Results 111 to 120 of about 173,062 (307)

How mothers handle their feelings toward children with congenital anomalies: a study of cases seen in psychiatry department of the children's medical center [PDF]

, 1955
Thesis (M.S.)--Boston ...
Abelson, Edna Ruth
core   +1 more source

Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. [PDF]

, 2020
Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During
Alankarage, Dimuthu, Chapman, Gavin, Dunwoodie, Sally L, Giannoulatou, Eleni, Pachter, Nick, Selleri, Licia, Shieh, Joseph T, Slavotinek, Anne, Szot, Justin O, Winlaw, David   +9 more
core   +1 more source

Paediatric development of radiopharmaceutical imaging agents and radioligand therapeutics

British Journal of Clinical Pharmacology, EarlyView.
Abstract This review focuses on the development of radiopharmaceutical imaging agents and radioligand therapeutics for paediatric use. Nuclear medicine plays an important role in the diagnosis and treatment of various childhood conditions, including cancers, infections and brain disorders.
Justin L. Hay, Amandine Manon, Hunter Stephens, S. Y. Amy Cheung, Bart de Keizer, Erik T. te Beek   +5 more
wiley   +1 more source

Identification of major congenital malformations based on healthcare databases in France: A proof‐of‐concept study using the epi‐meres nationwide mother–child register

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim Besides registries, healthcare databases can provide useful information for assessing the frequency of major congenital malformations (MCMs) and investigating their risk factors, particularly medication exposures. This study aimed to assess the validity of MCMs identification based on French national, comprehensive healthcare databases ...
Tom Duchemin, Lise Marty, Jérôme Drouin, Sara Miranda, Jérémie Botton, Valérie Olié, Alain Weill, Rosemary Dray‐Spira   +7 more
wiley   +1 more source

Transcatheter Repair of Sinus Venosus Defect Using a 12‐zig Covered Cheatham‐Platinum Stent in Large Superior Vena Cava—Right Atrium Junctions: Early Multicenter Experience

Catheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Sinus venosus defect (SVD) is a rare congenital heart anomaly characterised by an abnormal communication between the atria, often associated with partial anomalous pulmonary venous connection (PAPVC). Traditional surgical repair carries significant risks, prompting exploration into less invasive transcatheter approaches.
Alberto Fuensalida, Eric Rosenthal, Saleha Kabir, Gergely Szantho, Sophia Yong, Demetris Taliotis, Mark Turner, Radwa Bedair   +7 more
wiley   +1 more source

Mothers of children with congenital heart defects: the effects of ethnicity and education on perceptions, attitudes and feelings; (Implications for social work practice) [PDF]

, 1963
Thesis (M.S.)--Boston University ...
Feinstein, Barbara, Frum, Catherine, Miller, Priscilla Charlton, Rice, Margaret Ann, Royster, Natalie Jackson, Weissman, Sylvia Dobzinsky   +5 more
core   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

Expression of mutant TIE2 p.L914F during mouse development causes embryonic lethality and defects in vascular remodeling

Developmental Dynamics, EarlyView.
Abstract Background Sporadic venous malformation (VM) is associated with the hyperactivating p.L914F mutation in TIE2, a receptor tyrosine kinase essential for vascular development. This mutation is not found in hereditary VM, suggesting incompatibility with life when expressed during early vascular development.
Lindsay J. Bischoff, Sandra Schrenk, Kara Soroko, Chhiring Sherpa, Ashok Arasu, Damien Reynaud, Elisa Boscolo   +6 more
wiley   +1 more source

Trametinib alters contractility of paediatric Noonan syndrome‐associated hypertrophic myocardial tissue slices

ESC Heart Failure
Aims No curative treatment is available for RASopathy‐associated childhood‐onset hypertrophic cardiomyopathy (RAS‐CM). Preclinical data and individual reports suggest a beneficial effect of small molecules targeting the RAS–mitogen‐activated protein (MAP)
Jules Hamers, Payel Sen, Sarala Raj Murthi, Laura Papanakli, Maria vonStumm, Francesca Baessato, Julie Cleuziou, Christian Meierhofer, Peter Ewert, Andreas Dendorfer, Daphne Merkus, Cordula M. Wolf   +11 more
doaj   +1 more source