Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions.
Rossanti R et al.
Kidney International Reports, 2025
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Case Report: Combined Cataract Surgery and Minimally Invasive Glaucoma Surgery Provide an Alternative Treatment Approach for Lowe Syndrome.
Wang C et al.
Frontiers in Medicine, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome.
Liu X et al.
Stem Cell Research, 2021
Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome.
Sun J et al.
Clinical and Experimental Nephrology, 2020
Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature.
Tatsi P et al.
Journal of Medical Case Reports, 2019
Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.
Xiong J et al.
Frontiers in Neuroscience, 2019
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018
A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.
Nakanishi K et al.
European Journal of Medical Genetics, 2017
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Recker F et al.
Pediatric Nephrology (berlin, Germany), 2015
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H et al.
Human Mutation, 2011