Associated Papers
Clinical features and genetic analysis of 15 Chinese children with dent disease.
Li Q et al.
Renal Failure, 2024
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
The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.
Chen C et al.
Journal of Developmental Biology, 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
Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease.
Ye Q et al.
Clinical Genetics, 2020
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
[Clinical and genetic analysis of Dent disease in 4 Chinese children].
Jian S et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.
Sekine T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 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