Publications by authors named "Cosette Martin"

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Diversity of the clinical presentation of the MMR gene biallelic mutations.
Gaëlle Bougeard, Laurence Olivier-Faivre, Stéphanie Baert-Desurmont, Julie Tinat, Cosette Martin

Fam Cancer· March 2014

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2009 version of the Chompret criteria for Li Fraumeni syndrome.
Julie Tinat, Gaelle Bougeard, Stéphanie Baert-Desurmont, Stéphanie Vasseur, Cosette Martin

J Clin Oncol· September 2009

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Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.
Stephanie Baert-Desurmont, Marie-Pierre Buisine, Emilie Bessenay, Stephanie Frerot, Tonio Lovecchio, Cosette Martin

Eur J Hum Genet· March 2007

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Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
Cecile Dumanchin, Isabelle Tournier, Cosette Martin, Mira Didic, Serge Belliard

Hum Mutat· October 2006

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The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.
Françoise Charbonnier, Stephanie Baert-Desurmont, Ping Liang, Frederic Di Fiore, Cosette Martin

Hum Mutat· September 2005

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Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.
Nathalie Le Meur, Cosette Martin, Pascale Saugier-Veber, Géraldine Joly, Françoise Lemoine

Eur J Hum Genet· May 2004

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Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method.
Isabelle Tournier, Grégory Raux, Fréderic Di Fiore, Isabelle Maréchal, Carole Leclerc, Cosette Martin

Hum Mutat· April 2004

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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, Paul Gesta, Françoise Charbonnier, Cosette Martin

Oncogene· February 2003

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Early onset brain tumor and lymphoma in MSH2-deficient children.
Gaëlle Bougeard, Françoise Charbonnier, Alexandre Moerman, Cosette Martin, Marie M Ruchoux

Am J Hum Genet· January 2003

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MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer.
Françoise Charbonnier, Sylviane Olschwang, Qing Wang, Cécile Boisson, Cosette Martin

Cancer Res· February 2002

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