Associated Papers
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
NEXMIF pathogenic variant in a female child with epilepsy and multiple organ failure: a case report.
Wang L et al.
Translational Pediatrics, 2023
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.
Li L et al.
Endocrine, 2023
The mutation screening in candidate genes related to thyroid dysgenesis by targeted next-generation sequencing panel in the Chinese congenital hypothyroidism.
Zhang RJ et al.
Clinical Endocrinology, 2022
Sequencing of a Chinese tetralogy of Fallot cohort reveals clustering mutations in myogenic heart progenitors.
Tang CSM et al.
Jci Insight, 2022
A Gly684Ala substitution in the androgen receptor is the cause for azoospermia in a Chinese family with mild androgen insensitivity syndrome and normal hormone levels.
Yuan Y et al.
Frontiers in Genetics, 2022
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects.
Sun F et al.
Clinical Genetics, 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
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
Wang H et al.
Molecular Medicine Reports, 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
Association between monoallelic TSHR mutations and congenital hypothyroidism: a statistical approach.
Abe K 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
High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.
Jiang H et al.
European Journal of Medical Genetics, 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
[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