M.C. Addor

Discipline

Anthropologie biologique (4)

Type de document

Articles (28) Recensions (1)

Co-auteur

Date

Source

Mot-clé

Human beings (21) Abnormalities, Human (15) Cases (14) Pregnancy (14) Cases (14) Pregnancy (14) Europe (10) Europe (10) Population (10) Europe (10) Population (10) nourisson (9) risque (9) Risk (9) nourrisson (9) taux (8) Methods (8) Abnormalities (8) Patients (8) Plants--Abnormalities (8) Animals--Abnormalities (8) Methods (8) Patients (8) adulte (7) Phenotype (7) Genes (7) Childbirth (7) adulte (7) surveillance (6) mutation (6)

Documents écrit par M.C. Addor (28) | parle de M.C. Addor (0)

Amniotic band syndrome and limb body wall complex in Europe 1980-2019.
JEH Bergman et al.
Reproductive Safety of Trazodone After Maternal Exposure in Early Pregnancy: A Comparative ENTIS Cohort Study.
K. Dao et al. (2023)
Maternal risk factors for the VACTERL association: A EUROCAT case-control study.
R. van de Putte et al. (15 mai 2020)
Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature.
F. Bastos et al. (13 janv. 2020)
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
S.M. Papuc et al.
Metformin exposure in first trimester of pregnancy and risk of all or specific congenital anomalies: exploratory case-control study.
J.E. Given et al. (25 juin 2018)
Beta-Blocker Use in Pregnancy and Risk of Specific Congenital Anomalies: A European Case-Malformed Control Study.
JEH Bergman et al.
Trends in congenital anomalies in Europe from 1980 to 2012.
J.K. Morris et al. (2018)
Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.
B. Boyle et al.
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
C. Reggiani et al. (19 juil. 2017)
EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations.
J.E. Given et al.
Prevalence of microcephaly in Europe: population based study.
J.K. Morris et al. (13 sept. 2016)
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
E.M. Wade et al. (4 août 2016)
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
G. Mirzaa et al. (16 juin 2016)
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies.
H. Dolk et al. (3 mai 2016)
Epidemiology of hypospadias in Europe: a registry-based study.
J.E. Bergman et al. (2015)
Holt Oram syndrome: a registry-based study in Europe.
I. Barisic et al. (2014)
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
C. Fallet-Bianco et al. (2014)
Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening.
B. Boyle et al. (2014)
Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study.
M.C. Rossier et al. (2014)
Atrioventricular septal defects among infants in Europe: a population-based study of prevalence, associated anomalies, and survival.
N. Christensen et al. (2012)
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
G. Jaureguiberry et al. (2012)
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
C. DeScipio et al. (2012)
Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome.
C.S. Hwang et al. (2011)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
S. Jacquemont et al. (2011)

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