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T Fagerheim

Explore the profile of T Fagerheim including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 97
Followers 0
Related Specialties
Genetics
Molecular Biology
Ophthalmology
Top 10 Co-Authors
L Tranebjaerg
P Raeymaekers
V Brox
H H Elverland
K Verhoeven
S Andreasson
G K Fostad
O Sandgren
F De Clau
H A Lubs
Published In
J Med Genet
Hum Mol Genet
Hum Genet
Ophthalmic Genet
Adv Otorhinolaryngol
Affiliations
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Recent Articles
1.
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations
Rendtorff N, Schrijver I, Lodahl M, Rodriguez-Paris J, Johnsen T, Hansen E, et al.
Clin Genet . 2013 Jan; 84(4):388-91. PMID: 23336812
No abstract available.
2.
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 H, Ponjavic V, Fagerheim T, Andreasson S, Forsman-Semb K, et al.
Ophthalmic Genet . 2001 Jan; 21(4):197-209. PMID: 11135490
We present the clinical and molecular genetic features of a large multi-generation Norwegian family with dominant cone-rod dystrophy. Ophthalmological evaluation including electroretinography showed cone dysfunction in younger patients, with rod...
3.
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment
Verhoeven K, Fagerheim T, Prasad S, Wayne S, De Clau F, Balemans W, et al.
Hum Genet . 2000 Sep; 107(1):7-11. PMID: 10982027
DFNA10 originally was mapped to the long arm of chromosome 6 in a large American family segregating for autosomal dominant progressive nonsyndromic hearing impairment. By extending this American family, we...
4.
DFNA7
Tranebjaerg L, Elverland H, Fagerheim T
Adv Otorhinolaryngol . 2000 Jun; 56:97-100. PMID: 10868219
No abstract available.
5.
A new gene (DYX3) for dyslexia is located on chromosome 2
Fagerheim T, Raeymaekers P, Tonnessen F, Pedersen M, Tranebjaerg L, Lubs H
J Med Genet . 1999 Oct; 36(9):664-9. PMID: 10507721
Developmental dyslexia is a specific reading disability affecting children and adults who otherwise possess normal intelligence, cognitive skills, and adequate schooling. Difficulties in spelling and reading may persist through adult...
6.
Homozygosity mapping to the USH2A locus in two isolated populations
Fagerheim T, Raeymaekers P, Merren J, Mani K, Jha G, Baumbach L, et al.
J Med Genet . 1999 Mar; 36(2):144-7. PMID: 10051015
Usher syndrome is a group of autosomal recessive disorders characterised by progressive visual loss from retinitis pigmentosa and moderate to severe sensorineural hearing loss. Usher syndrome is estimated to account...
7.
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 H, et al.
Hum Mol Genet . 1996 Aug; 5(8):1187-91. PMID: 8842739
Hereditary hearing impairment affects about 1 in 1000 newborns. In most cases hearing loss is non-syndromic with no other clinical features, while in other families deafness is associated with specific...