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Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S, Ensgaard S, Lesperance MM, Tranebjaerg L. Rendtorff ND, et al. Among authors: tranebjaerg l. Am J Med Genet A. 2011 Jun;155A(6):1298-313. doi: 10.1002/ajmg.a.33970. Epub 2011 Apr 28. Am J Med Genet A. 2011. PMID: 21538838 Free PMC article.
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. Among authors: tranebjaerg l. 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
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: tranebjaerg l. 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 common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Chattaraj P, Munjal T, Honda K, Rendtorff ND, Ratay JS, Muskett JA, Risso DS, Roux I, Gertz EM, Schäffer AA, Friedman TB, Morell RJ, Tranebjærg L, Griffith AJ. Chattaraj P, et al. Among authors: tranebjaerg l. J Med Genet. 2017 Oct;54(10):665-673. doi: 10.1136/jmedgenet-2017-104721. Epub 2017 Aug 5. J Med Genet. 2017. PMID: 28780564 Free PMC article.
213 results