Associated Papers
Phenotype and genotype analyses of 21 Chinese patients with Dent disease.
Che R et al.
Journal of Biomedical Research, 2025
40420588 (PubMed )
Supplement: jbr-39-4-356-Supplementary.pdf
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
A case of Dent disease type 2 with large deletion of OCRL diagnosed after close examination of a school urinary test.
Motoyoshi Y et al.
Cen Case Reports, 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
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
[Clinical features and genetic variants of Dent disease in 10 children].
Zhao SL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.
Suarez-Artiles L et al.
Genes, 2018
29300302 (PubMed )
Supplement: genes-09-00015-s001.pdf
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
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
[From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes].
Levtchenko EN et al.
Nederlands Tijdschrift Voor Geneeskunde, 2007
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