Kolexia
Boute-Benejean Odile Génétique médicale
Boute-Benejean Odile
Génétique médicale
Hôpital Jeanne de Flandre
Lille, France
90 Activités
1 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Malformations multiples Faciès Prédisposition génétique à une maladie Troubles de la croissance Microcéphalie Cardiopathies congénitales Bec-de-lièvre

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Trocme-Goldenberg Alice
Trocme-Goldenberg Alice
Hôpital Charles Nicolle, Rouen, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
Petit Florence
Petit Florence
Hôpital Jeanne de Flandre, Lille, France

Industries

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Harris Interactive
1 collaboration(s)
Dernière en 2020
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Dernières activités

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MOSAÏQUE: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Essai Clinique (CHU Dijon-Bourgogne)   20 février 2024
DISSEQ – Double-blind exome and large gene panel sequencing analyses in the first-line diagnosis of 330 patients with intellectual disability (ID): ES superiority for the identification of CNV, variants in new disease-causing genes, and new candidate genes, as well as the advantage of possible prospective reanalysis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly.
European journal of human genetics : EJHG   26 octobre 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.
Genetics in medicine : official journal of the American College of Medical Genetics   17 octobre 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Clinical genetics   14 août 2023
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genetics in medicine : official journal of the American College of Medical Genetics   05 mai 2023
AnDDI-prenatome - the French national project of prenatal trio exome sequencing: 43% of diagnostic yield in 28 days with 80% pregnancy care changes
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
MED13L missense variations cause multifaceted functional consequences underlying severe phenotypes
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Pathogenic variants in the paired-related homeobox 1 (PRRX1) gene are associated with craniosynostosis
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023