Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes-Reference-Cited by-同舟云学术

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Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

Published:2010-01-29 Issue:4 Volume:31 Page:429-436
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Hjortshøj Tina Duelund,Grønskov Karen,Philp Alisdair R.,Nishimura Darryl Y.,Riise Ruth,Sheffield Val C.,Rosenberg Thomas,Brøndum-Nielsen Karen

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21204/fullpdf

Reference57 articles.

1. Investigation cliniques et génétiques sur le syndrome de Bardet-Biedl en Suisse;Ammann;J Genet Hum,1970

2. Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity;Andersen;J Clin Endocrinol Metab,2005

3. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome;Ansley;Nature,2003

4. Retinal Disease Expression in Bardet-Biedl Syndrome-1 (BBS1) Is a Spectrum from Maculopathy to Retina-Wide Degeneration;Azari;Invest Ophthalmol Vis Sci,2006

5. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2;Badano;Am J Hum Genet,2003a

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