Genetic heterogeneity of usher syndrome: Analysis of 151 families with usher type I

American Journal of Human Genetics

Volumn 67, Issue 6, 2000, Pages 1569-1574

  Astuto, Lisa M ^a   Weston, Michael D ^a   Carney, Carol A ^a   Hoover, Denise M ^a   Cremers, Cor W R J ^b   Wagenaar, Mariette ^b   Moller, Claes ^c   Smith, Richard J H ^d   Pieke Dahl, Sandra ^a   Greenberg, Jacquie ^d   Ramesar, Raj ^d   Jacobson, Samuel G ^e   Ayuso, Carmen ^f   Heckenlively, John R ^g   Tamayo, Marta ^h   Gorin, Michael B ⁱ   Reardon, Willie ^j   Kimberling, William J ^a  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF CAPE TOWN   (South Africa)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f Hospital UniversitarioFundación Jiménez Díaz   (Spain)

^g JULES STEIN EYE INSTITUTE   (United States)

^h PONTIFICIA UNIVERSIDAD JAVERIANA   (Colombia)

ⁱ UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

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Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 10; FAMILY STUDY; GENE LOCUS; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; HEARING LOSS; HUMAN; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; USHER SYNDROME;

EID: 0033646476     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/316889     Document Type: Article

References (27)

1. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
2. Usher syndrome: Definition and estimate of prevalence from two high-risk populations
3. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21
4. Linkage analysis in USH1 families from Spain
5. Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family
6. Estimation of prognosis and prevalence of retinitis pigmentosa and Usher syndrome in Norway
7. Retinitis pigmentosa combined with congenital deafness, with vestibulo-cerebellar ataxia and neural abnormality in a proportion of cases
8. A novel locus for Usher syndrome type II, USH2B, maps to chromosome 3 at p23-24.2
9. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q
10. Clinical and molecular genetics of Usher syndrome
11. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11
12. Localization of Usher syndrome type II to chromosome 1q
13. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
14. Myosin VIIA gene: Heterogeneity of the mutations responsible for Usher syndrome type IB
15. Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome
16. Mutations in the myosin VIIA gene cause non-syndromic recessive deafness
17. Autosomal dominant nonsyndromic deafness caused by mutation in the myosin VIIA gene
18. Dystrophia retinae pigmentosa - Dysacusis syndrome (DRD): A study of the Usher, or Hallgren, syndrome
19. Genetic heterogeneity of Usher syndrome type II: Localization to chromosome 5q
20. Assignment of an Usher syndrome type III (USH 3) gene to chromosome 3q
21. Clinical diagnosis of the Usher syndromes: Usher Syndrome Consortium
22. Localization of two genes for Usher syndrome type I to chromosome 11
23. Usher's syndrome: Deafness and progressive blindness: Clinical cases, prevention theory and literature survey
24. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
25. Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
26. Localization of the Usher syndrome type IF to chromosome 10
27. Myosin VIIa screening in 189 Usher syndrome type I patients