Kolexia
Michaud Vincent Génétique médicale
Michaud Vincent
Génétique médicale
Hôpital Pellegrin
Bordeaux, France
53 Activités
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{{person.topmesh1.name}} Albinisme Albinisme oculocutané Déficience intellectuelle Syndrome d'Hermanski-Pudlak Albinisme oculaire Épilepsie Crises épileptiques Prédisposition génétique à une maladie Hypopigmentation

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Lasseaux Eulalie
Lasseaux Eulalie
Institut Bergonié, Bordeaux, France
Lacombe Didier
Lacombe Didier
Camsp Polyvalent, Bordeaux, France
Trimouille Aurelien
Trimouille Aurelien
Hôpital Pellegrin, Bordeaux, France
Morice-Picard Fanny
Morice-Picard Fanny
Hôpital Pellegrin, Bordeaux, France

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1 collaboration(s)
Dernière en 2017
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Dernières activités

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RID: Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Variants From High-throughput Sequencing (RID)
Essai Clinique (CHU Bordeaux)   20 février 2024
Al Kaissi syndrome : a novel cohort of 15 patients with biallelic variations in the CDK10 gene : functional analysis, phenotypic description and review of the literature
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Biallelic PI4KA mutations Disrupt B Cell Mitochondrial Metabolism and Cause Hypogammaglobulinemia
65th ASH Annual Meeting Abstracts   02 novembre 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
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Investigative ophthalmology & visual science   15 septembre 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.
Pigment cell & melanoma research   31 août 2023
A multilayered approach to the analysis of genetic data from individuals with suspected albinism.
Journal of medical genetics   17 juillet 2023
DIA: Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism
Essai Clinique (CHU Bordeaux)   14 juin 2023
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.
Annals of neurology   22 mai 2023