Kolexia
Colin Estelle Génétique médicale
Colin Estelle
Génétique médicale
Université d'Angers
Angers, France
135 Activités
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Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Microcéphalie Maladies mitochondriales Épilepsie Perte d'audition Encéphalopathies Cardiopathies congénitales Maladies génétiques congénitales Malformations multiples

Collaborateurs

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Bonneau Dominique
Bonneau Dominique
Hôpital Larrey Angers, Angers, France
Ziegler Alban
Ziegler Alban
American Memorial Hospital Chu Reims, Reims, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Guichet Agnes
Guichet Agnes
Hôpital Larrey Angers, Angers, France

Industries

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Pfizer
1 collaboration(s)
Dernière en 2023
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Dernières activités

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ORIGIN: Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN
Essai Clinique (CHU Angers)   18 mars 2024
Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families.
European journal of medical genetics   12 février 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Genetics in medicine : official journal of the American College of Medical Genetics   27 janvier 2024
OMIXCARE: OMICS technologiessolved about 33% of the patientswith heterogeneous rareneuro-developmental disordersand negative exome sequencingresults and identified 13%additional candidate variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Further phenotypical delineation of DLG3 related Intellectual developmental disorder: description of 9 new cases
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 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
Interest of exome sequencing in non-syndromic specific learning disorders: a French pilot study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
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
Tyrosine kinase receptor gene fusion: A series of four cases of infantile-type hemispheric glioma.
Annales de pathologie   25 août 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Journal of medical genetics   16 août 2023