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Items: 1 to 20 of 106

1.

Extralabyrinthine manifestations of DFNA9.

McCall AA, Linthicum FH Jr, O'Malley JT, Adams JC, Merchant SN, Bassim MK, Gellibolian R, Fayad JN.

J Assoc Res Otolaryngol. 2011 Apr;12(2):141-9. doi: 10.1007/s10162-010-0245-0. Epub 2010 Nov 4.

2.

Cochlin in normal middle ear and abnormal middle ear deposits in DFNA9 and Coch (G88E/G88E) mice.

Robertson NG, O'Malley JT, Ong CA, Giersch AB, Shen J, Stankovic KM, Morton CC.

J Assoc Res Otolaryngol. 2014 Dec;15(6):961-74. doi: 10.1007/s10162-014-0481-9. Epub 2014 Jul 22.

3.

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 Jr, Sarracino DA, Verhagen WI, Morton CC.

Hum Mol Genet. 2006 Apr 1;15(7):1071-85. Epub 2006 Feb 15.

PMID:
16481359
4.

Histopathology of the Human Inner Ear in the p.L114P COCH Mutation (DFNA9).

Burgess BJ, O'Malley JT, Kamakura T, Kristiansen K, Robertson NG, Morton CC, Nadol JB Jr.

Audiol Neurootol. 2016;21(2):88-97. doi: 10.1159/000443822. Epub 2016 Mar 30.

5.

Inner ear localization of mRNA and protein products of COCH, mutated in the sensorineural deafness and vestibular disorder, DFNA9.

Robertson NG, Resendes BL, Lin JS, Lee C, Aster JC, Adams JC, Morton CC.

Hum Mol Genet. 2001 Oct 15;10(22):2493-500.

PMID:
11709536
6.

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. doi: 10.1016/j.heares.2010.11.002. Epub 2010 Nov 10.

7.

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. doi: 10.1002/humu.22855. Epub 2015 Aug 27.

PMID:
26256111
9.
10.

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 Jr, Miyamoto RT, Linthicum FH Jr, Lubianca Neto JF, Hudspeth AJ, Seidman CE, Morton CC, Seidman JG.

Nat Genet. 1998 Nov;20(3):299-303.

PMID:
9806553
11.

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. doi: 10.1002/lary.21159.

12.

Histopathology of the inner ear in DFNA9.

Merchant SN, Linthicum FH, Nadol JB Jr.

Adv Otorhinolaryngol. 2000;56:212-7. No abstract available.

PMID:
10868238
13.

[From gene to disease; a progressive cochlear-vestibular dysfunction with onset in middle-age (DFNA9)].

Cremers CW, Kemperman MH, Bom SJ, Huygen PL, Verhagen WI, Kremer JM.

Ned Tijdschr Geneeskd. 2005 Nov 19;149(47):2619-21. Review. Dutch.

PMID:
16355574
14.

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. doi: 10.1007/s00405-015-3885-1. Epub 2016 Jan 13.

PMID:
26758463
15.

DFNA9/COCH and its phenotype.

Kemperman MH, Bom SJ, Lemaire FX, Verhagen WI, Huygen PL, Cremers CW.

Adv Otorhinolaryngol. 2002;61:66-72. No abstract available.

PMID:
12408065
16.

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.

PMID:
9931344
17.

Histopathology of sudden hearing loss.

Yoon TH, Paparella MM, Schachern PA, Alleva M.

Laryngoscope. 1990 Jul;100(7):707-15.

PMID:
2362530
18.

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. Epub 2007 Mar 19.

PMID:
17368553
19.

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 8;469(2):270-4. doi: 10.1016/j.bbrc.2015.11.106. Epub 2015 Nov 26.

PMID:
26631968
20.

Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.

Grabski R, Szul T, Sasaki T, Timpl R, Mayne R, Hicks B, Sztul E.

Hum Genet. 2003 Oct;113(5):406-16. Epub 2003 Aug 20.

PMID:
12928864

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