Cosette Martin

发表

2009 version of the Chompret criteria for Li Fraumeni syndrome.

Catherine Bonaïti-Pellié, Dominique Stoppa-Lyonnet, Stéphanie Baert-Desurmont, 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndrome

T. Frebourg, Cosette Martin, N. Meur, 2004, European Journal of Human Genetics.

Alternative Splicing of MLH 1 Messenger RNA in Human Normal Cells 1

T. Frebourg, M. Scotté, Cosette Martin, 2006 .

Cells Messenger RNA in Human Normal MLH 1 Alternative Splicing of Updated

T. Frebourg, M. Scotté, Cosette Martin, 2006 .

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques

C. Duyckaerts, D. Campion, D. Hannequin, 2006, Human mutation.

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

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

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer

T. Frebourg, Qing Wang, S. Olschwang, 2007, European Journal of Human Genetics.

MSH 2 in Contrast to MLH 1 and MSH 6 Is Frequently Inactivated by Exonic and Promoter Rearrangements in Hereditary Nonpolyposis Colorectal Cancer 1

T. Frebourg, A. Puisieux, Qing Wang, 2002 .

Association study between schizophrenia and monoamine oxidase A and B DNA polymorphisms

J. Mallet, D. Campion, S. Dollfus, 1996, Psychiatry Research.

Early onset brain tumor and lymphoma in MSH2-deficient children.

N. Drouot, T. Frebourg, G. Bougeard, 2003, American journal of human genetics.

No association of apolipoprotein epsilon 4 allele with schizophrenia even in cognitively impaired patients

D. Campion, D. Hannequin, S. Dollfus, 1998, Schizophrenia Research.

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.

T. Frebourg, A. Puisieux, Qing Wang, 2002, Cancer research.

The 5′ region of the MSH2 gene involved in hereditary non‐polyposis colorectal cancer contains a high density of recombinogenic sequences

A. Lindblom, T. Frebourg, Qing Wang, 2005, Human mutation.

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.

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.

Diversity of the clinical presentation of the MMR gene biallelic mutations

T. Frebourg, S. Vasseur, E. Bouvignies, 2014, Familial Cancer.

Identification of novel L1CAM mutations using fluorescence‐assisted mismatch analysis

A. Munnich, N. Philip, N. Le Meur, 1998, Human mutation.

No effect of the α1-antichymotrypsin A allele in Alzheimer’s disease

Y. Agid, B. Dubois, F. Pasquier, 1997 .

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

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

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 rapid PCR fidelity assay.

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

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.

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.

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.

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.

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

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

Age and Sex

Miguel Ángel Martínez, D. Campion, D. Hannequin, 2006 .

Alternative splicing of MLH1 messenger RNA in human normal cells.

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

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

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

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

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