201 related articles for article (PubMed ID: 29266521)
1. 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]
2. 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]
3. 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]
4.
Booth KT; Azaiez H; Smith RJH
Int J Mol Sci; 2020 May; 21(11):. PubMed ID: 32486382
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. DFNA5, a gene involved in hearing loss and cancer: a review.
de Beeck KO; Van Laer L; Van Camp G
Ann Otol Rhinol Laryngol; 2012 Mar; 121(3):197-207. PubMed ID: 22530481
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I.
Han Y; Zhao X; Wang S; Wang C; Tian D; Lang Y; Bottillo I; Wang X; Shao L
Endocrine; 2019 Jun; 64(3):708-718. PubMed ID: 30790175
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein.
Op de Beeck K; Van Camp G; Thys S; Cools N; Callebaut I; Vrijens K; Van Nassauw L; Van Tendeloo VF; Timmermans JP; Van Laer L
Eur J Hum Genet; 2011 Sep; 19(9):965-73. PubMed ID: 21522185
[TBL] [Abstract][Full Text] [Related]
18. Nonsyndromic hearing impairment is associated with a mutation in DFNA5.
Van Laer L; Huizing EH; Verstreken M; van Zuijlen D; Wauters JG; Bossuyt PJ; Van de Heyning P; McGuirt WT; Smith RJ; Willems PJ; Legan PK; Richardson GP; Van Camp G
Nat Genet; 1998 Oct; 20(2):194-7. PubMed ID: 9771715
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. [Study on syndromic deafness caused by novel pattern of compound heterozygous variants in the
Chen B; Zhang S; Tian YA; Liu HF; Liu DH; Xue X; Li RJ; Hu XX; Guan JY; Tang WX; Xu HE
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2020 Sep; 55(9):822-829. PubMed ID: 32911884
[No Abstract] [Full Text] [Related]
[Next] [New Search]
