Robertson NG - Search Results

1

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. de Kok YJ, et al. Among authors: robertson ng. Hum Mol Genet. 1999 Feb;8(2):361-6. doi: 10.1093/hmg/8.2.361. Hum Mol Genet. 1999. PMID: 9931344

2

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. Kemperman MH, et al. Among authors: robertson ng. Otol Neurotol. 2005 Sep;26(5):926-33. doi: 10.1097/01.mao.0000185062.12458.87. Otol Neurotol. 2005. PMID: 16151339

3

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene.

Fransen E, Verstreken M, Verhagen WI, Wuyts FL, Huygen PL, D'Haese P, Robertson NG, Morton CC, McGuirt WT, Smith RJ, Declau F, Van de Heyning PH, Van Camp G. Fransen E, et al. Among authors: robertson ng. Hum Mol Genet. 1999 Aug;8(8):1425-9. doi: 10.1093/hmg/8.8.1425. Hum Mol Genet. 1999. PMID: 10400989

4

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. Robertson NG, et al. Hum Mol Genet. 2006 Apr 1;15(7):1071-85. doi: 10.1093/hmg/ddl022. Epub 2006 Feb 15. Hum Mol Genet. 2006. PMID: 16481359

5

A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.

Robertson NG, Jones SM, Sivakumaran TA, Giersch AB, Jurado SA, Call LM, Miller CE, Maison SF, Liberman MC, Morton CC. Robertson NG, et al. Hum Mol Genet. 2008 Nov 1;17(21):3426-34. doi: 10.1093/hmg/ddn236. Epub 2008 Aug 12. Hum Mol Genet. 2008. PMID: 18697796 Free PMC article.

6

A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

Cho HJ, Park HJ, Trexler M, Venselaar H, Lee KY, Robertson NG, Baek JI, Kang BS, Morton CC, Vriend G, Patthy L, Kim UK. Cho HJ, et al. Among authors: robertson ng. J Mol Med (Berl). 2012 Nov;90(11):1321-1331. doi: 10.1007/s00109-012-0911-2. Epub 2012 May 19. J Mol Med (Berl). 2012. PMID: 22610276 Free PMC article.

7

Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder.

Makishima T, Rodriguez CI, Robertson NG, Morton CC, Stewart CL, Griffith AJ. Makishima T, et al. Among authors: robertson ng. Hum Genet. 2005 Oct;118(1):29-34. doi: 10.1007/s00439-005-0001-4. Epub 2005 Oct 28. Hum Genet. 2005. PMID: 16078052

8

Human cochlear expressed sequence tags provide insight into cochlear gene expression and identify candidate genes for deafness.

Skvorak AB, Weng Z, Yee AJ, Robertson NG, Morton CC. Skvorak AB, et al. Among authors: robertson ng. Hum Mol Genet. 1999 Mar;8(3):439-52. doi: 10.1093/hmg/8.3.439. Hum Mol Genet. 1999. PMID: 9949203

9

Beginning of a molecular era in hearing and deafness.

Robertson NG, Morton CC. Robertson NG, et al. Clin Genet. 1999 Mar;55(3):149-59. doi: 10.1034/j.1399-0004.1999.550303.x. Clin Genet. 1999. PMID: 10334469 Review. No abstract available.

10

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.

Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjärg L, Morton CC, Ryan AF, Van Camp G, Smith RJ. Wayne S, et al. Among authors: robertson ng. Hum Mol Genet. 2001 Feb 1;10(3):195-200. doi: 10.1093/hmg/10.3.195. Hum Mol Genet. 2001. PMID: 11159937

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