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of 3
pro vyhledávání: '"Alina German"'
Autor:
Antonio C. Bianco, Alina German, Samuel Refetoff, Xiao Hui Liao, Gustavo W. Fernandes, Monica M. França, Alexandra M. Dumitrescu
Publikováno v:
Thyroid. 31:202-207
Background: Iodothyronine deiodinase-1 (D1) selenoenzyme regulates the systemic supply of active thyroid hormone (TH). Transient decrease in D1 enzymatic activity is clinically relevant and adaptive in nonthyroidal illness such as fasting or acute il
Autor:
Hélène Cavé, Martin Zenker, Lena Sagi-Dain, Anna Munzig, Mohammad Reza Ahmadian, Alina German, Luisa Kocherscheid, Thushiha Logeswaran, Denny Schanze, Marialetizia Motta, Oliver H.F. Krumbach, Simona Coppola, Soheyla Chahrokh-Zadeh, Francesca Pantaleoni, Marco Tartaglia, Franziska Altmüller, Andreas Hahn, Amir Peleg, Saeideh Nakhaei-Rad, Christina Lissewski
Publikováno v:
Human Molecular Genetics. 29:1772-1783
The RASopathies are a group of genetic syndromes caused by upregulated RAS signaling. Noonan syndrome (NS), the most common entity among the RASopathies, is characterized mainly by short stature, cardiac anomalies and distinctive facial features. Mut
Autor:
Joseph Sack, Joachim Pohlenz, Stavit Allon-Shalev, Samuel Refetoff, Carrie Ris-Stalpers, Sunee Mamanasiri, Yardena Tenenbaum-Rakover, Alina German
Publikováno v:
Clinical endocrinology, 66(5), 695-702. Wiley-Blackwell
Summary Objectives Iodide organification defect (IOD) is characterized by a reduced ability of the thyroid gland to retain iodide and results in hypothyroidism. Mutations in the thyroid peroxidase (TPO) gene are a frequent cause of IOD. While TPO mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d20e00e7505fa818aab3148ced398e3
https://pure.amc.nl/en/publications/clinical-and-genetic-characteristics-of-congenital-hypothyroidism-due-to-mutations-in-the-thyroid-peroxidase-tpo-gene-in-israelis(b8b1ba2f-c280-499d-a92d-7f82d5c8410f).html
https://pure.amc.nl/en/publications/clinical-and-genetic-characteristics-of-congenital-hypothyroidism-due-to-mutations-in-the-thyroid-peroxidase-tpo-gene-in-israelis(b8b1ba2f-c280-499d-a92d-7f82d5c8410f).html