Associated Papers
Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.
Zhang Z et al.
Diagnostics (basel, Switzerland), 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
Screening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism.
Xu S et al.
Clinical Genetics, 2025
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Genetic Screening and Functional Analysis of Thyroid Peroxidase Variants in Chinese Patients with Congenital Hypothyroidism.
Zhang HY et al.
Hormone Research in Paediatrics, 2024
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
Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing.
Watanabe D et al.
Endocrine Journal, 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
Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism.
Wang H et al.
Frontiers in Endocrinology, 2021
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
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Sun F et al.
European Journal of Endocrinology, 2018
Disorders of H2O2 generation.
Muzza M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2.
Yoshizawa-Ogasawara A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis.
Lee CC et al.
Bmj Open, 2015
Novel genetic variants in the TPO gene cause congenital hypothyroidism.
Ma SG et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2015
Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
Lee ST et al.
Clinical Endocrinology, 2011
Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening.
Satoh M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2009
Congenital primary hypothyroidism with subsequent adenomatous goiter in a Turkish patient caused by a homozygous 10-bp deletion in the thyroid peroxidase (TPO) gene.
Pfarr N et al.
Clinical Endocrinology, 2006