Results 41 to 50 of about 53,437 (286)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
Arquivos Brasileiros de Cardiologia, 2003 OBJECTIVE: To analyze the frequency and prevalence of congenital heart defects in a tertiary care center for children with heart diseases. METHODS: We carried out an epidemiological assessment of the first medical visit of 4,538 children in a pediatric ...
Nelson Itiro Miyague +6 more
doaj +1 more source
Real-time three-dimensional ultrasound : a valuable new tool in preoperative assessment of complex congenital cardiac disease [PDF]
, 2003 Evaluating complex cardiac defects in small children preoperatively requires multiple diagnostic procedures including echocardiography, and also invasive methods such as cardiac catheterisation, computer-tomography and magnetic resonance imaging.
Dalla Pozza, Robert +3 more
core
Early postoperative interventional ASD-closure for severe atrial right to left shunt in a neonate with common arterial trunk [PDF]
, 2013 Although closure of an atrial septal defect (ASD II) with an occluding device in the first year of life is not a routine procedure, it is a feasible treatment, even in neonates.
Dilber, Daniel +2 more
core +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Genetic testing for tetralogy of Fallot
The EuroBiotech Journal, 2018 Tetralogy of Fallot (ToF) combines congenital cardiac defects including ventricular septal defect, pulmonary stenosis, an overriding aorta and right ventricular hypertrophy.
Rakhmanov Yeltay +5 more
doaj +1 more source
Clinics and Practice, 2017 Interventricular membranous septal (IVMS) aneurysm is a rare condition with no accurate incidence. It is known to be associated with 0.3 % of congenital heart disease and 19 % of ventricular septal defects.
Munish Sharma, Farhad Elmi
doaj +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Incidence and Types of Congenital Heart Diseases among Children in Sulaimani Governorate
Kurdistan Journal of Applied Research, 2017 Congenital heart diseases (CHD) are common causes of cardiovascular morbidity and mortality among young children and adolescents. It is the most common form of structural congenital defects.
Niaz Kamal, Nasih Othman, Aso Salih
doaj +1 more source
Tessier number 30 clefts with congenital heart defects [PDF]
, 2015 Introduction: Midline cleft of mandible, classified as Tessier 30 clefts is extremely rare, with less than 100 reported cases in the latest studies. Variations in severity and associated malformations have been reported before. Case Presentation: In this
Aminolsharieh Najaf, S. +4 more
core +1 more source