Lista de obras -

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.

artículo científico publicado en 2017

A pediatric case of tocilizumab-resistant TAFRO syndrome treated successfully with rituximab

scientific article published on 22 June 2020

A review of clinical characteristics and genetic backgrounds in Alport syndrome.

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

artículo científico publicado en 2017

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

scientific article published on 28 September 2018

Clinical characteristics and long-term outcome of diarrhea-associated hemolytic uremic syndrome: a single center experience.

artículo científico publicado en 2017

Clinical characteristics of HNF1B-related disorders in a Japanese population

artículo científico publicado en 2019

Clinical spectrum of male patients with OFD1 mutations

article

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

artículo científico publicado en 2019

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

scientific article published on 30 May 2018

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

artículo científico publicado en 2016

Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome

scientific article published on 29 June 2018

Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits

artículo científico publicado en 2017

Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases

artículo científico publicado en 2018

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

scientific article published on 03 September 2019

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

artículo científico publicado en 2020

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

artículo científico publicado en 2018

Diagnostic strategy for inherited hypomagnesemia

artículo científico publicado en 2017

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

artículo científico publicado en 2015

Female X-linked Alport syndrome with somatic mosaicism.

artículo científico publicado en 2016

Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes.

artículo científico publicado en 2018

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

artículo científico publicado en 2016

Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome

scientific article published on 23 April 2019

Molecular mechanisms determining severity in patients with Pierson syndrome

scientific article published on 21 January 2020

Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.

artículo científico publicado en 2017

Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene

scientific article published on 24 December 2018

Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1

artículo científico publicado en 2015

Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.

artículo científico publicado en 2016

TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?

scientific article published on 07 August 2018

The utility of urinary CD80 as a diagnostic marker in patients with renal diseases

artículo científico publicado en 2018

Three Severe Cases of Viral Infections with Post-Kidney Transplantation Successfully Confirmed by Polymerase Chain Reaction and Flow Cytometry

artículo científico publicado en 2018

Lista de obras de

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.

A pediatric case of tocilizumab-resistant TAFRO syndrome treated successfully with rituximab

A review of clinical characteristics and genetic backgrounds in 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

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome

Clinical characteristics and long-term outcome of diarrhea-associated hemolytic uremic syndrome: a single center experience.

Clinical characteristics of HNF1B-related disorders in a Japanese population

Clinical spectrum of male patients with OFD1 mutations

Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome

Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits

Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases

Determination of the pathogenicity of known COL4A5 intronic variants by in vitro splicing assay

Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

Diagnostic strategy for inherited hypomagnesemia

Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics.

Female X-linked Alport syndrome with somatic mosaicism.

Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes.

Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome

Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome

Molecular mechanisms determining severity in patients with Pierson syndrome

Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome.

Pair analysis and custom array CGH can detect a small copy number variation in COQ6 gene

Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1

Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.

TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?

The utility of urinary CD80 as a diagnostic marker in patients with renal diseases

Three Severe Cases of Viral Infections with Post-Kidney Transplantation Successfully Confirmed by Polymerase Chain Reaction and Flow Cytometry