Contribution of de novo and mosaic

Autor: Mariette, Renaux-Petel, Françoise, Charbonnier, Jean-Christophe, Théry, Pierre, Fermey, Gwendoline, Lienard, Jacqueline, Bou, Sophie, Coutant, Myriam, Vezain, Edwige, Kasper, Steeve, Fourneaux, Sandrine, Manase, Maud, Blanluet, Bruno, Leheup, Ludovic, Mansuy, Jacqueline, Champigneulle, Céline, Chappé, Michel, Longy, Nicolas, Sévenet, Brigitte Bressac-de, Paillerets, Léa, Guerrini-Rousseau, Laurence, Brugières, Olivier, Caron, Jean-Christophe, Sabourin, Isabelle, Tournier, Stéphanie, Baert-Desurmont, Thierry, Frébourg, Gaëlle, Bougeard

Publikováno v: Journal of medical genetics. 55(3)

Development of tumours such as adrenocortical carcinomas (ACC), choroid plexus tumours (CPT) or female breast cancers before age 31 or multiple primary cancers belonging to the Li-Fraumeni (LFS) spectrum is, independently of the familial history, hig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7c99e210b07586de54f4bd54ca878593
https://pubmed.ncbi.nlm.nih.gov/29070607

Genetic heterogeneity versus molecular analysis of prion susceptibility in neuroblasma N2a sublines

Autor: Yonghua Zhang, Maxime Belondrade, Jacques Callebert, Josette Catalan, Janice Britton-Davidian, Nicolas Sévenet, Monique Provansal, Jean-Louis Laplanche, Stéphanie Chasseigneaux, Marc-Henri Stern, Danielle Casanova, Alexander Bürkle, Elodie Manié, Sylvain Lehmann, Manuela Pastore

Publikováno v: Archives of Virology
Archives of Virology, Springer Verlag, 2008, 153 (9), pp.163-1702. ⟨10.1007/s00705-008-0177-8⟩

The neuroblastoma-derived cell line N2a is permissive to certain prion strains but resistant sublines unable to accumulate the pathological proteinase-K resistant form of the prion protein can be isolated. We compared for gene expression and phenotyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33f3166cfe35fa95a3480c4f31647a1a
https://pubmed.ncbi.nlm.nih.gov/18696008

A new hybrid record linkage process to make epidemiological databases interoperable: application to the GEMO and GENEPSO studies involving BRCA1 and BRCA2 mutation carriers

Autor: Jiao, Yue, Lesueur, Fabienne, Azencott, Chloé-Agathe, Laurent, Maïté, Mebirouk, Noura, Laborde, Lilian, Beauvallet, Juana, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Laugé, Anthony, Noguès, Catherine, Andrieu, Nadine, Stoppa-Lyonnet, Dominique, Caputo, Sandrine, Boutry-Kryza, Nadia, Calender, Alain, Giraud, Sophie, Léone, Mélanie, Bressac- de Paillerets, Brigitte, Caron, Olivier, Guillaud-Bataille, Marine, Bignon, Yves-Jean, Uhrhammer, Nancy, Bonadona, Valérie, Lasset, Christine, Berthet, Pascaline, Castera, Laurent, Vaur, Dominique, Bourdon, Violaine, Noguchi, Tetsuro, Popovici, Cornel, Remenieras, Audrey, Sobol, Hagay, Coupier, Isabelle, Harmand, Pierre-Olivier, Pujol, Pascal, Vilquin, Paul, Dumont, Aurélie, Révillion, Françoise, Muller, Danièle, Barouk-Simonet, Emmanuelle, Bonnet, Françoise, Bubien, Virginie, Longy, Michel, Sevenet, Nicolas, Gladieff, Laurence, Guimbaud, Rosine, Feillel, Viviane, Toulas, Christine, Dreyfus, Hélène, Leroux, Dominique, Peysselon, Magalie, Rebischung, Christine, Baurand, Amandine, Bertolone, Geoffrey, Coron, Fanny, Faivre, Laurence, Goussot, Vincent, Jacquot, Caroline, Sawka, Caroline, Kientz, Caroline, Lebrun, Marine, Prieur, Fabienne, Fert-Ferrer, Sandra, Mari, Véronique, Venat-Bouvet, Laurence, Bézieau, Stéphane, Delnatte, Capucine, Mortemousque, Isabelle, Coulet, Florence, Soubrier, Florent, Warcoin, Mathilde, Bronner, Myriam, Lizard, Sarab, Sokolowska, Johanna, Collonge-Rame, Marie-Agnès, Damette, Alexandre, Gesta, Paul, Lallaoui, Hakima, Chiesa, Jean, Molina-Gomes, Denise, Ingster, Olivier, Manouvrier-Hanu, Sylvie, Lejeune, Sophie, Pontois, Pauline, Lyonnet, Dominique Stoppa, Gauthier-Villars, Marion, Buecher, Bruno, Mouret-Fourme, Emmanuelle, Fricker, Jean-Pierre, Luporsi, Elisabeth, Frenay, Marc, Eisinger, Francois, Moretta, Jessica, Dugast, Catherine, Colas, Chrystelle, Lortholary, Alain, Vennin, Philippe, Adenis, Claude, Nguyen, Tan Dat, Rossi, Annick, Tinat, Julie, Tennevet, Isabelle, Limacher, Jean-Marc, Maugard, Christine, Bignon, Jean-Yves, Demange, Liliane, Cohen-Haguenauer, Odile, Gilbert, Brigitte, Zattara-Cannoni, Hélène

Publikováno v: BMC Medical Research Methodology
BMC Medical Research Methodology, BioMed Central, 2021, 21 (1), pp.155. ⟨10.1186/s12874-021-01299-6⟩
BMC Medical Research Methodology, 2021, 21 (1), pp.155. ⟨10.1186/s12874-021-01299-6⟩
BMC Medical Research Methodology, Vol 21, Iss 1, Pp 1-11 (2021)

Background Linking independent sources of data describing the same individuals enable innovative epidemiological and health studies but require a robust record linkage approach. We describe a hybrid record linkage process to link databases from two i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be32ee1e1fdd7a8c91374aff36cb5f65
https://www.hal.inserm.fr/inserm-03313811/document