First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1

Investigative Ophthalmology and Visual Science

Volumn 43, Issue 8, 2002, Pages 2540-2545

  Vieira, Helena ^a   Gregory Evans, Kevin ^a   Lim, Natasha ^a   Brookes, John L ^a   Brueton, Louise A ^a   Gregory Evans, Cheryl Y ^a  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CHROMOSOME 20Q; CLINICAL ARTICLE; COLOBOMA; CONTROLLED STUDY; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENE LOCATION; GENE MUTATION; GENETIC MARKER; GENETIC RECOMBINATION; GENOTYPE; HEARING IMPAIRMENT; HUMAN; LINKAGE ANALYSIS; MALE; MOLECULAR GENETICS; OCULOOTODENTAL SYNDROME; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; TOOTH MALFORMATION;

ADULT; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; COLOBOMA; DNA MUTATIONAL ANALYSIS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; IRIS; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR BIOLOGY; PEDIGREE; RETINA; SYNDROME; TOOTH ABNORMALITIES;

EID: 0036319832     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Causes of blindness and partial sighted in England and Wales 1990-91
2. Geographical variation in anophthalmia and microphthalmia in England, 1988-94
3. Congenital eye malformations: Clinical-epidemiological analysis of 1, 124, 654 consecutive births in Spain
4. A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15
5. Autosomal recessive colobomatous microphthalmia
6. Phenotype in retinol deficiency due to a hereditary defect in retinol binding protein synthesis
7. A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis
8. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
9. The association of ocular defects with the otodental syndrome
10. Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints
11. Cytogenetic and clinical findings in a patient with a deletion of 16q23.1: First report of bilateral cataracts and a 16q deletion
12. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
13. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
14. Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family
15. Vax1, a novel homeobox-containing gene, directs development of the basal forebrain and visual system
16. Radiation hybrid mapping of SNAP, PCSK2, and THBD (human chromosome 20p)
17. Genetic mapping of a mouse ocular malformation locus, Tcm, to chromosome 4
18. Familial otodentodysplasia: A "new" syndrome
19. Otodental dysplasia: A previously undescribed syndrome
20. Otodental dysplasia: A "new" ectodermal dysplasia
21. Otodental syndrome: A case report
22. Otodental syndrome: A case report and genetic considerations
23. Otodental dysplasia
24. Otodental dysplasia: A five year study
25. Globodontia in the otodental syndrome
26. Otodental syndrome: Three familial case reports
27. A human homologue of the drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
28. Mutations in the transcriptional activator EYA4 cause late onset deafness at the DFNA10 locus