Associated Papers
Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.
Tsai CC et al.
The Kaohsiung Journal of Medical Sciences, 2024
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
Tang X et al.
Heliyon, 2024
Conservative Treatment of Fetal Goitrous Hypothyroidism Due to Thyroglobulin Mutations: A Case Report and Literature Review.
Liu S et al.
Maternal-fetal Medicine (wolters Kluwer Health, Inc.), 2023
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Case Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.
Yang R et al.
Frontiers in Genetics, 2021
DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.
Sorapipatcharoen K et al.
Endocrine Connections, 2020
Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement.
Mizokami T et al.
Internal Medicine (tokyo, Japan), 2019
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F et al.
European Journal of Endocrinology, 2018
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
Fu C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.
Hu X et al.
Molecular and Cellular Endocrinology, 2016
Thyroglobulin From Molecular and Cellular Biology to Clinical Endocrinology.
Di Jeso B et al.
Endocrine Reviews, 2016
Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.
Citterio CE et al.
Molecular and Cellular Endocrinology, 2015
A systematic review of genetic studies of thyroid disorders in Taiwan.
Huang CJ et al.
Journal of the Chinese Medical Association : Jcma, 2015
Thyroglobulin gene mutations in congenital hypothyroidism.
Targovnik HM et al.
Hormone Research in Paediatrics, 2011
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations.
Targovnik HM et al.
Molecular and Cellular Endocrinology, 2010
Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.
Niu DM et al.
The Journal of Clinical Endocrinology and Metabolism, 2009