Usher syndrome in Denmark: mutation spectrum and some clinical observations-Reference-Cited by-同舟云学术

Usher syndrome in Denmark: mutation spectrum and some clinical observations

Published:2016-06-28 Issue:5 Volume:4 Page:527-539
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Dad Shzeena¹,Rendtorff Nanna Dahl¹²³,Tranebjaerg Lisbeth¹²³,Grønskov Karen¹²,Karstensen Helena Gásdal²,Brox Vigdis⁴,Nilssen Øivind⁴⁵,Roux Anne-Françoise⁶⁷,Rosenberg Thomas⁸⁹,Jensen Hanne⁸,Møller Lisbeth Birk¹²¹⁰

Affiliation:

1. Applied Human Genetics; Kennedy Center; Department of Clinical Genetics; Copenhagen University; Rigshospitalet Glostrup Denmark

2. Department of Cellular and Molecular Medicine; The Faculty of Health Sciences; University of Copenhagen; 2200 Copenhagen Denmark

3. Department of Otorhinolaryngology, Head & Neck Surgery and Audiology; Bispebjerg Hospital/Rigshospitalet; Copenhagen Denmark

4. Department of Medical Genetics; University Hospital of North-Norway; N-9038 Tromsø Norway

5. Department of Clinical Medicine, Medical Genetics; University of Tromsø; NO-9037 Tromsø Norway

6. Laboratoire de Génétique Moléculaire; CHU Montpellier; Montpellier F-34000 France

7. U827; Inserm; Montpellier F-34000 France

8. The National Eye Clinic; The Kennedy Center; Department of Ophthalmology; Copenhagen University Hospital; 2600 Rigshospitalet Glostrup Denmark

9. Institute of Clinical Medicine; The Faculty of Health Sciences; University of Copenhagen; 2200 Copenhagen N Denmark

10. Department of Science Systems and Models (NSM); Roskilde University; DK 4000 Roskilde Denmark

Funder

Oticon Fonden

Jascha Foundation

The Dag Lenard Foundation

Augustinus Fonden

Director Jacob Madsen and wife Olga Madsen Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference43 articles.

1. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis;Bonnet;Orphanet J. Rare Dis.,2011

2. Usher syndrome: definition and estimate of prevalence from two high-risk populations;Boughman;J. Chronic Dis.,1983

3. Development of a genotyping microarray for Usher syndrome;Cremers;J. Med. Genet.,2007

4. Partial USH2A deletions contribute to Usher syndrome in Denmark;Dad;Eur. J. Hum. Genet.,2015

5. Identification of novel USH2A mutations: implications for the structure of USH2A protein;Dreyer;Eur. J. Hum. Genet.,2000

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