Huygen PL - Search Results

1

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations.

Stinckens C, Kremer H, van Wijk E, Hoefsloot LH, Huygen PL, Standaert L, Fryns JP, Cremers CW. Stinckens C, et al. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2004 Jul;113(7):587-93. doi: 10.1177/000348940411300714. Ann Otol Rhinol Laryngol. 2004. PMID: 15274422

2

Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family.

De Leenheer EM, Huygen PL, Coucke PJ, Admiraal RJ, van Camp G, Cremers CW. De Leenheer EM, et al. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2002 Mar;111(3 Pt 1):267-74. doi: 10.1177/000348940211100312. Ann Otol Rhinol Laryngol. 2002. PMID: 11915881

3

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family.

de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H. de Brouwer AP, et al. Among authors: huygen pl. Hum Genet. 2003 Feb;112(2):156-63. doi: 10.1007/s00439-002-0833-0. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12522556

4

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. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2003 Mar;112(3):280-6. doi: 10.1177/000348940311200316. Ann Otol Rhinol Laryngol. 2003. PMID: 12656423

5

Usher syndrome type III can mimic other types of Usher syndrome.

Pennings RJ, Fields RR, Huygen PL, Deutman AF, Kimberling WJ, Cremers CW. Pennings RJ, et al. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2003 Jun;112(6):525-30. doi: 10.1177/000348940311200608. Ann Otol Rhinol Laryngol. 2003. PMID: 12834121

6

Audiological characteristics of some affected members of a Dutch DFNA13/COL11A2 family.

De Leenheer EM, Bosman AJ, Kunst HP, Huygen PL, Cremers CW. De Leenheer EM, et al. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2004 Nov;113(11):922-9. doi: 10.1177/000348940411301112. Ann Otol Rhinol Laryngol. 2004. PMID: 15562903 Free article.

7

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. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2007 May;116(5):349-57. doi: 10.1177/000348940711600506. Ann Otol Rhinol Laryngol. 2007. PMID: 17561763

8

Hearing impairment in genotyped Wolfram syndrome patients.

Plantinga RF, Pennings RJ, Huygen PL, Bruno R, Eller P, Barrett TG, Vialettes B, Paquis-Fluklinger V, Lombardo F, Cremers CW. Plantinga RF, et al. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2008 Jul;117(7):494-500. doi: 10.1177/000348940811700704. Ann Otol Rhinol Laryngol. 2008. PMID: 18700423

9

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

de Heer AM, Huygen PL, Collin RW, Kremer H, Cremers CW. de Heer AM, et al. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2009 Apr;118(4):313-20. doi: 10.1177/000348940911800413. Ann Otol Rhinol Laryngol. 2009. PMID: 19462854

10

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

de Heer AM, Huygen PL, Collin RW, Oostrik J, Kremer H, Cremers CW. de Heer AM, et al. Among authors: huygen pl. Ann Otol Rhinol Laryngol. 2009 May;118(5):382-90. doi: 10.1177/000348940911800511. Ann Otol Rhinol Laryngol. 2009. PMID: 19548389

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