Publications by authors named "Isabelle Perthus"

Claim this Profile
G
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network.
Jorieke E H Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Isabelle Perthus

Paediatr Perinat Epidemiol· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort.
Elise Daire, Clément Sauvestre, Antoine Moktadir, Patrice Bouvagnet, Anne-Claire Brehin, Isabelle Perthus

Pediatr Cardiol· October 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Antiretroviral drug exposure in pregnancy and risk of congenital anomalies: a European case/non-case malformed study.
Laura Saint-Lary, Anna-Belle Beau, Agnès Sommet, Valériane Leroy, Maria Loane, Isabelle Perthus

Eur J Clin Pharmacol· May 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study.
Charlotte Dubucs, Anthony Caillet, Félix Frémont, Laurane Delteil, Van N'Go, Isabelle Perthus

Birth Defects Res· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France.
Julie Boudet-Berquier, Christophe Demattei, Laurence Guldner, Anne Gallay, Sylvie Manouvrier, Isabelle Perthus

Eur J Epidemiol· July 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Surveillance of multiple congenital anomalies; searching for new associations.
Joan K Morris, Jorieke E H Bergman, Ingeborg Barisic, Diana Wellesley, David Tucker, Isabelle Perthus

Eur J Hum Genet· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical, genetic and biochemical signatures of -related ocular malformations.
Julie Plaisancié, Jelena Martinovic, Bertrand Chesneau, Sandra Whalen, Diana Rodriguez, Isabelle Perthus

J Med Genet· December 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
O
Optical genome mapping for prenatal diagnosis: A prospective study.
Carole Goumy, Zangbéwendé Guy Ouedraogo, Gwendoline Soler, Eleonore Eymard-Pierre, Hélène Laurichesse, Isabelle Perthus

Clin Chim Acta· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Feasibility of Optical Genome Mapping from Placental and Umbilical Cord Sampled after Spontaneous or Therapeutic Pregnancy Termination.
Carole Goumy, Zangbéwendé Guy Ouedraogo, Elodie Bellemonte, Eleonore Eymard-Pierre, Gwendoline Soler, Isabelle Perthus

Diagnostics (Basel)· November 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
F
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Julie Masson, Céline Pebrel-Richard, Matthieu Egloff, Mathilde Frétigny, Marion Beaumont, Isabelle Perthus

Clin Genet· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Amniotic band syndrome and limb body wall complex in Europe 1980-2019.
Jorieke E H Bergman, Ingeborg Barišić, Marie-Claude Addor, Paula Braz, Clara Cavero-Carbonell, Isabelle Perthus

Am J Med Genet A· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Maternal age and the prevalence of congenital heart defects in Europe, 1995-2015: A register-based study.
Chrysovalanto Mamasoula, Theophile Bigirumurame, Thomas Chadwick, Marie-Claude Addor, Clara Cavero-Carbonell, Isabelle Perthus

Birth Defects Res· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epidemiology of aplasia cutis congenita: A population-based study in Europe.
Alessio Coi, Ingeborg Barisic, Ester Garne, Anna Pierini, Marie-Claude Addor, Isabelle Perthus

J Eur Acad Dermatol Venereol· March 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prevalence of congenital heart defects in Europe, 2008-2015: A registry-based study.
Chrysovalanto Mamasoula, Marie-Claude Addor, Clara Cavero Carbonell, Carlos M Dias, Luis-Javier Echevarría-González-de-Garibay, Isabelle Perthus

Birth Defects Res· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.
Joan K Morris, Diana Wellesley, Elizabeth Limb, Jorieke E H Bergman, Agnieszka Kinsner-Ovaskainen, Isabelle Perthus

Birth Defects Res· December 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Identification of the First Single Exon 8 Structural Variants Associated with Autosomal Dominant Hearing Loss.
Luke Mansard, Christel Vaché, Julie Bianchi, Corinne Baudoin, Isabelle Perthus

Diagnostics (Basel)· January 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epidemiology of Pierre-Robin sequence in Europe: A population-based EUROCAT study.
Michele Santoro, Alessio Coi, Ingeborg Barišić, Anna Pierini, Marie-Claude Addor, Isabelle Perthus

Paediatr Perinat Epidemiol· September 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Prevention of Neural Tube Defects in Europe: A Public Health Failure.
Joan K Morris, Marie-Claude Addor, Elisa Ballardini, Ingeborg Barisic, Laia Barrachina-Bonet, Isabelle Perthus

Front Pediatr· June 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cost and outcomes of the ultrasound screening program for birth defects over time: a population-based study in France.
Clément Ferrier, Babak Khoshnood, Ferdinand Dhombres, Hanitra Randrianaivo, Isabelle Perthus

BMJ Open· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epidemiology of Dandy-Walker Malformation in Europe: A EUROCAT Population-Based Registry Study.
Michele Santoro, Alessio Coi, Ingeborg Barišić, Ester Garne, Marie-Claude Addor, Isabelle Perthus

Neuroepidemiology· June 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Maternal risk factors for the VACTERL association: A EUROCAT case-control study.
Romy van de Putte, Iris A L M van Rooij, Cynthia P Haanappel, Carlo L M Marcelis, Han G Brunner, Isabelle Perthus

Birth Defects Res· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Spectrum of congenital anomalies among VACTERL cases: a EUROCAT population-based study.
Romy van de Putte, Iris A L M van Rooij, Carlo L M Marcelis, Michel Guo, Han G Brunner, Isabelle Perthus

Pediatr Res· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Association between hereditary predisposition to common cancers and congenital multimalformations.
Fabrice Kwiatkowski, Isabelle Perthus, Nancy Uhrhammer, Christine Francannet, Marie Arbre

Congenit Anom (Kyoto)· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Epidemiology of achondroplasia: A population-based study in Europe.
Alessio Coi, Michele Santoro, Ester Garne, Anna Pierini, Marie-Claude Addor, Isabelle Perthus

Am J Med Genet A· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Risks of 23 specific malformations associated with prenatal exposure to 10 antiepileptic drugs.
Pierre-Olivier Blotière, Fanny Raguideau, Alain Weill, Elisabeth Elefant, Isabelle Perthus

Neurology· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis