Nephronophthisis
- 1 June 2005
- journal article
- review article
- Published by Elsevier in Current Opinion in Genetics & Development
- Vol. 15 (3) , 324-331
- https://doi.org/10.1016/j.gde.2005.04.012
Abstract
No abstract availableKeywords
This publication has 55 references indexed in Scilit:
- Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonistNature Medicine, 2003
- Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosisNature Genetics, 2003
- A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in EvolutionAmerican Journal of Human Genetics, 2002
- The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystinNature Genetics, 2002
- Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile NephronophthisisAmerican Journal of Human Genetics, 2000
- Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan PedigreeAmerican Journal of Human Genetics, 2000
- Renal-retinal syndromes: Association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locusAmerican Journal of Kidney Diseases, 1998
- A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisisHuman Molecular Genetics, 1997
- A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1Nature Genetics, 1997
- Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisisHuman Molecular Genetics, 1996