Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?

Autor: Kitsiou-Tzeli, S. Papadopoulou, A. Kanaka-Gantenbein, C. Fretzayas, A. Daskalopoulos, D. Kanavakis, E. Nicolaidou, P.

Background: Noonan syndrome (NS) (OMIM 163950) is an autosomal dominant developmental disorder characterized mainly by typical facial dysmorphism, growth retardation and variable congenital heart defects. In unrelated individuals with sporadic or fam

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::c47aee21fb924c52f1ae5eb1ffb65fab
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3095723

Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?

Autor: Kitsiou-Tzeli S; Department of Medical Genetics, University of Athens, Aghia Sophia Children's Hospital, Thivon & Levadias, Goudi, Athens, Greece. skitsiou@uoa.med.gr, Papadopoulou A, Kanaka-Gantenbein C, Fretzayas A, Daskalopoulos D, Kanavakis E, Nicolaidou P

Publikováno v: Hormone research [Horm Res] 2006; Vol. 66 (3), pp. 124-31. Date of Electronic Publication: 2006 Jun 23.

Maintenance of Cardiac Microenvironmental Homeostasis: A Joint Battle of Multiple Cells.

Autor: Yao J; School of Life Science and Technology, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, China., Zhang Y; School of Life Science and Technology, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, China., Wang Z; School of Life Science and Technology, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, China., Chen Y; School of Life Science and Technology, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, China., Shi X; School of Life Science and Technology, Key Laboratory of Developmental Genes and Human Disease, Southeast University, Nanjing, China.

Publikováno v: Journal of cellular physiology [J Cell Physiol] 2024 Dec 04. Date of Electronic Publication: 2024 Dec 04.

Societal foundations of governmental preference formation in the Eurozone crisis.

Autor: Schirm, Stefan A.¹ (AUTHOR) stefan.schirm@rub.de

Publikováno v: European Politics & Society. Feb2018, Vol. 19 Issue 1, p63-78. 16p. 2 Charts.

Differential contributions of cardiac, coronary and pulmonary artery vagal mechanoreceptors to reflex control of the circulation.

Autor: Moore, Jonathan P., Simpson, Lydia L., Drinkhill, Mark J.

Publikováno v: Journal of Physiology; Sep2022, Vol. 600 Issue 18, p4069-4087, 19p