Associated Papers
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.
Sen S et al.
American Journal of Ophthalmology, 2024
Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Li J et al.
Pediatric Nephrology (berlin, Germany), 2023
Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies.
Rehman AU et al.
Scientific Reports, 2021
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.
Sallum JMF et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Porto FBO et al.
Genes, 2017
Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation.
Ronquillo CC et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Braun DA et al.
Kidney International, 2016
26489029 (PubMed )
Supplement: NIHMS723233-supplement-01.pdf
Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.
Gheissari A et al.
Iranian Journal of Kidney Diseases, 2015
Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.
Barbelanne M et al.
Human Molecular Genetics, 2013
IQCB1 mutations in patients with leber congenital amaurosis.
Estrada-Cuzcano A et al.
Investigative Ophthalmology & Visual Science, 2011
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