Two Autonomous Nodules of a Patient with Multinodular Goiter Harbor Different Activating Mutations of the Thyrotropin Receptor Gene¹

Activating Mutations of the Stimulatory G Protein in the McCune–Albright Syndrome

Lee S. Weinstein, Andrew Shenker, Pablo V. Gejman et al. · New England Journal of Medicine · 1991 · 1.7K citations

Somatic mutations in the thyrotropin receptor gene cause hyperfunctioning thyroid adenomas

Jasmine Parma, Laurence Duprez, Jacqueline Van Sande et al. · Nature · 1993 · 921 citations

Somatic Variant, Somatic Mutations, Genetics +6

Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism

Laurence Duprez, Jasmine Parma, Jacqueline Van Sande et al. · Nature Genetics · 1994 · 381 citations

Autoimmune Disease, Genetics, Thyroid Disease +8

High incidence of multinodular toxic goitre in the elderly population in a low iodine intake area vs. high incidence of Graves' disease in the young in a high iodine intake area: comparative surveys of thyrotoxicosis epidemiology in East‐Jutland Denmark and Iceland

Peter Laurberg, Klaus M. Pedersen, Henrik Vestergaard · Journal of Internal Medicine · 1991 · 363 citations

A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.

Nicolás de Roux, Michel Polak, Jacques Couët et al. · The Journal of Clinical Endocrinology & Metabolism · 1996 · 152 citations · Full text

Neonatal Hyperthyroidism, Signal Transduction, Autoimmune Disease +15