Kolexia
Bonneau Dominique Pédiatrie
Bonneau Dominique
Pédiatrie
Hôpital Larrey Angers
Angers, France
284 Activités
56 Followers
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{{person.topmesh1.name}} Déficience intellectuelle Atrophie optique autosomique dominante Atrophie optique Maladies mitochondriales Atrophie Atteintes du nerf optique Prédisposition génétique à une maladie Atrophie optique héréditaire de Leber Microcéphalie

Collaborateurs

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Reynier Pascal
Reynier Pascal
Hôpital Larrey Angers, Angers, France
Procaccio Vincent
Procaccio Vincent
Hôpital Larrey Angers, Angers, France
Bonneau Patrizia
Bonneau Patrizia
Hôpital Larrey Angers, Angers, France
Colin Estelle
Colin Estelle
Université d'Angers, Angers, France

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Dernières activités

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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
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene in neurodevelopmental proteasomopathies.
medRxiv : the preprint server for health sciences   26 janvier 2024
Urine-derived cells: a non-invasive approach to the analysis of mitochondrial functions and mitochondrial diseases diagnosis
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Genomic newborn screening in France: from a social acceptability study to a pilot project
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
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
Mélanome métastatique et variants homozygotes de DCAF17 responsables du syndrome de Woodhouse-Sakati : une association fortuite ?
Journées dermatologiques de Paris 2023   01 décembre 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Research square   29 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
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
Journal of medical genetics   26 juillet 2023