Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening
- 31 January 2000
- journal article
- Published by Elsevier in American Journal of Kidney Diseases
- Vol. 35 (1) , 44-51
- https://doi.org/10.1016/s0272-6386(00)70300-3
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- 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 Bedouin Kindred with Infantile Nephronophthisis Demonstrates Linkage to Chromosome 9 by Homozygosity MappingAmerican Journal of Human Genetics, 1998
- Autosomal dominant medullary cystic disease: a disorder with variable clinical pictures and exclusion of linkage with the NPH1 locusNephrology Dialysis Transplantation, 1998
- Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneityNephrology Dialysis Transplantation, 1998
- Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney diseaseHuman Molecular Genetics, 1998
- Construction of a Gene Map of the Nephronophthisis Type 1 (NPHP1) Region on Human Chromosome 2q12–q13Genomics, 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
- A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2pNature Genetics, 1993