225 related articles for article (PubMed ID: 23717403)
21. Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).
Topsakal V; Pennings RJ; te Brinke H; Hamel B; Huygen PL; Kremer H; Cremers CW
Otol Neurotol; 2005 Jan; 26(1):52-8. PubMed ID: 15699719
[TBL] [Abstract][Full Text] [Related]
22. Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
Hildebrand MS; Tack D; McMordie SJ; DeLuca A; Hur IA; Nishimura C; Huygen P; Casavant TL; Smith RJ
Genet Med; 2008 Nov; 10(11):797-804. PubMed ID: 18941426
[TBL] [Abstract][Full Text] [Related]
23. A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations.
Walls WD; Moteki H; Thomas TR; Nishio SY; Yoshimura H; Iwasa Y; Frees KL; Nishimura CJ; Azaiez H; Booth KT; Marini RJ; Kolbe DL; Weaver AM; Schaefer AM; Wang K; Braun TA; Usami SI; Barr-Gillespie PG; Richardson GP; Smith RJ; Casavant TL
Hum Genet; 2020 Oct; 139(10):1315-1323. PubMed ID: 32382995
[TBL] [Abstract][Full Text] [Related]
24. Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.
de Heer AM; Schraders M; Oostrik J; Hoefsloot L; Huygen PL; Cremers CW
Ann Otol Rhinol Laryngol; 2011 Apr; 120(4):243-8. PubMed ID: 21585154
[TBL] [Abstract][Full Text] [Related]
25. Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Ramzan K; Al-Owain M; Al-Numair NS; Afzal S; Al-Ageel S; Al-Amer S; Al-Baik L; Al-Otaibi GF; Hashem A; Al-Mashharawi E; Basit S; Al-Mazroea AH; Softah A; Sogaty S; Imtiaz F
Am J Med Genet B Neuropsychiatr Genet; 2020 Apr; 183(3):172-180. PubMed ID: 31854501
[TBL] [Abstract][Full Text] [Related]
26. The Prevalence and Clinical Characteristics of
Yasukawa R; Moteki H; Nishio SY; Ishikawa K; Abe S; Honkura Y; Hyogo M; Mihashi R; Ikezono T; Shintani T; Ogasawara N; Shirai K; Yoshihashi H; Ishino T; Otsuki K; Ito T; Sugahara K; Usami SI
Genes (Basel); 2019 Sep; 10(10):. PubMed ID: 31554319
[No Abstract] [Full Text] [Related]
27. WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
Kobayashi M; Miyagawa M; Nishio SY; Moteki H; Fujikawa T; Ohyama K; Sakaguchi H; Miyanohara I; Sugaya A; Naito Y; Morita SY; Kanda Y; Takahashi M; Ishikawa K; Nagano Y; Tono T; Oshikawa C; Kihara C; Takahashi H; Noguchi Y; Usami SI
PLoS One; 2018; 13(3):e0193359. PubMed ID: 29529044
[TBL] [Abstract][Full Text] [Related]
28. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.
Talebizadeh Z; Kelley PM; Askew JW; Beisel KW; Smith SD
Hum Mutat; 1999; 14(6):493-501. PubMed ID: 10571947
[TBL] [Abstract][Full Text] [Related]
29. Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
Guan J; Wang H; Lan L; Wu Y; Chen G; Zhao C; Wang D; Wang Q
Mol Genet Genomic Med; 2020 Aug; 8(8):e1367. PubMed ID: 32567228
[TBL] [Abstract][Full Text] [Related]
30. In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.
Namba K; Mutai H; Kaneko H; Hashimoto S; Matsunaga T
BMC Res Notes; 2012 Mar; 5():145. PubMed ID: 22420747
[TBL] [Abstract][Full Text] [Related]
31. Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss.
Gao Y; Yechikov S; Vázquez AE; Chen D; Nie L
J Cell Mol Med; 2013 Jul; 17(7):889-900. PubMed ID: 23750663
[TBL] [Abstract][Full Text] [Related]
32. Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
Gao X; Huang SS; Yuan YY; Wang GJ; Xu JC; Ji YB; Han MY; Yu F; Kang DY; Lin X; Dai P
Am J Med Genet A; 2015 Oct; 167A(10):2357-65. PubMed ID: 26079994
[TBL] [Abstract][Full Text] [Related]
33. [KCNQ4 gene mutations affected a pedigree with autosomal dominant hereditary hearing loss].
Wang Q; Cao J; Li N; Yang Y; Wang Q; Yu L; Han D; Yang W
Zhonghua Er Bi Yan Hou Ke Za Zhi; 2002 Oct; 37(5):343-7. PubMed ID: 12772453
[TBL] [Abstract][Full Text] [Related]
34. Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity.
Angeli SI
Laryngoscope; 2008 Nov; 118(11):2014-23. PubMed ID: 18758381
[TBL] [Abstract][Full Text] [Related]
35. Identification of a Potential Founder Effect of a Novel
Lee SY; Han JH; Kim BJ; Oh SH; Lee S; Oh DY; Choi BY
Int J Mol Sci; 2019 Aug; 20(17):. PubMed ID: 31454969
[TBL] [Abstract][Full Text] [Related]
36. Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications.
Kim AR; Chang MY; Koo JW; Oh SH; Choi BY
Audiol Neurootol; 2015; 20(1):17-25. PubMed ID: 25413827
[TBL] [Abstract][Full Text] [Related]
37. Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations.
Topsakal V; Hilgert N; van Dinther J; Tranebjaerg L; Rendtorff ND; Zarowski A; Offeciers E; Van Camp G; van de Heyning P
Audiol Neurootol; 2010; 15(4):211-20. PubMed ID: 19893302
[TBL] [Abstract][Full Text] [Related]
38. A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.
Wasano K; Mutai H; Obuchi C; Masuda S; Matsunaga T
Biochem Biophys Res Commun; 2015 Aug; 463(4):582-6. PubMed ID: 26036578
[TBL] [Abstract][Full Text] [Related]
39. Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.
Niu Z; Feng Y; Hu Z; Li J; Sun J; Chen H; He C; Wang X; Jiang L; Liu Y; Cai X; Wang L; Cai Y; Liu X; Mei L
Int J Pediatr Otorhinolaryngol; 2017 Sep; 100():1-7. PubMed ID: 28802351
[TBL] [Abstract][Full Text] [Related]
40. Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.
Lee SY; Choi HB; Park M; Choi IS; An J; Kim A; Kim E; Kim N; Han JH; Kim MY; Lee SM; Oh DY; Kim BJ; Yi N; Kim NKD; Lee C; Park WY; Koh YI; Gee HY; Cho HS; Kang TM; Choi BY
Exp Mol Med; 2021 Jul; 53(7):1192-1204. PubMed ID: 34316018
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
