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
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.
Bassett JH et al.
Endocrine Reviews, 2016
Severe congenital non-autoimmune hyperthyroidism associated to a mutation in the extracellular domain of thyrotropin receptor gene.
Scaglia PA et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations.
Hébrant A et al.
European Journal of Endocrinology, 2011
Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism.
Gozu HI et al.
Molecular and Cellular Endocrinology, 2010
Thyroid gene expression in familial nonautoimmune hyperthyroidism shows common characteristics with hyperfunctioning autonomous adenomas.
Hébrant A et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Cases of borderline in vitro constitutive thyrotropin receptor activity: how to decide whether a thyrotropin receptor mutation is constitutively active or not?
Mueller S et al.
Thyroid : Official Journal of the American Thyroid Association, 2009
Molecular and structural effects of inverse agonistic mutations on signaling of the thyrotropin receptor--a basally active GPCR.
Kleinau G et al.
Cellular and Molecular Life Sciences : Cmls, 2008
A new silent germline mutation of the TSH receptor: coexpression in a hyperthyroid family member with a second activating somatic mutation.
Gozu HI et al.
Thyroid : Official Journal of the American Thyroid Association, 2008
Congenital neonatal hyperthyroidism caused by germline mutations in the TSH receptor gene.
Chester J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis.
Dias da Silva MR et al.
Clinical Endocrinology, 2002
Alterations of neonatal thyroid function.
Grüters A et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1999
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
Grüters A et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Autosomal dominant nonautoimmune hyperthyroidism. Clinical features-diagnosis-therapy.
Führer D et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 1998