207 related articles for article (PubMed ID: 11060213)
21. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.
Reiners J; Nagel-Wolfrum K; Jürgens K; Märker T; Wolfrum U
Exp Eye Res; 2006 Jul; 83(1):97-119. PubMed ID: 16545802
[TBL] [Abstract][Full Text] [Related]
22. Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Doucette L; Merner ND; Cooke S; Ives E; Galutira D; Walsh V; Walsh T; MacLaren L; Cater T; Fernandez B; Green JS; Wilcox ER; Shotland LI; Li XC; Lee M; King MC; Young TL
Eur J Hum Genet; 2009 May; 17(5):554-64. PubMed ID: 19107147
[TBL] [Abstract][Full Text] [Related]
23. Localization of two genes for Usher syndrome type I to chromosome 11.
Smith RJ; Lee EC; Kimberling WJ; Daiger SP; Pelias MZ; Keats BJ; Jay M; Bird A; Reardon W; Guest M
Genomics; 1992 Dec; 14(4):995-1002. PubMed ID: 1478678
[TBL] [Abstract][Full Text] [Related]
24. Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.
Bharadwaj AK; Kasztejna JP; Huq S; Berson EL; Dryja TP
Exp Eye Res; 2000 Aug; 71(2):173-81. PubMed ID: 10930322
[TBL] [Abstract][Full Text] [Related]
25. Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.
Kumar A; Babu M; Kimberling WJ; Venkatesh CP
Mol Vis; 2004 Nov; 10():910-6. PubMed ID: 15592175
[TBL] [Abstract][Full Text] [Related]
26. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H; von Brederlow B; Ramírez A; Bryda EC; Kutsche K; Nothwang HG; Seeliger M; del C-Salcedó Cabrera M; Vila MC; Molina OP; Gal A; Kubisch C
Nat Genet; 2001 Jan; 27(1):108-12. PubMed ID: 11138009
[TBL] [Abstract][Full Text] [Related]
27. Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.
Zwaenepoel I; Verpy E; Blanchard S; Meins M; Apfelstedt-Sylla E; Gal A; Petit C
Hum Mutat; 2001; 17(1):34-41. PubMed ID: 11139240
[TBL] [Abstract][Full Text] [Related]
28. Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.
Kimberling WJ; Möller CG; Davenport S; Priluck IA; Beighton PH; Greenberg J; Reardon W; Weston MD; Kenyon JB; Grunkemeyer JA
Genomics; 1992 Dec; 14(4):988-94. PubMed ID: 1478677
[TBL] [Abstract][Full Text] [Related]
29. Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.
von Brederlow B; Bolz H; Janecke A; La O Cabrera A; Rudolph G; Lorenz B; Schwinger E; Gal A
Hum Mutat; 2002 Mar; 19(3):268-73. PubMed ID: 11857743
[TBL] [Abstract][Full Text] [Related]
30. Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q.
Pieke-Dahl S; Möller CG; Kelley PM; Astuto LM; Cremers CW; Gorin MB; Kimberling WJ
J Med Genet; 2000 Apr; 37(4):256-62. PubMed ID: 10745043
[TBL] [Abstract][Full Text] [Related]
31. Novel mutations in MYO7A and USH2A in Usher syndrome.
Maubaret C; Griffoin JM; Arnaud B; Hamel C
Ophthalmic Genet; 2005 Mar; 26(1):25-9. PubMed ID: 15823922
[TBL] [Abstract][Full Text] [Related]
32. Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness.
Ben Rebeh I; Morinière M; Ayadi L; Benzina Z; Charfedine I; Feki J; Ayadi H; Ghorbel A; Baklouti F; Masmoudi S
Mol Vis; 2010 Sep; 16():1898-906. PubMed ID: 21031134
[TBL] [Abstract][Full Text] [Related]
33. A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.
Chaïb H; Kaplan J; Gerber S; Vincent C; Ayadi H; Slim R; Munnich A; Weissenbach J; Petit C
Hum Mol Genet; 1997 Jan; 6(1):27-31. PubMed ID: 9002666
[TBL] [Abstract][Full Text] [Related]
34. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.
Ebermann I; Scholl HP; Charbel Issa P; Becirovic E; Lamprecht J; Jurklies B; Millán JM; Aller E; Mitter D; Bolz H
Hum Genet; 2007 Apr; 121(2):203-11. PubMed ID: 17171570
[TBL] [Abstract][Full Text] [Related]
35. Searching for evidence of DFNB2.
Astuto LM; Kelley PM; Askew JW; Weston MD; Smith RJ; Alswaid AF; Al-Rakaf M; Kimberling WJ
Am J Med Genet; 2002 May; 109(4):291-7. PubMed ID: 11992483
[TBL] [Abstract][Full Text] [Related]
36. Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers.
Mouglabey YB; Nimri S; Sayegh F; El Zir E; Slim R
Clin Genet; 1998 Aug; 54(2):155-8. PubMed ID: 9761396
[TBL] [Abstract][Full Text] [Related]
37. Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome.
Keogh IJ; Godinho RN; Wu TP; Diaz de Palacios AM; Palacios N; Bello de Alford M; De Almada MI; MarPalacios N; Vazquez A; Mattei R; Seidman C; Seidman J; Eavey RD
Int J Pediatr Otorhinolaryngol; 2004 Aug; 68(8):1063-8. PubMed ID: 15236894
[TBL] [Abstract][Full Text] [Related]
38. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.
Kaplan J; Gerber S; Bonneau D; Rozet JM; Delrieu O; Briard ML; Dollfus H; Ghazi I; Dufier JL; Frézal J
Genomics; 1992 Dec; 14(4):979-87. PubMed ID: 1478676
[TBL] [Abstract][Full Text] [Related]
39. Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.
Tamayo ML; Lopez G; Gelvez N; Medina D; Kimberling WJ; Rodríguez V; Tamayo GE; Bernal JE
Genet Couns; 2008; 19(1):15-27. PubMed ID: 18564497
[TBL] [Abstract][Full Text] [Related]
40. An update on the genetics of usher syndrome.
Millán JM; Aller E; Jaijo T; Blanco-Kelly F; Gimenez-Pardo A; Ayuso C
J Ophthalmol; 2011; 2011():417217. PubMed ID: 21234346
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]