Associated Papers
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
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
Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.
Ahn J et al.
International Journal of Molecular Sciences, 2025
Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.
Huang X et al.
Biomedical Reports, 2025
Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.
Zhang Y et al.
Frontiers in Endocrinology, 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
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
Chen T et al.
Jama Network Open, 2023
Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.
Deng Z et al.
Nature Communications, 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
Molecular genetic screening of full-term small for gestational age.
Zhang S et al.
Bmc Pediatrics, 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
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
A truncated protein product of the germline variant of the DUOX2 gene leads to adenomatous polyposis.
Yang M et al.
Cancer Biology & Medicine, 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
DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism.
Wang F et al.
Frontiers in Endocrinology, 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
GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.
Jetten AM
Cellular and Molecular Life Sciences : Cmls, 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
Mutation screening of the GLIS3 gene in a cohort of 592 Chinese patients with congenital hypothyroidism.
Fu C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism.
Fan X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.
Jiang H et al.
European Journal of Medical Genetics, 2016
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
Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.
Fu C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
[Genetic analysis for 5 congenital hypothyroidism patients due to dyshormonogenesis].
Fu CY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2016
Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
Fu C et al.
Bmj Open, 2016
Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.
Fu C et al.
Journal of Endocrinological Investigation, 2015
[DUOX2 mutations in children with congenital hypothyroidism].
Chai J et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
[DUOX2 gene mutation in patients with congenital goiter with hypothyroidism].
Lü ZP et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011