Shinya Iwasawa

Sendai, Japan

Last Updated: 09/26/2026

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Found 12 publications

Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.

Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.

Journal: Journal of human genetics

Published: March 29, 2024

Persistent fever due to venous thrombosis associated with ulcerative colitis.

Persistent fever due to venous thrombosis associated with ulcerative colitis.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: February 17, 2024

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.

Journal: Journal of human genetics

Published: October 23, 2023

Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias.

Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias.

Journal: BMJ case reports

Published: September 28, 2022

Bilateral lung transplantation in a 9-year-old girl with bronchopulmonary dysplasia with pulmonary hypertension.

Bilateral lung transplantation in a 9-year-old girl with bronchopulmonary dysplasia with pulmonary hypertension.

Journal: Pediatric pulmonology

Published: March 17, 2021

A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.

A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes.

Journal: The Journal of clinical investigation

Published: January 22, 2021

Thoracic Empyema Secondary to Congenital Chylothorax in a 14-Month-Old Boy with Noonan Syndrome.

Thoracic Empyema Secondary to Congenital Chylothorax in a 14-Month-Old Boy with Noonan Syndrome.

Journal: Case reports in pediatrics

Published: December 27, 2020

Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 06, 2020

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.

Journal: Annals of neurology

Published: December 17, 2018

The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.

The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants.

Journal: Molecular genetics and metabolism

Published: December 11, 2018

Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Biallelic GALM pathogenic variants cause a novel type of galactosemia.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 05, 2018

Efficacy and Safety of Low-Dose Amiodarone Therapy for Tachyarrhythmia in Congenital Heart Disease.

Efficacy and Safety of Low-Dose Amiodarone Therapy for Tachyarrhythmia in Congenital Heart Disease.

Journal: Pediatric cardiology

Published: November 07, 2017

Showing 1-12 of 12

Last Updated: 09/26/2026