Kolexia
Petit Florence
Génétique médicale
Hôpital Jeanne de Flandre
Lille, France
179 Activités
0 Followers

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{{person.topmesh1.name}} Déficience intellectuelle Prédisposition génétique à une maladie Malformations multiples Anomalies morphologiques congénitales des membres Mégalencéphalie Hernie diaphragmatique Anomalies morphologiques congénitales de la main Épilepsie Microcéphalie

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

Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Clinical genetics   29 février 2024
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
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
medRxiv : the preprint server for health sciences   17 janvier 2024
A Phase II double-blind multi-center, placebo-controlled trial, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM trial
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Biallelic variants in ITFG2, a subunit of the KICSTOR complex, affect mTOR signaling pathway and lead to a syndromic neurodevelopmental disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 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
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Human genetics   20 décembre 2023
OPALE: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Essai Clinique (Hôpital Pitie Salpetriere)   13 décembre 2023
SESAM: A Phase II Double-blind Multi-center, Placebo-controlled Trial, to Assess the Efficacy and Safety of Alpelisib (BYL719) in Pediatric and Adult Patients With Megalencephaly-CApillary Malformation Polymicrogyria Syndrome (MCAP)
Essai Clinique (Novartis)   08 décembre 2023