Maki Gau - Publications

Gonadotropin Suppression During Mini-Puberty as an Early Biomarker of Classic 21-Hydroxylase Deficiency.

Journal: Endocrinology, diabetes & metabolism

Published: June 27, 2026

Congenital adrenal hypoplasia with neurodevelopmental delay due to contiguous Xp21 deletion: a case series with review of literature.

Journal: Endocrine journal

Published: November 24, 2025

A Two-Step LC-MS/MS method to differentiate 21OHD and PORD in Screen-Positive newborns.

Journal: Endocrine

Published: November 14, 2025

Implementation of risk-reducing surgery for HBOC under public insurance in Japan: a single-center experience.

Journal: Familial cancer

Published: September 01, 2025

Hyaluronidase 2 deficiency due to novel compound heterozygous variants in HYAL2: a case report of siblings with HYAL2 deficiency showing different clinical severity and literature review.

Journal: Journal of human genetics

Published: January 10, 2025

Analysis of Functional cis-Regulatory Elements Reveals Novel Transcriptional Regulatory Mechanisms in Gonadal Development.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: September 05, 2024

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 31, 2023

Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation

Published: September 07, 2022

A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.

Journal: Frontiers in endocrinology

Published: August 31, 2022

BMP2 is a potential causative gene for isolated dextrocardia situs solitus.

Journal: European journal of medical genetics

Published: July 20, 2022

The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: June 04, 2022

Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant.

Journal: European journal of medical genetics

Published: April 29, 2022