Mutations of NPHP2 and NPHP3 in infantile nephronophthisis-Reference-Cited by-同舟云学术

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis

Published:2009-04 Issue:8 Volume:75 Page:839-847
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Tory Kálmán,Rousset-Rouvière Caroline,Gubler Marie-Claire,Morinière Vincent,Pawtowski Audrey,Becker Céline,Guyot Claude,Gié Sophie,Frishberg Yaacov,Nivet Hubert,Deschênes Georges,Cochat Pierre,Gagnadoux Marie-France,Saunier Sophie,Antignac Corinne,Salomon Rémi

Publisher

Elsevier BV

Subject

Nephrology

Reference31 articles.

1. Nephronophthisis;Saunier;Curr Opin Genet Dev,2005

2. Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree;Omran;Am J Hum Genet,2000

3. Progressive tubulointerstitial renal disease in infancy with associated hepatic abnormalities;Harris;Am J Med,1986

4. Infantile nephronophthisis;Bodaghi;Int J Pediatr Nephrol,1987

5. Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?;Gagnadoux;Pediatr Nephrol,1989

Cited by 103 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. Validation of Gene Expression Patterns for Oral Feeding Readiness: Transcriptional Analysis of Set of Genes in Neonatal Salivary Samples;Genes;2024-07-18

2. Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants;Molecular Genetics & Genomic Medicine;2024-03

3. Presentation of glomerulocystic disease in a young onset diabetes: A case report;Medicine;2024-01-26

4. Genetics of Common Birth Defects in Newborns;Principles of Neonatology;2024

5. Identification of a synonymous variant of NPHP3 causing aberrant splicing and its pathogenicity in a Chinese pedigree;2023-11-21