Associated Papers
Molecular and clinical characteristics of pediatric patients with primary congenital hypothyroidism: novel genetic variants and the genotype-phenotype association.
Zhang CC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.
Huang X et al.
Biomedical Reports, 2025
Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.
Tsai CC et al.
The Kaohsiung Journal of Medical Sciences, 2024
Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.
Zhang HY et al.
Hormone Research in Paediatrics, 2024
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.
Zhou D et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China.
Zhang T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients.
Liu R et al.
Journal of Clinical Medicine, 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
Graves' disease: introducing new genetic and epigenetic contributors.
Razmara E et al.
Journal of Molecular Endocrinology, 2021
Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population.
Huang M et al.
Frontiers in Endocrinology, 2021
Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.
Wang H et al.
Frontiers in Endocrinology, 2021
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
Wang H et al.
Molecular Medicine Reports, 2020
Mild TPO deficiency characterized by progressive goiter and normal serum TSH level.
Zhang J et al.
Endocrine, 2020
Persistent goiter with congenital hypothyroidism due to mutation in DUOXA2 gene.
Jung SY et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
A Novel Homozygous Mutation of Thyroid Peroxidase Gene Abolishes a Disulfide Bond Leading to Congenital Hypothyroidism.
Yakou F et al.
International Journal of Endocrinology, 2020
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F et al.
European Journal of Endocrinology, 2018
A Novel Mutation in Thyroid Peroxidase Gene Causing Congenital Goitrous Hypothyroidism in a German-Thai Patient.
Sriphrapradang C et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
A systematic review of genetic studies of thyroid disorders in Taiwan.
Huang CJ et al.
Journal of the Chinese Medical Association : Jcma, 2015
Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis.
Lee CC et al.
Bmj Open, 2015
Novel genetic variants in the TPO gene cause congenital hypothyroidism.
Ma SG et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2015
TPO gene mutations associated with thyroid carcinoma: Case report and literature review.
Zhu H et al.
Cancer Biomarkers : Section a of Disease Markers, 2015
Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism.
Lee CC et al.
Biomed Research International, 2014
Mutations of the thyroid peroxidase gene in Chinese siblings with congenital goitrous hypothyroidism.
Ma SG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
Thyroid peroxidase gene mutation in patients with congenital hypothyroidism in isfahan, iran.
Hashemipour M et al.
International Journal of Endocrinology, 2012
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H et al.
Current Opinion in Pediatrics, 2011
[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
Li HF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Two compound heterozygous mutations (c.215delA/c.2422T-->C and c.387delC/c.1159G-->A) in the thyroid peroxidase gene responsible for congenital goitre and iodide organification defect.
Rivolta CM et al.
Clinical Endocrinology, 2007
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
Tenenbaum-Rakover Y et al.
Clinical Endocrinology, 2007
Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.
Rodrigues C et al.
European Journal of Endocrinology, 2005
Contribution of genetic factors to neonatal transient hypothyroidism.
Niu DM et al.
Archives of Disease in Childhood. Fetal and Neonatal Edition, 2005
High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect.
Niu DM et al.
The Journal of Clinical Endocrinology and Metabolism, 2002