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Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player

Genes, 2016
Congenital heart defects (CHDs) represent the biggest fraction of morbid congenital anomalies worldwide. Owing to their complex inheritance patterns and multifactorial etiologies, these defects are difficult to identify before complete manifestation ...
I. Chung, G. Rajakumar
semanticscholar   +1 more source

Ventricular Function in Congenital Heart Defects [PDF]

Frontiers in Pediatrics, 2016
In order to understand the physiology of the neonatal heart, one must have an understanding of both the fetal circulation and the cardiac function of the adult heart. Transitional changes occur in the neonatal period, where the function of one ventricle has important effects on the function of the contralateral ventricle (1).
openaire   +3 more sources

Large Language Model‐Based Chatbots in Higher Education

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
The use of large language models (LLMs) in higher education can facilitate personalized learning experiences, advance asynchronized learning, and support instructors, students, and researchers across diverse fields. The development of regulations and guidelines that address ethical and legal issues is essential to ensure safe and responsible adaptation
Defne Yigci, Merve Eryilmaz, Ail K. Yetisen, Savas Tasoglu, Aydogan Ozcan   +4 more
wiley   +1 more source

Single-cell analysis of cardiogenesis reveals basis for organ-level developmental defects. [PDF]

, 2019
Organogenesis involves integration of diverse cell types; dysregulation of cell-type-specific gene networks results in birth defects, which affect 5% of live births.
de Soysa, T Yvanka, Del Sol, Antonio, Gifford, Casey A, Huang, Yu, Okawa, Satoshi, Ranade, Sanjeev S, Ravichandran, Srikanth, Salunga, Hazel T, Schricker, Amelia, Srivastava, Deepak   +9 more
core  

Evidence for uteroplacental malperfusion in fetuses with major congenital heart defects. [PDF]

, 2020
AIMS: Fetuses affected by congenital heart defects (CHD) are considered to be at increased risk of fetal growth restriction and intrauterine demise.
Binder, J, Carta, S, Carvalho, JS, Kalafat, E, Khalil, A, Thilaganathan, B   +5 more
core   +2 more sources

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

SYNTROPY OF UNCLASSIFIED COMPLEXES OF MULTIPLE CONGENITAL MALFORMATIONS [PDF]

, 2014
Statistical analysis of unclassified complexes multiple of congenital malformations was performed . Frequency of the most frequent combination of defects consisting of multiple congenital malformations was determined , syntropy index was defined ...
Andriichuk, D., Boychuk, T.M., Lastivka, I., Sorokman, T.V.   +3 more
core  

Ethnic and socioeconomic variation in incidence of congenital heart defects

Archives of Disease in Childhood, 2016
Introduction Ethnic differences in the birth prevalence of congenital heart defects (CHDs) have been reported; however, studies of the contemporary UK population are lacking.
R. Knowles, D. Ridout, S. Crowe, C. Bull, J. Wray, J. Tregay, R. Franklin, D. Barron, D. Cunningham, R. Parslow, K. Brown   +10 more
semanticscholar   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Comparison of Two Measurement Devices for Pulse Wave Velocity in Children: Which Tool Is Useful to Detect Vascular Alterations Caused by Overweight?

Frontiers in Pediatrics, 2019
Vascular alterations may lead to manifest cardiovascular disease in future life. There is a tremendous time delay between the onset and obvious clinical appearance of vascular alterations.
Julia Elmenhorst, Heidi Weberruss, Martina Mayr, Karin Pfister, Renate Oberhoffer, Renate Oberhoffer   +5 more
doaj   +1 more source