Associated Papers
Predicting Pathogenicity of TSHR Missense Variants of Uncertain Significance: An Integrative Computational Study.
Hajali TA et al.
International Journal of Molecular Sciences, 2026
41684033 (PubMed )
Supplement: ijms-27-01614-s001.zip › ijms-4117947-supplementary.pdf
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
Functional mutations in the thyroid-stimulating hormone receptor in natural stickleback populations at sites identical to human disease-causing mutations.
Kitano J et al.
Bmc Ecology and Evolution, 2025
Investigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism.
Nadeali Z et al.
Frontiers in Endocrinology, 2025
TSHR Variant Screening and Phenotype Analysis in 367 Chinese Patients With Congenital Hypothyroidism.
Zhang HY et al.
Annals of Laboratory Medicine, 2024
Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients.
Xue P et al.
International Journal of General Medicine, 2021
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism.
Long W et al.
Endocrine Journal, 2018
Current loss-of-function mutations in the thyrotropin receptor gene: when to investigate, clinical effects, and treatment.
Cassio A et al.
Journal of Clinical Research in Pediatric Endocrinology, 2013
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
Cangul H et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism.
Cangul H et al.
Clinical Endocrinology, 2010
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