2-propanol has been researched along with Abnormalities, Autosome in 93 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.
| 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) |
| "The most frequent findings were mental retardation, prenatal and postnatal failure, epicanthal folds, flat nasal bridge, short neck, apparently low-set and/or malformed ears, microphthalmia, and micrognathia." | 2.37 | Ring chromosome 6: report of a patient and literature review. ( Chitayat, D; Hahm, SY; Iqbal, MA; Nitowsky, HM, 1987) |
| "The biologic peculiarities of tumors of early life are elucidated." | 2.35 | Neoplasia of early life and its relationships to teratogenesis. ( Bolande, RP, 1976) |
| "Retinoblastoma, nephroblastoma and sympathoblastoma may be related to genome modification." | 1.27 | [Chromosome 11 and cancer]. ( Gilgenkrantz, S; Gregoire, MJ; Himont, F; Pernot, C; Pierson, M, 1983) |
| "Karotype studies showed several chromosomal abnormalities following radiotherapy." | 1.27 | Fibroblast radiosensitivity and intraocular fibrovascular proliferation following radiotherapy for bilateral retinoblastoma. ( Albert, DM; Cassady, JR; Leombruno, D; Little, JB; Puliafito, CA; Trantravahi, R; Walton, DS; Weichselbaum, RR, 1986) |
| " The chromosomic micro-deletion can be shown by using highly sophisticated cytogenetic techniques, or suspected by blood enzymatic dosage (mainly catalase)." | 1.27 | [WAGR syndrome, Wilms' tumor, aniridia, gonadoblastoma, mental retardation: a review apropos of 2 cases]. ( Blanc, JF; Mochon, MC; Philip, T; Plauchu, H, 1987) |
| "The maculas showed subretinal hemorrhages, glial cicatrization of the outer retinal layers, and profound choroidal atrophy, particularly in the advanced stages of the disease." | 1.26 | Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. ( Alanko, HI; Eriksson, AW; Forsius, HR; Suvanto, EA, 1982) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 78 (83.87) | 18.7374 |
| 1990's | 9 (9.68) | 18.2507 |
| 2000's | 4 (4.30) | 29.6817 |
| 2010's | 1 (1.08) | 24.3611 |
| 2020's | 1 (1.08) | 2.80 |
| Authors | Studies |
|---|---|
| Wierenga, APA | 1 |
| Brouwer, NJ | 1 |
| Gelmi, MC | 1 |
| Verdijk, RM | 1 |
| Stern, MH | 1 |
| Bas, Z | 1 |
| Malkani, K | 1 |
| van Duinen, SG | 1 |
| Ganguly, A | 1 |
| Kroes, WGM | 1 |
| Marinkovic, M | 1 |
| Luyten, GPM | 1 |
| Shields, CL | 1 |
| Jager, MJ | 1 |
| Al-Owaid, A | 1 |
| Alarfaj, M | 1 |
| Al-Qahtani, A | 1 |
| Al-Arfaj, K | 1 |
| Ohlmann, A | 1 |
| Tamm, ER | 1 |
| LELE, KP | 1 |
| DENT, T | 1 |
| DELHANTY, JD | 1 |
| Ekong, R | 1 |
| Jeremiah, S | 1 |
| Judah, D | 1 |
| Lehmann, O | 1 |
| Mirzayans, F | 1 |
| Hung, YC | 1 |
| Walter, MA | 1 |
| Bhattacharya, S | 1 |
| Gant, TW | 1 |
| Povey, S | 1 |
| Wolfe, J | 1 |
| Dressler, P | 1 |
| Gramer, E | 1 |
| Kutzbach, B | 1 |
| Mendelsohn, N | 1 |
| Rath, P | 1 |
| Summers, CG | 1 |
| Edwards, JH | 1 |
| Yuncken, C | 1 |
| Rushton, DI | 1 |
| Richards, S | 1 |
| Mittwoch, U | 1 |
| Leão, JC | 1 |
| Bargman, GJ | 1 |
| Neu, RL | 1 |
| Kajii, T | 2 |
| Gardner, LI | 1 |
| Petit, P | 1 |
| Godart, S | 1 |
| Fryns, JP | 3 |
| Kolata, GB | 1 |
| Yunis, JJ | 2 |
| Ramsay, NK | 1 |
| Zhordania, RV | 1 |
| Kulagina, OE | 1 |
| Bukhny, AE | 1 |
| Sotnikova, EN | 1 |
| François, J | 2 |
| Verschraegen-Spae, MR | 1 |
| De Sutter, E | 1 |
| Lewandowski, RC | 1 |
| De Blois, M | 1 |
| Philip, T | 2 |
| Lenoir, GM | 1 |
| Junien, C | 2 |
| Laurent, C | 1 |
| Robert, JM | 1 |
| Gregoire, MJ | 1 |
| Pernot, C | 1 |
| Himont, F | 1 |
| Pierson, M | 1 |
| Gilgenkrantz, S | 1 |
| Bateman, JB | 1 |
| Sparkes, MC | 1 |
| Sparkes, RS | 1 |
| Ferry, AP | 1 |
| Marchevsky, A | 1 |
| Strauss, L | 1 |
| Torczynski, E | 1 |
| Calderone, JP | 1 |
| Chess, J | 1 |
| Borodic, G | 1 |
| Albert, DM | 3 |
| Ferrell, RE | 2 |
| Chakravarti, A | 1 |
| Hittner, HM | 2 |
| Riccardi, VM | 3 |
| Schanzlin, DJ | 1 |
| Goldberg, DB | 1 |
| Brown, SI | 1 |
| Clark, CE | 1 |
| Telfer, MA | 1 |
| Cowell, HR | 1 |
| Kalamchi, A | 1 |
| Steg, NL | 1 |
| Niikawa, N | 1 |
| Fukushima, Y | 1 |
| Taniguchi, N | 1 |
| Iizuka, S | 1 |
| Forsius, HR | 1 |
| Eriksson, AW | 1 |
| Suvanto, EA | 1 |
| Alanko, HI | 1 |
| Cebon, L | 1 |
| West, RH | 1 |
| Borda, RR | 1 |
| Justice, J | 1 |
| Warburg, M | 2 |
| Mikkelsen, M | 1 |
| Andersen, SR | 2 |
| Geertinger, P | 1 |
| Larsen, HW | 1 |
| Vestermark, S | 1 |
| Parving, A | 1 |
| Fledelius, HC | 1 |
| Nicolosi, C | 1 |
| Girlanda, P | 1 |
| Vita, G | 1 |
| Messina, C | 1 |
| Bulle, F | 1 |
| Lespinasse, J | 1 |
| Pawlak, A | 1 |
| Vadot, E | 1 |
| Sastre, J | 1 |
| Noël, B | 3 |
| Guellaen, G | 1 |
| Ramesh, KH | 1 |
| Shah, HO | 1 |
| Sherman, J | 1 |
| Lin, JH | 1 |
| Verma, RS | 2 |
| Monaghan, KG | 1 |
| Van Dyke, DL | 1 |
| Wiktor, A | 1 |
| Feldman, GL | 1 |
| Dollfus, H | 1 |
| 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 |
| Mills, MD | 1 |
| Syed, N | 1 |
| Kunze, J | 1 |
| Tolksdorf, M | 1 |
| Wiedemann, HR | 1 |
| Bolande, RP | 1 |
| Borges, W | 1 |
| McBride, G | 1 |
| Walknowska, J | 1 |
| Peakman, D | 1 |
| Weleber, RG | 1 |
| Fulton, AB | 1 |
| Howard, RO | 1 |
| Hsia, YE | 1 |
| Packman, S | 1 |
| Bartsch, O | 1 |
| Aksu, F | 1 |
| Fenner, A | 1 |
| Schwinger, E | 1 |
| Pallotta, R | 1 |
| Walton, DS | 1 |
| Weichselbaum, RR | 1 |
| Cassady, JR | 1 |
| Little, JB | 1 |
| Leombruno, D | 1 |
| Trantravahi, R | 1 |
| Puliafito, CA | 1 |
| Lavedan, C | 1 |
| Barichard, F | 1 |
| Azoulay, M | 1 |
| Couillin, P | 1 |
| Molina Gomez, D | 1 |
| Nicolas, H | 1 |
| Quack, B | 2 |
| Rethoré, MO | 1 |
| Ward, J | 1 |
| Sierra, IA | 1 |
| D'Croz, E | 1 |
| Mochon, MC | 1 |
| Blanc, JF | 1 |
| Plauchu, H | 1 |
| Hotta, Y | 1 |
| Fujiki, K | 1 |
| Ishida, N | 1 |
| Kato, K | 1 |
| Nakajima, A | 1 |
| Takamatsu, H | 1 |
| Schinzel, A | 1 |
| Nakagome, Y | 1 |
| Nagahara, N | 1 |
| Schmickel, RD | 1 |
| Wilms, H | 1 |
| Back, E | 1 |
| Kirste, G | 1 |
| Kleczkowska, A | 1 |
| Igodt-Ameye, L | 1 |
| Van den Berghe, H | 2 |
| de Grouchy, J | 1 |
| Turleau, C | 1 |
| Chitayat, D | 1 |
| Hahm, SY | 1 |
| Iqbal, MA | 1 |
| Nitowsky, HM | 1 |
| Hoo, JJ | 1 |
| Robertson, A | 1 |
| Fowlow, SB | 1 |
| Bowen, P | 1 |
| Lin, CC | 1 |
| Levin, H | 1 |
| Ritch, R | 1 |
| Barathur, R | 1 |
| Dunn, MW | 1 |
| Teekhasaenee, C | 1 |
| Margolis, S | 1 |
| Pearce, WG | 1 |
| Babu, KA | 1 |
| Rosenfeld, W | 1 |
| Jhaveri, RC | 1 |
| Cory, CC | 1 |
| Jamison, DL | 1 |
| Lur'e, IV | 2 |
| Gushchina, GS | 1 |
| Rogers, GL | 1 |
| Polomeno, RC | 1 |
| De Andres Basauri, L | 1 |
| Martínez, C | 1 |
| Ladda, R | 1 |
| Atkins, L | 1 |
| Littlefield, J | 1 |
| Neurath, P | 1 |
| Marimuthu, KM | 1 |
| Casey, TA | 1 |
| Gibbs, D | 1 |
| Jerndal, T | 1 |
| Mollica, F | 1 |
| Pavone, L | 1 |
| Antener, I | 1 |
| Madroszkiewicz, M | 1 |
| Koraszewska-Matuszewka, B | 1 |
| Dziekanowska, D | 1 |
| Freedom, RM | 1 |
| Gerald, PS | 1 |
| Mottet, J | 1 |
| Nantois, Y | 1 |
| Tabbara, KF | 1 |
| Khouri, FP | 1 |
| Neuhäuser, G | 1 |
| Timmerman, GJ | 1 |
| van Olphen, AH | 1 |
| Bergsma, DR | 1 |
| Kaiser-Kupfer, M | 1 |
| Starodubtseva, EI | 1 |
| Shcherbina, AF | 1 |
| Balci, S | 1 |
| Halicioglu, C | 1 |
| Say, B | 1 |
| Taysi, K | 1 |
| Heimann, K | 1 |
| Jaeger, W | 1 |
| Dollmann, A | 1 |
| Nagy, M | 1 |
| Fazekas, A | 1 |
| Cordier, J | 1 |
| Reny, A | 1 |
| Kahn, N | 1 |
| Boatman, DL | 1 |
| Kölln, CP | 1 |
| Flocks, RH | 1 |
| Eggermont, E | 1 |
| Veresen, H | 1 |
| Darby, CW | 1 |
| Hughes, DT | 1 |
| Dallapiccola, B | 1 |
| Fraser, GR | 1 |
| Klein, D | 1 |
| Flickinger, RR | 1 |
| Spivey, BE | 1 |
| Hanssens, M | 1 |
| Arias, D | 1 |
| Passarge, E | 1 |
| Engle, MA | 1 |
| German, J | 1 |
| Cagianut, B | 1 |
| Theiler, K | 1 |
| Holland, MG | 1 |
| Cambie, E | 1 |
13 reviews available for 2-propanol and Abnormalities, Autosome
| Article | Year |
|---|---|
High-resolution cytogenetics.
Topics: Adolescent; Chromosome Aberrations; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, 13- | 1983 |
Normal and abnormal ocular development in man.
Topics: Chromosome Aberrations; Chromosome Disorders; Coloboma; Corneal Ulcer; Ectoderm; Eye; Eye Abnormalit | 1982 |
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 |
[Cat-eye syndrome. Clinical and cytogenetical differentialdiagnosis (author's transl)].
Topics: Abnormalities, Multiple; Alkaline Phosphatase; Anus, Imperforate; Autoradiography; Child, Preschool; | 1975 |
Neoplasia of early life and its relationships to teratogenesis.
Topics: Abnormalities, Drug-Induced; Carcinoma, Basal Cell; Chromosome Aberrations; Chromosome Disorders; Co | 1976 |
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 |
[Newly discovered structural chromosome aberrations in long familial syndromes, associations and sequences. Prader-Willi syndrome, Miller-Dieker syndrome, Giedion-Langer syndrome, Aniridia-Wilms' tumor association, DiGeorge sequence, Wiedemann-Beckwith sy
Topics: Abnormalities, Multiple; Brain; Child; Chromosome Aberrations; Chromosome Disorders; DiGeorge Syndro | 1988 |
Contiguous gene syndromes: a component of recognizable syndromes.
Topics: Beckwith-Wiedemann Syndrome; Child; Chromosome Aberrations; Chromosome Disorders; Chromosome Mapping | 1986 |
Microcytogenetics 1984.
Topics: Beckwith-Wiedemann Syndrome; Brain; Chromosome Aberrations; Cytogenetics; DiGeorge Syndrome; Exostos | 1986 |
Ring chromosome 6: report of a patient and literature review.
Topics: Chromosome Aberrations; Chromosomes, Human, Pair 6; Factor XII; Factor XIII; Fundus Oculi; Humans; I | 1987 |
[Eye anomalies in chromosomal aberrations].
Topics: Abnormalities, Multiple; Aneuploidy; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Huma | 1971 |
[Wilms' tumor and congenital malformations].
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 16-18; Di | 1973 |
[Ocular signs of trisomy 13. General review].
Topics: Anterior Chamber; Brain; Cataract; Child; Child, Preschool; Choroid; Chromosome Aberrations; Chromos | 1971 |
80 other studies available for 2-propanol and Abnormalities, Autosome
| Article | Year |
|---|---|
Chromosome 3 and 8q Aberrations in Uveal Melanoma Show Greater Impact on Survival in Patients with Light Iris versus Dark Iris Color.
Topics: Chromosome Aberrations; Chromosomes, Human, Pair 3; Eye Color; Humans; Iris; Melanoma; Prognosis; Uv | 2022 |
Congenital microcoria in a Saudi family.
Topics: Chromosome Aberrations; Chromosomes, Human, Pair 13; Female; Humans; Iris; Male; Middle Aged; Pedigr | 2019 |
[The role of myocilin in the pathogenesis of primary open-angle glaucoma].
Topics: Animals; Chromosome Aberrations; Ciliary Body; Cytoskeletal Proteins; Eye Proteins; Gene Expression | 2002 |
CHROMOSOME STUDIES IN FIVE CASES OF COLOBOMA OF THE IRIS.
Topics: Biopsy; Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes; Coloboma; Congenital Abnor | 1965 |
Chromosomal anomalies on 6p25 in iris hypoplasia and Axenfeld-Rieger syndrome patients defined on a purpose-built genomic microarray.
Topics: Abnormalities, Multiple; Anodontia; Anterior Eye Segment; Cell Line; Chromosome Aberrations; Chromos | 2004 |
[Morphology, family history, and age at diagnosis of 26 patients with Axenfeld-Rieger syndrome and glaucoma or ocular hypertension].
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosomes, Human, Pair 13; Diagnosis, Differentia | 2006 |
Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome.
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, 13-15; Cytoge | 2007 |
Three cases of triploidy in man.
Topics: Abortion, Spontaneous; Blood Group Antigens; Cell Nucleus; Chromosome Aberrations; Chromosome Disord | 1967 |
New syndrome associated with partial deletion of short arms of chromosome No. 4. Clinical manifestations of hypospadias, beaked nose, abnormal iris, hemangioma of forehead, seizures, and other anomalies.
Topics: Autoradiography; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 4-5; Cri-du-Chat | 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 |
Genes and cancer: the story of Wilms tumor.
Topics: Age Factors; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, | 1980 |
Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1.
Topics: Abnormalities, Multiple; Adolescent; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; | 1980 |
[Combination of nephroblastoma and aniridia in a child with congenital deletion of chromosome 11].
Topics: Child; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Humans; Iris; K | 1981 |
[Aniridia and Wilm's tumor].
Topics: Child, Preschool; Chromosome Aberrations; Chromosomes, Human, 6-12 and X; Female; Humans; Infant, Ne | 1981 |
[Prometaphase cytogenetic study of 13 cases of Wilms' tumor without aniridia].
Topics: Catalase; Child; Child, Preschool; Chromosome Aberrations; Humans; Infant; Iris; Karyotyping; Kidney | 1983 |
[Chromosome 11 and cancer].
Topics: Abnormalities, Multiple; Adrenal Gland Neoplasms; Chromosome Aberrations; Chromosome Deletion; Chrom | 1983 |
Aniridia: enzyme studies in an 11p--chromosomal deletion.
Topics: Catalase; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 6-1 | 1984 |
Ocular abnormalities in deletion of the long arm of chromosome 11.
Topics: Choroid; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 6-12 | 1981 |
Intraocular pathology of trisomy 18 (Edwards's syndrome): report of a case and review of the literature.
Topics: Anterior Chamber; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 16-18; Eye; Fema | 1983 |
Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2.
Topics: Acid Phosphatase; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Hu | 1980 |
Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality.
Topics: Adult; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 6-12 and | 1980 |
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 |
Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity.
Topics: Catalase; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chrom | 1982 |
Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance.
Topics: Adult; Chromosome Aberrations; Chromosome Disorders; Consanguinity; Diagnosis, Differential; Female; | 1982 |
A syndrome involving congenital cataracts of unusual morphology, microcornea, abnormal irides, nystagmus and congenital glaucoma, inherited as an autosomal dominant trait.
Topics: Adult; Aged; Cataract; Child; Chromosome Aberrations; Chromosome Disorders; Cornea; Diagnosis, Diffe | 1982 |
Variable expressivity in autosomal dominant aniridia by clinical, electrophysiologic, and angiographic criteria.
Topics: Adolescent; Adult; Aged; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Elec | 1980 |
Aniridia and interstitial deletion of the short arm of chromosome 11.
Topics: Cataract; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Dysgerminoma | 1980 |
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 |
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 |
Retinoblastoma in an eye with congenital uveal coloboma.
Topics: Blotting, Southern; Choroid; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, Pair | 1998 |
Aniridia, cataracts, and Wilms tumor.
Topics: Cataract; Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Female; Huma | 1978 |
Chromosome analysis techniques expand; new links to cancer.
Topics: Child; Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; Chromosomes, Human, 13-15; | 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 |
[Atypical cat eye syndrome. Fluorescence in situ hybridization of metaphase chromosomes].
Topics: Abnormalities, Multiple; Anus, Imperforate; Child, Preschool; Chromosome Aberrations; Chromosome Dis | 1992 |
Fibroblast radiosensitivity and intraocular fibrovascular proliferation following radiotherapy for bilateral retinoblastoma.
Topics: Cell Survival; Cells, Cultured; Chromosome Aberrations; Chromosome Disorders; Eye Neoplasms; Female; | 1986 |
Molecular definition of de novo and genetically transmitted WAGR-associated rearrangements of 11p13.
Topics: Adult; Blotting, Southern; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Ch | 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 |
[WAGR syndrome, Wilms' tumor, aniridia, gonadoblastoma, mental retardation: a review apropos of 2 cases].
Topics: Chromosome Aberrations; Chromosome Banding; Chromosome Disorders; Chromosomes, Human, Pair 11; Disor | 1987 |
High resolution G-banding analysis in aniridia.
Topics: Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Chromosome Mapping; Female; Humans; | 1987 |
High-resolution studies in patients with aniridia-Wilms tumor association.
Topics: Chromosome Aberrations; Chromosomes, Human, 6-12 and X; Female; Humans; Iris; Male; Wilms Tumor | 1985 |
[Terminal renal failure in aniridia-Wilms syndrome].
Topics: Adult; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 1 | 1986 |
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 |
Inverted duplication of 22pter----q11.21 in cat-eye syndrome.
Topics: Abnormalities, Multiple; Anus, Imperforate; Branchial Region; Chromosome Aberrations; Chromosome Inv | 1986 |
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6.
Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosomes, Human, Pair 6; Glaucoma; Humans; Hydro | 1986 |
Corneal involvement in autosomal dominant coloboma/microphthalmos.
Topics: Adult; Amblyopia; Chromosome Aberrations; Chromosome Disorders; Coloboma; Cornea; Female; Genes, Dom | 1986 |
Marker chromosome in cat eye syndrome.
Topics: Anus, Imperforate; Chromosome Aberrations; Coloboma; Female; Genetic Markers; Humans; Iris; Male; Sy | 1985 |
The cat eye syndrome.
Topics: Anus, Imperforate; Body Weight; Cephalometry; Chromosome Aberrations; Chromosome Disorders; Chromoso | 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 |
Autosomal-dominant inheritance of megalocornea associated with down's syndrome.
Topics: Chromosome Aberrations; Chromosome Disorders; Chromosomes, Human, 21-22 and Y; Congenital Abnormalit | 1974 |
Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome.
Topics: Abnormalities, Multiple; Cataract; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; C | 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 |
Complications in corneal grafting.
Topics: Animals; Antigens; Chromosome Aberrations; Chromosome Disorders; Cornea; Corneal Dystrophies, Heredi | 1972 |
Dominant goniodysgenesis with late congenital glaucoma. A re-examination of Berg's pedigree.
Topics: Adolescent; Adult; Age Factors; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorder | 1972 |
Short stature, mental retardation and ocular alterations in three siblings.
Topics: Adolescent; Cataract; Child; Chromosome Aberrations; Chromosome Disorders; Eye Diseases; Facial Expr | 1972 |
[Aniridia congenita].
Topics: Cataract; Child; Chromosome Aberrations; Congenital Abnormalities; Glaucoma; Humans; Iris; Karyotypi | 1973 |
Congenital cardiac disease and the "cat eye" syndrome.
Topics: Abnormalities, Multiple; Adolescent; Anal Canal; Azygos Vein; Child; Child, Preschool; Choroid; Chro | 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 |
Reiger's syndrome with chromosomal anomaly (report of a case).
Topics: Abnormalities, Multiple; Adult; Anodontia; Chromosome Aberrations; Chromosome Disorders; Chromosomes | 1973 |
[Cat-eye syndrome].
Topics: Abnormalities, Multiple; Adult; Anal Canal; Child, Preschool; Chromosome Aberrations; Chromosome Dis | 1973 |
[Autosomal dominant irideremia].
Topics: Child; Chromosome Aberrations; Chromosome Disorders; Eye Diseases; Female; Genes, Dominant; Humans; | 1974 |
A new form of albinism.
Topics: Adolescent; Adult; Albinism; Child; Chromosome Aberrations; Chromosome Disorders; Color Perception; | 1974 |
[Role of hereditary factors in pathogenesis of congenital aniridia].
Topics: Chromosome Aberrations; Congenital Abnormalities; Female; Humans; Iris; Male | 1974 |
Case report. The cat-eye syndrome with unusual skeletal malformations.
Topics: Abnormalities, Multiple; Anus, Imperforate; Arm; Chromosome Aberrations; Chromosome Disorders; Chrom | 1974 |
[Eye abnormalities of a child with an extra chromosome fragment].
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Coloboma; E | 1968 |
[Frequent familial occurrence of a multiplex malformation of the eye].
Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Child; Child, Preschool; Chromosome Aberrations; Chr | 1971 |
Congenital anomalies associated with horseshoe kidney.
Topics: Abnormalities, Multiple; Adolescent; Cardiovascular Abnormalities; Central Nervous System; Chromosom | 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 |
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 |
Lester's line in hereditary osteo-onychoysplasia.
Topics: Arm; Chromosome Aberrations; Chromosome Disorders; Female; Humans; Infant; Iris; Leg; Nail-Patella S | 1969 |
[Histopathological study of 2 cases of Leber's congenital tapeto-retinal degeneration].
Topics: Adult; Autopsy; Blindness; Choroid; Chromosome Aberrations; Chromosome Disorders; Ciliary Body; Corn | 1969 |
Human chromosomal deletion: two patients with the 4p- syndrome.
Topics: Abnormalities, Multiple; Autoradiography; Chromosome Aberrations; Chromosome Disorders; Chromosomes, | 1970 |
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 |
[The stigmatism of ocular albinism and congenital blindness of Leber. Clinical report].
Topics: Albinism; Blindness; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Genes; Genes, R | 1970 |