Yoshimi Nozu

Kobe, Japan

Last Updated: 09/26/2026

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Found 18 publications

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.

Genotype-phenotype correlations influence the response to angiotensin-targeting drugs in Japanese patients with male X-linked Alport syndrome.

Journal: Kidney international

Published: February 18, 2020

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

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

Journal: Nature communications

Published: May 05, 2019

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

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

Journal: Molecular genetics & genomic medicine

Published: December 11, 2018

Clinical spectrum of male patients with OFD1 mutations.

Clinical spectrum of male patients with OFD1 mutations.

Journal: Journal of human genetics

Published: October 01, 2018

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.

Journal: Kidney international reports

Published: May 22, 2018

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

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

Journal: Journal of the American Society of Nephrology : JASN

Published: March 01, 2018

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

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

Journal: Journal of human genetics

Published: December 19, 2017

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

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

Journal: Clinical and experimental nephrology

Published: December 14, 2017

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

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

Journal: Nephron

Published: July 12, 2017

A birth of bipartite exon by intragenic deletion.

A birth of bipartite exon by intragenic deletion.

Journal: Molecular genetics & genomic medicine

Published: November 18, 2016

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

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

Journal: Kidney international reports

Published: October 14, 2016

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

Journal: Journal of human genetics

Published: August 23, 2016

Showing 1-12 of 18

Last Updated: 09/26/2026