126 related articles for article (PubMed ID: 17427029)
1. A novel DFNA5 mutation does not cause hearing loss in an Iranian family.
Van Laer L; Meyer NC; Malekpour M; Riazalhosseini Y; Moghannibashi M; Kahrizi K; Vandevelde A; Alasti F; Najmabadi H; Van Camp G; Smith RJH
J Hum Genet; 2007; 52(6):549-552. PubMed ID: 17427029
[TBL] [Abstract][Full Text] [Related]
2. A novel splice site mutation in DFNA5 causes late-onset progressive non-syndromic hearing loss in a Chinese family.
Chai Y; Chen D; Wang X; Wu H; Yang T
Int J Pediatr Otorhinolaryngol; 2014 Aug; 78(8):1265-8. PubMed ID: 24933359
[TBL] [Abstract][Full Text] [Related]
3. A novel DFNA5 mutation, IVS8+4 A>G, in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
Cheng J; Han DY; Dai P; Sun HJ; Tao R; Sun Q; Yan D; Qin W; Wang HY; Ouyang XM; Yang SZ; Cao JY; Feng GY; Du LL; Zhang YZ; Zhai SQ; Yang WY; Liu XZ; He L; Yuan HJ
Clin Genet; 2007 Nov; 72(5):471-7. PubMed ID: 17868390
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.
Jin Z; Zhu Q; Lu Y; Cheng J; Yuan H; Han D
Acta Otolaryngol; 2022 May; 142(5):448-453. PubMed ID: 35640035
[TBL] [Abstract][Full Text] [Related]
5. Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.
Park HJ; Cho HJ; Baek JI; Ben-Yosef T; Kwon TJ; Griffith AJ; Kim UK
J Hum Genet; 2010 Jan; 55(1):59-62. PubMed ID: 19911014
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Further evidence for "gain-of-function" mechanism of DFNA5 related hearing loss.
Wang H; Guan J; Guan L; Yang J; Wu K; Lin Q; Xiong W; Lan L; Zhao C; Xie L; Yu L; Dan Bing ; Zhao L; Wang D; Wang Q
Sci Rep; 2018 May; 8(1):8424. PubMed ID: 29849037
[TBL] [Abstract][Full Text] [Related]
8. Exonic mutations and exon skipping: Lessons learned from DFNA5.
Booth KT; Azaiez H; Kahrizi K; Wang D; Zhang Y; Frees K; Nishimura C; Najmabadi H; Smith RJ
Hum Mutat; 2018 Mar; 39(3):433-440. PubMed ID: 29266521
[TBL] [Abstract][Full Text] [Related]
9. DFNA5: hearing impairment exon instead of hearing impairment gene?
Van Laer L; Vrijens K; Thys S; Van Tendeloo VF; Smith RJ; Van Bockstaele DR; Timmermans JP; Van Camp G
J Med Genet; 2004 Jun; 41(6):401-6. PubMed ID: 15173223
[TBL] [Abstract][Full Text] [Related]
10.
Booth KT; Azaiez H; Smith RJH
Int J Mol Sci; 2020 May; 21(11):. PubMed ID: 32486382
[TBL] [Abstract][Full Text] [Related]
11. A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.
Nishio A; Noguchi Y; Sato T; Naruse TK; Kimura A; Takagi A; Kitamura K
Ann Hum Genet; 2014 Mar; 78(2):83-91. PubMed ID: 24506266
[TBL] [Abstract][Full Text] [Related]
12. A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q; Wang S; Liang P; Li W; Wang J; Fan B; Yang Y; An X; Chen J; Zha D
BMC Med Genomics; 2022 Jul; 15(1):163. PubMed ID: 35864542
[TBL] [Abstract][Full Text] [Related]
13. [Analysis of DFNA5 gene variant in a Chinese pedigree affected with late-onset non-syndromic hearing loss].
Wang N; Chen C; Tong M; Li Q; Liu L; Hu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):174-177. PubMed ID: 33565075
[TBL] [Abstract][Full Text] [Related]
14. A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family.
Yu C; Meng X; Zhang S; Zhao G; Hu L; Kong X
Genomics; 2003 Nov; 82(5):575-9. PubMed ID: 14559215
[TBL] [Abstract][Full Text] [Related]
15. A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.
Bischoff AM; Luijendijk MW; Huygen PL; van Duijnhoven G; De Leenheer EM; Oudesluijs GG; Van Laer L; Cremers FP; Cremers CW; Kremer H
Audiol Neurootol; 2004; 9(1):34-46. PubMed ID: 14676472
[TBL] [Abstract][Full Text] [Related]
16. Is DFNA5 a susceptibility gene for age-related hearing impairment?
Van Laer L; DeStefano AL; Myers RH; Flothmann K; Thys S; Fransen E; Gates GA; Van Camp G; Baldwin CT
Eur J Hum Genet; 2002 Dec; 10(12):883-6. PubMed ID: 12461698
[TBL] [Abstract][Full Text] [Related]
17. Histopathology of the Human Inner Ear in a Patient With Sensorineural Hearing Loss Caused by a Variant in DFNA5.
Nadol JB; Handzel O; Amr S
Otol Neurotol; 2015 Dec; 36(10):1616-21. PubMed ID: 26496673
[TBL] [Abstract][Full Text] [Related]
18. Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea.
Van Laer L; Van Camp G; van Zuijlen D; Green ED; Verstreken M; Schatteman I; Van de Heyning P; Balemans W; Coucke P; Greinwald JH; Smith RJ; Huizing E; Willems P
Eur J Hum Genet; 1997; 5(6):397-405. PubMed ID: 9450185
[TBL] [Abstract][Full Text] [Related]
19. Case Report: Novel Heterozygous
Chen X; Jia BL; Li MH; Lyu Y; Liu CX
Front Genet; 2020; 11():569284. PubMed ID: 33110423
[TBL] [Abstract][Full Text] [Related]
20. [Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss].
Jin Z; Cheng J; Han B; Li H; Lu Y; Li Z; Han D
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2011 May; 25(9):395-8. PubMed ID: 21805831
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
