Results 11 to 20 of about 46,771 (265)

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

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, Emilie Landais, Céline Poirsier, Alexandra Afenjar, Ahmad Akhavi, Nathalie Bednarek, Caroline Bénech, Adeline Bonnard, Damien Bosquet, Lydie Burglen, Patrick Callier, Sandra Chantot‐Bastaraud, Christine Coubes, Charles Coutton, Bruno Delobel, Margaux Descharmes, Jean‐Michel Dupont, Vincent Gatinois, Nicolas Gruchy, Sarah Guterman, Abdelkader Heddar, Lucas Herissant, Delphine Heron, Bertrand Isidor, Pauline Jaeger, Guillaume Jouret, Boris Keren, Paul Kuentz, Cedric Le Caignec, Jonathan Levy, Nathalie Lopez, Zoe Manssens, Dominique Martin‐Coignard, Isabelle Marey, Cyril Mignot, Chantal Missirian, Céline Pebrel‐Richard, Lucile Pinson, Jacques Puechberty, Sylvia Redon, Damien Sanlaville, Marta Spodenkiewicz, Anne‐Claude Tabet, Alain Verloes, Gaelle Vieville, Catherine Yardin, François Vialard, Martine Doco‐Fenzy   +47 more
wiley   +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, Yoko Aoki, Bruce D. Gelb   +2 more
wiley   +1 more source

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

First-in-man application of Liwen RF™ ablation system in the treatment of drug-resistant hypertrophic obstructive cardiomyopathy

Frontiers in Cardiovascular Medicine, 2022
ObjectivesThis study sought to evaluate the clinical applicability of the Liwen Liu RF™ ablation system for percutaneous intramyocardial septal radiofrequency ablation (PIMSRA).BackgroundData on new cardiac radiofrequency ablation devices for the ...
Zihao Wang, Rong Zhao, Horst Sievert, Shengjun Ta, Jing Li, Stefan Bertog, Stefan Bertog, Kerstin Piayda, Mengyao Zhou, Changhui Lei, Xiaojuan Li, Jiani Liu, Bo Xu, Bo Feng, Rui Hu, Liwen Liu   +15 more
doaj   +1 more source

Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

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, Dante J. Rogers, Samuel J. Kroening, Abigail L. Zatkalik, Ashley E. Whitmarsh, Amy E. Roberts, Martin Zenker, Maria Luigia Gambardella, Ilaria Contaldo, Chiara Leoni, Roberta Onesimo, Giuseppe Zampino, Marco Tartaglia, Domenica I. Battaglia, Elizabeth I. Pierpont   +14 more
wiley   +1 more source

High-Throughput Precision Phenotyping of Left Ventricular Hypertrophy with Cardiovascular Deep Learning [PDF]

, 2021
Left ventricular hypertrophy (LVH) results from chronic remodeling caused by a broad range of systemic and cardiovascular disease including hypertension, aortic stenosis, hypertrophic cardiomyopathy, and cardiac amyloidosis. Early detection and characterization of LVH can significantly impact patient care but is limited by under-recognition of ...
arxiv   +1 more source

Hypertrophic Cardiomyopathy

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2022
Hypertrophic cardiomyopathy (HCM) is a primary disease affecting the cardiac muscle and is characterized by heterogeneous genetic, morphological, functional and clinical features. The clinical presentation of HCM varies widely. Patients may be completely asymptomatic and identified incidentally.
Sarita Gore, Sunil Yogiraj Swami
openaire   +2 more sources

Prognostic value of global longitudinal strain in hypertrophic cardiomyopathy: A systematic review and meta‐analysis

Clinical Cardiology, Volume 45, Issue 12, Page 1184-1191, December 2022., 2022
Abstract Background As previously reported, impairment of left ventricular global longitudinal strain (LVGLS) is associated with myocardial fibrosis, arrhythmias, and heart failure in hypertrophic cardiomyopathy (HCM) patients. Hypothesis This study aimed to estimate the association between LVGLS measured by echocardiography and major adverse ...
Ying Yang, Dong Wu, Hui Wang, Yanting Wang   +3 more
wiley   +1 more source

Clinical Outcomes in Patients With Nonobstructive, Labile, and Obstructive Hypertrophic Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
BackgroundHypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease characterized by varying degrees of left ventricular outflow tract obstruction. In a large cohort, we compare the outcomes among 3 different hemodynamic groups. Methods and
Dai‐Yin Lu, Iraklis Pozios, Bereketeab Haileselassie, Ioannis Ventoulis, Hongyun Liu, Lars L. Sorensen, Marco Canepa, Susan Phillip, M. Roselle Abraham, Theodore P. Abraham   +9 more
doaj   +1 more source

Hospital Procedural Volume and Clinical Outcomes Following Septal Reduction Therapy in Obstructive Hypertrophic Cardiomyopathy

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Background Prior national data showed a substantial in‐hospital mortality in septal myectomy (SM) with an inverse volume–outcomes relationship. This study sought to assess the contemporary outcomes of septal reduction therapy and volume–outcome ...
Ahmed M. Altibi, Fares Ghanem, Yuanzi Zhao, Miriam Elman, Joaquin Cigarroa, Babak Nazer, Howard K. Song, Ahmad Masri   +7 more
doaj   +1 more source