Associated Papers
Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline.
Kurnaz E et al.
Hormone Research in Paediatrics, 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
Functional Characterization of Thyroid Peroxidase Missense Variants Causing Thyroid Dyshormonogenesis in Asian Indian Population.
Dalal A et al.
Hormone Research in Paediatrics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Long-Term Outcome of Patients with TPO Mutations.
Tobias L et al.
Journal of Clinical Medicine, 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
High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism.
Almagor T et al.
European Thyroid Journal, 2021
Novel homozygous variant in the TPO gene associated with congenital hypothyroidism and mild-intellectual disability.
Khan A et al.
Human Genome Variation, 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
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I et al.
American Journal of Human Genetics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A Homozygous Nonsense Thyroid Peroxidase Mutation (R540X) Consistently Causes Congenital Hypothyroidism in Two Siblings Born to a Consanguineous Family.
Cangül H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2015
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
Bougacha-Elleuch N et al.
European Journal of Pediatrics, 2015
Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.
Cangul H et al.
Clinical Endocrinology, 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
The coexistence of a novel inactivating mutant thyrotropin receptor allele with two thyroid peroxidase mutations: a genotype-phenotype correlation.
Sriphrapradang C et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Genetics and phenomics of hypothyroidism and goiter due to TPO mutations.
Ris-Stalpers C et al.
Molecular and Cellular Endocrinology, 2010
Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.
Ozbek MN et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
Clinical and genetic characteristics of congenital hypothyroidism due to mutations in the thyroid peroxidase (TPO) gene in Israelis.
Tenenbaum-Rakover Y et al.
Clinical Endocrinology, 2007