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270 results

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Page 1
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: kubisch c. Hum Mutat. 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. Hum Mutat. 2006. PMID: 16752389
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
Li Y, Pohl E, Boulouiz R, Schraders M, Nürnberg G, Charif M, Admiraal RJ, von Ameln S, Baessmann I, Kandil M, Veltman JA, Nürnberg P, Kubisch C, Barakat A, Kremer H, Wollnik B. Li Y, et al. Among authors: kubisch c. Am J Hum Genet. 2010 Mar 12;86(3):479-84. doi: 10.1016/j.ajhg.2010.02.003. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170898 Free PMC article.
A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH. Wilch E, et al. Among authors: kubisch c. Clin Genet. 2010 Sep;78(3):267-74. doi: 10.1111/j.1399-0004.2010.01387.x. Epub 2010 Mar 1. Clin Genet. 2010. PMID: 20236118 Free PMC article.
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J. Friedrich K, et al. Among authors: kubisch c. Hum Genet. 2010 Jul;128(1):103-11. doi: 10.1007/s00439-010-0832-5. Epub 2010 May 5. Hum Genet. 2010. PMID: 20443122 Free PMC article.
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C. Borck G, et al. Among authors: kubisch c. Hum Genet. 2011 Jan;129(1):45-50. doi: 10.1007/s00439-010-0896-2. Epub 2010 Oct 22. Hum Genet. 2011. PMID: 20967465
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Among authors: kubisch c. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.
270 results