APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Anne Rovelet‐Lecrux, Didier Hannequin, Grégory Raux, +10

Nature Genetics

Alzheimer's DiseaseCerebral Amyloid AngiopathyDementiaNeurochemical BiomarkersNeurology +7

Early-Onset Autosomal Dominant Alzheimer Disease: Prevalence, Genetic Heterogeneity, and Mutation Spectrum

Dominique Campion, Cécile Dumanchin, Didier Hannequin, +15

The American Journal of Human Genetics

Alzheimer's DiseaseDementiaGeneticsVascular DementiaGenetic Heterogeneity +6

Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments.

F. Charbonnier, Grégory Raux, Qing Wang, +7

PubMed

EngineeringGeneticsPathologyShort Fluorescent FragmentsDisease Gene Identification +15

Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome

Grégory Raux, Emilie Bumsel, B. Hecketsweiler, +32

Human Molecular Genetics

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

Grégory Raux, René Gantier, C. Thomas-Antérion, +6

Neurology

NeuropsychologyProminent Frontotemporal FeaturesCorticobasal DegenerationGeneticsNeuropsychiatry +19

Hyperprolinemia is a risk factor for schizoaffective disorder

Hélène Jacquet, Caroline Demily, B. Hecketsweiler, +16

Molecular Psychiatry

Risk PredictionPsychiatryPsychotic DisorderSchizophreniaNeuropsychiatry +7

The −2 bp deletion in exon 6 of the ‘alpha 7-like’ nicotinic receptor subunit gene is a risk factor for the P50 sensory gating deficit

Grégory Raux, Frédérique Bonnet‐Brilhault, Sandy Louchart, +9

Molecular Psychiatry

Synaptic PlasticityMolecular PhysiologyMolecular Neuroscience−2 Bp DeletionNeurophysiology +11

Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients

Gaëtan Lesca, Nelly Burnichon, Grégory Raux, +12

Human Mutation

Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene

Gaëlle Bougeard, Laurence Brugières, Agnès Chompret, +8

Oncogene

Genetic DisorderMedicineGeneticsPathologyMolecular Genetics +4

The promoter −194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit

Grégory Raux, Florence Thibaut, Angélique Belmont, +7

Molecular Psychiatry

Molecular PhysiologyMolecular NeuroscienceP50 SensoryNicotineGenetics +10