Associated Papers
Structural insights into ligand binding and activation of the human thyrotropin-releasing hormone receptor.
Xu Y et al.
Cell Research, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome 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
Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening.
Naafs JC et al.
European Journal of Endocrinology, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Recent advances in research on isolated congenital central hypothyroidism.
Tajima T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2019
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
Peters C et al.
European Journal of Endocrinology, 2018
Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.
García M et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X.
Kleinau G et al.
Molecular Endocrinology (baltimore, Md.), 2016
A Novel Thyrotropin-Releasing Hormone Receptor Missense Mutation (P81R) in Central Congenital Hypothyroidism.
Koulouri O et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Recent advances in central congenital hypothyroidism.
Schoenmakers N et al.
The Journal of Endocrinology, 2015
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
Genetic defects in the development and function of the anterior pituitary gland.
Cushman LJ et al.
Annals of Medicine, 2002