Results 151 to 160 of about 358,184 (353)
Developmental Dynamics, EarlyView.Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
wiley +1 more source
Scientific ReportsTo investigate the prenatal diagnostic value and pregnancy outcomes of rare autosomal trisomies (RATs) as indicated by non-invasive prenatal testing (NIPT), and to contribute to good childbearing.
Yiming Chen +4 more
doaj +1 more source
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 +6 more
wiley +1 more source
Assessing the Role and Effectiveness of Prenatal Care: History, Challenges, and Directions for Future Research [PDF]
, 2001 Greg R. Alexander
openalex +2 more sources
Trajectories of Childhood Adversity and Eating Disorders in Adolescence
International Journal of Eating Disorders, EarlyView.ABSTRACT Objective Childhood adversities are linked to eating disorders (EDs), but their cumulative and evolving nature is often overlooked. This study employs a comprehensive measure of adversities, captured through trajectories across ages 0–9, to examine associations with (1) clinically diagnosed EDs at ages 10–18 and (2) a composite outcome of ...
Andrea Joensen +5 more
wiley +1 more source
Predictors of intentions to stop smoking early in prenatal care [PDF]
, 2000 D Ershoff
openalex +1 more source
Maternal Gestational Low‐Grade Inflammation and the Risk of Anorexia Nervosa in Daughters
International Journal of Eating Disorders, EarlyView.ABSTRACT Objective Prenatal exposures have been suggested to have a programming effect on neural and metabolic development, which may affect the risk of eating disorders. We investigated the association between prospectively measured maternal gestational high‐sensitivity C‐reactive protein (hs‐CRP), an established inflammatory biomarker, and subsequent
Emma Saure +6 more
wiley +1 more source
Neonatal seizures: Advances in diagnosis and management
Epilepsia Open, EarlyView.Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz +2 more
wiley +1 more source