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Screening for TP53 rearrangements in families with the Li–Fraumeni syndrome reveals a complete deletion of the TP53 gene.
Published in:
Oncogene, 2003, v. 22, n. 6, p. 840, doi. 10.1038/sj.onc.1206155
By:
- Bougeard, Gaëlle;
- Brugières, Laurence;
- Chompret, Agnès;
- Gesta, Paul;
- Charbonnier, Françoise;
- Valent, Alexander;
- Martin, Cosette;
- Raux, Grégory;
- Feunteun, Jean;
- Paillerets, Brigitte Bressac-de;
- Frébourg, Thierry
Publication type:
Article
Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 3, p. 383, doi. 10.1038/sj.ejhg.5201765
By:
- Baert-Desurmont, Stephanie;
- Buisine, Marie-Pierre;
- Bessenay, Emilie;
- Frerot, Stephanie;
- Lovecchio, Tonio;
- Martin, Cosette;
- Olschwang, Sylviane;
- Qing Wang;
- Frebourg, Thierry
Publication type:
Article
Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 5, p. 415, doi. 10.1038/sj.ejhg.5201155
By:
- Le Meur, Nathalie;
- Martin, Cosette;
- Saugier-Veber, Pascale;
- Joly, Géraldine;
- Lemoine, Françose;
- Moirot, Hélène;
- Rossi, Annick;
- Bachy, Bruno;
- Cabot, Annick;
- Joly, Pascal;
- Frébourg, Thierry
Publication type:
Article
High frequency in esophageal cancers of p53 alterations inactivating the regulation of genes involved in cell cycle and apoptosis.
Published in:
Carcinogenesis, 2000, v. 21, n. 4, p. 563, doi. 10.1093/carcin/21.4.563
By:
- Robert, Valérie;
- Michel, Pierre;
- Flaman, Jean Michel;
- Chiron, Anne;
- Martin, Cosette;
- Charbonnier, Francoise;
- Paillot, Bernard;
- Frebourg, Thierry
Publication type:
Article
Diversity of the clinical presentation of the MMR gene biallelic mutations.
Published in:
Familial Cancer, 2014, v. 13, n. 1, p. 131, doi. 10.1007/s10689-013-9676-1
By:
- Bougeard, Gaëlle;
- Olivier-Faivre, Laurence;
- Baert-Desurmont, Stéphanie;
- Tinat, Julie;
- Martin, Cosette;
- Bouvignies, Emilie;
- Vasseur, Stéphanie;
- Huet, Frédéric;
- Couillault, Gérard;
- Vabres, Pierre;
- Le Pessot, Florence;
- Chapusot, Caroline;
- Malka, David;
- Bressac-de Paillerets, Brigitte;
- Tosi, Mario;
- Frebourg, Thierry
Publication type:
Article
Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.
Published in:
Human Mutation, 2006, v. 27, n. 10, p. 1063, doi. 10.1002/humu.9458
By:
- Dumanchin, Cecile;
- Tournier, Isabelle;
- Martin, Cosette;
- Didic, Mira;
- Belliard, Serge;
- Carlander, Bertrand;
- Rouhart, François;
- Duyckaerts, Charles;
- Pellissier, Jean-François;
- Latouche, Jean Baptiste;
- Hannequin, Didier;
- Frebourg, Thierry;
- Tosi, Mario;
- Campion, Dominique
Publication type:
Article
The 5′ region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.
Published in:
Human Mutation, 2005, v. 26, n. 3, p. 255, doi. 10.1002/humu.20216
By:
- Charbonnier, Françoise;
- Baert-Desurmont, Stephanie;
- Liang, Ping;
- Di Fiore, Frederic;
- Martin, Cosette;
- Frerot, Stephanie;
- Olschwang, Sylviane;
- Wang, Qing;
- Buisine, Marie-Pierre;
- Gilbert, Brigitte;
- Nilbert, Mef;
- Lindblom, Annika;
- Frebourg, Thierry
Publication type:
Article
Analysis of the allele-specific expression of the mismatch repair gene MLH1 using a simple DHPLC-Based Method.
Published in:
Human Mutation, 2004, v. 23, n. 4, p. 379, doi. 10.1002/humu.20008
By:
- Tournier, Isabelle;
- Raux, Grégory;
- Fiore, Fréderic Di;
- Maréchal, Isabelle;
- Leclerc, Carole;
- Martin, Cosette;
- Wang, Qing;
- Buisine, Marie-Pierre;
- Stoppa-Lyonnet, Dominique;
- Olschwang, Sylviane;
- Frébourg, Thierry;
- Tosi, Mario
Publication type:
Article
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.
Published in:
Human Mutation, 1998, v. 12, n. 4, p. 259, doi. 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A
By:
- Saugier-Veber, Pascale;
- Martin, Cosette;
- Le Meur, Nathalie;
- Lyonnet, Stanislas;
- Munnich, Arnold;
- David, Albert;
- Hénocq, Alain;
- Héron, Delphine;
- Jonveaux, Philippe;
- Odent, Sylvie;
- Manouvrier, Sylvie;
- Moncla, Anne;
- Morichon, Nicole;
- Philip, Nicole;
- Satge, Daniel;
- Tosi, Mario;
- Frébourg, T
Publication type:
Article
Presenilins interact with Rab 11, a small GTPase involved in the regulation of vesicular transport.
Published in:
Human Molecular Genetics, 1999, v. 8, n. 7, p. 1263, doi. 10.1093/hmg/8.7.1263
By:
- Dumanchin, Cecile;
- Czech, Christian;
- Campion, Dominique;
- Cuif, Marie Helene;
- Poyot, Thomas;
- Martin, Cosette;
- Charbonnier, Francoise;
- Goud, Bruno;
- Pradier, Laurent;
- Frebourg, Thierry
Publication type:
Article
Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.
Published in:
Human Molecular Genetics, 1998, v. 7, n. 11, p. 1825, doi. 10.1093/hmg/7.11.1825
By:
- Dumanchin, Cécile;
- Camuzat, Agnès;
- Campion, Dominique;
- Verpillat, Patrice;
- Hannequin, Didier;
- Dubois, Bruno;
- Saugier‐Veber, Pascale;
- Martin, Cosette;
- Penet, Christiane;
- Charbonnier, Françoise;
- Agid, Yves;
- Frebourg, Thierry;
- Brice, Alexis
Publication type:
Article
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
Published in:
Human Molecular Genetics, 1995, v. 4, n. 12, p. 2373
By:
- Campion, Dominique;
- Flaman, Jean-Michel;
- Brice, Alexis;
- Hannequin, Didier;
- Dubois, Bruno;
- Martin, Cosette;
- Moreau, Viviane;
- Charbonnier, Françoise;
- Didierjean, Olivier;
- Tardieu, Sandrine;
- Penet, Christiane;
- Puel, Michèle;
- Pasquier, Florence;
- Le Doze, François;
- Bellis, Gil;
- Calenda, Alphonse;
- Heilig, Roland;
- Martinez, Maria;
- Mallet, Jacques;
- Bellis, Michel
Publication type:
Article

Found: 12