Associated Papers
Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report.
Duque-Cordoba PA et al.
Medicine, 2023
38013309 (PubMed )
Supplement: medi-102-e35600-s001.pdf
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V et al.
Journal of Medical Genetics, 2023
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome.
Shi X et al.
Nature Cell Biology, 2017
Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.
Hartill V et al.
Frontiers in Pediatrics, 2017
Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice.
Stratigopoulos G et al.
Cell Metabolism, 2014
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
Szymanska K et al.
Cilia, 2012
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F et al.
Clinical Genetics, 2008
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
Wolf MT et al.
Kidney International, 2007
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Arts HH et al.
Nature Genetics, 2007
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous M et al.
Nature Genetics, 2007
Genotypes and phenotypes of Joubert syndrome and related disorders.
Valente EM et al.
European Journal of Medical Genetics, 0
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