List of works - Marie-Claude Addor

Association Down syndrome-retinoblastoma: a new observation

scientific article published in September 2005

Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival

scientific article

Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study

scientific article published on 11 December 2017

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

scientific article published on 24 July 2008

Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.

scientific article published on 8 September 2015

Congenital clubfoot in Europe: A population-based study

scientific article published on 10 February 2019

Congenital hydrocephalus--prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

scientific article

Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature

scientific article

EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication

scientific article published on 28 June 2016

EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations

scientific article (publication date: October 2016)

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

scientific article published on 12 July 2019

Epidemiology of achondroplasia: A population-based study in Europe

scientific article published on 11 July 2019

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

scientific article published on 26 June 2019

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

scientific article published on 19 November 2014

Epidemiology of hypospadias in Europe: a registry-based study

scientific article

Epidemiology of lip-maxilla-palate clefts in the canton of Vaud

scientific article published in August 2003

Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study

scientific article published on 11 April 2014

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

scholarly article by Ester Garne et al published September 2018 in European Journal of Medical Genetics

Epidemiology of small intestinal atresia in Europe: a register-based study

scholarly article by Kate E Best et al published 29 August 2012 in Archives of Disease in Childhood. Fetal and Neonatal Edition

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

scientific article

Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study

scientific article published on 4 December 2014

Fraser Syndrome: Epidemiological Study in a European Population

article

Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors

scientific article published on 25 August 2017

Hirschsprung's disease prevalence in Europe: a register based study

scientific article

Holt Oram syndrome: a registry-based study in Europe

scientific article

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

scientific article published on 6 April 2016

Long term trends in prevalence of neural tube defects in Europe: population based study

scientific article

Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry study

article by Joan K. Morris et al published 24 September 2014 in American Journal of Medical Genetics

Maternal risk factors for the VACTERL association: A EUROCAT case-control study

scientific article published on 22 April 2020

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

scientific article published on 3 September 2014

Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study.

scientific article

Methadone, Pierre Robin sequence and other congenital anomalies: case-control study

scientific article published on 22 June 2019

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

scientific article published in March 2012

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in the human UBR1 gene and the associated phenotypic spectrum

scientific article published on 09 April 2014

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

scientific article

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

scientific article

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

scientific article published on 19 July 2017

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

Paper 6: EUROCAT member registries: organization and activities

scientific article published on 04 March 2011

Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.

scientific article published on 2 July 2014

Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

article

Prevalence of microcephaly in Europe: population based study

scientific article (publication date: 2016)

Prevalence of valproate syndrome in Europe from 2005 to 2014: A registry based multi-centre study

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

scientific article

Preventing neural tube defects in Europe: a missed opportunity

scientific article published on September 2005

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

scientific article published on 11 January 2012

Recent decrease in the prevalence of congenital heart defects in Europe

scientific article published on 24 July 2012

Seasonality of congenital anomalies in Europe.

scientific article

Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies: a European register-based study

scientific article

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

scientific article published on 09 September 2019

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

article by Ester Garne et al published 28 February 2012 in Birth Defects Research Part A: Clinical and Molecular Teratology

Survival and health in liveborn infants with transposition of great arteries--a population-based study

scientific article published in May 2007

The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe: An Ecological Time Series Study.

scientific article

The changing epidemiology of Ebstein's anomaly and its relationship with maternal mental health conditions: a European registry-based study

scientific article

Toward the effective surveillance of hypospadias

scientific article

Trends in congenital anomalies in Europe from 1980 to 2012.

scientific article

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

scientific article

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome

scientific article

Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study

scientific article published on 25 July 2015

Use of hierarchical models to analyze European trends in congenital anomaly prevalence

scientific article

List of works by Marie-Claude Addor

Association Down syndrome-retinoblastoma: a new observation

Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival

Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.

Congenital clubfoot in Europe: A population-based study

Congenital hydrocephalus--prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature

EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication

EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations

Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study

Epidemiology of achondroplasia: A population-based study in Europe

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

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

Epidemiology of hypospadias in Europe: a registry-based study

Epidemiology of lip-maxilla-palate clefts in the canton of Vaud

Epidemiology of multiple congenital anomalies in Europe: a EUROCAT population-based registry study

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age – A EUROCAT study

Epidemiology of small intestinal atresia in Europe: a register-based study

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study

Fraser Syndrome: Epidemiological Study in a European Population

Gastroschisis in Europe - A Case-malformed-Control Study of Medication and Maternal Illness during Pregnancy as Risk Factors

Hirschsprung's disease prevalence in Europe: a register based study

Holt Oram syndrome: a registry-based study in Europe

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

Long term trends in prevalence of neural tube defects in Europe: population based study

Major congenital anomalies in babies born with Down syndrome: A EUROCAT population-based registry study

Maternal risk factors for the VACTERL association: A EUROCAT case-control study

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study.

Methadone, Pierre Robin sequence and other congenital anomalies: case-control study

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Mutations in the human UBR1 gene and the associated phenotypic spectrum

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Paper 6: EUROCAT member registries: organization and activities

Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe.

Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

Prevalence of microcephaly in Europe: population based study

Prevalence of valproate syndrome in Europe from 2005 to 2014: A registry based multi-centre study

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe

Preventing neural tube defects in Europe: a missed opportunity

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

Recent decrease in the prevalence of congenital heart defects in Europe

Seasonality of congenital anomalies in Europe.

Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies: a European register-based study

Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

Survival and health in liveborn infants with transposition of great arteries--a population-based study

The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe: An Ecological Time Series Study.

The changing epidemiology of Ebstein's anomaly and its relationship with maternal mental health conditions: a European registry-based study

Toward the effective surveillance of hypospadias

Trends in congenital anomalies in Europe from 1980 to 2012.

Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening

Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome

Use of asthma medication during pregnancy and risk of specific congenital anomalies: A European case-malformed control study

Use of hierarchical models to analyze European trends in congenital anomaly prevalence