CLINICAL CHARACTERISTICS OF PREGNANT WOMEN WITH ISOLATED CONGENITAL HEART DEFECTS IN THE FETUS
Медична наука України, 2021 Relevance. Cardiovascular pathology today remains one of the main causes of morbidity, mortality and early disability in populations; occupies a leading place among developmental defects in children (up to 30 %).
Y.V. Dudierina +3 more
doaj +1 more source
Ethnical variations in the incidence of congenital heart defects in Gorgan, Northern Iran: A single-center study [PDF]
, 2014 Background: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.
Golalipour, M.J. +4 more
core
Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]
, 2005 BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E. +2 more
core +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart +6 more
wiley +1 more source
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue +16 more
wiley +1 more source
Le Cœur en Sabot: shape associations with adverse events in repaired tetralogy of Fallot
Journal of Cardiovascular Magnetic Resonance, 2022 Background Maladaptive remodelling mechanisms occur in patients with repaired tetralogy of Fallot (rToF) resulting in a cycle of metabolic and structural changes.
Anna Mîra +19 more
doaj +1 more source
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
Peri-operative Anesthetic Innovations During Pediatric Cardiac Surgery [PDF]
, 2011 Congenital heart disease (CHD) refers to a series of birth defects that aff ect the heart and thoracic vessels, aff ecting 6 to 8 out of 1,000 babies being born.
Scohy, T.V. (Thierry)
core +1 more source
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]
, 2020 Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel +25 more
core
Adverse social determinats and risk for congenital anomalies [PDF]
, 2014 INTRODUCCIÓN: Diferentes trabajos han relacionando condiciones sociales adversas a nivel familiar y regional con resultados perinatales (mortalidad neonatal, bajo peso y prematuridad); sin embargo, pocos estudiaron el efecto de la pobreza sobre anomalías
Campaña, Hebe +8 more
core +3 more sources