Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study
J Jentink, H Dolk, MA Loane, JK Morris, D Wellesley… - BmJ, 2010 - bmj.com
Objective To identify specific major congenital malformations associated with use of
carbamazepine in the first trimester of pregnancy. Design A review of all published cohort …
carbamazepine in the first trimester of pregnancy. Design A review of all published cohort …
Paper 6: EUROCAT member registries: organization and activities
R Greenlees, A Neville, MC Addor… - … Research Part A …, 2011 - Wiley Online Library
BACKGROUND EUROCAT is a network of population‐based congenital anomaly registries
providing standardized epidemiologic information on congenital anomalies in Europe. There …
providing standardized epidemiologic information on congenital anomalies in Europe. There …
Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis
O Gribouval, V Morinière, A Pawtowski… - Human …, 2012 - Wiley Online Library
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular
development characterized by early onset and persistent fetal anuria leading to …
development characterized by early onset and persistent fetal anuria leading to …
[HTML][HTML] Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
J Lord, DJ McMullan, RY Eberhardt, G Rinck… - The Lancet, 2019 - thelancet.com
Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …
range of genetic causes, including chromosomal aneuploidy, copy number variations …
[HTML][HTML] Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
M Loane, JK Morris, MC Addor, L Arriola… - European Journal of …, 2013 - nature.com
This study examines trends and geographical differences in total and live birth prevalence of
trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in …
trisomies 21, 18 and 13 with regard to increasing maternal age and prenatal diagnosis in …
Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study
Introduction Published prevalence rates of congenital diaphragmatic hernia (CDH) vary.
This study aims to describe the epidemiology of CDH using data from high-quality …
This study aims to describe the epidemiology of CDH using data from high-quality …
Long term trends in prevalence of neural tube defects in Europe: population based study
B Khoshnood, M Loane, H De Walle, L Arriola… - Bmj, 2015 - bmj.com
Study question What are the long term trends in the total (live births, fetal deaths, and
terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects …
terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects …
[HTML][HTML] Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
D Wellesley, H Dolk, PA Boyd, R Greenlees… - European Journal of …, 2012 - nature.com
The aim of this study is to quantify the prevalence and types of rare chromosome
abnormalities (RCAs) in Europe for 2000–2006 inclusive, and to describe prenatal …
abnormalities (RCAs) in Europe for 2000–2006 inclusive, and to describe prenatal …
Estimating global burden of disease due to congenital anomaly: an analysis of European data
B Boyle, MC Addor, L Arriola, I Barisic… - Archives of Disease in …, 2018 - fn.bmj.com
Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital
anomaly for Europe by comparing infant mortality data collected by EUROCAT registries …
anomaly for Europe by comparing infant mortality data collected by EUROCAT registries …
Autism, language and communication in children with sex chromosome trisomies
DVM Bishop, PA Jacobs, K Lachlan… - Archives of disease in …, 2011 - adc.bmj.com
Purpose Sex chromosome trisomies (SCTs) are found on amniocentesis in 2.3–3.7 per 1000
same-sex births, yet there is a limited database on which to base a prognosis. Autism has …
same-sex births, yet there is a limited database on which to base a prognosis. Autism has …