| Evidence | Deletion in Nephronophthisis
- Hildebrandt F, Rensing C, Betz R, Sommer U, Birnbaum S, Imm A, Omran H, Leipoldt M, Otto E, Hildebrandt F, Rensing C, Betz R, Sommer U, Birnbaum S, Imm A, Omran H, Leipoldt M, Otto E Establishing an algorithm for molecular genetic diagnostics in 127families with juvenile nephronophthisis. Kidney Int 2001 Feb;59(2):434-45.
- Otto E, Betz R, Rensing C, Schatzle S, Kuntzen T, Vetsi T, Imm A, Hildebrandt F A deletion distinct from the classical homologous recombination ofjuvenile nephronophthisis type 1 (NPH1) allows exact molecular definitionof deletion breakpoints. Hum Mutat 2000 Sep;16(3):211-23.
- Saunier S, Calado J, Benessy F, Silbermann F, Heilig R, Weissenbach J, Antignac C Characterization of the NPHP1 locus: mutational mechanism involved indeletions in familial juvenile nephronophthisis. Am J Hum Genet 2000 Mar;66(3):778-89.
- Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H, Brandis M A novel gene encoding an SH3 domain protein is mutated in nephronophthisistype 1. Nat Genet 1997 Oct;17(2):149-53.
- Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F, Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F Children with ocular motor apraxia type Cogan carry deletions in the gene(NPHP1) for juvenile nephronophthisis. J Pediatr 2000 Jun;136(6):828-31.
- Takano K, Nakamoto T, Okajima M, Sudo A, Uetake K, Saitoh S Cerebellar and brainstem involvement in familial juvenile nephronophthisistype I. Pediatr Neurol 2003 Feb;28(2):142-4.
Other key publications related to this gene
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