Kolexia
Guichet Agnes Génétique médicale
Guichet Agnes
Génétique médicale
Hôpital Larrey Angers
Angers, France
63 Activités
73 Followers
Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Microcéphalie Prédisposition génétique à une maladie Infertilité masculine Hypophosphatasie Aberrations des chromosomes Maladies auto-immunes Maladies mitochondriales

Collaborateurs

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Bonneau Dominique
Bonneau Dominique
Hôpital Larrey Angers, Angers, France
Colin Estelle
Colin Estelle
Université d'Angers, Angers, France
Ziegler Alban
Ziegler Alban
American Memorial Hospital Chu Reims, Reims, France
Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France

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Dernières activités

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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
First report on chromosomal abnormalities in Eastern Morocco: Identification of a new case of a de novo partial trisomy 13q using single-nucleotide polymorphism array.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie   22 janvier 2024
Optical Genome Mapping. Contribution to the Etiological Diagnosis of Developmental disorders : experience of the Nantes Genetic Department on over 60 individuals
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
AnDDI-prenatome - the French national project of prenatal trio exome sequencing: 43% of diagnostic yield in 28 days with 80% pregnancy care changes
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
Journal of genetics and genomics = Yi chuan xue bao   26 avril 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Frontiers in genetics   23 mars 2023
Syndrome de duplication 15q
HAS Publications   13 décembre 2022
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
American journal of human genetics   10 novembre 2022
Clinical phenotype associated with ARID2 pathogenic variants: a report of twelve new cases and literature review
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022