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Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.
Weegerink NJ, Schraders M, Leijendeckers J, Slieker K, Huygen PL, Hoefsloot L, Oostrik J, Pennings RJ, Simon A, Snik A, Kremer H, Kunst HP. Weegerink NJ, et al. Among authors: hoefsloot l. Hear Res. 2011 Dec;282(1-2):243-51. doi: 10.1016/j.heares.2011.07.006. Epub 2011 Jul 23. Hear Res. 2011. PMID: 21810457
USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.
Pennings RJ, Te Brinke H, Weston MD, Claassen A, Orten DJ, Weekamp H, Van Aarem A, Huygen PL, Deutman AF, Hoefsloot LH, Cremers FP, Cremers CW, Kimberling WJ, Kremer H. Pennings RJ, et al. Among authors: hoefsloot lh. Hum Mutat. 2004 Aug;24(2):185. doi: 10.1002/humu.9259. Hum Mutat. 2004. PMID: 15241801
Development of a genotyping microarray for Usher syndrome.
Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H. Cremers FP, et al. J Med Genet. 2007 Feb;44(2):153-60. doi: 10.1136/jmg.2006.044784. Epub 2006 Sep 8. J Med Genet. 2007. PMID: 16963483 Free PMC article.
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: hoefsloot lh. Ann Otol Rhinol Laryngol. 2007 May;116(5):349-57. doi: 10.1177/000348940711600506. Ann Otol Rhinol Laryngol. 2007. PMID: 17561763
Phenotypes of two Dutch DFNA3 families with mutations in GJB2.
Weegerink NJ, Pennings RJ, Huygen PL, Hoefsloot LH, Cremers CW, Kunst HP. Weegerink NJ, et al. Among authors: hoefsloot lh. Ann Otol Rhinol Laryngol. 2011 Mar;120(3):191-7. doi: 10.1177/000348941112000308. Ann Otol Rhinol Laryngol. 2011. PMID: 21510145
172 results