Hirotomo Saitsu

Hamamatsu, 4313192, Japan

Last Updated: 09/26/2026

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Found 411 publications

Molecular analysis of testicular germ cell tumor in a male patient with 45,X/46,XY mosaicism: case report with review of literature.

Molecular analysis of testicular germ cell tumor in a male patient with 45,X/46,XY mosaicism: case report with review of literature.

Journal: Endocrine journal

Published: September 06, 2026

A novel CACNA1S variant associated with diltiazem-related worsening of hypokalemic periodic paralysis: a case report.

A novel CACNA1S variant associated with diltiazem-related worsening of hypokalemic periodic paralysis: a case report.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: May 31, 2026

Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function.

Functional evidence for SCN8A splice-donor variant c.4419+1 A > G causing loss of function.

Journal: Human genome variation

Published: May 13, 2026

Age-dependent electroclinical evolution from focal seizures to epileptic spasms in NUSAP1-related malformations of cortical development.

Age-dependent electroclinical evolution from focal seizures to epileptic spasms in NUSAP1-related malformations of cortical development.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: May 12, 2026

Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.

Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.

Journal: Brain & development

Published: April 01, 2026

Fibrin-related interference as a cause of spuriously elevated thyroid hormone measurements: Genetic and acquired factors.

Fibrin-related interference as a cause of spuriously elevated thyroid hormone measurements: Genetic and acquired factors.

Journal: Annals of clinical biochemistry

Published: March 16, 2026

Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.

Pontocerebellar hypoplasia type 9 with a novel combination of compound heterozygous variants in AMPD2.

Journal: Human genome variation

Published: February 25, 2026

Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells.

Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells.

Journal: Journal of human genetics

Published: February 18, 2026

Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.

Genotype-Phenotype Correlations in RPGRIP1-Associated Retinal Dystrophy in a Nationwide Japanese Cohort.

Journal: American journal of ophthalmology

Published: January 29, 2026

A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions.

A maternal exon H splice-site variant leading to pseudohypoparathyroidism type 1B with broad methylation defects in GNAS-differentially methylated regions.

Journal: Clinical epigenetics

Published: January 20, 2026

Spuriously Elevated Free Thyroxine Due to Fibrin Interference in a Patient Receiving Apixaban: A Case Report and Literature Review.

Spuriously Elevated Free Thyroxine Due to Fibrin Interference in a Patient Receiving Apixaban: A Case Report and Literature Review.

Journal: Internal medicine (Tokyo, Japan)

Published: January 04, 2026

Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant.

Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant.

Journal: Annals of human genetics

Published: December 08, 2025

Showing 1-12 of 411

Last Updated: 09/26/2026