Associated Papers
Senior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.
Demirtas İ et al.
Journal of Medical Case Reports, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.
Sen S et al.
American Journal of Ophthalmology, 2024
Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.
Miraldi Utz V et al.
Ophthalmic Genetics, 2023
Genetic analysis of patients with nonsyndromic and syndromic retinitis pigmentosa in Puerto Rico: a genetic legacy.
Vargas JG et al.
Ophthalmic Genetics, 2022
SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.
Yahalom C et al.
Retina (philadelphia, Pa.), 2021
Senior-Loken syndrome secondary to IQCB1 mutation in association with retinitis pigmentosa.
Rishi E et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Wang X et al.
Journal of Medical Genetics, 2013
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
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Stone EM et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2011
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
Otto EA et al.
Human Mutation, 2008
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Otto EA et al.
Nature Genetics, 2005