158 related articles for article (PubMed ID: 21046548)
1. A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
Hildebrand MS; Gandolfo L; Shearer AE; Webster JA; Jensen M; Kimberling WJ; Stephan D; Huygen PL; Smith RJ; Bahlo M
Laryngoscope; 2010 Dec; 120(12):2489-93. PubMed ID: 21046548
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.
Pauw RJ; Huygen PL; Colditz GM; Cremers CW
Ann Otol Rhinol Laryngol; 2011 Jun; 120(6):414-21. PubMed ID: 21774451
[TBL] [Abstract][Full Text] [Related]
4. Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.
Gu X; Su W; Tang M; Guo L; Zhao L; Li H
Neural Plast; 2016; 2016():5310192. PubMed ID: 28116169
[TBL] [Abstract][Full Text] [Related]
5. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.
Kamarinos M; McGill J; Lynch M; Dahl H
Hum Mutat; 2001 Apr; 17(4):351. PubMed ID: 11295836
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.
Pauw RJ; Collin RW; Huygen PL; Hoefsloot LH; Kremer H; Cremers CW
Audiol Neurootol; 2007; 12(2):77-84. PubMed ID: 17264471
[TBL] [Abstract][Full Text] [Related]
8. A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype.
Smits JJ; van Beelen E; Weegerink NJD; Oostrik J; Huygen PLM; Beynon AJ; Lanting CP; Kunst HPM; Schraders M; Kremer H; de Vrieze E; Pennings RJE
Otol Neurotol; 2021 Apr; 42(4):e399-e407. PubMed ID: 33710989
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Genotype-Phenotype Correlations of Pathogenic
Robijn SMM; Smits JJ; Sezer K; Huygen PLM; Beynon AJ; van Wijk E; Kremer H; de Vrieze E; Lanting CP; Pennings RJE
Biomolecules; 2022 Jan; 12(2):. PubMed ID: 35204720
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.
Bischoff AM; Pauw RJ; Huygen PL; Aandekerk AL; Kremer H; Cremers CW; Cruysberg JR
Am J Ophthalmol; 2007 May; 143(5):847-852. PubMed ID: 17368553
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.
Street VA; Kallman JC; Robertson NG; Kuo SF; Morton CC; Phillips JO
Am J Med Genet A; 2005 Dec; 139A(2):86-95. PubMed ID: 16261627
[TBL] [Abstract][Full Text] [Related]
18. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.
Robertson NG; Lu L; Heller S; Merchant SN; Eavey RD; McKenna M; Nadol JB; Miyamoto RT; Linthicum FH; Lubianca Neto JF; Hudspeth AJ; Seidman CE; Morton CC; Seidman JG
Nat Genet; 1998 Nov; 20(3):299-303. PubMed ID: 9806553
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Phenotype description of a novel DFNA9/COCH mutation, I109T.
Pauw RJ; Huygen PL; Collin RW; Cruysberg JR; Hoefsloot LH; Kremer H; Cremers CW
Ann Otol Rhinol Laryngol; 2007 May; 116(5):349-57. PubMed ID: 17561763
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]