Associated Papers
New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.
Spirito G et al.
Npj Genomic Medicine, 2026
Clinical and Genetic Characteristics of Adult Nonautoimmune Hypothyroidism: A Single-institution Study.
Sugisawa C et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.
Su Y et al.
International Journal of Neonatal Screening, 2025
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 2025
Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.
Ahn J et al.
International Journal of Molecular Sciences, 2025
Genotype-Phenotype Correlations in 30 Japanese Patients With Congenital Hypothyroidism Attributable to TG Defects.
Tanase-Nakao K et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ.
Park J et al.
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
Adult Thyroid Outcomes of Congenital Hypothyroidism.
Sugisawa C et al.
Thyroid : Official Journal of the American Thyroid Association, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing.
Watanabe D et al.
Endocrine Journal, 2021
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.
Sun F et al.
Clinical Genetics, 2021
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
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
Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.
Zheng Z et al.
Annals of Translational Medicine, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening.
Yamaguchi T et al.
The Journal of Clinical Endocrinology and 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
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
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
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
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.
Srichomkwun P et al.
Thyroid : Official Journal of the American Thyroid Association, 2017
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 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
High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.
Jin HY et al.
Hormone Research in Paediatrics, 2014
Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene.
Yoshizawa-Ogasawara A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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