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Partial USH2A deletions contribute to Usher syndrome in Denmark.
Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: rendtorff nd. Eur J Hum Genet. 2015 Dec;23(12):1646-51. doi: 10.1038/ejhg.2015.54. Epub 2015 Mar 25. Eur J Hum Genet. 2015. PMID: 25804404 Free PMC article.
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.
Nyegaard M, Rendtorff ND, Nielsen MS, Corydon TJ, Demontis D, Starnawska A, Hedemand A, Buniello A, Niola F, Overgaard MT, Leal SM, Ahmad W, Wikman FP, Petersen KB, Crüger DG, Oostrik J, Kremer H, Tommerup N, Frödin M, Steel KP, Tranebjærg L, Børglum AD. Nyegaard M, et al. Among authors: rendtorff nd. PLoS Genet. 2015 Jul 21;11(7):e1005386. doi: 10.1371/journal.pgen.1005386. eCollection 2015 Jul. PLoS Genet. 2015. PMID: 26197441 Free PMC article.
Phenotypic subregions within the split-hand/foot malformation 1 locus.
Rasmussen MB, Kreiborg S, Jensen P, Bak M, Mang Y, Lodahl M, Budtz-Jørgensen E, Tommerup N, Tranebjærg L, Rendtorff ND. Rasmussen MB, et al. Among authors: rendtorff nd. Hum Genet. 2016 Mar;135(3):345-57. doi: 10.1007/s00439-016-1635-0. Epub 2016 Feb 2. Hum Genet. 2016. PMID: 26839112
A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.
Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L. Rendtorff ND, et al. Eur J Hum Genet. 2006 Oct;14(10):1097-105. doi: 10.1038/sj.ejhg.5201670. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773128
Partial USH2A deletions contribute to Usher syndrome in Denmark.
Dad S, Rendtorff ND, Kann E, Albrechtsen A, Mehrjouy MM, Bak M, Tommerup N, Tranebjærg L, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: rendtorff nd. Eur J Hum Genet. 2015 Dec;23(12):1750. doi: 10.1038/ejhg.2015.131. Eur J Hum Genet. 2015. PMID: 26559128 Free PMC article. No abstract available.
50 results