Associated Papers
Congenital Hypothyroidism with Thyroid in situ: A Case Report with NKX2-1 and DUOX2 Hypomorphic Variants.
Uehara E et al.
Hormone Research in Paediatrics, 2025
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
A genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans.
Moksnes MR et al.
Communications Biology, 2024
Concurrent THRB and DUOX2 variants in a patient detected via newborn screening for congenital hypothyroidism: a case of resistance to thyroid hormone.
Hatano M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C et al.
Thyroid : Official Journal of the American Thyroid Association, 2023
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
Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing.
Watanabe D et al.
Endocrine Journal, 2021
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.
Li L et al.
Endocrine, 2021
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.
Bell S et al.
Communications Biology, 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
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE et al.
Frontiers in Endocrinology, 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
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
DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom.
Peters C et al.
Thyroid : Official Journal of the American Thyroid Association, 2019
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
Abe K et al.
European Journal of Endocrinology, 2018
Genetic and functional analysis of two missense DUOX2 mutations in congenital hypothyroidism and goiter.
Liu S et al.
Oncotarget, 2018
Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.
Chen X et al.
International Journal of Endocrinology, 2018
DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland.
Kizys MML et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
Srichomkwun P et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou.
Tan M et al.
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme, 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
Pseudodominant inheritance in a family with nonautoimmune hypothyroidism due to biallelic DUOX2 mutations.
Abe K et al.
Clinical Endocrinology, 2015
Hypothyroidism-associated missense mutation impairs NADPH oxidase activity and intracellular trafficking of Duox2.
Donkó Á et al.
Free Radical Biology & Medicine, 2014
The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.
Muzza M et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess.
Kasahara T et al.
American Journal of Medical Genetics. Part A, 2013
Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.
Narumi S et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
Grasberger H et al.
Current Opinion in Pediatrics, 2011
Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism.
De Marco G et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.
Zhang G et al.
Human Genomics, 2011
DUOXS defects: Genotype-phenotype correlations.
Fugazzola L et al.
Annales D'endocrinologie, 2011
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Zhang G et al.
Human Mutation, 2010
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.
Neves SC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 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