Shuang-xia X. Zhao

Shanghai, 200011, China

Last Updated: 09/26/2026

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Found 56 publications

Genetic screening and functional characterization of DUOX2 mutations in patients with congenital hypothyroidism.

Genetic screening and functional characterization of DUOX2 mutations in patients with congenital hypothyroidism.

Journal: Journal of the Endocrine Society

Published: April 17, 2026

Camurati-Engelmann disease with bilateral proptosis and optic neuropathy: a case report and literature review.

Camurati-Engelmann disease with bilateral proptosis and optic neuropathy: a case report and literature review.

Journal: Orbit (Amsterdam, Netherlands)

Published: April 08, 2026

First large-scale screening of Notch biallelic variants implicates novel candidate genes in congenital hypothyroidism.

First large-scale screening of Notch biallelic variants implicates novel candidate genes in congenital hypothyroidism.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 05, 2026

Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal.

Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal.

Journal: Thyroid : official journal of the American Thyroid Association

Published: September 08, 2025

Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism.

Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism.

Journal: European journal of endocrinology

Published: October 23, 2024

Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling.

Contactin 6, A Novel Causative Gene for Congenital Hypothyroidism, Mediates Thyroid Hormone Biosynthesis Through Notch Signaling.

Journal: Thyroid : official journal of the American Thyroid Association

Published: January 06, 2024

Identification of Eukaryotic Translation Initiation Factor 4B as a Novel Candidate Gene for Congenital Hypothyroidism.

Identification of Eukaryotic Translation Initiation Factor 4B as a Novel Candidate Gene for Congenital Hypothyroidism.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 06, 2023

TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.

TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.

Journal: Annals of laboratory medicine

Published: August 29, 2023

Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.

Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.

Journal: Hormone research in paediatrics

Published: March 15, 2023

Genetic mutation profiles for children with congenital hypothyroidism in Fujian province

Genetic mutation profiles for children with congenital hypothyroidism in Fujian province

Journal: Zhonghua yi xue za zhi

Published: February 05, 2023

Large-scale forward genetic screening of zebrafish affecting thyroid development.

Large-scale forward genetic screening of zebrafish affecting thyroid development.

Journal: Biochemical and biophysical research communications

Published: December 01, 2022

Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.

Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.

Journal: Journal of medical genetics

Published: August 06, 2022

Showing 1-12 of 56

Last Updated: 09/26/2026