Huygen PLM - Search Results

1

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. Smits JJ, et al. Among authors: huygen plm. Otol Neurotol. 2021 Apr 1;42(4):e399-e407. doi: 10.1097/MAO.0000000000003004. Otol Neurotol. 2021. PMID: 33710989

2

Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis.

Oonk AM, Leijendeckers JM, Lammers EM, Weegerink NJ, Oostrik J, Beynon AJ, Huygen PL, Kunst HP, Kremer H, Snik AF, Pennings RJ. Oonk AM, et al. Hear Res. 2013 May;299:88-98. doi: 10.1016/j.heares.2012.12.015. Epub 2013 Jan 20. Hear Res. 2013. PMID: 23340379

3

Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference.

Oonk AM, Huygen PL, Kunst HP, Kremer H, Pennings RJ. Oonk AM, et al. Clin Otolaryngol. 2016 Oct;41(5):487-97. doi: 10.1111/coa.12567. Epub 2016 Feb 11. Clin Otolaryngol. 2016. PMID: 26474130 Review.

4

Pure tone hearing thresholds and speech recognition scores in Dutch patients carrying mutations in the USH2A gene.

Pennings RJ, Huygen PL, Weston MD, van Aarem A, Wagenaar M, Kimberling WJ, Cremers CW. Pennings RJ, et al. Otol Neurotol. 2003 Jan;24(1):58-63. doi: 10.1097/00129492-200301000-00013. Otol Neurotol. 2003. PMID: 12544030

5

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Pennings RJ, Topsakal V, Astuto L, de Brouwer AP, Wagenaar M, Huygen PL, Kimberling WJ, Deutman AF, Kremer H, Cremers CW. Pennings RJ, et al. Otol Neurotol. 2004 Sep;25(5):699-706. doi: 10.1097/00129492-200409000-00009. Otol Neurotol. 2004. PMID: 15353998

6

Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Topsakal V, Pennings RJ, te Brinke H, Hamel B, Huygen PL, Kremer H, Cremers CW. Topsakal V, et al. Otol Neurotol. 2005 Jan;26(1):52-8. doi: 10.1097/00129492-200501000-00009. Otol Neurotol. 2005. PMID: 15699719

7

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. Otol Neurotol. 2005 Sep;26(5):918-25. doi: 10.1097/01.mao.0000185048.84641.e3. Otol Neurotol. 2005. PMID: 16151338

8

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. Otol Neurotol. 2005 Sep;26(5):926-33. doi: 10.1097/01.mao.0000185062.12458.87. Otol Neurotol. 2005. PMID: 16151339

9

Cochleovestibular and ocular features in a Dutch DFNA11 family.

Bischoff AM, Pennings RJ, Huygen PL, Luijendijk MW, van Wijk E, Cruysberg JR, Kremer H, Cremers CW. Bischoff AM, et al. Otol Neurotol. 2006 Apr;27(3):323-31. doi: 10.1097/00129492-200604000-00006. Otol Neurotol. 2006. PMID: 16639269

10

Phenotype description of a novel DFNA9/COCH mutation, I109T.

Pauw RJ, Huygen PL, Collin RW, Cruysberg JR, Hoefsloot LH, Kremer H, Cremers CW. Pauw RJ, et al. Ann Otol Rhinol Laryngol. 2007 May;116(5):349-57. doi: 10.1177/000348940711600506. Ann Otol Rhinol Laryngol. 2007. PMID: 17561763

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