Erika Uehara - Publications

Clustered Structural Variants Involving PHEX at Xp22 in a Female Patient with X-Linked Hypophosphatemia.

Journal: Cytogenetic and genome research

Published: March 27, 2025

KCNJ11 readthrough variant in a patient with congenital hyperinsulinism.

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

Published: February 18, 2025

Clinical and Genetic Characteristics of Adult Nonautoimmune Hypothyroidism: A Single-institution Study.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 14, 2025

DHX37 variants in patients with 46,XY disorders or differences of sex development.

Journal: Human genome variation

Published: December 24, 2024

Amplicon-based targeted next-generation sequencing using dried blood spots for 46,XY differences/disorders of sex development: Aiming for diagnosis by minimally invasive testing.

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

Published: October 24, 2024

Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.

Journal: Thyroid : official journal of the American Thyroid Association

Published: May 17, 2024

ABCC8 haploinsufficiency in a mother-daughter pair with young-onset diabetes with and without neonatal hypoglycemia.

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

Published: May 14, 2024

Congenital Hypothyroidism with Thyroid in situ: A Case Report with NKX2-1 and DUOX2 Hypomorphic Variants.

Journal: Hormone research in paediatrics

Published: November 21, 2023

Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone.

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

Published: September 21, 2023

Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.

Journal: Nature genetics

Published: July 30, 2023

Unbalanced Y;7 Translocation between Two Low-Similarity Sequences Leading to SRY-Positive 45,X Testicular Disorders of Sex Development.

Journal: Cytogenetic and genome research

Published: April 29, 2019

Utility of follow-up blood cultures for Gram-negative rod bacteremia in children.

Journal: Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy

Published: February 19, 2019