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Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, Bahat E, Ansar M, Arslan S, Wollnik B, Brunner HG, Cremers CW, Karaguzel A, Ahmad W, Cremers FP, Vriend G, Friedman TB, Riazuddin S, Leal SM, Kremer H. Collin RW, et al. Among authors: cremers cw, cremers fp. Am J Hum Genet. 2008 Jan;82(1):125-38. doi: 10.1016/j.ajhg.2007.09.008. Am J Hum Genet. 2008. PMID: 18179891 Free PMC article.
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: cremers cw, cremers fp. Hum Genet. 2003 Feb;112(2):156-63. doi: 10.1007/s00439-002-0833-0. Epub 2002 Oct 29. Hum Genet. 2003. PMID: 12522556
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. van Wijk E, et al. Among authors: cremers cw, cremers fp. Am J Hum Genet. 2004 Apr;74(4):738-44. doi: 10.1086/383096. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015129 Free PMC article.
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B. Kalay E, et al. Among authors: cremers cw, cremers fp. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Collin RW, Kalay E, Oostrik J, Caylan R, Wollnik B, Arslan S, den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CW, Brunner HG, Cremers FP, Karaguzel A, Kremer H. Collin RW, et al. Among authors: cremers cw, cremers fp. Hum Mutat. 2007 Jul;28(7):718-23. doi: 10.1002/humu.20510. Hum Mutat. 2007. PMID: 17373699
438 results