lens Implant Migration; Cataract Extraction; Choroid; Coloboma; Female; Humans; Iris; Len | 2015 |
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #6.
Topics: Artificial Lens Implant Migration; Cataract Extraction; Choroid; Coloboma; Female; Humans; Iris; Len | 2015 |
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #7.
Topics: Artificial Lens Implant Migration; Cataract Extraction; Choroid; Coloboma; Female; Humans; Iris; Len | 2015 |
Fibrotic contraction and upward decentration of capsule-implant complex following cataract/IOL surgery in an eye with congenital coloboma: November consultation #8.
Topics: Artificial Lens Implant Migration; Cataract Extraction; Choroid; Coloboma; Female; Humans; Iris; Len | 2015 |
A case of iridofundal coloboma with persistent fetal vasculature and lens subluxation.
Topics: Axial Length, Eye; Cataract; Child; Choroid; Coloboma; Fundus Oculi; Humans; Iris; Lens Subluxation; | 2016 |
A clinical study of Aicardi syndrome in Northern Ireland: the spectrum of ophthalmic findings.
Topics: Adult; Aicardi Syndrome; Aniridia; Child, Preschool; Coloboma; Electroretinography; Female; Humans; | 2016 |
Evaluations of Corneas in Eyes with Isolated Iris Coloboma.
Topics: Adolescent; Anterior Chamber; Cell Count; Child; Coloboma; Cornea; Corneal Diseases; Corneal Pachyme | 2017 |
Congenital hereditary endothelial dystrophy, not glaucoma, in a child with iris colobomas.
Topics: Child; Coloboma; Corneal Dystrophies, Hereditary; Glaucoma; Humans; Intraocular Pressure; Iris; Male | 2016 |
Rare case of iridofundal coloboma with buried optic nerve head drusen in a paediatric patient.
Topics: Cataract; Child; Coloboma; Fluorescein Angiography; Fundus Oculi; Humans; Iris; Male; Optic Disk Dru | 2016 |
[Optic disc pit-associated maculopathy and iris-retinochoroidal-coloboma - a rare combination].
Topics: Adult; Central Serous Chorioretinopathy; Choroid; Coloboma; Female; Fluorescein Angiography; Follow- | 2017 |
Our experiences managing a rare cranio-orbital cleft.
Topics: Bone Transplantation; Coloboma; Craniofacial Abnormalities; Craniotomy; Eyelids; Frontal Bone; Human | 2008 |
Mycophenolate mofetil embryopathy may be dose and timing dependent.
Topics: Abnormalities, Drug-Induced; Abnormalities, Multiple; Adult; Child, Preschool; Coloboma; Dose-Respon | 2008 |
Rhegmatogenous retinal detachments in children in India: clinical characteristics, risk factors, and surgical outcomes.
Topics: Adolescent; Child; Coloboma; Eye Injuries; Female; Fundus Oculi; Humans; India; Iris; Male; Retina; | 2008 |
A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
Topics: Adolescent; Adult; Cataract; Child; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 2 | 2009 |
Consultation Section. Cataract surgical problem.
Topics: Adult; Aphakia, Postcataract; Cataract Extraction; Coloboma; Corneal Injuries; Corneal Topography; E | 2009 |
Images in clinical medicine. Keyhole pupils.
Topics: Coloboma; Humans; Iris; Male; Middle Aged | 2009 |
Interstitial deletion 5q14.3-q21 associated with iris coloboma, hearing loss, dental anomaly, moderate intellectual disability, and attention deficit and hyperactivity disorder.
Topics: Attention Deficit Disorder with Hyperactivity; Child; Chromosome Deletion; Chromosomes, Human, Pair | 2009 |
A case of spina bifida with ocular manifestations.
Topics: Abnormalities, Multiple; Cataract; Child; Choroid; Coloboma; Humans; Iris; Male; Retina; Spinal Dysr | 2009 |
Apparent anophthalmia on one side, microphthalmia with pseudo-coloboma of the iris typical of the other.
Topics: Coloboma; Eye Abnormalities; Humans; Iris | 1945 |
Optic nerve aplasia in Aicardi syndrome.
Topics: Agenesis of Corpus Callosum; Aicardi Syndrome; Coloboma; Female; Humans; Infant; Iris; Magnetic Reso | 2010 |
Congenital ectropion uveae with iris coloboma and telecanthus.
Topics: Child; Coloboma; Ectropion; Eyelids; Female; Glaucoma; Humans; Iris; Pigment Epithelium of Eye; Uvea | 2011 |
PAX6 gene analysis in irido-fundal coloboma.
Topics: Adolescent; Base Sequence; Coloboma; Eye Proteins; Female; Fundus Oculi; Homeodomain Proteins; Human | 2011 |
Lens coloboma and associated ocular malformations.
Topics: Abnormalities, Multiple; Aniridia; Choroid; Coloboma; Eye Abnormalities; Humans; Iris; Lens Subluxat | 2011 |
Microphthalmia, late onset keratitis, and iris coloboma/aniridia in a family with a novel PAX6 mutation.
Topics: Abnormalities, Multiple; Adult; Aniridia; Child, Preschool; Codon, Nonsense; Coloboma; Cornea; Exons | 2012 |
A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.
Topics: Adult; Branchio-Oto-Renal Syndrome; Cataract; Coloboma; DNA Mutational Analysis; Exons; Female; Geno | 2012 |
Bilateral colobomas with avascular peripheral retina: case report.
Topics: Child; Choroid; Coloboma; Female; Fluorescein Angiography; Humans; Iris; Lens, Crystalline; Retinal | 2012 |
Cataract surgical problem: December consultation.
Topics: Aged; Axial Length, Eye; Calcinosis; Cataract; Cataract Extraction; Cell Count; Coloboma; Endotheliu | 2012 |
First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1.
Topics: Adult; Child, Preschool; Chromosome Mapping; Chromosomes, Human, Pair 20; Coloboma; DNA Mutational A | 2002 |
Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).
Topics: Abnormalities, Multiple; Adolescent; Chromosome Deletion; Chromosomes, Human, Pair 22; Coloboma; Fem | 2002 |
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome?
Topics: Abnormalities, Multiple; Adult; Choroid; Coloboma; DNA-Binding Proteins; Foot Deformities, Congenita | 2002 |
Focal limbal stem cell deficiency corresponding to an iris coloboma.
Topics: Adult; Coloboma; Diagnosis, Differential; Humans; Iris; Limbus Corneae; Male; Stem Cells | 2002 |
Familial cryptic translocation with deletion 4q33-->4qter and duplication 7q34-->7qter in brothers with mental retardation, macrocephaly and iris coloboma.
Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, Pair 4; Chromosomes, Human, Pair 7; Coloboma; Ge | 2003 |
Parietal bone agenesis and associated multiple congenital anomalies.
Topics: Abnormalities, Multiple; Coloboma; DNA-Binding Proteins; Facial Bones; Fatal Outcome; Female; Heart | 2003 |
Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.
Topics: Adolescent; Adult; Age of Onset; Cataract; Coloboma; Cornea; DNA-Binding Proteins; Family Health; Fe | 2003 |
Congenital iris coloboma repair using a modified McCannel suture technique.
Topics: Cataract Extraction; Child, Preschool; Coloboma; Female; Humans; Iris; Lens Implantation, Intraocula | 2003 |
Staphyloma in a cat.
Topics: Animals; Cat Diseases; Cataract; Cats; Coloboma; Diagnosis, Differential; Fascia; Female; Iris; Lens | 2003 |
Bilateral optic disc colobomas in a Quarter Horse filly.
Topics: Animals; Coloboma; Cornea; Female; Horse Diseases; Horses; Iris; Lens, Crystalline; Ultrasonography | 2003 |
An iris coloboma preventing pigmentary glaucoma.
Topics: Coloboma; Exfoliation Syndrome; Glaucoma, Open-Angle; Humans; Intraocular Pressure; Iris; Laser Ther | 2003 |
Noonan syndrome associated with unilateral iris coloboma and congenital chylothorax in an infant.
Topics: Chylothorax; Coloboma; Humans; Infant; Iris; Male; Noonan Syndrome | 2003 |
[Case report: dominant transmission of coloboma with exaggeration in the 2d generation].
Topics: Choroid; Coloboma; Humans; Iris; Iris Diseases | 1953 |
Congenital bilateral coloboma of iris and chorioid; a case report.
Topics: Choroid; Coloboma; Congenital Abnormalities; Eye Abnormalities; Humans; Iris; Iris Diseases | 1953 |
[A family showing ocular anomalies of the colobotomous type from unilateral coloboma of the iris to bilateral anophthalmia associated with Bardet-Biedl syndrome].
Topics: Anophthalmos; Bardet-Biedl Syndrome; Coloboma; Eye; Eye Abnormalities; Head; Heredity; Humans; Iris; | 1953 |
[On a family presenting ocular colobomata ranging from unilateral coloboma of the iris to bilateral anophthalmos associated with Bardet-Biedl syndrome].
Topics: Anophthalmos; Bardet-Biedl Syndrome; Coloboma; Congenital Abnormalities; Eye Abnormalities; Heredity | 1953 |
[Coloboma of the eyeball and a syndrome involving the iris].
Topics: Bone and Bones; Coloboma; Congenital Abnormalities; Eye Abnormalities; Humans; Iris; Syndrome | 1953 |
[Prognosis in cataract extraction in congenital coloboma of the iris and the choroid].
Topics: Cataract Extraction; Choroid; Choroid Diseases; Coloboma; Humans; Iris; Iris Diseases; Prognosis | 1956 |
[Prognosis in cataract extraction in congenital coloboma of the iris and the choroid].
Topics: Cataract Extraction; Choroid; Choroid Diseases; Coloboma; Humans; Iris; Iris Diseases; Prognosis | 1956 |
[Prognosis in cataract extraction in congenital coloboma of the iris and the choroid].
Topics: Cataract Extraction; Choroid; Choroid Diseases; Coloboma; Humans; Iris; Iris Diseases; Prognosis | 1956 |
[Prognosis in cataract extraction in congenital coloboma of the iris and the choroid].
Topics: Cataract Extraction; Choroid; Choroid Diseases; Coloboma; Humans; Iris; Iris Diseases; Prognosis | 1956 |
[Biemond's syndrome in relatives with coloboma of the iris, coxofemoral dysplasia and epilepsy].
Topics: Abnormalities, Multiple; Coloboma; Epilepsy; Hip; Humans; Iris; Iris Diseases; Syndrome | 1960 |
Microcornea with high myopia, coloboma of iris and exophthalmos: report of a case.
Topics: Coloboma; Cornea; Exophthalmos; Humans; Iris; Medical Records; Myopia | 1962 |
[Cataract operations in non-dilatable pupils and repair of operative total coloboma and iridodialyses caused by complications].
Topics: Cataract; Cataract Extraction; Coloboma; Eye; Humans; Iris; Ophthalmologic Surgical Procedures; Pupi | 1962 |
[A case of irido-choroido-scleral coloboma. (Anatomopathological examination)].
Topics: Choroid; Coloboma; Genetics, Medical; Humans; Iris; Sclera | 1963 |
[A FAMILY WITH COLOBOMA OF THE IRIS AND CHOROID, HETEROCHROMY OF THE IRIS AND ABORTIVE MARFAN'S SYNDROME].
Topics: Arachnodactyly; Choroid; Coloboma; Genetics, Medical; Humans; Iris; Marfan Syndrome; Ophthalmology; | 1964 |
[RELATIONS BETWEEN IRIDO-CHOROIDAL COLOBOMATA AND IRIDAL HETEROCHROMIA ASSOCIATED OR NOT WITH AN INCOMPLETE FORM OF MARFAN'S SYNDROME (OBSERVATION OF A FAMILY)].
Topics: Arachnodactyly; Choroid; Coloboma; Congenital Abnormalities; Eye Diseases; Genetics, Medical; Humans | 1964 |
CHROMOSOME STUDIES IN FIVE CASES OF COLOBOMA OF THE IRIS.
Topics: Biopsy; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes; Coloboma; Congenital Abnor | 1965 |
[CONTRIBUTION TO THE PROBLEMS OF HEREDITARY FACTORS IN IRIS COLOBOMA].
Topics: Ciliary Body; Coloboma; Congenital Abnormalities; Genetics, Medical; Humans; Iris; Iris Diseases; Ne | 1965 |
[DOES A TOTAL COLOBOMA PERMANENTLY IMPAIR THE VISION?].
Topics: Coloboma; Eye Diseases; Humans; Iris; Surgical Procedures, Operative; Vision, Ocular | 1964 |
Hyper-IgM syndrome with CHARGE association.
Topics: Abnormalities, Multiple; Child, Preschool; Choanal Atresia; Coloboma; Cranial Nerve Diseases; Face; | 2003 |
A case of atypical coloboma.
Topics: Coloboma; Humans; Iris | 1950 |
[Problem of atypical iris coloboma].
Topics: Coloboma; Humans; Iris | 1951 |
[Typical, bilateral and simultaneous coloboma of the iris, ciliary body, crystalline lens and chorioretina at the entrance of the optic nerve].
Topics: Ciliary Body; Coloboma; Eye Abnormalities; Humans; Iris; Lens, Crystalline; Optic Nerve | 1951 |
Surgical management of iris defects with prosthetic iris devices.
Topics: Adult; Aged; Aged, 80 and over; Aniridia; Coloboma; Female; Glare; Humans; Iris; Iris Diseases; Lens | 2005 |
[Association of choroidal coloboma, congenital hypertrophy of retinal pigmented epithelium and familial adenomatous polyposis: case report].
Topics: Adenomatous Polyposis Coli; Child; Choroid; Coloboma; Epithelium; Humans; Hypertrophy; Iris; Male; R | 2004 |
PHACE syndrome: association with persistent fetal vasculature and coloboma-like iris defect.
Topics: Abnormalities, Multiple; Aortic Coarctation; Coloboma; Facial Neoplasms; Female; Fetal Blood; Hemang | 2004 |
Colobomas of the iris in a flock of rosecomb bantam chickens.
Topics: Analysis of Variance; Animals; Breeding; Chickens; Coloboma; Female; Iris; Male; Pedigree; Polymeras | 2004 |
A population-based case-control study of isolated ocular coloboma.
Topics: Abnormalities, Drug-Induced; Birth Weight; Case-Control Studies; Choroid; Coloboma; Female; Gestatio | 2005 |
[Phacoemulsification of intumescent cataract, IOL implantation and reconstruction of congenital iris coloboma through one anterior chamber superior opening. Case report].
Topics: Adult; Anterior Chamber; Cataract; Coloboma; Humans; Iris; Lens Implantation, Intraocular; Male; Pha | 2005 |
Iridic and retinal coloboma associated with prenatal methimazole exposure.
Topics: Antithyroid Agents; Coloboma; Female; Humans; Infant, Newborn; Intestines; Iris; Maternal Exposure; | 2005 |
The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.
Topics: Blepharoptosis; Brain; Child, Preschool; Choroid; Coloboma; Female; Humans; Hypertelorism; Intellect | 2005 |
Clinical ocular abnormalities in infants with trisomy 13.
Topics: Abnormalities, Multiple; Cataract; Chromosomes, Human, Pair 13; Coloboma; Fatal Outcome; Female; Hum | 2006 |
Modified flexible iris retractor to retract superior iris and support inferior capsule in eyes with iris coloboma and inferior zonular deficiency.
Topics: Coloboma; Humans; Iris; Lens Capsule, Crystalline; Lens Implantation, Intraocular; Lens, Crystalline | 2006 |
Surgical technique for congenital iris coloboma repair.
Topics: Adult; Coloboma; Female; Humans; Iris; Lens Implantation, Intraocular; Ophthalmologic Surgical Proce | 2006 |
New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.
Topics: Cataract; Coloboma; Crystallins; Female; Genes, Dominant; Genetic Linkage; Humans; Iris; Male; Micro | 2007 |
A modified iris repair technique and capsular tension ring insertion in a patient with coloboma with cataracts.
Topics: Aged; Cataract; Cataract Extraction; Coloboma; Female; Follow-Up Studies; Humans; Iris; Lens Implant | 2006 |
True polycoria or pseudo-polycoria?
Topics: Coloboma; Humans; Iris; Male; Middle Aged; Miosis; Pupil; Visual Acuity | 2007 |
Proboscis lateralis: case report and review.
Topics: Abnormalities, Multiple; Coloboma; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Infan | 2007 |
MICROCORNEA AND CONGENITAL COLOBOMA OF IRIS AND CHOROID IN ONE EYE WITH CONGENITAL GLAUCOMA AND CORNEAL OPACITY IN THE OTHER EYE.
Topics: Choroid; Coloboma; Cornea; Corneal Diseases; Corneal Opacity; Eye Abnormalities; Female; Functional | 1961 |
Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome.
Topics: Amino Acid Motifs; Anus, Imperforate; BH3 Interacting Domain Death Agonist Protein; Chromosomes, Hum | 2008 |
Novel SOX2 mutation associated with ocular coloboma in a Chinese family.
Topics: Abnormalities, Multiple; Adolescent; Adult; Arachnoid Cysts; Asian People; Cataract; China; Coloboma | 2008 |
Spontaneous nonpigmented iris cysts.
Topics: Anterior Chamber; Coloboma; Cysts; Diagnosis, Differential; Eye Neoplasms; Female; Humans; Infant; I | 1967 |
Silver staining of the supernumerary chromosome in the cat-eye syndrome.
Topics: Anus, Imperforate; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13-15; C | 1980 |
[A method of iris suturing during microsurgical operations of the anterior chamber of the eye in children].
Topics: Child; Coloboma; Humans; Iris; Iris Diseases; Microsurgery; Suture Techniques | 1983 |
[Reconstructive filling-in of wide defects in the iris as a result of eye injuries].
Topics: Adult; Coloboma; Humans; Iris; Male; Surgery, Plastic | 1984 |
Association of Hirschsprung's disease and imperforate anus in a patient with "cat-eye" syndrome. A report of one case and review of the literature.
Topics: Anus, Imperforate; Coloboma; Heart Septal Defects, Ventricular; Hirschsprung Disease; Humans; Infant | 1984 |
[Weill-Marchesani syndrome. Study of a case].
Topics: Abnormalities, Multiple; Coloboma; Female; Humans; Iris; Lens, Crystalline; Middle Aged; Mosaicism; | 1984 |
Cat-eye syndrome with unusual marker chromosome probably not chromosome 22.
Topics: Anus, Imperforate; Chromosome Banding; Chromosomes, Human, 21-22 and Y; Coloboma; Female; Genetic Ma | 1984 |
Hamartomatous adenoma of the nonpigmented ciliary epithelium arising in iris-ciliary body coloboma. Light and electron microscopic observations.
Topics: Adenoma; Child, Preschool; Ciliary Body; Coloboma; Epithelium; Humans; Iris; Male; Microscopy, Elect | 1983 |
Retinal disorders of childhood.
Topics: Anemia, Sickle Cell; Child; Child Abuse; Child, Preschool; Coloboma; Diabetic Retinopathy; Eye Injur | 1983 |
Congenital optic nerve colobomas: CT demonstration.
Topics: Abnormalities, Multiple; Coloboma; Corneal Diseases; Female; Humans; Infant; Infant, Newborn; Iris; | 1984 |
Colobomata of the iris, ciliary body and choroid in an infant with oesophago-tracheal fistula and congenital heart defects. An unknown malformation complex.
Topics: Abnormalities, Multiple; Choroid; Chromosome Inversion; Chromosomes, Human, 6-12 and X; Ciliary Body | 1980 |
Ocular defects and short stature.
Topics: Adolescent; Agenesis of Corpus Callosum; Child; Child, Preschool; Coloboma; Encephalocele; Eye Abnor | 1980 |
Ocular abnormalities in deletion of the long arm of chromosome 11.
Topics: Choroid; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 6-12 | 1981 |
[Complex colobomas in the anterior eye segment in a beagle hound].
Topics: Animals; Ciliary Body; Coloboma; Dog Diseases; Dogs; Iris; Male | 1982 |
Uveal coloboma associated with amniotic band syndrome.
Topics: Amniotic Band Syndrome; Coloboma; Female; Humans; Infant; Infant, Newborn; Iris; Microphthalmos; Uve | 1983 |
[Morphological and functional findings in a family with aniridia (author's transl)].
Topics: Adolescent; Adult; Blepharoptosis; Cataract; Child; Coloboma; Color Vision Defects; Cornea; Female; | 1981 |
[New method of partial transplantation of the iris].
Topics: Adolescent; Coloboma; Corneal Transplantation; Humans; Iris; Male; Methods; Suture Techniques | 1981 |
Repair of sector iris coloboma. Closed-chamber technique.
Topics: Coloboma; Humans; Intraoperative Complications; Iris; Lenses, Intraocular; Middle Aged; Suture Techn | 1982 |
Brief clinical report: dup(4p15 leads to 4pter) in a 19-year-old woman resulting from a maternal 4;14 translocation.
Topics: Abnormalities, Multiple; Adult; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 13 | 1982 |
Ectopic pupil in mice.
Topics: Animals; Coloboma; Female; Iris; Male; Mice; Mice, Inbred Strains; Pupil; Rodent Diseases | 1982 |
3:1 meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring.
Topics: Adult; Alleles; Chromosome Deletion; Chromosomes, Human, 13-15; Chromosomes, Human, 4-5; Coloboma; D | 1982 |
Cornea plana: a case report.
Topics: Aged; Biometry; Cataract; Coloboma; Cornea; Diagnosis, Differential; Eye; Female; Humans; Iris; Tube | 1982 |
Corectopia with nystagmus, absent foveal reflexes and corneal changes.
Topics: Adolescent; Adult; Child; Coloboma; Cornea; Corneal Opacity; Female; Fovea Centralis; Genes, Dominan | 1981 |
Brief Clinical Report: coloboma hypospadias.
Topics: Child; Chromosomes, Human; Coloboma; Dermatoglyphics; Humans; Hypospadias; Intellectual Disability; | 1981 |
Progressive lenticular astigmatism associated with nuclear sclerosis and coloboma of the iris, lens, and choroid: case report.
Topics: Adult; Astigmatism; Cataract; Choroid; Coloboma; Diplopia; Female; Follow-Up Studies; Humans; Iris; | 1981 |
Possible autosomal-recessive ocular coloboma.
Topics: Child, Preschool; Coloboma; Cysts; Female; Genes, Recessive; Humans; Infant; Iris; Male; Orbital Dis | 1981 |
Colobomatous microphthalmos with diaphragmatic eventration (a case report).
Topics: Abnormalities, Multiple; Choroid; Coloboma; Diaphragmatic Eventration; Humans; Infant; Iris; Male; M | 1981 |
Inheritance of microphthalmia with coloboma in the Australian shepherd dog.
Topics: Animals; Coloboma; Dog Diseases; Dogs; Female; Hair Color; Iris; Male; Microphthalmos | 1981 |
Partial trisomy 1 (q42 leads to ter).
Topics: Abnormalities, Multiple; Abortion, Spontaneous; Chromosomes, Human, 1-3; Coloboma; Female; Fetal Dis | 1980 |
Blepharophimosis syndrome: association with colobomatous microphthalmos.
Topics: Child, Preschool; Choroid; Coloboma; Eyelid Diseases; Humans; Iris; Male; Microphthalmos; Optic Disk | 1995 |
Blepharophimosis syndrome: an atypical case.
Topics: Adult; Blepharophimosis; Coloboma; Ectropion; Humans; Iris; Male; Marfan Syndrome | 1994 |
[Pathogenesis of secondary glaucoma after intraocular silicone oil administration].
Topics: Coloboma; Fluorocarbons; Glaucoma; Humans; Intraocular Pressure; Iris; Male; Middle Aged; Postoperat | 1994 |
Maternal derivation of inv dup (22) and clinical variation in cat-eye syndrome.
Topics: Chromosome Inversion; Chromosomes, Human, Pair 22; Coloboma; Genetic Variation; Humans; Infant, Newb | 1994 |
Photoreceptor orientation in iris coloboma.
Topics: Coloboma; Humans; Iris; Light; Male; Middle Aged; Photoreceptor Cells; Psychophysics; Pupil; Sensory | 1994 |
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata.
Topics: Abnormalities, Multiple; Cerebellum; Child, Preschool; Coloboma; Facial Bones; Female; Heart Septal | 1994 |
Congenital lens coloboma and associated pathologies.
Topics: Adolescent; Adult; Child; Choroid; Coloboma; Female; Humans; Iris; Lens, Crystalline; Male; Optic Di | 1993 |
Inferior congenital iris coloboma and IOL implantation.
Topics: Cataract Extraction; Coloboma; Humans; Iris; Lenses, Intraocular; Male; Middle Aged | 1993 |
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child, Preschool; Coloboma; Deafness; Female; | 1993 |
Provisionally unique autosomal recessive chondrodysplasia punctata syndrome.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Chondrodysplasia Punctata; Coloboma; Face; Female; | 1993 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
Topics: Abnormalities, Multiple; Adolescent; Blepharoptosis; Coloboma; Diagnosis, Differential; Humans; Hype | 1993 |
Bilateral optic disc colobomas and microphthalmos in a thoroughbred horse.
Topics: Animals; Coloboma; Cornea; Horse Diseases; Horses; Iris; Lens, Crystalline; Male; Microphthalmos; Re | 1993 |
Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism?
Topics: Child; Coloboma; Humans; Iris; Male; Mutation; Pedigree; Time Factors | 1995 |
Posterior segment neovascularization associated with optic nerve aplasia.
Topics: Coloboma; Electroretinography; Female; Humans; Infant; Iris; Male; Microphthalmos; Optic Disk; Optic | 1996 |
Simple iris coloboma in a Greek family.
Topics: Adolescent; Cataract; Coloboma; Female; Greece; Humans; Iris; Middle Aged; Pedigree | 1996 |
Ultrasonic evaluation of microphthalmos and coloboma. A discussion of 3 cases, with emphasis on microphthalmos with orbital cyst.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 13; | 1996 |
Cat eye syndrome and dystonia.
Topics: Adult; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 22; Coloboma; Dystonia | 1996 |
Identification of a cat eye syndrome using DNA sequence dosage analysis.
Topics: Abnormalities, Multiple; Adult; Anus, Imperforate; Chromosome Aberrations; Chromosome Disorders; Chr | 1996 |
Characterization of a derivative chromosome 17 by fish-technique.
Topics: Abnormalities, Multiple; Cerebellum; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1996 |
Systemic abnormalities associated with iris/nerve head/choroidal/retinal coloboma.
Topics: Adenoma; Adult; Choroid; Coloboma; Female; Fundus Oculi; Humans; Iris; Optic Disk; Pituitary Neoplas | 1996 |
Optic disc in fundus coloboma.
Topics: Adolescent; Adult; Child; Choroid; Coloboma; Female; Fundus Oculi; Humans; Iris; Male; Microphthalmo | 1996 |
A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.
Topics: Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 16; Coloboma; Cr | 1997 |
Focal dermal hypoplasia (Goltz's syndrome).
Topics: Abnormalities, Multiple; Adolescent; Brain; Choroid; Coloboma; Cornea; Eye Abnormalities; Female; Fo | 1997 |
Prenatal growth retardation associated with microcephaly, microphthalmos/iris coloboma and other congenital malformations in three siblings.
Topics: Abnormalities, Multiple; Coloboma; Fetal Growth Retardation; Humans; Infant, Newborn; Iris; Microcep | 1997 |
Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)
Topics: Brain; Coloboma; Hirschsprung Disease; Humans; Infant; Iris; Magnetic Resonance Imaging; Male; Micro | 1997 |
Congenital hypodontia of maxillary lateral incisors in association with coloboma of the iris and hypomaturation type of amelogenesis imperfecta in a large kindred.
Topics: Abnormalities, Multiple; Adult; Amelogenesis Imperfecta; Anodontia; Child; Coloboma; Dermatoglyphics | 1997 |
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.
Topics: Abnormalities, Multiple; Cerebellum; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1998 |
Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs.
Topics: Coloboma; Consanguinity; Facies; Female; Humans; Infant, Newborn; Intellectual Disability; Iris; Mal | 1998 |
Chorioretinal colobomas in a pediatric population.
Topics: Adolescent; Child; Child, Preschool; Choroid; Choroid Diseases; Coloboma; Female; Follow-Up Studies; | 1998 |
Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis.
Topics: Adolescent; Atrophy; Avitaminosis; Coloboma; Color Perception Tests; Dark Adaptation; Electrooculogr | 1999 |
Retinoblastoma in an eye with congenital uveal coloboma.
Topics: Blotting, Southern; Choroid; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair | 1998 |
High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Coloboma; Consanguinity; Corpus Callosum; Exop | 2000 |
Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex.
Topics: Child, Preschool; Ciliary Body; Coloboma; Hamartoma; Humans; Infant; Iris; Iris Diseases; Male; Pigm | 2000 |
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Topics: Abnormalities, Multiple; Adolescent; Body Weight; Child; Child, Preschool; Chromosome Deletion; Chro | 2000 |
Iris coloboma with iris heterochromia: a common association.
Topics: Adolescent; Child; Child, Preschool; Coloboma; Eye Color; Female; Humans; Iris; Iris Diseases; Male; | 2000 |
Hereditary optic pit and iris coloboma in three generations of a single family.
Topics: Coloboma; Eye Diseases, Hereditary; Female; Humans; Iris; Laser Coagulation; Male; Middle Aged; Opti | 2001 |
Five cases of microphthalmia with other ocular malformations.
Topics: Abnormalities, Multiple; Cataract; Child, Preschool; Choroid; Coloboma; Corneal Opacity; Eye Abnorma | 2001 |
Bilateral iridoretinal colobomas in a child with a Noonan phenotype.
Topics: Child, Preschool; Coloboma; Female; Humans; Iris; Noonan Syndrome; Retina | 2001 |
Prosthetic iris implantation for congenital, traumatic, or functional iris deficiencies.
Topics: Adult; Aged; Aniridia; Coloboma; Eye Injuries; Female; Glare; Humans; Intraoperative Complications; | 2001 |
[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings in monozygotic twins (MIM # 151 100)].
Topics: Adult; Child; Choroid; Coloboma; Diseases in Twins; Female; Humans; Hypertelorism; Iris; Male; Neuro | 2001 |
Consultation section. Cataract surgical problem.
Topics: Cataract; Cataract Extraction; Coloboma; Contact Lenses, Hydrophilic; Corneal Neovascularization; Ey | 2001 |
Mild Noonan phenotype associated with coloboma of the iris and choroid.
Topics: Adult; Choroid; Coloboma; Humans; Iris; Male; Noonan Syndrome; Phenotype | 2002 |
Functional visual loss in patients with bilateral ocular coloboma.
Topics: Adolescent; Adult; Child; Coloboma; Female; Humans; Iris; Male; Optic Nerve; Refractive Errors; Reti | 2002 |
Trisomy 22 with 'cat eye' anomaly.
Topics: Azure Stains; Chromosomes, Human; Chromosomes, Human, 21-22 and Y; Coloboma; Cytological Techniques; | 1977 |
[Microsurgery in injuries of the iris].
Topics: Coloboma; Corneal Transplantation; Emergencies; Humans; Iris; Lens, Crystalline; Lenses; Methods; Mi | 1977 |
Corneal changes in aniridia.
Topics: Adolescent; Adult; Cataract; Child; Child, Preschool; Coloboma; Corneal Dystrophies, Hereditary; Cor | 1979 |
Cytogenetic investigation of cat-eye syndrome.
Topics: Adult; Anus, Imperforate; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Chr | 1977 |
Ocular findings in triploidy.
Topics: Abnormalities, Multiple; Adolescent; Cataract; Chromosome Aberrations; Chromosome Disorders; Colobom | 1977 |
[Congenital colobomas (proceedings)].
Topics: Choroid; Coloboma; Diagnosis, Differential; Humans; Iris; Optic Nerve; Retina | 1979 |
[Case of long-term observation of a patient with iridoschisis].
Topics: Coloboma; Female; Follow-Up Studies; Humans; Iris; Middle Aged; Time Factors | 1979 |
Congenital contractural arachnodactyly and intraocular colobomas.
Topics: Adolescent; Adult; Child; Choroid; Coloboma; Contracture; Female; Genes, Dominant; Humans; Infant; I | 1979 |
[Axenfeld-Rieger syndrome (author's transl)].
Topics: Child; Coloboma; Cornea; Female; Glaucoma; Humans; Iris; Middle Aged; Syndrome | 1979 |
[Double optic papilla in eye coloboma (author's transl)].
Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; Eye Neoplasms; Female; Humans; Iris; Leukoplaki | 1978 |
[On the aetiology of coloboma of the lens (author's transl)].
Topics: Adult; Aged; Child; Coloboma; Eye Injuries; Gonioscopy; Humans; Iris; Lens, Crystalline; Male; Middl | 1978 |
Selective atrophy in the lateral geniculate nucleus associated with iris coloboma in cat.
Topics: Animals; Atrophy; Cat Diseases; Cats; Coloboma; Geniculate Bodies; Iris; Light; Sensory Deprivation | 1977 |
[Tuberous sclerosis with megalocornea and coloboma of the iris (author's transl)].
Topics: Abnormalities, Multiple; Child, Preschool; Coloboma; Corneal Diseases; Humans; Iris; Ophthalmoscopy; | 1976 |
Congenital duplication of the lens.
Topics: Coloboma; Humans; Infant; Iris; Lens, Crystalline; Male | 1976 |
The use of contact B mode ultrasound in pediatric ophthalmology.
Topics: Adult; Cataract; Child, Preschool; Coloboma; Corneal Opacity; Eye Diseases; Humans; Infant; Infant, | 1976 |
Suppressor cell activity in a male infant with T-and B-lymphocyte dysfunction treated with thymosin.
Topics: B-Lymphocytes; Coloboma; Concanavalin A; Humans; Immunoglobulin A; Immunoglobulin G; Immunoglobulin | 1976 |
IV. Iris suture and iridopexy.
Topics: Child; Coloboma; Eye Diseases; Humans; Iris; Male; Microsurgery; Nylons; Pupil; Suture Techniques; S | 1975 |
Evaluation of intraocular lens fixation in pseudophakia.
Topics: Cataract Extraction; Child, Preschool; Coloboma; Corneal Dystrophies, Hereditary; Corneal Transplant | 1975 |
Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.
Topics: Abnormalities, Multiple; Bone and Bones; Central Nervous System; Coloboma; Female; Heart Defects, Co | 1975 |
[Coloboma of the iris and anal atresia. Cat eye syndrome. Schmid-Fraccaro's syndrome].
Topics: Anus, Imperforate; Child, Preschool; Coloboma; Eye Diseases; Female; Humans; Iris; Syndrome | 1975 |
[Association of striated vitreum, iritic coloboma, and hereditary cataract].
Topics: Adult; Cataract; Coloboma; Female; Humans; Iris; Male; Middle Aged; Vitreous Body | 1975 |
[Surgical removal of congenital coloboma of the iris in both eyes].
Topics: Adult; Coloboma; Female; Humans; Iris | 1975 |
[2. Obesity due to overeating. Symptoms and classification of various forms of obesity].
Topics: Abnormalities, Multiple; Child; Child Nutritional Physiological Phenomena; Coloboma; Diabetes Mellit | 1975 |
[Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes].
Topics: Abnormalities, Multiple; Anus, Imperforate; Child, Preschool; Chromosome Aberrations; Chromosome Dis | 1992 |
Surgical treatment of retinal detachment in the choroidal colobomas.
Topics: Adult; Child; Choroid; Coloboma; Female; Fundus Oculi; Humans; Iris; Light Coagulation; Male; Optic | 1992 |
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome.
Topics: Agenesis of Corpus Callosum; Child; Coloboma; Corpus Callosum; Hirschsprung Disease; Humans; Iris; M | 1992 |
Retinoblastoma, microphthalmia, coloboma, and neuroepithelioma of the pineal body.
Topics: Abnormalities, Multiple; Brain Neoplasms; Choroid; Coloboma; Eye Neoplasms; Humans; Infant; Iris; Ma | 1992 |
Typical ocular coloboma affects three generations in one family.
Topics: Adult; Choroid; Coloboma; Female; Fundus Oculi; Humans; Infant; Iris; Male; Middle Aged; Optic Disk; | 1992 |
Blepharophimosis, iris coloboma, microgenia, hearing loss, postaxial polydactyly, aplasia of corpus callosum, hydroureter, and developmental delay.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Child, Preschool; Coloboma; Developmental Disa | 1990 |
Midline facial defects with ocular colobomata.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Coloboma; Developmental Disabilities; Face; Female | 1990 |
Nd:YAG laser cellular cleansing of intraocular lenses: results of ten consecutive patients.
Topics: Cataract Extraction; Coloboma; Humans; Iris; Lenses, Intraocular; Light Coagulation; Treatment Outco | 1991 |
New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders.
Topics: Abnormalities, Multiple; Anophthalmos; Anus, Imperforate; Coloboma; Congenital Hypothyroidism; Growt | 1991 |
White sponge naevus and ocular coloboma.
Topics: Adult; Child, Preschool; Coloboma; Female; Genes, Dominant; Hernia, Inguinal; Humans; Iris; Leukopla | 1991 |
Repair of iris coloboma by a closed chamber technique.
Topics: Coloboma; Humans; Iris | 1990 |
Coloboma: evaluation with real-time sonography.
Topics: Adult; Chronic Disease; Coloboma; Female; Humans; Iris; Optic Disk; Retinal Detachment; Ultrasonogra | 1990 |
The Yemenite deaf-blind hypopigmentation syndrome. A new oculo-dermato-auditory syndrome.
Topics: Abnormalities, Multiple; Blindness; Child; Coloboma; Cytogenetics; Deafness; Female; Humans; Iris; M | 1990 |
Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities.
Topics: Abnormalities, Multiple; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 4; Colobo | 1990 |
Rieger anomaly and uveal coloboma with associated anomalies. Third observation of a rare oculo-palato-osseous syndrome--the Abruzzo-Erikson syndrome.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Child, Preschool; Cleft Palate; Coloboma; Facial B | 1990 |
Alobar holoprosencephaly, diabetes insipidus and coloboma without craniofacial abnormalities: a case report.
Topics: Abnormalities, Multiple; Brain; Coloboma; Diabetes Insipidus; Humans; Infant; Iris; Male | 1990 |
The spectrum of clinical features in CHARGE syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Central Nervous System Diseases; Child, Preschool; Choan | 1986 |
Limb anomalies in the CHARGE association.
Topics: Abnormalities, Multiple; Anus, Imperforate; Choanal Atresia; Coloboma; Developmental Disabilities; F | 1989 |
Cat eye syndrome associated with aganglionosis of the small and large intestine.
Topics: Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair 22; Coloboma; Ganglia, Parasy | 1989 |
Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association.
Topics: Abnormalities, Multiple; Adolescent; Cleft Palate; Coloboma; Dwarfism; Ear; Follow-Up Studies; Heari | 1989 |
Neurophysiological correlates in a case of unilateral iris and chorioretinal coloboma.
Topics: Child; Choroid; Coloboma; Electroretinography; Fundus Oculi; Humans; Iris; Male; Retina; Visual Acui | 1989 |
Odontodysplasia associated with orbital coloboma.
Topics: Child; Coloboma; Humans; Iris; Male; Odontodysplasia; Tooth | 1988 |
Iris coloboma, ptosis, hypertelorism, and mental retardation.
Topics: Coloboma; Diagnosis, Differential; Humans; Infant; Iris; Male; Noonan Syndrome | 1989 |
Additional eye findings in a girl with the velo-cardio-facial syndrome.
Topics: Abnormalities, Multiple; Child; Coloboma; Eye Abnormalities; Facial Asymmetry; Female; Heart Defects | 1986 |
Ocular coloboma associated with a solitary maxillary central incisor and growth failure: manifestations of holoprosencephaly.
Topics: Abnormalities, Multiple; Cataract; Choroid; Coloboma; Eye Abnormalities; Growth Disorders; Humans; I | 1987 |
Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.
Topics: Coloboma; Consanguinity; Female; Hirschsprung Disease; Humans; Infant, Newborn; Iris; Male; Microcep | 1988 |
Superotemporal coloboma of the iris, ciliary body, and choroid.
Topics: Choroid; Ciliary Body; Coloboma; Female; Humans; Infant; Iris | 1988 |
Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.
Topics: Abnormalities, Multiple; Anus, Imperforate; Child, Preschool; Chromosome Banding; Chromosomes, Human | 1988 |
Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22).
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosom | 1988 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
Topics: Abnormalities, Multiple; Blepharoptosis; Body Height; Bone Diseases, Developmental; Child; Child, Pr | 1988 |
Ophthalmic midline dysgenesis in Kallmann syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Coloboma; Humans; Hypogonadism; Iris; Lacrimal Apparatus | 1987 |
[Short stature, mental retardation, type I preaxial polydactyly with colobomatous abnormalities: a new syndrome].
Topics: Adolescent; Adult; Choroid; Coloboma; Dwarfism; Female; Humans; Intellectual Disability; Iris; Male; | 1987 |
Re-evaluation of the supernumerary chromosome in an individual with cat eye syndrome.
Topics: Abnormalities, Multiple; Aneuploidy; Anus, Imperforate; Chromosomes, Human, Pair 22; Coloboma; Genet | 1987 |
Proximal duplication of the long arm of chromosome 10 (10q11.2----10q22): a distinct clinical entity.
Topics: Abnormalities, Multiple; Adolescent; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1987 |
Sodium hyaluronate (Healon) in the repair of perforating injuries of the eye.
Topics: Coloboma; Corneal Injuries; Eye Injuries; Humans; Hyaluronic Acid; Intraocular Pressure; Iris; Lens | 1986 |
Cataract extraction in eyes with congenital colobomata.
Topics: Aged; Cataract; Cataract Extraction; Choroid; Coloboma; Female; Humans; Iris; Male; Middle Aged; Ret | 1987 |
Histopathologic study of ocular changes in a syndrome of multiple congenital anomalies.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Coloboma; Humans; Infant; Iris; Male; Optic Ne | 1987 |
[Ophthalmologic findings in 11 q-deletion syndrome].
Topics: Blepharoptosis; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 11; Coloboma; Eye Di | 1987 |
Ocular coloboma and hypothalamic hypogonadism. Case report.
Topics: Coloboma; Humans; Hypogonadism; Hypothalamic Diseases; Iris; Male; Middle Aged | 1987 |
Corneal changes in familial iris coloboma.
Topics: Adolescent; Adult; Aged; Coloboma; Cornea; Female; Genes, Dominant; Humans; Iris; Male; Pedigree | 1986 |
Inverted duplication of 22pter----q11.21 in cat-eye syndrome.
Topics: Abnormalities, Multiple; Anus, Imperforate; Branchial Region; Chromosome Aberrations; Chromosome Inv | 1986 |
Hereditary colobomatous anomalies of the optic nerve head.
Topics: Abnormalities, Multiple; Adult; Child, Preschool; Choroid; Coloboma; Female; Humans; Iris; Male; Opt | 1986 |
Corneal changes in familial iris coloboma.
Topics: Coloboma; Cornea; Humans; Iris | 1986 |
[On congenital colobomas of the iris and aniridia].
Topics: Adult; Child; Coloboma; Female; Humans; Iris; Male; Middle Aged | 1986 |
Corneal involvement in autosomal dominant coloboma/microphthalmos.
Topics: Adult; Amblyopia; Chromosome Aberrations; Chromosome Disorders; Coloboma; Cornea; Female; Genes, Dom | 1986 |
Cat's eye syndrome with cleft soft palate.
Topics: Abnormalities, Multiple; Child, Preschool; Cleft Palate; Coloboma; Genetic Markers; Humans; Iris; Ma | 1985 |
Marker chromosome in cat eye syndrome.
Topics: Anus, Imperforate; Chromosome Aberrations; Coloboma; Female; Genetic Markers; Humans; Iris; Male; Sy | 1985 |
The Marinesco-Sjögren syndrome: polygraphic study of nocturnal sleep.
Topics: Adolescent; Adult; Cataract; Cerebellar Ataxia; Child; Choroid; Coloboma; Electromyography; Humans; | 1985 |
Rieger's and Williams syndrome. A rare clinical case.
Topics: Abnormalities, Multiple; Anterior Eye Segment; Child; Coloboma; Dentition; Female; Genes, Dominant; | 1985 |
Anophthalmos and first branchial arch defects.
Topics: Abnormalities, Multiple; Anophthalmos; Branchial Region; Coloboma; Ear; Humans; Infant; Iris; Jaw Ab | 1985 |
Agenesis of the corpus callosum in the median facial cleft syndrome and associated ocular malformations.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Coloboma; Cornea; Craniofacial Dysostosis; Ecz | 1973 |
Arhinencephaly unilateralis, uveal coloboma, and lens reduplication.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Choroid; Ciliary Body; Coloboma; Craniofacial Dyso | 1974 |
The cat eye syndrome.
Topics: Anus, Imperforate; Body Weight; Cephalometry; Chromosome Aberrations; Chromosome Disorders; Chromoso | 1974 |
[Malformations of the eye and associated structures, and their treatment].
Topics: Albinism; Blepharoptosis; Cataract; Coloboma; Craniofacial Dysostosis; Eye Abnormalities; Eye Diseas | 1974 |
Ocular changes in simple trisomy and in a few cases of partial trisomy.
Topics: Abnormalities, Multiple; Adolescent; Cataract; Child; Child, Preschool; Chromosome Aberrations; Chro | 1968 |
[Study of iridoschisis].
Topics: Adolescent; Adult; Aged; Atrophy; Cataract; Child; Coloboma; Eye Diseases; Eye Foreign Bodies; Femal | 1970 |
[Study of iridoschisis].
Topics: Aged; Atrophy; Coloboma; Diagnosis, Differential; Eye Diseases; Female; Glaucoma; Humans; Hypertensi | 1970 |
[The anterior stroma layer of the iris as an example for the biomorphosis of collagenous connective tissue].
Topics: Adult; Age Factors; Aged; Aging; Coloboma; Color; Connective Tissue; Connective Tissue Cells; Glycos | 1972 |
Fluorescein angiography of the vessels of the iris in pseudoexfoliation of the lens capsule, capsular glaucoma and some other forms of glaucoma.
Topics: Adult; Aged; Angiography; Atrophy; Coloboma; Eye Diseases; Female; Fluoresceins; Glaucoma; Gonioscop | 1969 |
Extrapupillary iris lens in aphakia.
Topics: Coloboma; Dilatation; Humans; Iris; Lenses; Reflex, Pupillary; Surgical Procedures, Operative | 1974 |
Some ideas on the time sequence of chromosome function in human organogenesis.
Topics: Choroid; Chromosome Aberrations; Chromosome Disorders; Chromosome Mapping; Chromosomes, Human, 13-15 | 1974 |
[Genetic counseling in eye diseases (author's transl)].
Topics: Cataract; Coloboma; Eye Diseases; Eye Neoplasms; Family Planning Services; Female; Genetic Counselin | 1973 |
[Operation for senile cataract in eyes with congenital coloboma of the uvea].
Topics: Aged; Cataract Extraction; Chymotrypsin; Coloboma; Eye Abnormalities; Female; Follow-Up Studies; Hum | 1972 |
Ocular anomalies in trisomy 13-15: an analysis of 13 eyes with two new findings.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Cartilage; Chromosomes, Human, 13-15; Coloboma; Co | 1972 |
Bilateral oro-ocular cleft. Case report.
Topics: Abnormalities, Multiple; Choroid; Cleft Palate; Coloboma; Eye Abnormalities; Face; Female; Humans; I | 1973 |
[Agenesis of the corpus callosum, median facial fissure syndrome, and eye malformations].
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Choroid; Coloboma; Cornea; Craniofacial Dysost | 1972 |
Pupillary block and angle-closure glaucoma.
Topics: Coloboma; Eye Diseases; Glaucoma; Humans; Iris; Male; Middle Aged; Postoperative Complications; Pupi | 1972 |
Gonioscopy during surgery for aphakic eyes with pupillary block.
Topics: Adult; Aged; Anterior Chamber; Aqueous Humor; Coloboma; Cornea; Female; Glaucoma; Gonioscopy; Humans | 1972 |
[Malformation-retardation syndrome with lobster claws, coloboma of the iris, renal agenesia and ventricular septal defect].
Topics: Abnormalities, Multiple; Coloboma; Foot Deformities, Congenital; Hand Deformities, Congenital; Heart | 1972 |
Clinical characteristics of microphthalmia with colobomas of the Australian Shepherd Dog.
Topics: Abnormalities, Multiple; Animals; Cataract; Choroid; Coloboma; Cornea; Dog Diseases; Dogs; Fundus Oc | 1973 |
[Syndrome of the 1st branchial arch].
Topics: Abnormalities, Multiple; Adult; Coloboma; Dermoid Cyst; Eye Neoplasms; Humans; Intellectual Disabili | 1973 |
Idiopathic cyst of the iris stroma.
Topics: Anterior Chamber; Ciliary Body; Coloboma; Cysts; Epithelial Cells; Epithelium; Eye Diseases; Female; | 1973 |
Congenital cardiac disease and the "cat eye" syndrome.
Topics: Abnormalities, Multiple; Adolescent; Anal Canal; Azygos Vein; Child; Child, Preschool; Choroid; Chro | 1973 |
Ocular pathology in trisomy 18(Edwards' syndrome).
Topics: Abnormalities, Multiple; Adult; Chromosomes, Human, 16-18; Coloboma; Cysts; Epithelium; Eye; Eye Dis | 1973 |
Ocular movement disturbances in a family with trisomy 22 syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child, Preschool; Chromosomes, Human, 21-22 and Y; Colob | 1973 |
[Identification of the small submetacentric supernumerary chromosome in the cat's-eye syndrome].
Topics: Adult; Choroid; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Colobo | 1973 |
Schmid-Fraccaro syndrome ("cat's eye" syndrome).
Topics: Abnormalities, Multiple; Adolescent; Anus, Imperforate; Cataract; Child; Choroid; Coloboma; Craniofa | 1973 |
[Cat-eye syndrome].
Topics: Abnormalities, Multiple; Adult; Anal Canal; Child, Preschool; Chromosome Aberrations; Chromosome Dis | 1973 |
Heterochromia iridum with coloboma of the optic disc.
Topics: Cataract; Cataract Extraction; Coloboma; Eye Diseases; Female; Fundus Oculi; Humans; Iris; Middle Ag | 1973 |
Humeroradial synostosis. A case report.
Topics: Abnormalities, Multiple; Choroid; Chromosomes; Coloboma; Dermatoglyphics; Female; Humans; Humerus; I | 1973 |
[The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome (author's transl)].
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Coloboma; Congenital Abnormalities; Cornea; Diagno | 1973 |
[Findings in the anterior chamber angle after cataract extraction without complication (author's transl)].
Topics: Anterior Chamber; Cataract; Cataract Extraction; Coloboma; Follow-Up Studies; Glaucoma; Gonioscopy; | 1974 |
[On iris sutures].
Topics: Coloboma; Humans; Iris; Methods; Suture Techniques | 1968 |
Inherited variation in Rieger's malformation.
Topics: Adult; Aged; Child; Coloboma; Cornea; Eye Abnormalities; Female; Humans; Iris; Male; Middle Aged | 1965 |
Unilateral microcornea and enophthalmos with bilateral anterior and posterior anomalies.
Topics: Child; Choroid; Coloboma; Cornea; Eye Abnormalities; Female; Humans; Iris; Microphthalmos; Myopia; P | 1967 |
[Clinical and electronystagmographic study of 50 subjects with so-called "congenital" nystagmus].
Topics: Adolescent; Adult; Albinism; Cataract; Child; Child, Preschool; Coloboma; Electrooculography; Eye Ab | 1968 |
[Clinico-therapeutic considerations on some cases of congenital malformations of the iris and on their complications].
Topics: Adolescent; Adult; Cataract; Child; Child, Preschool; Coloboma; Corneal Dystrophies, Hereditary; Eye | 1966 |
Spontaneous retinal ablation in a case with congenital anomalities of the eye.
Topics: Child; Coloboma; Eye Abnormalities; Fundus Oculi; Humans; Iris; Lens, Crystalline; Male; Retinal Det | 1968 |
[Eye abnormalities of a child with an extra chromosome fragment].
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Coloboma; E | 1968 |
Cataract extraction in a case of congenital coloboma of the iris.
Topics: Cataract Extraction; Coloboma; Eye Abnormalities; Female; Humans; Intraocular Pressure; Iris; Middle | 1968 |
[Circumpupillary aplasia of the iris. (Case report)].
Topics: Blepharoptosis; Cataract; Child; Child, Preschool; Coloboma; Eye Abnormalities; Female; Humans; Infa | 1967 |
[An atypical case of tapeto-retinal degeneration associated with coloboma of the iris and with whitish foci in the lower retinal quadrants].
Topics: Adult; Choroid; Coloboma; Eye Abnormalities; Eye Diseases; Humans; Iris; Male; Retina; Retinal Degen | 1967 |
Anomalies of the eyes in descendants of women, irradiated with small X-ray doses during age of fertility.
Topics: Adolescent; Adult; Atrophy; Choroid; Coloboma; Eye Abnormalities; Female; Fetus; Humans; Iris; Male; | 1968 |
Intraocular cartilage in a microphthalmic eye of an otherwise healthy girl.
Topics: Abnormalities, Multiple; Adipose Tissue; Cartilage; Ciliary Body; Coloboma; Eye; Eye Abnormalities; | 1969 |
[Iridoschisis in a girl with karyotype 48 XXXX].
Topics: Child; Coloboma; Dermatoglyphics; Eye Abnormalities; Female; Humans; Intellectual Disability; Iris; | 1969 |
[The current status of the problem of implantation of intraocular lenses and intracorneal implants].
Topics: Acrylates; Albinism; Anterior Chamber; Cataract Extraction; Coloboma; Cornea; Diplopia; Eye Abnormal | 1969 |
Colobomatous malformations of the ocular globe.
Topics: Anophthalmos; Choroid; Coloboma; Congenital Abnormalities; Eye Abnormalities; Genes, Dominant; Genes | 1968 |
[Coloboma of iris and choroid in a patient with XYY-syndrome].
Topics: Abnormalities, Multiple; Adult; Choroid; Coloboma; Eye Abnormalities; Humans; Iris; Juvenile Delinqu | 1970 |
[Iridoschisis: 3 cases].
Topics: Aged; Coloboma; Eye Abnormalities; Female; Humans; Iris; Middle Aged | 1968 |
Ocular pathology of Patau's syndrome with an unbalanced D-D translocation.
Topics: Abnormalities, Multiple; Anterior Chamber; Autopsy; Chromosomes, Human, 1-3; Chromosomes, Human, 13- | 1970 |
[Association of an iris and lens coloboma with a concentric narrowing of the color visual field].
Topics: Adult; Coloboma; Color Perception; Congenital Abnormalities; Eye Abnormalities; Humans; Iris; Lens, | 1970 |
[On an unusual form of atypical coloboma of the iris (triangular dyscoria)].
Topics: Coloboma; Eye Abnormalities; Female; Humans; Iris; Middle Aged | 1969 |
[A case of atypical Marfan's syndrome with epilepsy, oligophrenia and coloboma of the iris].
Topics: Adult; Coloboma; Electrocardiography; Electroencephalography; Epilepsy, Tonic-Clonic; Eye Abnormalit | 1969 |
Colobomas in non-human primates.
Topics: Animals; Choroid; Coloboma; Congenital Abnormalities; Eye; Eye Abnormalities; Haplorhini; Hominidae; | 1971 |
Uveal colobomata and other anomalies in three generations of one family.
Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Child, Preschool; Cleft Lip; Cleft Palate; Coloboma; | 1971 |
Ocular colobomas in domestic cats.
Topics: Animals; Cat Diseases; Cats; Choroid; Coloboma; Congenital Abnormalities; Eye Abnormalities; Eyelids | 1971 |
[Progressive iris atrophy and iridosohisis].
Topics: Age Factors; Aged; Coloboma; Eye Abnormalities; Humans; Iris; Male; Sex Factors | 1971 |
[Familial irido-crystalline abnormalities].
Topics: Adult; Blepharoptosis; Cataract; Child; Child, Preschool; Coloboma; Female; Humans; Hyperopia; Iris; | 1972 |
Coloboma of the iris and choroid and retinal detachment in oculo-auricular dysplasia (Goldenhar syndrome).
Topics: Abnormalities, Multiple; Adult; Choroid; Coloboma; Dermoid Cyst; Eye Neoplasms; Humans; Iris; Male; | 1972 |
A newborn with the cat-eye syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Anal Canal; Autoradiography; Cells, Cultured; Child; Chi | 1972 |
Dermatoglyphics and chromosomes in cat-eye syndrome.
Topics: Anal Canal; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Coloboma; Dermatoglyphic | 1971 |
Dermatoglyphics and chromosomes in cat-eye syndrome.
Topics: Anal Canal; Chromosome Aberrations; Chromosome Disorders; Coloboma; Dermatoglyphics; Humans; Infant, | 1971 |
Heterochromia associated with coloboma of the iris.
Topics: Animals; Child; Coloboma; Eye Diseases; Female; Humans; Iris; Middle Aged; Pigmentation Disorders; R | 1971 |
[New indications for fluorescein angiography of the anterior segment].
Topics: Albinism; Coloboma; Diabetic Retinopathy; Eye Diseases; Eye Injuries; Eye Neoplasms; Female; Fluores | 1971 |
Cryoextraction of the lens.
Topics: Cataract Extraction; Coloboma; Corneal Injuries; Cryosurgery; Humans; Iris; Retina; Vitreous Body | 1969 |
Genetical aspects of severe visual impairment in childhood.
Topics: Anophthalmos; Cataract; Child; Child, Preschool; Chorioretinitis; Chromosome Aberrations; Chromosome | 1970 |
[Genetic consultations in ophthalmology].
Topics: Cataract; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Coloboma; Diagnosis | 1969 |
Perforating and non-perforating acrylic corneal implants, including the Choyce 2-piece perforating kerato-prosthesis.
Topics: Acrylic Resins; Aged; Albinism; Coloboma; Cornea; Eye Diseases; Female; Humans; Iris; Methods; Panop | 1969 |
[A case of Ullrich-Fremerey-Dohna-François syndrome (dysostosis oculo-mandibulo-facialis)].
Topics: Abnormalities, Multiple; Alopecia; Atrophy; Cataract; Coloboma; Dwarfism; Humans; Iris; Male; Mandib | 1969 |
Bilateral colobomas of iris and choroid. Association with partial deletion of a chromosome of group D.
Topics: Abnormalities, Multiple; Choroid; Chromosome Aberrations; Chromosome Disorders; Coloboma; Eye; Human | 1970 |
[Iridoschisis and hypertonia].
Topics: Aged; Coloboma; Female; Glaucoma; Humans; Intraocular Pressure; Iris | 1970 |
[On the manifestation types of aniridia with reference to a family in Schleswig-Holstein].
Topics: Adult; Child; Child, Preschool; Coloboma; Diagnosis, Differential; Eye Diseases; Female; Genetics, M | 1967 |
[A new iris retractor].
Topics: Coloboma; Cryosurgery; Humans; Iris; Lens, Crystalline; Surgical Instruments | 1968 |
[A case of iridoschis associated with glaucoma].
Topics: Aged; Coloboma; Glaucoma; Humans; Iris; Male | 1968 |
[Glaucoma in aniridia(apparent) or irideremia].
Topics: Adolescent; Child, Preschool; Coloboma; Eye Diseases; Female; Glaucoma; Humans; Infant; Intraocular | 1968 |
Varieties of congenital glaucoma.
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Child; Coloboma; Cornea; Glaucoma; Humans; Iris; M | 1968 |
[A case of iridoschisis after cryoextraction of cataract with iridectomy].
Topics: Aged; Cataract Extraction; Coloboma; Cryosurgery; Humans; Iris; Male | 1969 |
Goniodysgenesis and pigmentary glaucoma.
Topics: Adult; Anterior Chamber; Coloboma; Diseases in Twins; Female; Glaucoma; Gonioscopy; Humans; Iris; Ma | 1969 |
Studies on the development of the eye in the 13-15 trisomy syndrome.
Topics: Child, Preschool; Coloboma; Eye Diseases; Female; Humans; Iris; Karyotyping; Trisomy | 1965 |
[On optico-cosmetic surgical treatment of large iris colobomas (colored corneal tattooing)].
Topics: Adult; Coloboma; Cornea; Eye Diseases; Humans; Iris; Male; Tattooing | 1965 |
[On a case of simple coloboma of the iris].
Topics: Adult; Coloboma; Glaucoma; Humans; Iris; Male | 1965 |
[Iridoschisis].
Topics: Coloboma; Eye Diseases; Humans; Iris; Male; Middle Aged | 1965 |
[Age-related changes in the iris and ciliary body].
Topics: Adult; Aged; Aging; Ciliary Body; Coloboma; Eye Diseases; Humans; Iris; Lens, Crystalline; Middle Ag | 1966 |
[A case of iridoschisis].
Topics: Aged; Coloboma; Humans; Iris; Male | 1966 |