Fagerheim T - Search Results

1

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: fagerheim t. 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.

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: fagerheim t. 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

SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.

Rendtorff ND, Schrijver I, Lodahl M, Rodriguez-Paris J, Johnsen T, Hansén EC, Nickelsen LA, Tümer Z, Fagerheim T, Wetke R, Tranebjaerg L. Rendtorff ND, et al. Among authors: fagerheim t. Clin Genet. 2013 Oct;84(4):388-91. doi: 10.1111/cge.12074. Epub 2013 Jan 22. Clin Genet. 2013. PMID: 23336812 No abstract available.

4

Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.

Van Ghelue M, Eriksen HL, Ponjavic V, Fagerheim T, Andréasson S, Forsman-Semb K, Sandgren O, Holmgren G, Tranebjaerg L. Van Ghelue M, et al. Among authors: fagerheim t. Ophthalmic Genet. 2000 Dec;21(4):197-209. Ophthalmic Genet. 2000. PMID: 11135490

5

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. Among authors: fagerheim t. Hum Genet. 2003 Aug;113(3):293-5. doi: 10.1007/s00439-003-0967-8. Epub 2003 Jun 17. Hum Genet. 2003. PMID: 12811539

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

7

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. J Med Genet. 1999 Sep;36(9):664-9. J Med Genet. 1999. PMID: 10507721 Free PMC article.

8

DFNA7.

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

9

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. J Med Genet. 1999 Feb;36(2):144-7. J Med Genet. 1999. PMID: 10051015 Free PMC article.

10

Causes of hearing impairment in the Norwegian paediatric cochlear implant program.

Siem G, Fagerheim T, Jonsrud C, Laurent C, Teig E, Harris S, Leren TP, Früh A, Heimdal K. Siem G, et al. Among authors: fagerheim t. Int J Audiol. 2010 Aug;49(8):596-605. doi: 10.3109/14992021003743269. Int J Audiol. 2010. PMID: 20553101

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