Associated Papers
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
Du R et al.
Pediatric Nephrology (berlin, Germany), 2024
The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.
Chen C et al.
Journal of Developmental Biology, 2022
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Álvarez-Mora MI et al.
Orphanet Journal of Rare Diseases, 2022
Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations.
Zhang L et al.
Genetics Research, 2022
Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
Gianesello L et al.
Genes, 2021
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.
Gianesello L et al.
Human Genetics, 2021
Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.
Nakano E et al.
Journal of Human Genetics, 2020
Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review.
David S et al.
Acta Clinica Belgica, 2019
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
Suarez-Artiles L et al.
Genes, 2018
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
The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.
De Matteis MA et al.
Nature Reviews. Nephrology, 2017
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A et al.
Pediatric Nephrology (berlin, Germany), 2016
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
Recker F et al.
Pediatric Nephrology (berlin, Germany), 2015
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.
Madrigal I et al.
Journal of Clinical Pathology, 2014
Inositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathies.
Conduit SE et al.
Febs Letters, 2012
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
Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes.
Jfri AH et al.
Journal of Cutaneous Medicine and Surgery, 0