Results 111 to 120 of about 59,480 (283)

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Hypoplastic left heart syndrome: from fetus to fontan

Cardiology in the Young, 2018
The care of children with hypoplastic left heart syndrome is constantly evolving. Prenatal diagnosis of hypoplastic left heart syndrome will aid in counselling of parents, and selected fetuses may be candidates for in utero intervention. Following birth,
P. Roeleveld, David M. Axelrod, D. Klugman, M. Jones, N. Chanani, J. Rossano, J. Costello   +6 more
semanticscholar   +1 more source

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan, Ayana Cant, Kate Lewis, Vincent Nguyen, Laura Gimeno, Ania Zylbersztejn, Pia Hardelid, Joan Morris, Bianca De Stavola, Katie Harron, Ruth Gilbert, on behalf of the HOPE Study Team   +11 more
wiley   +1 more source

Heart transplantation in children with congenital heart disease [PDF]

, 1932
ObjectivesThe aim of this study was to describe heart transplantation in children with congenital heart disease and to compare the results with those in children undergoing transplantation for other cardiac diseases.BackgroundReports describe decreased ...
Daphne T. Hsu, Jan M. Quaegebeur, Robert E. Michler, Craig R. Smith, Eric A. Rose, Maryanne R. Kichuk, Welton M. Gersony, Judith F. Douglas, Linda J. Addonizio, Morris, Fontan, Hosenpud, Doty, Chartrand, Mayer, Cooper, Bailey, Menkis, Richenbacher, Harjula, Rietz, Radley-Smith, Trento, Armitage, Hasan, Addonizio, Chartrand, Baum, Merrill, Addonizio, Triedman   +30 more
core   +1 more source

Risk Factors for Extubation Failure following Neonatal Cardiac Surgery [PDF]

, 2015
Objective: Extubation failure after neonatal cardiac surgery has been associated with considerable postoperative morbidity, although data identifying risk factors for its occurrence are sparse. We aimed to determine risk factors for extubation failure in
Delius, Ralph E., Gupta, Pooja, Laudato, Nina, Mastropietro, Christopher W., Walters, Henry L. III   +4 more
core   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

NOTCH1‐Dependent Nitric Oxide Signaling Deficiency in Hypoplastic Left Heart Syndrome Revealed Through Patient‐Specific Phenotypes Detected in Bioengineered Cardiogenesis

Stem Cells, 2017
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) attributable to multifactorial molecular underpinnings. Multiple genetic loci have been implicated to increase the risk of disease, yet genotype‐phenotype relationships ...
Sybil C. L. Hrstka, Xing Li, Timothy J. Nelson   +2 more
semanticscholar   +1 more source

Primitive hepatic venous plexus in a child with scimitar syndrome and pulmonary sequestration [PDF]

, 2013
This article reports a case of scimitar syndrome with pulmonary sequestration, persistent primitive hepatic venous plexus and stenosis of the inferior vena cava in a child presenting with failure to thrive.
Morrison, M.L., Paterson, Annie, Sands, Andrew John   +2 more
core  

The emerging roles of ribosome biogenesis in craniofacial development. [PDF]

, 2014
Neural crest cells (NCCs) are a transient, migratory cell population, which originates during neurulation at the neural folds and contributes to the majority of tissues, including the mesenchymal structures of the craniofacial skeleton.
Ross, Adam P, Zarbalis, Konstantinos S
core   +2 more sources

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source