Atrial septal defects

T Geva, JD Martins, RM Wald - The Lancet, 2014 - thelancet.com
Atrial septal defects are the third most common type of congenital heart disease. Included in
this group of malformations are several types of atrial communications that allow shunting of …

Down syndrome—recent progress and future prospects

FK Wiseman, KA Alford, VLJ Tybulewicz… - Human molecular …, 2009 - academic.oup.com
Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated
with a number of deleterious phenotypes, including learning disability, heart defects, early …

Primary care of adults with intellectual and developmental disabilities: 2018 Canadian consensus guidelines

WF Sullivan, H Diepstra, J Heng, S Ally, E Bradley… - Canadian Family …, 2018 - cfp.ca
Abstract Objective To update the 2011 Canadian guidelines for primary care of adults with
intellectual and developmental disabilities (IDD). Methods Family physicians and other …

Genómica del síndrome de Down

S Díaz-Cuéllar, E Yokoyama-Rebollar… - Acta pediátrica de …, 2016 - scielo.org.mx
El síndrome de Down es la cromosomopatía más común del ser humano, con una
frecuencia de 1 en 650 recién nacidos vivos. Las manifestaciones clínicas son muy …

The contribution of chromosomal abnormalities to congenital heart defects: a population-based study

RJ Hartman, SA Rasmussen, LD Botto… - Pediatric …, 2011 - Springer
We aimed to assess the frequency of chromosomal abnormalities among infants with
congenital heart defects (CHDs) in an analysis of population-based surveillance data. We …

Trends in congenital heart defects in infants with Down syndrome

S Bergström, H Carr, G Petersson, O Stephansson… - …, 2016 - publications.aap.org
BACKGROUND: As a result of antenatal screening, abortion of fetuses with Down syndrome
has become increasingly common. Little is known about the cardiovascular phenotype in …

Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome

E Lana-Elola, R Aoidi, M Llorian, D Gibbins… - Science translational …, 2024 - science.org
Down syndrome (DS) is caused by trisomy of human chromosome 21 (Hsa21). DS is a gene
dosage disorder that results in multiple phenotypes including congenital heart defects. This …

Growth charts for children with Down syndrome in the United States

BS Zemel, M Pipan, VA Stallings, W Hall, K Schadt… - …, 2015 - publications.aap.org
BACKGROUND AND OBJECTIVES: Children with Down syndrome (DS) have lower birth
weights and grow more slowly than children without DS. Advances in and increased access …

Of mice and men: molecular genetics of congenital heart disease

TA Andersen, KLL Troelsen, LA Larsen - Cellular and molecular life …, 2014 - Springer
Congenital heart disease (CHD) affects nearly 1% of the population. It is a complex disease,
which may be caused by multiple genetic and environmental factors. Studies in human …

Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome

ME Weijerman, AM van Furth… - European journal of …, 2010 - Springer
The aim of this study was to assess the prevalence of congenital heart defects (CHDs) and
persistent pulmonary hypertension of the neonate (PPHN) in children with Down syndrome …