Bom SJ - 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: bom sj. Hum Mol Genet. 1999 Feb;8(2):361-6. doi: 10.1093/hmg/8.2.361. Hum Mol Genet. 1999. PMID: 9931344

2

[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. Cremers CW, et al. Among authors: bom sj. Ned Tijdschr Geneeskd. 2005 Nov 19;149(47):2619-21. Ned Tijdschr Geneeskd. 2005. PMID: 16355574 Review. Dutch.

3

Cross-sectional analysis of hearing threshold in relation to age in a large family with cochleovestibular impairment thoroughly genotyped for DFNA9/COCH.

Bom SJ, Kemperman MH, Huygen PL, Luijendijk MW, Cremers CW. Bom SJ, et al. Ann Otol Rhinol Laryngol. 2003 Mar;112(3):280-6. doi: 10.1177/000348940311200316. Ann Otol Rhinol Laryngol. 2003. PMID: 12656423

4

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. Bischoff AM, et al. Among authors: bom sj. Otol Neurotol. 2005 Sep;26(5):918-25. doi: 10.1097/01.mao.0000185048.84641.e3. Otol Neurotol. 2005. PMID: 16151338

5

DFNA9/COCH and its phenotype.

Kemperman MH, Bom SJ, Lemaire FX, Verhagen WI, Huygen PL, Cremers CW. Kemperman MH, et al. Among authors: bom sj. Adv Otorhinolaryngol. 2002;61:66-72. doi: 10.1159/000066806. Adv Otorhinolaryngol. 2002. PMID: 12408065 No abstract available.

6

Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9.

Bom SJ, Kemperman MH, De Kok YJ, Huygen PL, Verhagen WI, Cremers FP, Cremers CW. Bom SJ, et al. Laryngoscope. 1999 Sep;109(9):1525-30. doi: 10.1097/00005537-199909000-00031. Laryngoscope. 1999. PMID: 10499067

7

Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes.

Bom SJ, Kunst HP, Huygen PL, Cremers FP, Cremers CW. Bom SJ, et al. Br J Audiol. 1999 Oct;33(5):335-48. doi: 10.3109/03005369909090117. Br J Audiol. 1999. PMID: 10890148

8

Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9).

Verhagen WI, Bom SJ, Huygen PL, Fransen E, Van Camp G, Cremers CW. Verhagen WI, et al. Among authors: bom sj. Arch Neurol. 2000 Jul;57(7):1045-7. doi: 10.1001/archneur.57.7.1045. Arch Neurol. 2000. PMID: 10891988

9

Hereditary cochleovestibular dysfunction due to a COCH gene mutation (DFNA9): a follow-up study of a family.

Verhagen WI, Bom SJ, Fransen E, Van Camp G, Huygen PL, Theunissen EJ, Cremers CW. Verhagen WI, et al. Among authors: bom sj. Clin Otolaryngol Allied Sci. 2001 Dec;26(6):477-83. doi: 10.1046/j.1365-2273.2001.00505.x. Clin Otolaryngol Allied Sci. 2001. PMID: 11843927

10

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.

Cryns K, Pfister M, Pennings RJ, Bom SJ, Flothmann K, Caethoven G, Kremer H, Schatteman I, Köln KA, Tóth T, Kupka S, Blin N, Nürnberg P, Thiele H, van de Heyning PH, Reardon W, Stephens D, Cremers CW, Smith RJ, Van Camp G. Cryns K, et al. Among authors: bom sj. Hum Genet. 2002 May;110(5):389-94. doi: 10.1007/s00439-002-0719-1. Epub 2002 Apr 9. Hum Genet. 2002. PMID: 12073007

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