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

Autor: Rendtorff, Nd, Schrijver, I, Lodahl, Marianne, Rodriguez-Paris, J, Johnsen, T, Hansén, Ec, Nickelsen, Laa, Tümer, Zeynep, Fagerheim, T, Wetke, R, Tranebjaerg, L

Publikováno v: Rendtorff, N, Schrijver, I, Lodahl, M, Rodriguez-Paris, J, Johnsen, T, Hansén, E, Nickelsen, L, Tümer, Z, Fagerheim, T, Wetke, R & Tranebjaerg, L 2013, ' SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations ', Clinical Genetics . https://doi.org/10.1111/cge.12074

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::8ecf00931c00ca21e743e91a7b79a24a
https://pure.au.dk/portal/da/publications/slc26a4-mutation-frequency-and-spectrum-in109-danish-pendred-syndromedfnb4-probands-and-a-report-of-nine-novel-mutations(36e75537-1cf4-47d6-9563-f60c4fec0ff4).html

Homozygosity mapping to the USH2A locus in two isolated populations

Autor: Fagerheim, T, Raeymaekers, P, Merren, J, Mani, K, Jha, G, Baumbach, L, Brox, V, Breines, E, Holdo, B, Holdo, A, Tranebjarg, L

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 for 6-10% of all congenital sensor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2f0d44402169869f3316da8539aed904
https://europepmc.org/articles/PMC1734290/

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

Autor: Fagerheim, T., Raeymaekers, P., Tonnessen, F. E., Pedersen, M., Tranebjarg, L., Lubs, H.

Publikováno v: Journal of medical genetics

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 life. Possible l

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7de047694f8bd0a197ce8562b9cc201c
https://hdl.handle.net/10067/996130151162165141

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