C. Martin

发表

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

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

Alternative splicing of MLH1 messenger RNA in human normal cells.

T. Frebourg, M. Scotté, Cosette Martin, 1995, Cancer research.

R. Iggo, T. Frebourg, R. Iggo, 1994, Nucleic acids research.

A simple p 53 functional assay for screening cell lines , blood , and tumors ( tumor-suppressor gene / Li-Fraumeni syndrome / transcription factor / mutation detection / ADE 2 gene )

Erwin G. Van Meir, M. Tada, J. Benhattar, 2022 .

High frequency in esophageal cancers of p53 alterations inactivating the regulation of genes involved in cell cycle and apoptosis.

P. Michel, C. Martin, F. Charbonnier, 2000, Carcinogenesis.

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

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

Ataxic variant of Alzheimer’s disease caused by Pro117Ala PSEN1 mutation

D. Campion, D. Hannequin, C. Boulay, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex.

Y. Agid, B. Dubois, F. Pasquier, 1997, American journal of human genetics.

No eVect of the á1-antichymotrypsin A allele in Alzheimer’s disease

Y. Agid, F. Pasquier, D. Campion, 1998 .

The NACP/synuclein gene: chromosomal assignment and screening for alterations in Alzheimer disease.

R. Heilig, D. Campion, D. Hannequin, 1995, Genomics.

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

Miguel Ángel Martínez, Y. Agid, D. Campion, 1998, Journal of medical genetics.

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.

A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French‐Canadian population

L. Carmant, E. Andermann, P. Cossette, 2014, Clinical genetics.

The three nucleotide deletion within the 3′untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome

S. Vasseur, E. Bouvignies, J. Tinat, 2008, Familial Cancer.

Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS families

C. Bonaïti‐pellié, D. Stoppa-Lyonnet, A. Chompret, 2008, Journal of Medical Genetics.

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

Y. Agid, B. Dubois, D. Campion, 1998, Human molecular genetics.

A simple p53 functional assay for screening cell lines, blood, and tumors.

P. Chappuis, J. Benhattar, A. Sappino, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria.

J. Deybach, H. Puy, G. Elder, 2001, American journal of human genetics.

Interaction Between Two Quantitative Trait Loci Affects Fetal Haemoglobin Expression

S. Thein, S. Menzel, C. Garner, 2005, Annals of human genetics.

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

B. Dubois, D. Campion, D. Hannequin, 1995, Human molecular genetics.

Phenotype-genotype correlations in X linked retinitis pigmentosa.

P. Lefrançois, D. Bonneau, C. Martin, 1992, Journal of medical genetics.

Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer

M Vekemans, M. Lovett, E. Jabs, 2005, Journal of Medical Genetics.

Presenilins interact with Rab11, a small GTPase involved in the regulation of vesicular transport.

D. Campion, B. Goud, C. Czech, 1999, Human molecular genetics.

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC

A. Lindblom, T. Frebourg, Qing Wang, 2004, Journal of Medical Genetics.

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

C. Bonaïti‐pellié, C. Bonaiti-Pellié, D. Stoppa-Lyonnet, 2005, Journal of Medical Genetics.

Selective detection of inactivating mutations of the tumor suppressor gene p53 in bladder tumors.

Cosette Martin, C. Martin, P. Grise, 1999, The Journal of urology.

Somatic Mutations in Renal Cyst Epithelium in Autosomal Dominant Polycystic Kidney Disease.

S. Kapur, H. Rennert, J. Blumenfeld, 2018, Journal of the American Society of Nephrology : JASN.

Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex.

Miguel Ángel Martínez, Y Agid, Y. Agid, 1997, American journal of human genetics.

No founder effect in three novel Alzheimer's disease families with APP 717 Val-->Ile mutation. Clerget-darpoux. French Alzheimer's Disease Study Group.

Miguel Ángel Martínez, Y. Agid, B. Dubois, 1996, Journal of medical genetics.

Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer.

T. Frebourg, J. Limacher, Cosette Martin, 1996, Cancer research.

A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years.

Y. Agid, M. Baulac, C. Duyckaerts, 1996, Neuroreport.

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

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

No e V ect of the á 1-antichymotrypsin A allele in Alzheimer ’ s disease

Y. Agid, B. Dubois, F. Pasquier, 1998 .

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.

Detection of 11 germline inactivating TP53 mutations and absence of TP63 andHCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

O. Delattre, D. Stoppa-Lyonnet, J. Limacher, 2001, Journal of medical genetics.