G. Raux

发表

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

D. Campion, D. Hannequin, A. Brice, 2006, Nature Genetics.

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

B. Dubois, D. Campion, D. Hannequin, 1999, American journal of human genetics.

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

D. Campion, T. Frebourg, S. Louchart, 2002, Molecular Psychiatry.

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

D. Campion, T. Frebourg, F. Thibaut, 2004, Molecular Psychiatry.

Pemphigus is not associated with allotypic markers of immunoglobulin kappa

M. Mokni, G. Raux, H. Turki, 2002, Genes and Immunity.

A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease

G. Raux, L. Drouot, F. Tron, 2001, Genes and Immunity.

Variations in the APP gene promoter region and risk of Alzheimer disease

J. Lambert, P. Amouyel, D. Campion, 2007, Neurology.

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

Alain Calender, Laurence Faivre, E. Babin, 2006, Human mutation.

A simple method for the routine detection of somatic quantitative genetic alterations in colorectal cancer.

T. Frebourg, F. Blanchard, J. Sabourin, 2007, Gastroenterology.

Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update

D. Campion, D. Hannequin, A. Brice, 2005, Journal of Medical Genetics.

Very early onset AD with a de novo mutation in the presenilin 1 gene (Met 233 Leu)

J. Hauw, J. Touchon, D. Campion, 2003, Neurology.

Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

D. Campion, D. Hannequin, A. Brice, 2000, Neurology.

Mutations in the neuroserpin gene are rare in familial dementia

Y. Agid, B. Dubois, D. Hannequin, 2000 .

Comparison of a quantitative PCR method with FISH for the assessment of the four aneuploidies commonly evaluated in CLL patients

S. Leprêtre, H. Tilly, T. Frebourg, 2007, Leukemia.

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.

D. Campion, A. Brice, T. Frebourg, 2000, Human mutation.

Acd, a peptidoglycan hydrolase of Clostridium difficile with N-acetylglucosaminidase activity.

G. Raux, P. Courtin, M. Chapot-Chartier, 2005, Microbiology.

IGHV3-Associated Restriction Fragment Length Polymorphisms Confer Susceptibility to Bullous Pemphigoid

M. Lefranc, J. Roujeau, G. Raux, 2001, Experimental and Clinical Immunogenetics.

Association of KM genotype with bullous pemphigoid.

M. Daveau, G. Raux, F. Tron, 2000, Journal of autoimmunity.

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.

D. Campion, T. Frebourg, J. Bou, 2002, Human molecular genetics.

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.

N. Drouot, J. Saurin, T. Frebourg, 2000, Cancer research.

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

T. van Amelsvoort, D. Campion, D. Hannequin, 2007, Human molecular genetics.

Hyperprolinemia is a risk factor for schizoaffective disorder

D. Campion, S. Dollfus, T. Frebourg, 2005, Molecular Psychiatry.

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene

D. Campion, T. Frebourg, D. Bonneau, 2003, Journal of medical genetics.

Analysis of the allele‐specific expression of the mismatch repair gene MLH1 using a simple DHPLC‐Based Method

D. Stoppa-Lyonnet, T. Frebourg, Qing Wang, 2004, Human mutation.

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

F. Rivier, C. Philippe, P. Jonveaux, 2006, European journal of medical genetics.

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

T. Frebourg, A. Chompret, G. Bougeard, 2003, Oncogene.

Comparison of Structural Characteristics of Antisubnucleosome and Anti‐DNA Monoclonal Antibodies Derived from Lupus Mice a

G. Raux, F. Tron, D. Gilbert, 1997, Annals of the New York Academy of Sciences.

Severe myoclonus‐dystonia syndrome associated with a novel epsilon‐sarcoglycan gene truncating mutation

D. Campion, D. Hannequin, T. Frebourg, 2003, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics.

A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24.

A. Delacourte, C. Duyckaerts, D. Campion, 2004, Brain : a journal of neurology.

A non-DM 1 , non-DM 2 multisystem myotonic disorder with frontotemporal dementia : phenotype and suggestive mapping of the DM 3 locus to chromosome 15 q 21-24

A. Delacourte, C. Duyckaerts, D. Campion, 2004 .

A novel presenilin 1 missense mutation (L153V) segregating with early‐onset autosomal dominant Alzheimer's disease

D. Campion, A. Brice, T. Frebourg, 2000 .

APOE promoter polymorphisms do not confer independent risk for Alzheimer's disease in a French population

D. Campion, D. Hannequin, A. Brice, 2000, European Journal of Human Genetics.

France Strategy Using Pooled DNA to Identify 56 Short Tandem Repeat Polymorphisms for the Bolivian Squirrel Monkey

G. Raux, F. Tron, D. Gilbert, 2022 .