Masatsune Itoh - Publications

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Journal: Developmental dynamics : an official publication of the American Association of Anatomists

Published: February 12, 2025

Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision).

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

Published: September 13, 2022

Three pediatric cases of symptomatic hyponatremia in Prader-Willi syndrome.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: March 11, 2022

Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a.

Journal: Bone reports

Published: January 05, 2022

Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.

Journal: Clinical epigenetics

Published: December 28, 2018

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.

Journal: Journal of inherited metabolic disease

Published: March 08, 2017

Angelman Syndrome Caused by Chromosomal Rearrangements: A Case Report of 46,XX,+der(13)t(13;15)(q14.1;q12)mat,-15 with an Atypical Phenotype and Review of the Literature.

Journal: Cytogenetic and genome research

Published: July 04, 2016

A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1.

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

Published: May 19, 2016

A novel frameshift mutation in the TRPS1 gene caused Tricho-rhino-phalangeal syndrome type I and III in a Japanese family.

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

Published: February 29, 2016

Intermittent X-linked thrombocytopenia with a novel WAS gene mutation.

Journal: Pediatric blood & cancer

Published: July 26, 2013

Clinical features of insulinoma in patients with multiple endocrine neoplasia type 1: analysis of the database of the MEN Consortium of Japan.

Journal: Endocrine journal

Published: July 13, 2012