Nephronophthisis type 1 deletion syndrome with neurological symptoms: Prevalence and significance of the association
- 1 October 2006
- journal article
- research article
- Published by Elsevier in Kidney International
- Vol. 70 (7) , 1342-1347
- https://doi.org/10.1038/sj.ki.5001768
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4Nature Genetics, 2006
- Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndromeNature Genetics, 2006
- Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulinNature Genetics, 2005
- 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
- Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosisNature Genetics, 2003
- The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystinNature Genetics, 2002
- Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisisKidney International, 2001
- Juvenile Nephronophthisis and Related Variants: Clinical Features and Molecular ApproachPublished by S. Karger AG ,2001
- 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