Associated Papers
Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline.
Kurnaz E et al.
Hormone Research in Paediatrics, 2026
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
Newborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.
Ye L et al.
International Journal of Neonatal Screening, 2024
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Baz-Redón N et al.
International Journal of Molecular Sciences, 2024
Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.
Tsai CC et al.
The Kaohsiung Journal of Medical Sciences, 2024
TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.
Zhang HY et al.
Annals of Laboratory Medicine, 2024
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.
Uehara E et al.
Thyroid : Official Journal of the American Thyroid Association, 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
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
Zhang CR et al.
Journal of Clinical Research in Pediatric Endocrinology, 2022
A genomic mutation spectrum of collecting duct carcinoma in the Chinese population.
Zhang H et al.
Bmc Medical Genomics, 2022
Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.
Yang Y et al.
The Application of Clinical Genetics, 2022
A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation.
Tanase-Nakao K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.
Sun F et al.
Clinical Genetics, 2021
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.
Li L et al.
Endocrine, 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
Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.
Long W et al.
Frontiers in Endocrinology, 2021
Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.
Zheng Z et al.
Annals of Translational Medicine, 2020
DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.
Sorapipatcharoen K et al.
Endocrine Connections, 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 family with hypothyroidism caused by fatty acid synthase and apolipoprotein B receptor mutations.
Sun J et al.
Molecular Medicine Reports, 2018
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F et al.
European Journal of Endocrinology, 2018
Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.
Chen X et al.
International Journal of Endocrinology, 2018
Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population.
Yu B et al.
Frontiers in Genetics, 2018
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
Kang E et al.
Molecular Medicine (cambridge, Mass.), 2017
Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.
Zheng X et al.
Yonsei Medical Journal, 2017
DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
Srichomkwun P et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.
Nicholas AK et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.
Zheng X et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.
Maruo Y et al.
European Journal of Endocrinology, 2016
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.
Park KJ et al.
Annals of Laboratory Medicine, 2016
Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism.
Yang LX et al.
Clinical Laboratory, 2016
Hypothyroidism-associated missense mutation impairs NADPH oxidase activity and intracellular trafficking of Duox2.
Donkó Á et al.
Free Radical Biology & Medicine, 2014
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.
Jin HY et al.
Hormone Research in Paediatrics, 2014
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H et al.
Current Opinion in Pediatrics, 2011
DUOXS defects: Genotype-phenotype correlations.
Fugazzola L et al.
Annales D'endocrinologie, 2011
Defects of thyroidal hydrogen peroxide generation in congenital hypothyroidism.
Grasberger H
Molecular and Cellular Endocrinology, 2010
Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism.
Hoste C et al.
Human Mutation, 2010
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
Maruo Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2008