Tomohiko Yamamura

Chuo, 6500017, Japan

Last Updated: 09/26/2026

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Found 116 publications

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Clinical and genetic characteristics of hypoparathyroidism, deafness, and renal dysplasia syndrome in a chronic kidney disease cohort.

Journal: Pediatric nephrology (Berlin, Germany)
Published: May 30, 2026

Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.

Clinical and functional evaluation of non-missense MYH9 variants in MYH9-related disease.

Journal: Clinical and experimental nephrology
Published: April 02, 2026

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.

A deep intronic IFT172 variant causing pseudoexon inclusion identified by whole-genome sequencing in nephronophthisis.

Journal: CEN case reports
Published: March 15, 2026

Efficacy and Safety of Rituximab Therapy to Sustain Remission in Young Children With Childhood Nephrotic Syndrome.

Efficacy and Safety of Rituximab Therapy to Sustain Remission in Young Children With Childhood Nephrotic Syndrome.

Journal: Kidney international reports
Published: March 05, 2026

Genetic Screening of Patients With Inherited Fanconi Syndrome.

Genetic Screening of Patients With Inherited Fanconi Syndrome.

Journal: Kidney international reports
Published: February 17, 2026

Kidney outcomes of coenzyme Q10 supplementation in patients with genetically confirmed CoQ10 nephropathy in Japan.

Kidney outcomes of coenzyme Q10 supplementation in patients with genetically confirmed CoQ10 nephropathy in Japan.

Journal: Clinical and experimental nephrology
Published: January 10, 2026

Nephrin-IgG co-localization expression in pediatric steroid-resistant nephrotic syndrome: a case series from Indonesia.

Nephrin-IgG co-localization expression in pediatric steroid-resistant nephrotic syndrome: a case series from Indonesia.

Journal: CEN case reports
Published: December 26, 2025

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants.

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants.

Journal: Kidney international reports
Published: December 12, 2025

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.

Journal: medRxiv : the preprint server for health sciences
Published: November 26, 2025

Clinical practice guideline for pediatric IgA vasculitis in Japan 2023: a digest-secondary publication.

Clinical practice guideline for pediatric IgA vasculitis in Japan 2023: a digest-secondary publication.

Journal: Clinical and experimental nephrology
Published: November 24, 2025

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome.

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome.

Journal: CEN case reports
Published: November 02, 2025

Membranous nephropathy secondary to very early-onset inflammatory bowel disease in a 3-year-old boy: case report.

Membranous nephropathy secondary to very early-onset inflammatory bowel disease in a 3-year-old boy: case report.

Journal: CEN case reports
Published: October 06, 2025
Showing 1-12 of 116

Last Updated: 09/26/2026