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Article

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

2 Jun 2004

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Share to Fetal and Pediatric Neurological Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 15138899
DOI: 10.1086/421846

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert SyndromePMID 15138899Read ↗

Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile NephronophthisisSemantic proximity Read ↗

Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adultsSemantic proximity Read ↗

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.Semantic proximity Read ↗

NephronophthisisSemantic proximity Read ↗

NephronophthisisSemantic proximity Read ↗

Exploring the genetics of nephronophthisis and Joubert Syndrome…more than monogenic cystic renal diseases?!Semantic proximity Read ↗

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.Semantic proximity Read ↗

Identification of an NPHP1 deletion causing adult form of nephronophthisis.Semantic proximity Read ↗

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisisSemantic proximity Read ↗

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.Semantic proximity Read ↗

Analysis of the NPHP genes in two Japanese patients with suspected sporadic juvenile or adolescent nephronophthisis.Semantic proximity Read ↗

Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated DisordersSemantic proximity Read ↗

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