Ikuko Takahashi - Publications

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.

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

Published: May 29, 2023

A child with branchio-oto-renal spectrum disorder carrying an SIX1 variant.

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

Published: April 25, 2023

Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.

Journal: Patient preference and adherence

Published: April 13, 2023

Identification of small-sized intrachromosomal segments at the ends of INV-DUP-DEL patterns.

Journal: Journal of human genetics

Published: February 09, 2023

Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3.

Journal: Human genome variation

Published: February 28, 2022

Knowns and unknowns about congenital hypothyroidism: 2022 update.

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

Published: February 16, 2022

A Survey of Genetic Counseling for Non-invasive Prenatal Testing Examinees in Akita.

Journal: JMA journal

Published: February 03, 2022

Investigation of TSH receptor blocking antibodies in childhood-onset atrophic autoimmune thyroiditis.

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

Published: September 08, 2020

Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney-urinary tract in pediatric Turner syndrome.

Journal: Congenital anomalies

Published: May 15, 2020

Levothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan.

Journal: Hormone research in paediatrics

Published: April 14, 2019

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.

Journal: Molecular genetics & genomic medicine

Published: November 13, 2018

A novel ZC4H2 gene mutation, K209N, in Japanese siblings with arthrogryposis multiplex congenita and intellectual disability: characterization of the K209N mutation and clinical findings.

Journal: Brain & development

Published: January 09, 2018