207 related articles for article (PubMed ID: 11060213)
41. Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.
Nájera C; Beneyto M; Blanca J; Aller E; Fontcuberta A; Millán JM; Ayuso C
Hum Mutat; 2002 Jul; 20(1):76-7. PubMed ID: 12112664
[TBL] [Abstract][Full Text] [Related]
42. Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
Jaijo T; Aller E; Oltra S; Beneyto M; Nájera C; Ayuso C; Baiget M; Carballo M; Antiñolo G; Valverde D; Moreno F; Vilela C; Perez-Garrigues H; Navea A; Millán JM
Hum Mutat; 2006 Mar; 27(3):290-1. PubMed ID: 16470552
[TBL] [Abstract][Full Text] [Related]
43. Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.
Bonné-Tamir B; Korostishevsky M; Kalinsky H; Seroussi E; Beker R; Weiss S; Godel V
Genomics; 1994 Mar; 20(1):36-42. PubMed ID: 8020954
[TBL] [Abstract][Full Text] [Related]
44. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.
Riazuddin S; Nazli S; Ahmed ZM; Yang Y; Zulfiqar F; Shaikh RS; Zafar AU; Khan SN; Sabar F; Javid FT; Wilcox ER; Tsilou E; Boger ET; Sellers JR; Belyantseva IA; Riazuddin S; Friedman TB
Hum Mutat; 2008 Apr; 29(4):502-11. PubMed ID: 18181211
[TBL] [Abstract][Full Text] [Related]
45. Usher syndrome type I is not linked to D1S81 (pTHH 33): evidence for genetic heterogeneity.
Kaplan J; Guasconi G; Bonneau D; Melki J; Briard ML; Munnich A; Dufier JL; Frézal J
Ann Genet; 1990; 33(2):105-8. PubMed ID: 1978628
[TBL] [Abstract][Full Text] [Related]
46. Genetic heterogeneity of Usher syndrome type II.
Pieke Dahl S; Kimberling WJ; Gorin MB; Weston MD; Furman JM; Pikus A; Möller C
J Med Genet; 1993 Oct; 30(10):843-8. PubMed ID: 7901420
[TBL] [Abstract][Full Text] [Related]
47. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].
Pennings RJ; Kremer H; Deutman AF; Kimberling WJ; Cremers CW
Ned Tijdschr Geneeskd; 2002 Dec; 146(49):2354-8. PubMed ID: 12510399
[TBL] [Abstract][Full Text] [Related]
48. A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
Ben-Yosef T; Ness SL; Madeo AC; Bar-Lev A; Wolfman JH; Ahmed ZM; Desnick RJ; Willner JP; Avraham KB; Ostrer H; Oddoux C; Griffith AJ; Friedman TB
N Engl J Med; 2003 Apr; 348(17):1664-70. PubMed ID: 12711741
[No Abstract] [Full Text] [Related]
49. Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.
Lévy G; Levi-Acobas F; Blanchard S; Gerber S; Larget-Piet D; Chenal V; Liu XZ; Newton V; Steel KP; Brown SD; Munnich A; Kaplan J; Petit C; Weil D
Hum Mol Genet; 1997 Jan; 6(1):111-6. PubMed ID: 9002678
[TBL] [Abstract][Full Text] [Related]
50. The usher syndromes.
Keats BJ; Corey DP
Am J Med Genet; 1999 Sep; 89(3):158-66. PubMed ID: 10704190
[TBL] [Abstract][Full Text] [Related]
51. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Kalay E; de Brouwer AP; Caylan R; Nabuurs SB; Wollnik B; Karaguzel A; Heister JG; Erdol H; Cremers FP; Cremers CW; Brunner HG; Kremer H
J Mol Med (Berl); 2005 Dec; 83(12):1025-32. PubMed ID: 16283141
[TBL] [Abstract][Full Text] [Related]
52. Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.
Ben-Salem S; Rehm HL; Willems PJ; Tamimi ZA; Ayadi H; Ali BR; Al-Gazali L
Mol Biol Rep; 2014 Jan; 41(1):193-200. PubMed ID: 24194196
[TBL] [Abstract][Full Text] [Related]
53. A progress report on the localization of Usher syndrome type II to chromosome 1q.
Weston MD; Kimberling WJ; Möller CG; Pieke Dahl S; Smith RJ; Martini A; Milani M
Ann N Y Acad Sci; 1991; 630():284-7. PubMed ID: 1952607
[No Abstract] [Full Text] [Related]
54. Retinitis pigmentosa: genetic mapping in X-linked and autosomal forms of the disease.
Humphries P; Farrar GJ; Kenna P; McWilliam P
Clin Genet; 1990 Jul; 38(1):1-13. PubMed ID: 2201466
[TBL] [Abstract][Full Text] [Related]
55. Gene mapping of Usher syndrome type IIa: localization of the gene to a 2.1-cM segment on chromosome 1q41.
Kimberling WJ; Weston MD; Möller C; van Aarem A; Cremers CW; Sumegi J; Ing PS; Connolly C; Martini A; Milani M
Am J Hum Genet; 1995 Jan; 56(1):216-23. PubMed ID: 7825581
[TBL] [Abstract][Full Text] [Related]
56. Usher syndrome: from genetics to pathogenesis.
Petit C
Annu Rev Genomics Hum Genet; 2001; 2():271-97. PubMed ID: 11701652
[TBL] [Abstract][Full Text] [Related]
57. The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.
Saouda M; Mansour A; Bou Moglabey Y; El Zir E; Mustapha M; Chaib H; Nehmé A; Mégarbané A; Loiselet J; Petit C; Slim R
Hum Genet; 1998 Aug; 103(2):193-8. PubMed ID: 9760205
[TBL] [Abstract][Full Text] [Related]
58. Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.
Sankila EM; Pakarinen L; Kääriäinen H; Aittomäki K; Karjalainen S; Sistonen P; de la Chapelle A
Hum Mol Genet; 1995 Jan; 4(1):93-8. PubMed ID: 7711740
[TBL] [Abstract][Full Text] [Related]
59. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
Weil D; Küssel P; Blanchard S; Lévy G; Levi-Acobas F; Drira M; Ayadi H; Petit C
Nat Genet; 1997 Jun; 16(2):191-3. PubMed ID: 9171833
[TBL] [Abstract][Full Text] [Related]
60. Tightly linked flanking microsatellite markers for the Usher syndrome type I locus on the short arm of chromosome 11.
Keats BJ; Nouri N; Pelias MZ; Deininger PL; Litt M
Am J Hum Genet; 1994 Apr; 54(4):681-6. PubMed ID: 8128966
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]