147 related articles for article (PubMed ID: 29449721)
1. Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.
JanssensdeVarebeke SPF; Van Camp G; Peeters N; Elinck E; Widdershoven J; Cox T; Deben K; Ketelslagers K; Crins T; Wuyts W
Eur J Hum Genet; 2018 Apr; 26(4):587-591. PubMed ID: 29449721
[TBL] [Abstract][Full Text] [Related]
2. Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
Booth KT; Ghaffar A; Rashid M; Hovey LT; Hussain M; Frees K; Renkes EM; Nishimura CJ; Shahzad M; Smith RJ; Ahmed Z; Azaiez H; Riazuddin S
Hum Genet; 2020 Dec; 139(12):1565-1574. PubMed ID: 32562050
[TBL] [Abstract][Full Text] [Related]
3. Hearing and vestibular deficits in the Coch(-/-) null mouse model: comparison to the Coch(G88E/G88E) mouse and to DFNA9 hearing and balance disorder.
Jones SM; Robertson NG; Given S; Giersch AB; Liberman MC; Morton CC
Hear Res; 2011 Feb; 272(1-2):42-8. PubMed ID: 21073934
[TBL] [Abstract][Full Text] [Related]
4. A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 9.
Masuda M; Mutai H; Arimoto Y; Nakano A; Matsunaga T
Biochem Biophys Res Commun; 2016 Jan; 469(2):270-4. PubMed ID: 26631968
[TBL] [Abstract][Full Text] [Related]
5. Distinct vestibular phenotypes in DFNA9 families with COCH variants.
Kim BJ; Kim AR; Han KH; Rah YC; Hyun J; Ra BS; Koo JW; Choi BY
Eur Arch Otorhinolaryngol; 2016 Oct; 273(10):2993-3002. PubMed ID: 26758463
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease.
Usami S; Takahashi K; Yuge I; Ohtsuka A; Namba A; Abe S; Fransen E; Patthy L; Otting G; Van Camp G
Eur J Hum Genet; 2003 Oct; 11(10):744-8. PubMed ID: 14512963
[TBL] [Abstract][Full Text] [Related]
7. Detailed hearing and vestibular profiles in the patients with COCH mutations.
Tsukada K; Ichinose A; Miyagawa M; Mori K; Hattori M; Nishio SY; Naito Y; Kitajiri S; Usami S
Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():100S-10S. PubMed ID: 25780252
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene.
JanssensdeVarebeke S; Topsakal V; Van Camp G; Van Rompaey V
Eur Arch Otorhinolaryngol; 2019 May; 276(5):1251-1262. PubMed ID: 30806805
[TBL] [Abstract][Full Text] [Related]
10. Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation.
Kemperman MH; De Leenheer EM; Huygen PL; van Duijnhoven G; Morton CC; Robertson NG; Cremers FP; Kremer H; Cremers CW
Otol Neurotol; 2005 Sep; 26(5):926-33. PubMed ID: 16151339
[TBL] [Abstract][Full Text] [Related]
11. Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers.
Bischoff AM; Huygen PL; Kemperman MH; Pennings RJ; Bom SJ; Verhagen WI; Admiraal RJ; Kremer H; Cremers CW
Otol Neurotol; 2005 Sep; 26(5):918-25. PubMed ID: 16151338
[TBL] [Abstract][Full Text] [Related]
12. On the pathophysiology of DFNA9: Effect of pathogenic variants in the COCH gene on inner ear functioning in human and transgenic mice.
Verdoodt D; Van Camp G; Ponsaerts P; Van Rompaey V
Hear Res; 2021 Mar; 401():108162. PubMed ID: 33421658
[TBL] [Abstract][Full Text] [Related]
13. Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.
Robertson NG; Cremers CW; Huygen PL; Ikezono T; Krastins B; Kremer H; Kuo SF; Liberman MC; Merchant SN; Miller CE; Nadol JB; Sarracino DA; Verhagen WI; Morton CC
Hum Mol Genet; 2006 Apr; 15(7):1071-85. PubMed ID: 16481359
[TBL] [Abstract][Full Text] [Related]
14. Homozygote loss-of-function variants in the human COCH gene underlie hearing loss.
Danial-Farran N; Chervinsky E; Nadar-Ponniah PT; Cohen Barak E; Taiber S; Khayat M; Avraham KB; Shalev SA
Eur J Hum Genet; 2021 Feb; 29(2):338-342. PubMed ID: 32939038
[TBL] [Abstract][Full Text] [Related]
15. Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion, and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder.
Bae SH; Robertson NG; Cho HJ; Morton CC; Jung DJ; Baek JI; Choi SY; Lee J; Lee KY; Kim UK
Hum Mutat; 2014 Dec; 35(12):1506-1513. PubMed ID: 25230692
[TBL] [Abstract][Full Text] [Related]
16. Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.
Chen DY; Chai YC; Yang T; Wu H
Int J Pediatr Otorhinolaryngol; 2013 Oct; 77(10):1711-5. PubMed ID: 23993205
[TBL] [Abstract][Full Text] [Related]
17. Novel COCH p.V123E Mutation, Causative of DFNA9 Sensorineural Hearing Loss and Vestibular Disorder, Shows Impaired Cochlin Post-Translational Cleavage and Secretion.
Jung J; Kim HS; Lee MG; Yang EJ; Choi JY
Hum Mutat; 2015 Dec; 36(12):1168-75. PubMed ID: 26256111
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Audiological and vestibular evaluation of new coagulation factor C homology mutation carriers in a Chinese family].
Sun Q; Xie SJ; Feng L; Wang YF; Xu J; Qiu CY; Chen AT; Ji F; Kang DY; Zhang X; Liu X; Dai P; Yuan HJ; Han DY
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2007 Aug; 42(8):594-8. PubMed ID: 17944208
[TBL] [Abstract][Full Text] [Related]
20. Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.
Wang Q; Fei P; Gu H; Zhang Y; Ke X; Liu Y
PLoS One; 2017; 12(1):e0170011. PubMed ID: 28099493
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
