2-propanol has been researched along with Deficiency, Mental in 95 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 |
|---|---|---|
| "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) |
| "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) |
| "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 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) |
| "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) |
| "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) |
| "Gene dosage effects for catalase (CAT) were studied in two unrelated patients with an interstitial deletion involving 11p13 to determine precisely the sites of the genes for CAT and the Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad (WAGR) in the 11p13 band." | 1.27 | Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306. ( Hamawaki, M; Kasai, R; Kikkawa, K; Kimira, S; Kimoto, H; Matsuoka, K; Narahara, K; Ogata, M, 1984) |
| "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) |
| " 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) |
| "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) |
| "Surgery on the genitalia revealed male pseudohermaphroditism and bilateral gonadoblastoma." | 1.26 | Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13. ( de Grouchy, J; Diebold, N; Dufier, JL; Nihoul-Fékété, C; Phuc, LH; Rappaport, R; Schmelck, PH; Turleau, C, 1981) |
| " His red blood cells contained normal activities of glutathione reductase (gene on 8p) and lactate dehydrogeanse A (gene on 11p12), indicating a gene dosage consistent with the chromosomal findings." | 1.26 | Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. ( Atkins, L; Francke, U; Holmes, LB; Riccardi, VM, 1979) |
| "The Rieger syndrome is characterized by mesoectodermal dysplasia of the iris and cornea, dental defects, in some cases short stature, abnormal external ears, hypertelorism, arachnodactyly, polydactyly, scoliosis, kyphosis, imperforate anus, umbilical hernia, myopathy and in a few cases mental retardation." | 1.25 | Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case. ( Duenas, D; Hiatt, RL; Johnson, WW; Summitt, RL, 1971) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 77 (81.05) | 18.7374 |
| 1990's | 9 (9.47) | 18.2507 |
| 2000's | 5 (5.26) | 29.6817 |
| 2010's | 3 (3.16) | 24.3611 |
| 2020's | 1 (1.05) | 2.80 |
| Authors | Studies |
|---|---|
| Sakaguchi, Y | 1 |
| Yoshihashi, H | 1 |
| Uehara, T | 1 |
| Miyama, S | 1 |
| Kosaki, K | 1 |
| Takenouchi, T | 1 |
| Rall, N | 1 |
| Leon, A | 1 |
| Gomez, R | 1 |
| Daroca, J | 1 |
| Lacassie, Y | 1 |
| Hameed, Z | 1 |
| Taylor, S | 1 |
| Lindfield, D | 1 |
| Hall, HN | 1 |
| Williamson, KA | 1 |
| FitzPatrick, DR | 1 |
| CANQUE, P | 1 |
| GISCARD, P | 1 |
| Sobreira, N | 1 |
| Walsh, MF | 1 |
| Batista, D | 1 |
| Wang, T | 1 |
| DELAY, J | 1 |
| PICHOT, P | 1 |
| Moog, U | 1 |
| Engelen, JJ | 1 |
| van Schrojenstein Lantman-de Valk, HM | 1 |
| Driessen, SD | 1 |
| Fryns, JP | 4 |
| KLEBERGER, E | 1 |
| ZYGULSKA-MACHOWA, H | 1 |
| GILLESPIE, FD | 1 |
| Ganesh, A | 1 |
| Al-Kindi, A | 1 |
| Jain, R | 1 |
| Raeburn, S | 1 |
| Presley, GD | 2 |
| Sidbury, JB | 2 |
| Curtin, VT | 1 |
| Joyce, EE | 1 |
| Ballin, N | 1 |
| Turleau, C | 3 |
| de Grouchy, J | 3 |
| Tournade, MF | 1 |
| Gagnadoux, MF | 1 |
| Junien, C | 4 |
| Dufier, JL | 3 |
| Phuc, LH | 1 |
| Schmelck, PH | 1 |
| Rappaport, R | 1 |
| Nihoul-Fékété, C | 1 |
| Diebold, N | 1 |
| Petit, P | 1 |
| Godart, S | 1 |
| Pfeiffer, RA | 2 |
| Beirinckx, J | 1 |
| De Sutter, E | 1 |
| Derluyn, J | 1 |
| Francois, J | 3 |
| Van den Berghe, H | 2 |
| Narahara, K | 1 |
| Kikkawa, K | 1 |
| Kimira, S | 1 |
| Kimoto, H | 1 |
| Ogata, M | 1 |
| Kasai, R | 1 |
| Hamawaki, M | 1 |
| Matsuoka, K | 1 |
| Lentini, F | 2 |
| de Rouck, F | 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 |
| Kajii, T | 1 |
| Gödde-Salz, E | 1 |
| Behnke, H | 1 |
| Halal, F | 1 |
| Farsky, K | 1 |
| Phug, LH | 1 |
| Schmelck, P | 1 |
| Fekete, C | 1 |
| Haye, C | 1 |
| Kaiser-Kupfer, MI | 1 |
| White, BJ | 1 |
| Papadopoulos, N | 1 |
| Kotzot, D | 1 |
| Richter, K | 1 |
| Gierth-Fiebig, K | 1 |
| Verloes, A | 1 |
| Fledelius, HC | 1 |
| Temtamy, SA | 1 |
| Salam, MA | 1 |
| Aboul-Ezz, EH | 1 |
| Hussein, HA | 1 |
| Helmy, SA | 1 |
| Shalash, BA | 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 |
| al-Gazali, LI | 1 |
| Wieczorek, D | 1 |
| Krause, M | 1 |
| Majewski, F | 1 |
| 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 |
| Pilling, GP | 1 |
| Cotlier, E | 1 |
| Rose, M | 1 |
| Moel, SA | 1 |
| Andersen, SR | 2 |
| Geertinger, P | 2 |
| Larsen, HW | 2 |
| Mikkelsen, M | 2 |
| Vestermark, S | 2 |
| Warburg, M | 2 |
| Francke, U | 2 |
| Holmes, LB | 1 |
| Atkins, L | 2 |
| Riccardi, VM | 2 |
| Hittner, HM | 1 |
| Fulton, AB | 1 |
| Howard, RO | 2 |
| Albert, DM | 2 |
| Hsia, YE | 1 |
| Packman, S | 1 |
| Crawfurd, MD | 1 |
| Harcourt, RB | 1 |
| Shaw, PA | 1 |
| Parving, A | 1 |
| Fusco, G | 1 |
| Carlomagno, S | 1 |
| Romano, A | 1 |
| Rinaldi, E | 1 |
| Cedrola, G | 1 |
| Cianciaruso, L | 1 |
| Curto, A | 1 |
| Rosolia, S | 1 |
| Auricchio, G | 1 |
| Chazot, G | 1 |
| Guard, O | 1 |
| Setiey, A | 1 |
| Robert, JM | 1 |
| Schott, B | 1 |
| Jones, KL | 1 |
| Smith, DW | 1 |
| Neuhäuser, G | 1 |
| Kaveggia, EG | 1 |
| France, TD | 1 |
| Opitz, JM | 1 |
| Spranger, J | 1 |
| Kapur, S | 1 |
| Toriello, HV | 1 |
| Pallotta, R | 1 |
| Holmström, G | 1 |
| Almond, G | 1 |
| Temple, K | 1 |
| Taylor, D | 1 |
| Baraitser, M | 2 |
| Davenport, SL | 1 |
| Hefner, MA | 1 |
| Mitchell, JA | 1 |
| Couillin, P | 3 |
| Azoulay, M | 2 |
| Metezeau, P | 1 |
| Grisard, MC | 1 |
| Gessler, M | 3 |
| Thomas, GH | 1 |
| McGillivray, BC | 1 |
| Hayden, M | 1 |
| Jaschek, G | 1 |
| Bruns, GA | 3 |
| Harnois, C | 1 |
| Boisjoly, HM | 1 |
| Jotterand, V | 1 |
| Simola, KO | 2 |
| Lavedan, C | 1 |
| Barichard, F | 1 |
| Molina Gomez, D | 1 |
| Nicolas, H | 1 |
| Quack, B | 1 |
| Rethoré, MO | 1 |
| Noel, B | 1 |
| Mochon, MC | 1 |
| Blanc, JF | 1 |
| Plauchu, H | 1 |
| Philip, T | 1 |
| Seawright, A | 2 |
| Fletcher, JM | 2 |
| Fantes, JA | 1 |
| Morrison, H | 1 |
| Porteous, DJ | 2 |
| Li, SS | 1 |
| Hastie, ND | 1 |
| Van Heyningen, V | 1 |
| Bickmore, W | 1 |
| Christie, S | 1 |
| Boyd, PA | 1 |
| Cranston, G | 1 |
| Gosden, JR | 1 |
| Rout, D | 1 |
| Wittig, EO | 1 |
| Moreira, CA | 1 |
| Freire-Maia, N | 1 |
| Vianna-Morgante, AM | 1 |
| Zamzam, AM | 1 |
| Sheriff, SM | 1 |
| Phillips, CI | 1 |
| Winter, RM | 1 |
| Mayer, U | 1 |
| Kleczkowska, A | 2 |
| Igodt-Ameye, L | 1 |
| Chitayat, D | 1 |
| Hahm, SY | 1 |
| Iqbal, MA | 1 |
| Nitowsky, HM | 1 |
| Bramanti, P | 1 |
| Ricci, RM | 1 |
| Benedetto, M | 1 |
| Candela, L | 1 |
| Bagalà, S | 1 |
| Di Perri, R | 1 |
| Lyford, JH | 1 |
| Roy, FH | 1 |
| Sadeghi-Nejad, A | 1 |
| Senior, B | 1 |
| Evans, DI | 1 |
| Holzel, A | 1 |
| Ladda, R | 1 |
| Littlefield, J | 1 |
| Neurath, P | 1 |
| Marimuthu, KM | 1 |
| Neidhardt, M | 1 |
| Walker, FA | 1 |
| Dyson, C | 1 |
| Cross, HE | 1 |
| Mollica, F | 1 |
| Pavone, L | 1 |
| Antener, I | 1 |
| Gehler, J | 1 |
| Grosse, R | 1 |
| Morán, M | 1 |
| Sebestyén, J | 1 |
| Méhes, K | 1 |
| Tabbara, KF | 1 |
| Khouri, FP | 1 |
| Sörgel, HJ | 1 |
| Heidrich, R | 1 |
| Stinson, IN | 1 |
| Hanicka, M | 1 |
| Makowska, J | 1 |
| Sokolowski, J | 1 |
| Jarczyk, K | 1 |
| Klein, D | 1 |
| Ionasesco, V | 1 |
| Gauthier, G | 1 |
| Simona, B | 1 |
| Summitt, RL | 1 |
| Hiatt, RL | 1 |
| Duenas, D | 1 |
| Johnson, WW | 1 |
| Weiss, DI | 1 |
| Ziring, PR | 1 |
| Cooper, LZ | 1 |
| Anstock, C | 1 |
| Arias, D | 1 |
| Passarge, E | 1 |
| Engle, MA | 1 |
| German, J | 1 |
| Amini-Elihou, S | 1 |
| Sarsfield, JK | 1 |
| Koleszár, G | 1 |
| Castellazzo, R | 1 |
| Vittone, P | 1 |
| Seelenfreund, MH | 1 |
| Gartner, S | 1 |
| Vinger, PF | 1 |
7 reviews available for 2-propanol and Deficiency, Mental
| 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 |
The genetic architecture of aniridia and Gillespie syndrome.
Topics: Animals; Aniridia; Cerebellar Ataxia; Eye Proteins; Humans; Intellectual Disability; Iris; Mutation | 2019 |
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 |
Phenotypic variability of Cat-Eye syndrome.
Topics: Abnormalities, Multiple; Adult; Anal Canal; Chromosome Inversion; Chromosomes, Human, Pair 22; Colob | 2001 |
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 |
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 |
Ectopia lentis in systemic heritable disorders.
Topics: Abnormalities, Multiple; Body Constitution; Dwarfism; Ehlers-Danlos Syndrome; Elbow; Female; Fingers | 1974 |
88 other studies available for 2-propanol and Deficiency, Mental
| Article | Year |
|---|---|
New ocular finding in Baraitser-Winter syndrome (BWS).
Topics: Actins; Child, Preschool; Coloboma; Craniofacial Abnormalities; Female; Humans; Intellectual Disabil | 2018 |
Ocular Features of Cerebro-Costo-Mandibular Syndrome.
Topics: Atropine; Chronic Disease; Consanguinity; Female; Glaucoma, Angle-Closure; Glucocorticoids; Goniosco | 2018 |
Mental debilitation, congenital cataract and aniridia.
Topics: Cataract; Humans; Intellectual Disability; Iris | 1948 |
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 |
On a family illness characterized by the association of oligophrenia, aniridia and congenital cataract.
Topics: Aniridia; Cataract; Disease; Heredity; Humans; Intellectual Disability; Iris | 1946 |
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 |
[On hypoplasia of the iris stroma].
Topics: Humans; Intellectual Disability; Iris; Musculoskeletal Diseases | 1962 |
[A CASE OF RIEGER'S DISEASE (DYSGENESIS MESODERMALIS CORNEAE ET IRIDIS)].
Topics: Anodontia; Child; Congenital Abnormalities; Cornea; Corneal Diseases; Eye Diseases; Humans; Intellec | 1964 |
ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS.
Topics: Aniridia; Ataxia; Cerebellar Ataxia; Cerebellar Diseases; Congenital Abnormalities; Genetics, Medica | 1965 |
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 |
Homocystinuria and ocular defects.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cataract; Child; Child, Preschool; Cysts; Eye Diseases; | 1967 |
Ocular pathology in the oculo-cerebro-renal syndrome of Lowe.
Topics: Cataract; Cornea; Dwarfism; Eye; Glaucoma; Humans; Infant; Infant, Newborn; Intellectual Disability; | 1967 |
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.
Topics: Acatalasia; Adolescent; Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Femal | 1984 |
Aniridia, male pseudohermaphroditism, gonadoblastoma, mental retardation, and del 11p13.
Topics: Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, 6-12 and X; Cryptorchidism; Disorders o | 1981 |
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 |
Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22).
Topics: Abnormalities, Multiple; Bone Neoplasms; Child; Chondroma; Chromosome Deletion; Chromosomes, Human, | 1980 |
Aniridia-Wilms' tumor association and 11p interstitial deletion.
Topics: Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Humans; Intellectual Disabili | 1981 |
Regional mapping of catalase and Wilms tumor--aniridia, genitourinary abnormalities, and mental retardation triad loci to the chromosome segment 11p1305----p1306.
Topics: Abnormalities, Multiple; Adolescent; Catalase; Child, Preschool; Chromosome Banding; Chromosome Dele | 1984 |
Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).
Topics: Cerebellar Ataxia; Child, Preschool; Electroretinography; Female; Humans; Intellectual Disability; I | 1984 |
[Gillespie syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)].
Topics: Cerebellar Ataxia; Child; Child, Preschool; Electroretinography; Eye Diseases; Female; Humans; Intel | 1984 |
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 |
Aniridia, mental retardation and an unbalanced reciprocal translocation of chromosomes 8 and 11 with an interstitial deletion of 11p.
Topics: Adult; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Humans; Inte | 1981 |
Brief Clinical Report: coloboma hypospadias.
Topics: Child; Chromosomes, Human; Coloboma; Dermatoglyphics; Humans; Hypospadias; Intellectual Disability; | 1981 |
[Intercalary deletion of the short arm of chromosome 11: aniridia, glaucoma, staturoponderal and mental retardation, sexual ambiguity, gonadoblastoma and catalase deficiency].
Topics: Acatalasia; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Disorders of Sex Development; Dysge | 1981 |
Aniridia and mental retardation with deletion of the short arm of chromosome 11.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosome | 1981 |
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
Topics: Abnormalities, Multiple; Albinism, Oculocutaneous; Child; Consanguinity; Ear; Female; Genes, Recessi | 1994 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: Baraitser-Winter syndrome or Noonan syndrome?
Topics: Abnormalities, Multiple; Adolescent; Blepharoptosis; Coloboma; Diagnosis, Differential; Humans; Hype | 1993 |
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 |
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 |
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 |
Wilms' tumor in seven children with congenital aniridia.
Topics: Abnormalities, Multiple; Child, Preschool; Diagnosis, Differential; Humans; Infant; Infant, Newborn; | 1975 |
Aniridia, cataracts, and Wilms' tumor in monozygous twins.
Topics: Adolescent; Adult; Cataract; Child; Child, Preschool; Diabetes Mellitus; Female; Glaucoma; Humans; I | 1978 |
[P 11 deletion syndrome. Aniridia, urogenital malformation and mental retardation].
Topics: Chromosome Deletion; Chromosomes, Human, 6-12 and X; Diagnosis, Differential; Dysgerminoma; Genitali | 1978 |
Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13.
Topics: Abnormalities, Multiple; Child; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, 6-12 an | 1979 |
Aniridia caused by a heritable chromosome 11 deletion.
Topics: Abnormalities, Multiple; Cataract; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Geni | 1979 |
Ocular findings in triploidy.
Topics: Abnormalities, Multiple; Adolescent; Cataract; Chromosome Aberrations; Chromosome Disorders; Colobom | 1977 |
Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations.
Topics: Adolescent; Adult; Cerebellar Ataxia; Consanguinity; Female; Genes, Recessive; Heterozygote; Humans; | 1979 |
Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.
Topics: Cataract; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Dysgerminoma; Female; Humans; Infant; | 1977 |
Type I hyperprolinemia in a family suffering from aniridia and severe dystrophia of ocular tissues.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Humans; Intellectual Disability; Iris; Male; Proli | 1976 |
[Ramsay-Hunt syndrome and aniridia in 2 monozygotic twins].
Topics: 5-Hydroxytryptophan; Adolescent; Benzodiazepinones; Blood Group Antigens; Cerebellar Ataxia; Disease | 1975 |
The Williams elfin facies syndrome. A new perspective.
Topics: Adolescent; Adult; Aortic Valve Stenosis; Child; Child, Preschool; Eyelids; Face; Female; Growth Dis | 1975 |
Syndrome of mental retardation, seizures, hypotonic cerebral palsy and megalocorneae, recessively inherited.
Topics: Cerebral Palsy; Child, Preschool; Cornea; Dermatoglyphics; Electroencephalography; Genes, Recessive; | 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 |
Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies.
Topics: Abnormalities, Multiple; Child; Female; Genes, Recessive; Heart Defects, Congenital; Humans; Infant; | 1991 |
The iris in Williams syndrome.
Topics: Aortic Valve Stenosis; Child; Eye Color; Face; Humans; Incidence; Intellectual Disability; Iris; Syn | 1990 |
The spectrum of clinical features in CHARGE syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Central Nervous System Diseases; Child, Preschool; Choan | 1986 |
The gene for catalase is assigned between the antigen loci MIC4 and MIC11.
Topics: Antigens; Catalase; Child; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; Fem | 1989 |
A deletion map of the WAGR region on chromosome 11.
Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; DNA P | 1989 |
Sporadic aniridia and Wilms' tumor: visual function evaluation of three cases.
Topics: Chromosome Deletion; Chromosomes, Human, Pair 11; Contact Lenses; Electroretinography; Evoked Potent | 1989 |
Cloning of breakpoints of a chromosome translocation identifies the AN2 locus.
Topics: Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 4; Cl | 1989 |
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 |
[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 |
Analysis of WAGR deletions and related translocations with gene-specific DNA probes, using FACS-selected cell hybrids.
Topics: Animals; Cell Separation; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 11; DNA; | 1988 |
Molecular mapping and cloning of the breakpoints of a chromosome 11p14.1-p13 deletion associated with the AGR syndrome.
Topics: Cell Line; Chromosome Deletion; Chromosomes, Human, Pair 11; Cloning, Molecular; DNA; Electrophoresi | 1988 |
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13.
Topics: Animals; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 11; Cloning, Molecular; D | 1987 |
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.
Topics: Abnormalities, Multiple; Cerebellar Ataxia; Child; Humans; Intellectual Disability; Iris; Male; Synd | 1988 |
Aniridia, ectopia lentis, abnormal upper incisors and mental retardation--an autosomal recessive syndrome.
Topics: Adolescent; Consanguinity; Ectopia Lentis; Humans; Incisor; Intellectual Disability; Iris; Lens Subl | 1988 |
Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome.
Topics: Abnormalities, Multiple; Blepharoptosis; Body Height; Bone Diseases, Developmental; Child; Child, Pr | 1988 |
[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 |
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 |
The Marinesco-Sjögren syndrome: polygraphic study of nocturnal sleep.
Topics: Adolescent; Adult; Cataract; Cerebellar Ataxia; Child; Choroid; Coloboma; Electromyography; Humans; | 1985 |
Arhinencephaly unilateralis, uveal coloboma, and lens reduplication.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Choroid; Ciliary Body; Coloboma; Craniofacial Dyso | 1974 |
Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia (Rieger's syndrome).
Topics: Abnormalities, Multiple; Adolescent; Adult; Agenesis of Corpus Callosum; Anencephaly; Blood Glucose; | 1974 |
Wilm's-aniridia syndrome with transient hypo-gamma-globulinaemia of infancy.
Topics: Agammaglobulinemia; Cataract; Child, Preschool; Diet Therapy; Ear, External; Eczema; Hematuria; Huma | 1973 |
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 |
[Wilms' tumor and aniridia--a genetically determined syndrome?].
Topics: Abnormalities, Multiple; Cryptorchidism; Humans; Infant; Intellectual Disability; Iris; Kidney Neopl | 1972 |
Dominantly inherited aniridia associated with mental retardation and other eye abnormalities.
Topics: Adolescent; Female; Genes, Dominant; Glaucoma; Humans; Intellectual Disability; Iris; Lens, Crystall | 1974 |
Short stature, mental retardation and ocular alterations in three siblings.
Topics: Adolescent; Cataract; Child; Chromosome Aberrations; Chromosome Disorders; Eye Diseases; Facial Expr | 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 |
[Syndrome of the 1st branchial arch].
Topics: Abnormalities, Multiple; Adult; Coloboma; Dermoid Cyst; Eye Neoplasms; Humans; Intellectual Disabili | 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 |
Reiger's syndrome with chromosomal anomaly (report of a case).
Topics: Abnormalities, Multiple; Adult; Anodontia; Chromosome Aberrations; Chromosome Disorders; Chromosomes | 1973 |
[A rare dysplasia: the oculo-dento-digital syndrome].
Topics: Cerebral Ventriculography; Child; Dental Enamel Hypoplasia; Electroencephalography; Epilepsy; Eye Ab | 1965 |
Ocular defects associated with homocystinuria.
Topics: Eye Abnormalities; Eye Diseases; Female; Homocystinuria; Humans; Intellectual Disability; Iris; Lens | 1969 |
[Iridoschisis in a girl with karyotype 48 XXXX].
Topics: Child; Coloboma; Dermatoglyphics; Eye Abnormalities; Female; Humans; Intellectual Disability; Iris; | 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 |
Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case.
Topics: Abnormalities, Multiple; Cornea; Ectodermal Dysplasia; Eye Abnormalities; Humans; Intellectual Disab | 1971 |
Surgery of the rubella cataract.
Topics: Abnormalities, Multiple; Age Factors; Cataract; Cataract Extraction; Child, Preschool; Deafness; Fem | 1972 |
Ocular manifestations of subacute necrotizing encephalomyelopathy (Leigh's disease).
Topics: Autopsy; Blepharoptosis; Brain Stem; Child, Preschool; Encephalomalacia; Epithelium; Eye Diseases; E | 1972 |
[Oligrophrenia and aniridia: a clinical and genetic contribution].
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; Eye Diseases; Female; Humans; Intellec | 1971 |
Human chromosomal deletion: two patients with the 4p- syndrome.
Topics: Abnormalities, Multiple; Autoradiography; Chromosome Aberrations; Chromosome Disorders; Chromosomes, | 1970 |
[A Swiss family with Klein-Waardenburg's syndrome associated with hyperkeratosis of the palms and feet and with serious oligophrenia].
Topics: Abnormalities, Multiple; Adolescent; Blood Cells; Child; Deafness; Diseases in Twins; Eye Diseases; | 1970 |
The syndrome of congenital cerebellar ataxia, aniridia and mental retardation.
Topics: Cerebellar Ataxia; Child; Genes, Recessive; Genetics, Medical; Humans; Intellectual Disability; Iris | 1971 |
[Familial frequency of congenital aniridia].
Topics: Cataract; Child; Cleft Lip; Cleft Palate; Eye Diseases; Heart Defects, Congenital; Humans; Intellect | 1967 |
[On a case of Bietti's syndrome with aniridia, changes in the anterior chamber angle, patches of conjunctival xerosis and congenital cataract].
Topics: Abnormalities, Multiple; Adult; Anterior Chamber; Cataract; Conjunctiva; Female; Humans; Intellectua | 1967 |
The ocular pathology of Menkes' disease. (Kinky hair disease).
Topics: Body Weight; Child, Preschool; Epilepsy; Epithelium; Eye Diseases; Genes, Recessive; Hair; Humans; I | 1968 |