210 related articles for article (PubMed ID: 24781754)
21. Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
Liaqat K; Hussain S; Bilal M; Nasir A; Acharya A; Ali RH; Nawaz S; Umair M; Schrauwen I; Ahmad W; Leal SM
J Hum Genet; 2020 Jan; 65(2):187-192. PubMed ID: 31656313
[TBL] [Abstract][Full Text] [Related]
22. A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.
Wang J; Shen J; Guo L; Cheng C; Chai R; Shu Y; Li H
Hear Res; 2019 Aug; 379():79-88. PubMed ID: 31103816
[TBL] [Abstract][Full Text] [Related]
23. Identification of a novel member of the chloride intracellular channel gene family (CLIC5) that associates with the actin cytoskeleton of placental microvilli.
Berryman M; Bretscher A
Mol Biol Cell; 2000 May; 11(5):1509-21. PubMed ID: 10793131
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future.
Acharya A; Schrauwen I; Leal SM
Hum Genet; 2022 Apr; 141(3-4):413-430. PubMed ID: 34291353
[TBL] [Abstract][Full Text] [Related]
26. Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.
de Heer AM; Collin RW; Huygen PL; Schraders M; Oostrik J; Rouwette M; Kunst HP; Kremer H; Cremers CW
Audiol Neurootol; 2011; 16(2):93-105. PubMed ID: 21252500
[TBL] [Abstract][Full Text] [Related]
27. Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family.
Lemaire FX; Feenstra L; Huygen PL; Fransen E; Devriendt K; Van Camp G; Vantrappen G; Cremers CW; Wackym PA; Koss JC
Otol Neurotol; 2003 Sep; 24(5):743-8. PubMed ID: 14501450
[TBL] [Abstract][Full Text] [Related]
28. MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
Kalay E; Uzumcu A; Krieger E; Caylan R; Uyguner O; Ulubil-Emiroglu M; Erdol H; Kayserili H; Hafiz G; Başerer N; Heister AJ; Hennies HC; Nürnberg P; Başaran S; Brunner HG; Cremers CW; Karaguzel A; Wollnik B; Kremer H
Am J Med Genet A; 2007 Oct; 143A(20):2382-9. PubMed ID: 17853461
[TBL] [Abstract][Full Text] [Related]
29. An ENU-induced mutation of Cdh23 causes congenital hearing loss, but no vestibular dysfunction, in mice.
Manji SS; Miller KA; Williams LH; Andreasen L; Siboe M; Rose E; Bahlo M; Kuiper M; Dahl HH
Am J Pathol; 2011 Aug; 179(2):903-14. PubMed ID: 21689626
[TBL] [Abstract][Full Text] [Related]
30. Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
Ahmed ZM; Yousaf R; Lee BC; Khan SN; Lee S; Lee K; Husnain T; Rehman AU; Bonneux S; Ansar M; Ahmad W; Leal SM; Gladyshev VN; Belyantseva IA; Van Camp G; Riazuddin S; Friedman TB; Riazuddin S
Am J Hum Genet; 2011 Jan; 88(1):19-29. PubMed ID: 21185009
[TBL] [Abstract][Full Text] [Related]
31. MiR-183 family regulates chloride intracellular channel 5 expression in inner ear hair cells.
Gu C; Li X; Tan Q; Wang Z; Chen L; Liu Y
Toxicol In Vitro; 2013 Feb; 27(1):486-91. PubMed ID: 22889583
[TBL] [Abstract][Full Text] [Related]
32. Discovery of MYH14 as an important and unique deafness gene causing prelingually severe autosomal dominant nonsyndromic hearing loss.
Kim BJ; Kim AR; Han JH; Lee C; Oh DY; Choi BY
J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28221712
[TBL] [Abstract][Full Text] [Related]
33. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.
Audo I; Bujakowska K; Mohand-Saïd S; Tronche S; Lancelot ME; Antonio A; Germain A; Lonjou C; Carpentier W; Sahel JA; Bhattacharya S; Zeitz C
Mol Vis; 2011; 17():1598-606. PubMed ID: 21738389
[TBL] [Abstract][Full Text] [Related]
34. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
de Kok YJ; Bom SJ; Brunt TM; Kemperman MH; van Beusekom E; van der Velde-Visser SD; Robertson NG; Morton CC; Huygen PL; Verhagen WI; Brunner HG; Cremers CW; Cremers FP
Hum Mol Genet; 1999 Feb; 8(2):361-6. PubMed ID: 9931344
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans.
Morlet T; Rabinowitz MR; Looney LR; Riegner T; Greenwood LA; Sherman EA; Achilly N; Zhu A; Yoo E; O'Reilly RC; Jinks RN; Puffenberger EG; Heaps A; Morton H; Strauss KA
Laryngoscope; 2014 Mar; 124(3):E95-103. PubMed ID: 23946138
[TBL] [Abstract][Full Text] [Related]
37. Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Chakchouk I; Zhang D; Zhang Z; Francioli LC; Santos-Cortez RLP; Schrauwen I; Leal SM
Eur J Hum Genet; 2019 Sep; 27(9):1456-1465. PubMed ID: 31053783
[TBL] [Abstract][Full Text] [Related]
38. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
Santos-Cortez RL; Lee K; Azeem Z; Antonellis PJ; Pollock LM; Khan S; Irfanullah ; Andrade-Elizondo PB; Chiu I; Adams MD; Basit S; Smith JD; ; Nickerson DA; McDermott BM; Ahmad W; Leal SM
Am J Hum Genet; 2013 Jul; 93(1):132-40. PubMed ID: 23768514
[TBL] [Abstract][Full Text] [Related]
39. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
Melchionda S; Ahituv N; Bisceglia L; Sobe T; Glaser F; Rabionet R; Arbones ML; Notarangelo A; Di Iorio E; Carella M; Zelante L; Estivill X; Avraham KB; Gasparini P
Am J Hum Genet; 2001 Sep; 69(3):635-40. PubMed ID: 11468689
[TBL] [Abstract][Full Text] [Related]
40. Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.
Bom SJ; Kemperman MH; De Kok YJ; Huygen PL; Verhagen WI; Cremers FP; Cremers CW
Laryngoscope; 1999 Sep; 109(9):1525-30. PubMed ID: 10499067
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]