Associated Papers
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Chiesa AE et al.
Frontiers in Endocrinology, 2021
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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Genetics and phenomics of hypothyroidism due to TSH resistance.
Persani L et al.
Molecular and Cellular Endocrinology, 2010
Syndromes of hormone resistance in the hypothalamic-pituitary-thyroid axis.
Beck-Peccoz P et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2006
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Identification and functional analysis of novel inactivating thyrotropin receptor mutations in patients with thyrotropin resistance.
Tsunekawa K et al.
Thyroid : Official Journal of the American Thyroid Association, 2006
Thyroid development and its disorders: genetics and molecular mechanisms.
De Felice M et al.
Endocrine Reviews, 2004
An outline of inherited disorders of the thyroid hormone generating system.
Knobel M et al.
Thyroid : Official Journal of the American Thyroid Association, 2003
Resistance to thyrotropin.
Refetoff S
Journal of Endocrinological Investigation, 2003
The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population.
Jordan N et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Demonstration of reduced in vivo surface expression of activating mutant thyrotrophin receptors in thyroid sections.
Sequeira M et al.
European Journal of Endocrinology, 2002
Thyrotropin receptor mutations as a tool to understand thyrotropin receptor action.
Wonerow P et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Somatic and germline mutations of the TSH receptor and thyroid diseases.
Corvilain B et al.
Clinical Endocrinology, 2001
The TSH receptor and its role in thyroid disease.
Kopp P
Cellular and Molecular Life Sciences : Cmls, 2001
Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.
Nagashima T et al.
Thyroid : Official Journal of the American Thyroid Association, 2001
Thyrotropin receptor mutations in thyroid diseases.
Yen PM
Reviews in Endocrine & Metabolic Disorders, 2000
Structure-function relationships of two loss-of-function mutations of the thyrotropin receptor gene.
Costagliola S et al.
Thyroid : Official Journal of the American Thyroid Association, 1999
Resistance to thyrotropin (TSH) in three families is not associated with mutations in the TSH receptor or TSH.
Xie J et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Mutations of the human thyrotropin receptor gene causing thyroid hypoplasia and persistent congenital hypothyroidism.
Biebermann H et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
[Pharmacological chaperones: a potential therapeutic treatment for conformational diseases].
Mendre C et al.
Medecine Sciences : M/s, 0