Tsutomu Ogata - Publications

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.

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

Published: May 31, 2026

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

Journal: Brain & development

Published: April 01, 2026

Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader-Willi Syndrome in Japan.

Journal: American journal of medical genetics. Part A

Published: January 06, 2026

Efficacy and safety of GH treatment in Japanese pediatric patients with SHOX deficiency: an open-label extension study.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: December 14, 2025

Clinical practice guidelines for the management of differences of sex development in Japan.

Journal: Endocrine journal

Published: December 03, 2025

Novel HK1 intronic variant in congenital hyperinsulinism: impaired transactivation function for FOXA2.

Journal: European journal of endocrinology

Published: October 27, 2025

Congratulations on the 100th anniversary of the Japan Endocrine Society.

Journal: Endocrine journal

Published: September 07, 2025

De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.

Journal: Journal of human genetics

Published: August 25, 2025

Clinical practice guidelines for the management of differences of sex development in Japan.

Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Published: August 13, 2025

A questionnaire-based survey on hyperphagia in individuals with Prader-Willi syndrome in Japan.

Journal: Endocrine journal

Published: July 24, 2025

Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 15, 2025