Paper 1: the EUROCAT network—organization and processes

PA Boyd, M Haeusler, I Barisic, M Loane… - … Research Part A …, 2011 - Wiley Online Library
Abstract The European Surveillance of Congenital Anomalies (EUROCAT) is a network of
population‐based congenital anomaly registries in Europe, funded by the European Union …

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 …

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X‐linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

C Bergmann, K Zerres, J Senderek… - Brain, 2003 - academic.oup.com
We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers
affected by a recognizable pattern of clinical and neuroradiological hallmarks. The …

[HTML][HTML] Tumor-associated copy number changes in the circulation of patients with prostate cancer identified through whole-genome sequencing

E Heitzer, P Ulz, J Belic, S Gutschi, F Quehenberger… - Genome medicine, 2013 - Springer
Background Patients with prostate cancer may present with metastatic or recurrent disease
despite initial curative treatment. The propensity of metastatic prostate cancer to spread to …

[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 …

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study

MR McGivern, KE Best, J Rankin, D Wellesley… - Archives of Disease in …, 2015 - fn.bmj.com
Introduction Published prevalence rates of congenital diaphragmatic hernia (CDH) vary.
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 …

Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions

E Garne, M Haeusler, I Barisic, R Gjergja… - … in Obstetrics and …, 2002 - Wiley Online Library
Objective To evaluate prenatal diagnosis of congenital diaphragmatic hernia by ultrasound
in well‐defined European populations. Design Data from 20 registries of congenital …

Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries

I Barisic, M Clementi, M Haeusler… - … in Obstetrics and …, 2001 - Wiley Online Library
Objectives To evaluate the current effectiveness of routine prenatal ultrasound screening in
detecting gastroschisis and omphalocele in Europe. Design Data were collected by 19 …

[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 …