The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome-Reference-Cited by-同舟云学术

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

Published:2004-07 Issue:1 Volume:75 Page:82-91
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Parisi Melissa A.,Bennett Craig L.,Eckert Melissa L.,Dobyns William B.,Gleeson Joseph G.,Shaw Dennis W.W.,McDonald Ruth,Eddy Allison,Chance Phillip F.,Glass Ian A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference49 articles.

1. Nephronophthisis;Antignac,1998

2. Late onset of renal disease in nephronophthisis with features of Joubert syndrome type B;Apostolou;Nephrol Dial Transplant,2001

3. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome;Beales;Am J Hum Genet,2003

4. Clinical and genetic aspects of the Joubert syndrome: a disorder characterised by cerebellar vermian hypoplasia and accompanying brainstem malformations;Bennett;Curr Genomics,2003

5. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis;Betz;J Pediatr,2000

Cited by 221 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Early-onset renal dysfunction in Jeune syndrome: A case report with atypical presentation;Radiology Case Reports;2024-12

2. Ophthalmıc fındıngs ın Joubert syndrome 25: A case report;Indian Journal of Ophthalmology - Case Reports;2024-04

3. Structurally divergent and recurrently mutated regions of primate genomes;Cell;2024-03

4. Primary cilia in skeletal development and disease;Experimental Cell Research;2023-10

5. RANBP2 evolution and human disease;FEBS Letters;2023-10