Kolexia
Laquerriere Annie
Anatomie et cytologie
Hôpital Charles Nicolle
Rouen, France
167 Activités
53 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Tumeurs du cerveau Microcéphalie Troubles du spectre de l'alcoolisation foetale Glioblastome Maladie d'Alzheimer Arthrogrypose Effets différés de l'exposition prénatale à des facteurs de risque Maladies musculaires Malformations multiples

Industries

Ultragenyx
1 collaboration(s)
Dernière en 2018
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

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
Expression of placental CD146 is dysregulated by prenatal alcohol exposure and contributes in cortical vasculature development and positioning of vessel-associated oligodendrocytes.
Frontiers in cellular neuroscience   10 janvier 2024
Intégration des données histo-pathologiques, biochimiques et génomiques dans le diagnostic des mitochondrio-pathies
Congrès AM/CHEC 2023   01 décembre 2023
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
European journal of medical genetics   25 septembre 2023
Prenatal Alcohol Exposure Impairs the Placenta-Cortex Transcriptomic Signature, Leading to Dysregulation of Angiogenic Pathways.
International journal of molecular sciences   30 août 2023
DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.
Clinical genetics   11 juillet 2023
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Brain : a journal of neurology   02 juin 2023
Phenotype and imaging features associated with APP duplications.
Alzheimer's research & therapy   11 mai 2023
GLIOPLAK: Impact of the Platelet Level During Radiotherapy Associated With Temozolomide in Patients Treated for Glioblastoma
Essai Clinique (Centre Henri-Becquerel)   02 mai 2023
Recessive PRDM13 mutations cause severe brainstem dysfunction with perinatal lethality, cerebellar hypoplasia and disrupt Purkinje cell differentiation
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023