Huygen PLM - Search Results

1

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis.

Robijn SMM, Smits JJ, Sezer K, Huygen PLM, Beynon AJ, van Wijk E, Kremer H, de Vrieze E, Lanting CP, Pennings RJE. Robijn SMM, et al. Among authors: huygen plm. Biomolecules. 2022 Jan 27;12(2):220. doi: 10.3390/biom12020220. Biomolecules. 2022. PMID: 35204720 Free PMC article. Review.

2

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

3

Variable degrees of hearing impairment in a Dutch DFNX4 (DFN6) family.

Weegerink NJ, Huygen PL, Schraders M, Kremer H, Pennings RJ, Kunst HP. Weegerink NJ, et al. Hear Res. 2011 Dec;282(1-2):167-77. doi: 10.1016/j.heares.2011.08.010. Epub 2011 Aug 27. Hear Res. 2011. PMID: 21893181

4

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

5

Audiometric characteristics of a dutch family with a new mutation in GATA3 causing HDR syndrome.

van Beelen E, Leijendeckers JM, Admiraal RJ, Huygen PL, Hoefsloot LH, Pennings RJ, Snik AF, Kunst HP. van Beelen E, et al. Audiol Neurootol. 2014;19(2):106-14. doi: 10.1159/000356303. Epub 2014 Jan 10. Audiol Neurootol. 2014. PMID: 24434941

6

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.

7

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Pennings RJ, Bom SJ, Cryns K, Flothmann K, Huygen PL, Kremer H, Van Camp G, Cremers CW. Pennings RJ, et al. Arch Otolaryngol Head Neck Surg. 2003 Apr;129(4):421-6. doi: 10.1001/archotol.129.4.421. Arch Otolaryngol Head Neck Surg. 2003. PMID: 12707188

8

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.

Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW. Kemperman MH, et al. Arch Otolaryngol Head Neck Surg. 2004 Mar;130(3):281-8. doi: 10.1001/archotol.130.3.281. Arch Otolaryngol Head Neck Surg. 2004. PMID: 15023833

9

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

Pennings RJ, Huygen PL, Orten DJ, Wagenaar M, van Aarem A, Kremer H, Kimberling WJ, Cremers CW, Deutman AF. Pennings RJ, et al. Acta Ophthalmol Scand. 2004 Apr;82(2):131-9. doi: 10.1111/j.1600-0420.2004.00234.x. Acta Ophthalmol Scand. 2004. PMID: 15043528 Free article.

10

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H. Luijendijk MW, et al. Hum Genet. 2004 Jul;115(2):149-56. doi: 10.1007/s00439-004-1137-3. Epub 2004 Jun 2. Hum Genet. 2004. PMID: 15221449

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