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Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.Changes in the numbers of patients with acute gastroenteritis after voluntary introduction of the rotavirus vaccine in a Japanese children's primary emergency medical center.Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.Clinical characteristics and long-term outcome of diarrhea-associated hemolytic uremic syndrome: a single center experience.Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases.Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.Female X-linked Alport syndrome with somatic mosaicism.Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.Diagnostic strategy for inherited hypomagnesemia.Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.Cryptic exon activation in SLC12A3 in Gitelman syndrome.Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes.Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits.A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.Three Severe Cases of Viral Infections with Post-Kidney Transplantation Successfully Confirmed by Polymerase Chain Reaction and Flow CytometryClinical spectrum of male patients with OFD1 mutationsThe utility of urinary CD80 as a diagnostic marker in patients with renal diseasesA review of clinical characteristics and genetic backgrounds in Alport syndrome.Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndromeDetection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport SyndromeMolecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndromePair analysis and custom array CGH can detect a small copy number variation in COQ6 geneClinical and Genetic Characteristics in Patients With Gitelman SyndromeTGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndromeClinical characteristics of HNF1B-related disorders in a Japanese populationMolecular mechanisms determining severity in patients with Pierson syndromeDetermination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assayDevelopment of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5A pediatric case of tocilizumab-resistant TAFRO syndrome treated successfully with rituximab
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P50
description
investigador
@es
researcher
@en
name
Shogo Minamikawa
@en
type
label
Shogo Minamikawa
@en
prefLabel
Shogo Minamikawa
@en
P31
P496
0000-0001-9652-6266