Development of a genotyping microarray for Usher syndrome

Autoria(s): Cremers, Frans P M; Kimberling, William J; Külm, Maigi; de Brouwer, Arjan P; van Wijk, Erwin; te Brinke, Heleen; Cremers, Cor W R J; Hoefsloot, Lies H; Banfi, Sandro; Simonelli, Francesca; Fleischhauer, Johannes C; Berger, Wolfgang; Kelley, Phil M; Haralambous, Elene; Bitner-Glindzicz, Maria; Webster, Andrew R; Saihan, Zubin; De Baere, Elfride; Leroy, Bart P; Silvestri, Giuliana; McKay, Gareth J; Koenekoop, Robert K; Millan, Jose M; Rosenberg, Thomas; Joensuu, Tarja; Sankila, Eeva-Marja; Weil, Dominique; Weston, Mike D; Wissinger, Bernd; Kremer, Hannie
Data(s)

01/02/2007
Resumo

Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons.
Identificador

http://pure.qub.ac.uk/portal/en/publications/development-of-a-genotyping-microarray-for-usher-syndrome(f5bdfd24-0266-4126-9d1d-3ac85026db51).html

http://dx.doi.org/10.1136/jmg.2006.044784
Idioma(s)

eng
Direitos

info:eu-repo/semantics/restrictedAccess
Fonte

Cremers , F P M , Kimberling , W J , Külm , M , de Brouwer , A P , van Wijk , E , te Brinke , H , Cremers , C W R J , Hoefsloot , L H , Banfi , S , Simonelli , F , Fleischhauer , J C , Berger , W , Kelley , P M , Haralambous , E , Bitner-Glindzicz , M , Webster , A R , Saihan , Z , De Baere , E , Leroy , B P , Silvestri , G , McKay , G J , Koenekoop , R K , Millan , J M , Rosenberg , T , Joensuu , T , Sankila , E-M , Weil , D , Weston , M D , Wissinger , B & Kremer , H 2007 , ' Development of a genotyping microarray for Usher syndrome ' Journal of Medical Genetics , vol 44 , no. 2 , pp. 153-60 . DOI: 10.1136/jmg.2006.044784
Palavras-Chave #DNA #DNA Primers #Europe #Genetic Variation #Genotype #Humans #Oligonucleotide Array Sequence Analysis #Usher Syndromes
Tipo

article
Acesso ao item digital