Human induced pluripotent stem-cell-derived cardiomyocytes as models for genetic cardiomyopathies
A Brodehl, H Ebbinghaus, MA Deutsch… - International journal of …, 2019 - mdpi.com
In the last few decades, many pathogenic or likely pathogenic genetic mutations in over
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …
hundred different genes have been described for non-ischemic, genetic cardiomyopathies …
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in
Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated with high …
Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated with high …
Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome
AB Meier, SR Murthi, H Rawat, CN Toepfer… - Iscience, 2022 - cell.com
Childhood-onset myocardial hypertrophy and cardiomyopathic changes are associated with
significant morbidity and mortality in early life, particularly in patients with Noonan syndrome …
significant morbidity and mortality in early life, particularly in patients with Noonan syndrome …
Pleiotropic role of the myocytic cell cycle in congenital heart disease
H Rawat - 2022 - mediatum.ub.tum.de
Congenital heart diseases (CHDs), which affect the structure and function of the heart or
great vessels, are the most common type of birth defect and the leading cause of pediatric …
great vessels, are the most common type of birth defect and the leading cause of pediatric …
Advanced hiPSC-based platforms for in vitro modeling of cardiac development, disease, and therapy
AB Meier - 2022 - mediatum.ub.tum.de
Human induced pluripotent stem cells (hiPSCs) have emerged as powerful tools for disease
modeling and drug discovery. In this work, we established a novel hiPSC-derived 3D …
modeling and drug discovery. In this work, we established a novel hiPSC-derived 3D …
Síndrome de Noonan: actualización del tema a propósito de una observación familiar
IL Gallán Farina, JI Labarta Aizpún - zaguan.unizar.es
El síndrome de Noonan (SN) es un trastorno genético del desarrollo, con gran variabilidad
clínica y etiológica, que afecta a 1 de cada 1000-2500 nacidos vivos. Se caracteriza por …
clínica y etiológica, que afecta a 1 de cada 1000-2500 nacidos vivos. Se caracteriza por …
[PDF][PDF] TRABAJO DE FIN DE GRADO
ILG Farina, JIL Aizpún - zaguan.unizar.es
El síndrome de Noonan (SN; Mendelian Inheritance in Man reference 163950) fue descrito
por la cardióloga pediátrica Jacqueline Anne Noonan en 1968 [1], basándose en la …
por la cardióloga pediátrica Jacqueline Anne Noonan en 1968 [1], basándose en la …