134 related articles for article (PubMed ID: 11493199)
41. Substitutions in the conserved C2C domain of otoferlin cause DFNB9, a form of nonsyndromic autosomal recessive deafness.
Mirghomizadeh F; Pfister M; Apaydin F; Petit C; Kupka S; Pusch CM; Zenner HP; Blin N
Neurobiol Dis; 2002 Jul; 10(2):157-64. PubMed ID: 12127154
[TBL] [Abstract][Full Text] [Related]
42. The cloning and developmental expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl syndrome (BBS4) region at chromosome 15q22-q23.
Gorman SW; Haider NB; Grieshammer U; Swiderski RE; Kim E; Welch JW; Searby C; Leng S; Carmi R; Sheffield VC; Duhl DM
Genomics; 1999 Jul; 59(2):150-60. PubMed ID: 10409426
[TBL] [Abstract][Full Text] [Related]
43. New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p.
Chen A; Wayne S; Bell A; Ramesh A; Srisailapathy CR; Scott DA; Sheffield VC; Van Hauwe P; Zbar RI; Ashley J; Lovett M; Van Camp G; Smith RJ
Am J Med Genet; 1997 Sep; 71(4):467-71. PubMed ID: 9286457
[TBL] [Abstract][Full Text] [Related]
44. A novel type of myosin encoded by the mouse deafness gene shaker-2.
Wakabayashi Y; Takahashi Y; Kikkawa Y; Okano H; Mishima Y; Ushiki T; Yonekawa H; Kominami R
Biochem Biophys Res Commun; 1998 Jul; 248(3):655-9. PubMed ID: 9703981
[TBL] [Abstract][Full Text] [Related]
45. Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness.
Ouyang XM; Xia XJ; Verpy E; Du LL; Pandya A; Petit C; Balkany T; Nance WE; Liu XZ
Hum Genet; 2002 Jul; 111(1):26-30. PubMed ID: 12136232
[TBL] [Abstract][Full Text] [Related]
46. Identification of novel variants in the TMIE gene of patients with nonsyndromic hearing loss.
Yang JJ; Su MC; Chien KH; Hsin CH; Li SY
Int J Pediatr Otorhinolaryngol; 2010 May; 74(5):489-93. PubMed ID: 20206386
[TBL] [Abstract][Full Text] [Related]
47. A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Eisenberger T; Di Donato N; Decker C; Delle Vedove A; Neuhaus C; Nürnberg G; Toliat M; Nürnberg P; Mürbe D; Bolz HJ
Genet Med; 2018 Jun; 20(6):614-621. PubMed ID: 29309402
[TBL] [Abstract][Full Text] [Related]
48. Role of selected mutations in exon 28 and 39 of Myosin15 gene in autosomal recessive nonsyndromic sensorineural deafness among affected South Indian families.
Joseph AY; Rasool TJ
Am J Med Genet A; 2003 Jul; 120A(1):136-8. PubMed ID: 12794706
[No Abstract] [Full Text] [Related]
49. Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.
Rehman AU; Bird JE; Faridi R; Shahzad M; Shah S; Lee K; Khan SN; Imtiaz A; Ahmed ZM; Riazuddin S; Santos-Cortez RL; Ahmad W; Leal SM; Riazuddin S; Friedman TB
Hum Mutat; 2016 Oct; 37(10):991-1003. PubMed ID: 27375115
[TBL] [Abstract][Full Text] [Related]
50. Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.
Cengiz FB; Duman D; Sirmaci A; Tokgöz-Yilmaz S; Erbek S; Oztürkmen-Akay H; Incesulu A; Edwards YJ; Ozdag H; Liu XZ; Tekin M
Genet Test Mol Biomarkers; 2010 Aug; 14(4):543-50. PubMed ID: 20642360
[TBL] [Abstract][Full Text] [Related]
51. Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.
Liburd N; Ghosh M; Riazuddin S; Naz S; Khan S; Ahmed Z; Riazuddin S; Liang Y; Menon PS; Smith T; Smith AC; Chen KS; Lupski JR; Wilcox ER; Potocki L; Friedman TB
Hum Genet; 2001 Nov; 109(5):535-41. PubMed ID: 11735029
[TBL] [Abstract][Full Text] [Related]
52. IVS8+1 DelG, a Novel Splice Site Mutation Causing DFNA5 Deafness in a Chinese Family.
Li-Yang MN; Shen XF; Wei QJ; Yao J; Lu YJ; Cao X; Xing GQ
Chin Med J (Engl); 2015 Sep; 128(18):2510-5. PubMed ID: 26365971
[TBL] [Abstract][Full Text] [Related]
53. Mutations in Cdh23 cause nonsyndromic hearing loss in waltzer mice.
Wilson SM; Householder DB; Coppola V; Tessarollo L; Fritzsch B; Lee EC; Goss D; Carlson GA; Copeland NG; Jenkins NA
Genomics; 2001 Jun; 74(2):228-33. PubMed ID: 11386759
[TBL] [Abstract][Full Text] [Related]
54. SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.
Anwar S; Riazuddin S; Ahmed ZM; Tasneem S; Ateeq-ul-Jaleel ; Khan SY; Griffith AJ; Friedman TB; Riazuddin S
J Hum Genet; 2009 May; 54(5):266-70. PubMed ID: 19287372
[TBL] [Abstract][Full Text] [Related]
55. Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.
Masmoudi S; Tlili A; Majava M; Ghorbel AM; Chardenoux S; Lemainque A; Zina ZB; Moala J; Männikkö M; Weil D; Lathrop M; Ala-Kokko L; Drira M; Petit C; Ayadi H
Eur J Hum Genet; 2003 Feb; 11(2):185-8. PubMed ID: 12634867
[TBL] [Abstract][Full Text] [Related]
56. From flies' eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.
Walsh T; Walsh V; Vreugde S; Hertzano R; Shahin H; Haika S; Lee MK; Kanaan M; King MC; Avraham KB
Proc Natl Acad Sci U S A; 2002 May; 99(11):7518-23. PubMed ID: 12032315
[TBL] [Abstract][Full Text] [Related]
57. A novel locus for autosomal dominant, non-syndromic hearing impairment (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus.
Bönsch D; Scheer P; Neumann C; Lang-Roth R; Seifert E; Storch P; Weiller C; Lamprecht-Dinnesen A; Deufel T
Eur J Hum Genet; 2001 Mar; 9(3):165-70. PubMed ID: 11313754
[TBL] [Abstract][Full Text] [Related]
58. Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.
Verhoeven K; Fagerheim T; Prasad S; Wayne S; De Clau F; Balemans W; Verstreken M; Schatteman I; Solem B; Van de Heyning P; Tranebjärg L; Smith RJ; Van Camp G
Hum Genet; 2000 Jul; 107(1):7-11. PubMed ID: 10982027
[TBL] [Abstract][Full Text] [Related]
59. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
Kohl S; Baumann B; Broghammer M; Jägle H; Sieving P; Kellner U; Spegal R; Anastasi M; Zrenner E; Sharpe LT; Wissinger B
Hum Mol Genet; 2000 Sep; 9(14):2107-16. PubMed ID: 10958649
[TBL] [Abstract][Full Text] [Related]
60. Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
Alagramam KN; Yuan H; Kuehn MH; Murcia CL; Wayne S; Srisailpathy CR; Lowry RB; Knaus R; Van Laer L; Bernier FP; Schwartz S; Lee C; Morton CC; Mullins RF; Ramesh A; Van Camp G; Hageman GS; Woychik RP; Smith RJ
Hum Mol Genet; 2001 Aug; 10(16):1709-18. PubMed ID: 11487575
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]