Results 141 to 150 of about 305,984 (384)

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

The implementation of persuasive technology principles in mobile application development: a qualitative study [PDF]

, 2017
Preceding studies of persuasive technology have mentioned several benefits on the implementation of persuasive design features of the Persuasive System Design (PSD) model such as creating users' engagement and acceptance and continuous usage.
Shafin, Noor Afifah
core  

Mitochondrial Dysfunction in Aging and Diseases of Aging. [PDF]

, 2019
Mitochondria have been increasingly recognized as the important players in the aging process [...]
Haas, Richard H
core   +2 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Cardiomyopathy: pathogenesis and therapeutic interventions

MedComm
Cardiomyopathy is a group of disease characterized by structural and functional damage to the myocardium. The etiologies of cardiomyopathies are diverse, spanning from genetic mutations impacting fundamental myocardial functions to systemic disorders ...
Shitong Huang, Jiaxin Li, Qiuying Li, Qiuyu Wang, Xianwu Zhou, Jimei Chen, Xuanhui Chen, Abdelouahab Bellou, Jian Zhuang, Liming Lei   +9 more
doaj   +1 more source

Deep learning-enabled analysis of medical images identifies cardiac sphericity as an early marker of cardiomyopathy and related outcomes [PDF]

, 2023
Miloš Vukadinovic, Alan C. Kwan, Victoria Yuan, Michael Salerno, Daniel Lee, Christine M. Albert, Susan Cheng, Debiao Li, David Ouyang, Shoa L. Clarke   +9 more
openalex   +1 more source

Atlas of the clinical genetics of human dilated cardiomyopathy [PDF]

, 2014
[Abstract] Aim. Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts.
Amr, Ali, Arbustini, Eloisa, Barb, Ioana, Bellazzi, Riccardo, Bolognesi, Martino, Charron, Philippe, Christiaans, Imke, Crespo-Leiro, María Generosa, Deprez, Rondal H. Lekanne Dit, Ehlermann, Philipp, Eiskjaer, Hans, Elliott, Perry, Feng, Zhu, Fischer, Simon, Fradkin, Dmitriy, Franke, Jennifer, Frese, Karen S., Gadgaard, Tenna, García-Giustiniani, Diego, Grasso, Maurizia, Haas, Jan, Hassel, Sarah, Isnard, Richard, Jorgensen, Mads, Katus, Hugo A., Kayvanpour, Elham, Keller, Andreas, King, Vanessa, Kloos, Wanda, Komajda, Michel, Kremer, Andreas, Köhler, Doreen, Li, Daniel Tian, Lim, Wie-Keat, Lopes, Luis, Lorenzo Bermejo, Justo, Marquart, Sabine, Meder, Benjamin, Mereles, Derliz, Mogensen, Jens, Monserrat, Lorenzo, Mörner, Stellan, Müller, Sabine, Nietsch, Rouven, Ortiz-Genga, Martín, Peil, Barbara, Pinto, Yigal M., Plagnol, Vincent, Rijsingen, Ingrid A. van, Sedaghat-Hamedani, Farbod, Serio, Alessandra, Syrris, Petros, Villard, Eric, Vogel, Britta, Waldenstrom, Anders, Weis, Tanja, Wicks, Eleanor, Wilde, Arthur A., Wirsz, Emil, Zhao, Xiaohong   +59 more
core   +4 more sources

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Clinical genetic aspects of cardiomyopathies

Journal of the Practice of Cardiovascular Sciences, 2015
Cardiomyopathies are a major cause of heart disease. Not only the patients, but also their families are severely burdened by these illnesses. In the past decade, studies revealed the heterogeneity of these diseases in terms of clinical presentation, as ...
Mitali Kapoor, Sandeep Seth, Vadlamudi Raghavendra Rao   +2 more
doaj   +1 more source

Aging Impairs Reverse Remodeling and Recovery of Ventricular Function after Isoproterenol-Induced Cardiomyopathy [PDF]

, 2021
Laia Yáñez-Bisbe, Anna García-Elías, Marta Tajes, Isaac Almendros, Antonio Rodrı́guez-Sinovas, Javier Inserte, Marisol Ruiz‐Meana, Ramón Farré, Núria Farré, Begoña Benito   +9 more
openalex   +1 more source