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Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
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.
Visual impairment in Finnish Usher syndrome type III.
Plantinga RF, Pennings RJ, Huygen PL, Sankila EM, Tuppurainen K, Kleemola L, Cremers CW, Deutman AF. Plantinga RF, et al. Among authors: pennings rj. Acta Ophthalmol Scand. 2006 Feb;84(1):36-41. doi: 10.1111/j.1600-0420.2005.00507.x. Acta Ophthalmol Scand. 2006. PMID: 16445437 Free article.
Audiometric characteristics of USH2a patients.
Leijendeckers JM, Pennings RJ, Snik AF, Bosman AJ, Cremers CW. Leijendeckers JM, et al. Among authors: pennings rj. Audiol Neurootol. 2009;14(4):223-31. doi: 10.1159/000189265. Epub 2009 Jan 8. Audiol Neurootol. 2009. PMID: 19129697
Phenotype of the first otosclerosis family linked to OTSC10.
Weegerink NJ, Schrauwen I, Huygen PL, Pennings RJ, Cremers CW, Van Camp G, Kunst HP. Weegerink NJ, et al. Among authors: pennings rj. Laryngoscope. 2011 Apr;121(4):838-45. doi: 10.1002/lary.21463. Laryngoscope. 2011. PMID: 21433022
Similar phenotypes caused by mutations in OTOG and OTOGL.
Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ. Oonk AM, et al. Among authors: pennings rj. Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008. Ear Hear. 2014. PMID: 24378291 Free PMC article.
118 results