Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Simon Theisen"'
Autor:
Alina Schultze-Berndt, Jirko Kühnisch, Christopher Herbst, Franziska Seidel, Nadya Al-Wakeel-Marquard, Josephine Dartsch, Simon Theisen, Walter Knirsch, Rolf Jenni, Matthias Greutmann, Erwin Oechslin, Felix Berger, Sabine Klaassen
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Left ventricular noncompaction cardiomyopathy (LVNC CMP) is a genetic cardiomyopathy. Genotype-phenotype correlation and clinical outcome of genetic variants in pediatric and adult LVNC CMP patients are still unclear.Methods: The retrospe
Externí odkaz:
https://doaj.org/article/5fa56db283104b9f979a07dd1e6504e8
Autor:
Franziska Seidel, Kai Thorsten Laser, Karin Klingel, Josephine Dartsch, Simon Theisen, Thomas Pickardt, Manuel Holtgrewe, Anna Gärtner, Felix Berger, Dieter Beule, Hendrik Milting, Stephan Schubert, Sabine Klaassen, Jirko Kühnisch
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 9, Iss 7, p 216 (2022)
Myocarditis is an inflammatory disease of the heart. Pediatric myocarditis with the dilated cardiomyopathy (DCM) phenotype may be caused by likely pathogenic or pathogenic genetic variants [(L)P] in cardiomyopathy (CMP) genes. Systematic analysis of
Externí odkaz:
https://doaj.org/article/1a61f2ebf50f40b0b867db97c6a5e43d
Autor:
Jirko Kühnisch, Simon Theisen, Josephine Dartsch, Raphaela Fritsche-Guenther, Marieluise Kirchner, Benedikt Obermayer, Anna Bauer, Anne-Karin Kahlert, Michael Rothe, Dieter Beule, Arnd Heuser, Philipp Mertins, Jennifer A. Kirwan, Nikolaus Berndt, Calum A. MacRae, Norbert Hubner, Sabine Klaassen
BackgroundMutation of thePRDM16gene has been associated with human cardiomyopathy. The PRDM16 protein is a transcriptional regulator affecting cardiac development via Tbx5 and Hand1 regulating myocardial structure. BiallelicPrdm16inactivation induces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3434f828cec9caf396d5c3c25e624625
https://doi.org/10.1101/2023.01.10.523243
https://doi.org/10.1101/2023.01.10.523243