Tranebjaerg L - Search Results

1

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: tranebjaerg l. Hum Mol Genet. 1996 Aug;5(8):1187-91. doi: 10.1093/hmg/5.8.1187. Hum Mol Genet. 1996. PMID: 8842739

2

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

3

Homozygosity mapping to the USH2A locus in two isolated populations.

Fagerheim T, Raeymaekers P, Merren J, Mani K, Jha GK, Baumbach L, Brox V, Breines E, Holdø BE, Holdø A, Tranebjaerg L. Fagerheim T, et al. Among authors: tranebjaerg l. J Med Genet. 1999 Feb;36(2):144-7. J Med Genet. 1999. PMID: 10051015 Free PMC article.

4

A new gene (DYX3) for dyslexia is located on chromosome 2.

Fagerheim T, Raeymaekers P, Tønnessen FE, Pedersen M, Tranebjaerg L, Lubs HA. Fagerheim T, et al. Among authors: tranebjaerg l. J Med Genet. 1999 Sep;36(9):664-9. J Med Genet. 1999. PMID: 10507721 Free PMC article.

5

DFNA7.

Tranebjaerg L, Elverland HH, Fagerheim T. Tranebjaerg L, et al. Adv Otorhinolaryngol. 2000;56:97-100. doi: 10.1159/000059074. Adv Otorhinolaryngol. 2000. PMID: 10868219 No abstract available.

6

Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13.

Tranebjaerg L, Teslovich TM, Jones M, Barmada MM, Fagerheim T, Dahl A, Escolar DM, Trent JM, Gillanders EM, Stephan DA. Tranebjaerg L, et al. Hum Genet. 2003 Aug;113(3):293-5. doi: 10.1007/s00439-003-0967-8. Epub 2003 Jun 17. Hum Genet. 2003. PMID: 12811539

7

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: tranebjaerg l. Hum Mutat. 2008 Mar;29(3):451. doi: 10.1002/humu.9524. Hum Mutat. 2008. PMID: 18273898

8

Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.

Tollersrud OK, Nilssen O, Tranebjaerg L, Borud O. Tollersrud OK, et al. Among authors: tranebjaerg l. 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. Among authors: tranebjaerg l. 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

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: tranebjaerg l. Eur J Hum Genet. 2000 Jul;8(7):500-6. doi: 10.1038/sj.ejhg.5200491. Eur J Hum Genet. 2000. PMID: 10909849

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