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Toplam kayıt 17, listelenen: 11-17
Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population?
(Funpec-Editora, 2016)
The D727E germline polymorphism in the thyroid-stimulating hormone receptor gene (TSHR) may cause genetic susceptibility to the development of goiter. Therefore, in this study we investigated allele frequencies and genotype ...
Recurrent EZH1 mutations are a second hit in autonomous thyroid adenomas
(Amer Soc Clinical Investigation Inc, 2016)
Autonomous thyroid adenomas (ATAs) are a frequent cause of hyperthyroidism. Mutations in the genes encoding the TSH receptor (TSHR) or the Gs protein alpha subunit (GNAS) are found in approximately 70% of ATAs. The involvement ...
Cases of Borderline in Vitro Constitutive Thyrotropin Receptor Activity: How to Decide Whether a Thyrotropin Receptor Mutation Is Constitutively Active or Not?
(Mary Ann Liebert, Inc, 2009)
Background: Previous in vitro data for several constitutively activating thyrotropin receptor (TSHR) mutations reported divergent results for the constitutive activity of the same mutations. Moreover, several case reports ...
9 Years Follow-up of a Patient with Pituitary Form of Resistance to Thyroid Hormones (PRTH): Comparison of Two Treatment Periods of D-Thyroxine and Triiodothyroacetic Acid (TRIAC)
(Walter De Gruyter Gmbh, 2009)
Patients with pituitary resistance to thyroid hormones (PRTH) exhibit features of hyperthyroidism due to normal sensitivity to thyroid hormones in some of the peripheral tissues. There is a lack of information in the ...
Alopecia: Association with Resistance to Thyroid Hormones
(Freund Publishing House Ltd, 2009)
Resistance to thyroid hormone (RTH) syndrome is caused by thyroid hormone beta receptor (TR beta) mutations. Goiter, learning disabilities, psychological abnormalities, sinus tachycardia, hearing deficits, short stature, ...
Angiotensin Converting Enzyme Gene Polymorphism in Turkish Asthmatic Patients
(Taylor & Francis Inc, 2009)
Asthma is a chronic inflammatory disease of the airways. Several candidate genes have been identified with a potential role in the pathogenesis of asthma, including the angiotensin converting enzyme (ACE) gene. We aimed ...
MTHFR, prothrombin and Factor V gene variants in Turkish patients with coronary artery stenosis
(Soc Brasil Genetica, 2008)
Many epidemiological studies have reported an association between hemostatic factors and risk of both coronary and peripheral artery diseases. Using polymerase chain reaction and restriction fragment length polymorphism ...