ExpandingCEP290mutational spectrum in ciliopathies-Reference-Cited by-同舟云学术

ExpandingCEP290mutational spectrum in ciliopathies

Published:2009-10 Issue:10 Volume:149A Page:2173-2180
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Travaglini Lorena,Brancati Francesco,Attie-Bitach Tania,Audollent Sophie,Bertini Enrico,Kaplan Josseline,Perrault Isabelle,Iannicelli Miriam,Mancuso Brunella,Rigoli Luciana,Rozet Jean-Michel,Swistun Dominika,Tolentino Jerlyn,Dallapiccola Bruno,Gleeson Joseph G.,Valente Enza Maria,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome;Baala;Am J Hum Genet,2007

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

3. Dissection of epistasis in oligogenic Bardet-Biedl syndrome;Badano;Nature,2006

4. The ciliopathies: An emerging class of human genetic disorders;Badano;Annu Rev Genomics Hum Genet,2006

5. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders;Brancati;Am J Hum Genet,2007

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1. Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene;American Journal of Ophthalmology;2023-04

2. Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features.;F1000Research;2023-03-31

3. Radiological Features of Joubert's Syndrome;Journal of Pediatric Neurology;2023-01-05

4. An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD);Journal of Pediatric Neurology;2023-01-05

5. A Brief Focus on Joubert Syndrome and Related Acute Complications;Journal of Pediatric Neurology;2023-01-05