Results 31 to 40 of about 118,306 (318)
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 445-458, February 2023., 2023 Abstract Chromosome 1p36 deletion syndrome (1p36DS) is one of the most common terminal deletion syndromes (incidence between 1/5000 and 1/10,000 live births in the American population), due to a heterozygous deletion of part of the short arm of chromosome 1.
Clémence Jacquin +47 more
wiley +1 more source
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
A very rare cause of pre‐capillary pulmonary hypertension: The PAMI syndrome
Pulmonary Circulation, 2023 We report the first known case of PAMI syndrome associated with pulmonary arterial hypertension (PAH) with a positive response to cyclophosphamide and pulmonary vasodilators. The patient's history began at 7 months with severe pancytopenia and fever.
Manuela Iseppi +5 more
doaj +1 more source
Journal of the American College of Cardiology, 2010 Cirrhotic cardiomyopathy is a clinical syndrome in patients with liver cirrhosis characterized by an abnormal and blunted response to physiologic, pathologic, or pharmacologic stress but normal to increased cardiac output and contractility at rest. As many as 50% of cirrhotic patients undergoing liver transplantation show signs of cardiac dysfunction ...
Enrico M, Zardi +8 more
openaire +4 more sources
Overview of Cardiomyopathies in Childhood
Frontiers in Pediatrics, 2021 Paediatric cardiomyopathies are a heterogenous group of rare disorders, characterised by mechanical and electrical abnormalities of the heart muscle. The overall annual incidence of childhood cardiomyopathies is estimated at about 1 per 100,000 children ...
Anika Rath +3 more
doaj +1 more source
The molecular genetics of RASopathies: An update on novel disease genes and new disorders
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 425-439, December 2022., 2022 Abstract Enhanced signaling through RAS and the mitogen‐associated protein kinase (MAPK) cascade underlies the RASopathies, a family of clinically related disorders affecting development and growth. In RASopathies, increased RAS‐MAPK signaling can result from the upregulated activity of various RAS GTPases, enhanced function of proteins positively ...
Marco Tartaglia +2 more
wiley +1 more source
Targeting ferroptosis as a promising therapeutic strategy to treat cardiomyopathy
Frontiers in Pharmacology, 2023 Cardiomyopathies are a clinically heterogeneous group of cardiac diseases characterized by heart muscle damage, resulting in myocardium disorders, diminished cardiac function, heart failure, and even sudden cardiac death.
Huiyan Sun +6 more
doaj +1 more source
Cardiomyopathies in the elderly [PDF]
Journal of the American College of Cardiology, 1987 Cardiomyopathies in the elderly have certain characteristic features. The dilated form appears to be less common than in younger patients. Hypertrophic cardiomyopathy is more often associated with severe and concentric hypertrophy. The prognosis of hypertrophic cardiomyopathy seems to be better in the elderly, because they appear to have a lower ...
Walter H. Abelmann +2 more
openaire +2 more sources
Clinical overview on RASopathies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 414-424, December 2022., 2022 Abstract RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS‐MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway.
Martin Zenker
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 190, Issue 4, Page 501-509, December 2022., 2022 Abstract Gene variants that dysregulate signaling through the RAS‐MAPK pathway cause cardiofaciocutaneous syndrome (CFCS), a rare multi‐system disorder. Infantile epileptic spasms syndrome (IESS) and other forms of epilepsy are among the most serious complications.
Daniel L. Kenney‐Jung +14 more
wiley +1 more source