DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands-Reference-Cited by-同舟云学术

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands

Published:2008-01 Issue:1 Volume:51 Page:24-34
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Kroes Hester Y.,van Zon Patrick H.A.,van de Putte Dietje Fransen,Nelen Marcel R.,Nievelstein Rutger-Jan,Wittebol-Post Dienke,van Nieuwenhuizen Onno,Mancini Grazia M.S.,van der Knaap Marjo S.,Kwee Mei Lan,Maas Saskia M.,Cobben Jan Maarten,De Nef Jacques E.E.,Lindhout Dick,Sinke Richard J.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference33 articles.

1. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome;Arts;Nat. Genet.,2007

2. The Meckel–Gruber syndrome gene, MKS3, is mutated in Joubert syndrome;Baala;Am. J. Hum. Genet.,2007

3. The ciliopathies: an emerging class of human genetic disorders;Badano;Annu. Rev. Genom. Hum. Genet.,2006

4. NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders;Castori;J. Med. Genet.,2005

5. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome;Delous;Nat. Genet.,2007

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