Hironori Shibata - Publications

Characteristic external genitalia in male neonates with 5α-reductase deficiency.

Journal: Endocrine journal

Published: July 24, 2024

Pitfalls in estradiol measurement by electrochemiluminescence immunoassay: A case study of a prepubertal girl with a falsely elevated serum estradiol level.

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

Published: September 04, 2023

Two Japanese Infants With Hypothyroidism Following Exposure to Iodinated Contrast Media.

Journal: JCEM case reports

Published: September 07, 2022

A novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly.

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

Published: August 18, 2022

Intracranial germinoma in the lateral ventricle with polydipsia and polyuria: a case report and literature review.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: August 08, 2022

An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report.

Journal: BMC endocrine disorders

Published: July 19, 2022

Genetic and functional analyses of TBX4 reveal novel mechanisms underlying pulmonary arterial hypertension.

Journal: Journal of molecular and cellular cardiology

Published: January 17, 2022

Potential benefits of rapid genetic testing for germline WT1 in infants with bilateral renal tumors: A case report.

Journal: Pediatric blood & cancer

Published: April 10, 2021

An infant with congenital nephrogenic diabetes insipidus presenting with hypercalcemia and hyperphosphatemia.

Journal: Endocrinology, diabetes & metabolism case reports

Published: November 13, 2020

A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease.

Journal: Human genome variation

Published: August 28, 2020

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.

Journal: Human genome variation

Published: August 21, 2020

Relapsing 6q24-related transient neonatal diabetes mellitus with insulin resistance: A case report.

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

Published: February 20, 2020