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Akademický článek

TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review

Autor: Leman Kayaş, Emine Çamtosun, Ayşehan Akıncı, Rıfat Bircan

Publikováno v: JCRPE, Vol 14, Iss 1, Pp 114-118 (2022)

An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. H

Externí odkaz: https://doaj.org/article/65619797278b47969b2bed592f1d8a9e

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Akademický článek

Familial non-autoimmune hyperthyroidism in family members across four generations due to a novel disease-causing variant in the thyrotropin receptor gene

Autor: Malej A, Avbelj Stefanija M, Bratanič N, Trebušak Podkrajšek K

Publikováno v: Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 87-92 (2021)

Activating disease-causing variants in the thyrotropin-receptor (TSHR) gene are associated with familial or sporadic congenital non-autoimmune hyperthyroidism. Familial non-autoimmune hyperthyroidism (FNAH) is a rare form of hyperthyroidism with 41 f

Externí odkaz: https://doaj.org/article/d104b5f966194538a010e8031ce5642e

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Akademický článek

An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial non-autoimmune hyperthyroidism

Autor: Jung Hyun Shin, Go Hun Seo, Seung Hwan Oh, Woo Yeong Chung, Hye Young Kim, Young Mi Kim, Mi Hye Bae, Kyung Hee Park, Min Jung Kwak

Publikováno v: Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 4, Pp 282-286 (2020)

Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of non-autoimmune hyperthyro

Externí odkaz: https://doaj.org/article/b1fcb85478f148aa884ca32f0483f6ec

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Akademický článek

Determining specific thyroid transcripts in peripheral blood: A single center study experience

Autor: Makazlieva T, Eftimov A, Vaskova O, Tripunoski T, Miladinova D, Risteski S, Jovanovic H, Jakovski Z

Publikováno v: Balkan Journal of Medical Genetics, Vol 21, Iss 2, Pp 13-20 (2018)

Thyroid carcinoma (TC) comprises a spectrum of different tumors with a wide range of biological behavior and prognosis. The techniques based on the latest trends in molecular biology may have application in diagnosis of metastatic TC. The aim of this

Externí odkaz: https://doaj.org/article/367b67b2bb63438f897b613602de1878

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Akademický článek

Analysis of chosen polymorphisms rs2476601 a/G – PTPN22, rs1990760 C/T – IFIH1, rs179247 a/G – TSHR in pathogenesis of autoimmune thyroid diseases in children

Autor: Marta Rydzewska, Aleksandra Góralczyk, Joanna Gościk, Natalia Wawrusiewicz-Kurylonek, Anna Bossowska, Adam Krętowski, Artur Bossowski

Publikováno v: Autoimmunity, Vol 51, Iss 4, Pp 183-190 (2018)

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon-induced helicase doma

Externí odkaz: https://doaj.org/article/e325521aecbc45c0a75c6420ea7c1a21

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Akademický článek

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TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review

Autor: Emine Çamtosun, Ayşehan Akıncı, Leman Kayaş, Rifat Bircan

Publikováno v: Journal of Clinical Research in Pediatric Endocrinology. 14:114-118

Activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant (AD) inheritance or sporadically through de novo variants.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed812d08d0b0f1fe69b25269e9b9c59a
https://doi.org/10.4274/jcrpe.galenos.2020.2020.0229

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Familial non-autoimmune hyperthyroidism in family members across four generations due to a novel disease-causing variant in the thyrotropin receptor gene

Autor: M Avbelj Stefanija, A Malej, N Bratanič, K Trebušak Podkrajšek

Publikováno v: Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 87-92 (2021)
Balkan Journal of Medical Genetics : BJMG

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe33c12c5651cbe402fb64668fd2b28c
https://doaj.org/article/d104b5f966194538a010e8031ce5642e

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Akademický článek

The Role of Cytotoxic T-lymphocyte-associated Protein 4 (CTLA-4) Gene, Thyroid Stimulating Hormone Receptor (TSHR) Gene and Regulatory T-cells as Risk Factors for Relapse in Patients with Graves Disease

Autor: Fatimah Eliana, Pradana Suwondo, Asmarinah Asmarinah, Alida Harahap, Samsuridjal Djauzi, Joedo Prihartono, Tjokorda Gde Dalem Pemayun

Publikováno v: Acta Medica Indonesiana, Vol 49, Iss 3 (2017)

Background: graves’ disease (GD) is the most common condition of thyrotoxicosis. The management of GD is initiated with the administration of antithyroid drugs; however, it requires a long time to achieve remission. In reality more than 50% of pati

Externí odkaz: https://doaj.org/article/518e8f9bd9414572bfa301d677e9398f

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Akademický článek

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