The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome
- 1 July 2004
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 75 (1), 82-91
- https://doi.org/10.1086/421846
Abstract
No abstract availableThis publication has 46 references indexed in Scilit:
- From cilia to cystNature Genetics, 2003
- Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinationNature Genetics, 2003
- Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile NephronophthisisAmerican Journal of Human Genetics, 2000
- Construction of a Gene Map of the Nephronophthisis Type 1 (NPHP1) Region on Human Chromosome 2q12–q13Genomics, 1998
- Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type BPediatric Nephrology, 1998
- Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice.JCI Insight, 1997
- A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1Nature Genetics, 1997
- Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failureKidney International, 1997
- Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisisHuman Molecular Genetics, 1996
- Cogan's Congenital Ocular Motor Apraxia in Two Successive GenerationsDevelopmental Medicine and Child Neurology, 1972