Nilssen Ø - Search Results

1

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Dad S, Rendtorff ND, Tranebjærg L, Grønskov K, Karstensen HG, Brox V, Nilssen Ø, Roux AF, Rosenberg T, Jensen H, Møller LB. Dad S, et al. Among authors: nilssen o. Mol Genet Genomic Med. 2016 Jun 28;4(5):527-539. doi: 10.1002/mgg3.228. eCollection 2016 Sep. Mol Genet Genomic Med. 2016. PMID: 27957503 Free PMC article.

2

Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.

Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O. Dreyer B, et al. Among authors: nilssen o. Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9524. Hum Mutat. 2008. PMID: 18273898

3

Clinical manifestations and novel pathogenic variants in SOX10 in eight Danish probands with Waardenburg syndrome.

Moldenæs MF, Rendtorff ND, Hindbæk LS, Tørring PM, Nilssen Ø, Tranebjærg L. Moldenæs MF, et al. Among authors: nilssen o. Eur J Med Genet. 2021 Sep;64(9):104265. doi: 10.1016/j.ejmg.2021.104265. Epub 2021 Jun 22. Eur J Med Genet. 2021. PMID: 34171448

4

A common ancestral origin of the frequent and widespread 2299delG USH2A mutation.

Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ, Nilssen O. Dreyer B, et al. Among authors: nilssen o. Am J Hum Genet. 2001 Jul;69(1):228-34. doi: 10.1086/321269. Epub 2001 Jun 8. Am J Hum Genet. 2001. PMID: 11402400 Free PMC article.

5

Identification of novel USH2A mutations: implications for the structure of USH2A protein.

Dreyer B, Tranebjaerg L, Rosenberg T, Weston MD, Kimberling WJ, Nilssen O. Dreyer B, et al. Among authors: nilssen o. Eur J Hum Genet. 2000 Jul;8(7):500-6. doi: 10.1038/sj.ejhg.5200491. Eur J Hum Genet. 2000. PMID: 10909849

6

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

Fagerheim T, Nilssen O, Raeymaekers P, Brox V, Moum T, Elverland HH, Teig E, Omland HH, Fostad GK, Tranebjaerg L. Fagerheim T, et al. Among authors: nilssen o. Hum Mol Genet. 1996 Aug;5(8):1187-91. doi: 10.1093/hmg/5.8.1187. Hum Mol Genet. 1996. PMID: 8842739

7

Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.

Sun C, Van Ghelue M, Tranebjærg L, Thyssen F, Nilssen Ø, Torbergsen T. Sun C, et al. Among authors: nilssen o. Clin Genet. 2011 Dec;80(6):574-80. doi: 10.1111/j.1399-0004.2010.01616.x. Epub 2011 Jan 19. Clin Genet. 2011. PMID: 21204798

8

Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.

Tollersrud OK, Nilssen O, Tranebjaerg L, Borud O. Tollersrud OK, et al. Among authors: nilssen o. J Med Genet. 1994 May;31(5):360-3. doi: 10.1136/jmg.31.5.360. J Med Genet. 1994. PMID: 8064811 Free PMC article.

9

A simple and rapid PCR based method for AGU(Fin) determination.

Nilssen O, Tollersrud OK, Borud O, Tranebjaerg L. Nilssen O, et al. Hum Mol Genet. 1993 Apr;2(4):484. doi: 10.1093/hmg/2.4.484. Hum Mol Genet. 1993. PMID: 8504311 No abstract available.

10

Human cytomegalovirus (HCMV) and hearing impairment: infection of fibroblast cells with HCMV induces chromosome breaks at 1q23.3, between loci DFNA7 and DFNA49 -- both involved in dominantly inherited, sensorineural, hearing impairment.

Nystad M, Fagerheim T, Brox V, Fortunato EA, Nilssen Ø. Nystad M, et al. Among authors: nilssen o. Mutat Res. 2008 Jan 1;637(1-2):56-65. doi: 10.1016/j.mrfmmm.2007.07.009. Epub 2007 Jul 25. Mutat Res. 2008. PMID: 17765268 Free PMC article.

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