Yasuko Fujisawa - 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

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

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

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

Journal: The Journal of clinical endocrinology and metabolism

Published: July 15, 2025

Improvement in body composition of Japanese participants with Prader-Willi syndrome following somatropin treatment: an open-label, multi cohort Phase 3 study.

Journal: Endocrine journal

Published: May 28, 2025

Production of 11-ketotestosterone in childhood adrenal tumors with virilization or peripheral precocious puberty: Dominant expression of 11β-hydroxysteroid dehydrogenase type 2.

Journal: The Journal of steroid biochemistry and molecular biology

Published: January 12, 2025

Glutamic acid decarboxylase antibody-spectrum disorders and type 1 diabetes mellitus in a patient following allogenic hematopoietic cell transplantation with review of literature.

Journal: Endocrine journal

Published: December 04, 2024

Homozygous FIGLA missense variant in two Japanese sisters with primary ovarian insufficiency: Case reports and literature review.

Journal: Reproductive medicine and biology

Published: October 04, 2024

Insulin resistant diabetes mellitus in a girl with mild Rabson-Mendenhall syndrome: efficacy of sodium glucose co-transporter 2 inhibitor.

Journal: Diabetology international

Published: June 05, 2024

17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.

Journal: Internal medicine (Tokyo, Japan)

Published: April 10, 2024