Associated Papers
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
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
Park KS
Genes, 2021
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.
Li L et al.
Endocrine, 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
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism.
Aycan Z et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
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
Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.
Wang F et al.
Clinical Endocrinology, 2014
Hypothyroidism-associated missense mutation impairs NADPH oxidase activity and intracellular trafficking of Duox2.
Donkó Á et al.
Free Radical Biology & Medicine, 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
A novel homozygous missense mutation of the dual oxidase 2 (DUOX2) gene in an adult patient with large goiter.
Ohye H et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.
Pfarr N et al.
Clinical Endocrinology, 2006
Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect.
Varela V et al.
Clinical Chemistry, 2006
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.
Vigone MC et al.
Human Mutation, 2005
An outline of inherited disorders of the thyroid hormone generating system.
Knobel M et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.
Moreno JC et al.
The New England Journal of Medicine, 2002