Kolexia
Andrieux Joris Génétique médicale
Andrieux Joris
Génétique médicale
Hôpital Jeanne de Flandre
Lille, France
132 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Délétion de segment de chromosome Déficience intellectuelle Malformations multiples Trisomie Duplication chromosomique Épilepsie Maladies chromosomiques Faciès Aberrations des chromosomes

Collaborateurs

Voir plus
Delobel Bruno
Delobel Bruno
Hôpital Saint Vincent de Paul Lille, Lille, France
Le Caignec Cedric
Le Caignec Cedric
Hôpital Purpan, Toulouse, France
Sanlaville Damien
Sanlaville Damien
Hôpital Femme Mère Enfant, Bron, France
Mathieu Michele
Mathieu Michele
Centre Hospitalier D'Amiens Salouël Site Sud, Salouël, France

Industries

Voir plus
{{person.topindus1.name}}
{{person.topindus1.tot}} collaboration(s)
Dernière en {{person.topindus1.last}}
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Voir plus
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
American journal of medical genetics. Part A   16 novembre 2023
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Clinical genetics   15 décembre 2021
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.
American journal of human genetics   06 novembre 2020
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Human genetics   20 novembre 2019
duplications including NFIX cause intellectual disability, growth retardation and microcephaly: a reversed Sotos syndrome-2?
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Homozygous variant of PGAP1 as a cause of severe developmental delay and intellectual disability identified by Exome sequencing
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
delineation of a novel 2q11.1q11.2 microduplication syndrome
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrum
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019
Whole Genome Sequencing of 9 patients allowed a better understanding of complex chromosomal rearrangements
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019