Results 41 to 50 of about 246,811 (245)
American Journal of Hematology, EarlyView.ABSTRACT Diamond–Blackfan Anemia Syndrome (DBAS) is a rare congenital anemia often requiring chronic red blood cell transfusions from infancy. Without appropriate chelation, iron overload develops early and may be severe; however, no data are available on chelation in patients under 3 years of age.
Francesca Torchio +19 more
wiley +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
The Year in Congenital Heart Disease
Journal of the American College of Cardiology, 2004 This has been an exciting time in congenital heart disease (CHD) because more conditions are being palliated or repaired effectively and more adults are leading more active and productive lives because of their care by pediatric cardiologists and specialists in adult CHD. Koh et al.
openaire +8 more sources
Management of congenital heart disease [PDF]
Journal of Thoracic Disease, 2020 The past couple of decades have been a very exciting time for providers taking care of patients with congenital heart disease. We have made tremendous progress in almost all aspects and facets, ranging from early detection, better understanding of the basis of such defects, single ventricle palliation, cardiopulmonary bypass and heart transplantation ...
openaire +2 more sources
35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li +25 more
wiley +1 more source
Consanguinity and the risk of congenital heart disease
, 2012 Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is
Hudgins, L. +2 more
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A uniform description of perioperative brain MRI findings in infants with severe congenital heart disease: Results of a European collaboration [PDF]
, 2021 BACKGROUND AND PURPOSE: A uniform description of brain MR imaging findings in infants with severe congenital heart disease to assess risk factors, predict outcome, and compare centers is lacking.
for the European Association Brain in Congenital Heart Disease Consortium
core
Biological age in congenital heart disease : exploring the ticking clock
, 2023 Over the past 50 years, there has been a major shift in age distribution of patients with congenital heart disease (CHD) thanks to significant advancements in medical and surgical treatment.
Bo Daelman +9 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source