TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?
BONAITI, Bernard, OLSSON, Malin, HELLMAN, Urban, SUHR, Ole, BONAÏTI-PELLIE, Catherine, PLANTE-BORDENEUVE, Violaine
Published in European journal of human genetics : EJHG (01.08.2010)
Published in European journal of human genetics : EJHG (01.08.2010)
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Drastic Effect of Germline TP53 Missense Mutations in Li-Fraumeni Patients
Zerdoumi, Yasmine, Aury-Landas, Juliette, Bonaïti-Pellié, Catherine, Derambure, Céline, Sesboüé, Richard, Renaux-Petel, Mariette, Frebourg, Thierry, Bougeard, Gaëlle, Flaman, Jean-Michel
Published in Human mutation (01.03.2013)
Published in Human mutation (01.03.2013)
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Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers
Bougeard, Gaëlle, Renaux-Petel, Mariette, Flaman, Jean-Michel, Charbonnier, Camille, Fermey, Pierre, Belotti, Muriel, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Consolino, Emilie, Brugières, Laurence, Caron, Olivier, Benusiglio, Patrick R, Bressac-de Paillerets, Brigitte, Bonadona, Valérie, Bonaïti-Pellié, Catherine, Tinat, Julie, Baert-Desurmont, Stéphanie, Frebourg, Thierry
Published in Journal of clinical oncology (20.07.2015)
Published in Journal of clinical oncology (20.07.2015)
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Estimating cancer risk in HNPCC by the GRL method
ALARCONL, Flora, LASSET, Christine, CARAYOL, Jérome, BONADONA, Valérie, PERDRY, Hervé, DESSEIGNE, Francoise, QING WANG, BONAÏTI-PELLIE, Catherine
Published in European journal of human genetics : EJHG (01.08.2007)
Published in European journal of human genetics : EJHG (01.08.2007)
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Journal Article
Parent-of-origin effect in transthyretin related amyloid polyneuropathy
Bonaïti, Bernard, Alarcon, Flora, Bonaïti-Pellié, Catherine, Planté-Bordeneuve, Violaine
Published in Amyloid (2009)
Published in Amyloid (2009)
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Estimating penetrance from multiple case families with predisposing mutations: extension of the 'genotype-restricted likelihood' (GRL) method
BONAÏTI, Bernard, BONADONA, Valérie, PERDRY, Hervé, ANDRIEU, Nadine, BONAÏTI-PELLIE, Catherine
Published in European journal of human genetics : EJHG (01.02.2011)
Published in European journal of human genetics : EJHG (01.02.2011)
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Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome
Bonadona, Valérie, Bonaïti, Bernard, Olschwang, Sylviane, Grandjouan, Sophie, Huiart, Laetitia, Longy, Michel, Guimbaud, Rosine, Buecher, Bruno, Bignon, Yves-Jean, Caron, Olivier, Colas, Chrystelle, Noguès, Catherine, Lejeune-Dumoulin, Sophie, Olivier-Faivre, Laurence, Polycarpe-Osaer, Florence, Nguyen, Tan Dat, Desseigne, Françoise, Saurin, Jean-Christophe, Berthet, Pascaline, Leroux, Dominique, Duffour, Jacqueline, Manouvrier, Sylvie, Frébourg, Thierry, Sobol, Hagay, Lasset, Christine, Bonaïti-Pellié, Catherine, French Cancer Genetics Network, for the
Published in JAMA : the journal of the American Medical Association (08.06.2011)
Published in JAMA : the journal of the American Medical Association (08.06.2011)
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Genetic polymorphisms of the XPG and XPD nucleotide excision repair genes in sarcoma patients
Le Morvan, Valérie, Longy, Michel, Bonaïti‐Pellié, Catherine, Bui, Binh, Houédé, Nadine, Coindre, Jean‐Michel, Robert, Jacques, Pourquier, Philippe
Published in International journal of cancer (01.10.2006)
Published in International journal of cancer (01.10.2006)
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2009 version of the Chompret criteria for Li Fraumeni syndrome
Tinat, Julie, Bougeard, Gaelle, Baert-Desurmont, Stéphanie, Vasseur, Stéphanie, Martin, Cosette, Bouvignies, Emilie, Caron, Olivier, Bressac-de Paillerets, Brigitte, Berthet, Pascaline, Dugast, Catherine, Bonaïti-Pellié, Catherine, Stoppa-Lyonnet, Dominique, Frébourg, Thierry
Published in Journal of clinical oncology (10.09.2009)
Published in Journal of clinical oncology (10.09.2009)
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Genetic epidemiology of neuroblastoma: A study of 426 cases at the Institut Gustave-Roussy in France
Shojaei-Brosseau, Taraneh, Chompret, Agnès, Abel, Anne, de Vathaire, Florent, Raquin, Marie-Anne, Brugières, Laurence, Feunteun, Jean, Hartmann, Olivier, Bonaïti-Pellié, Catherine
Published in Pediatric Blood & Cancer (01.01.2004)
Published in Pediatric Blood & Cancer (01.01.2004)
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Surface microbial consortia from Livarot, a French smear-ripened cheese
LARPIN-LABORDE, Sandra, IMRAN, Muhammad, SWINGS, Jean, SCHERER, Siegfried, GUEGUEN, Micheline, DESMASURES, Nathalie, BONAÏTI, Catherine, BORA, Nagamani, GELSOMINO, Roberto, GOERGES, Stefanie, IRLINGER, Frangoise, GOODFELLOW, Michael, WARD, Alan C, VANCANNEYT, Marc
Published in Canadian journal of microbiology (01.08.2011)
Published in Canadian journal of microbiology (01.08.2011)
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Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors
Castanet, Mireille, Polak, Michel, Bonaïti-Pellié, Catherine, Lyonnet, Stanislas, Czernichow, Paul, Léger, Juliane
Published in The journal of clinical endocrinology and metabolism (01.05.2001)
Published in The journal of clinical endocrinology and metabolism (01.05.2001)
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Colonoscopic screening of first-degree relatives of patients with large adenomas: increased risk of colorectal tumors
Cottet, Vanessa, Pariente, Alexandre, Nalet, Bernard, Lafon, Jacques, Milan, Chantal, Olschwang, Sylviane, Bonaiti-Pellié, Catherine, Faivre, Jean, Bonithon-Kopp, Claire
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2007)
Published in Gastroenterology (New York, N.Y. 1943) (01.10.2007)
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A new scoring system in cancer genetics: application to criteria for BRCA1 and BRCA2 mutation screening
Bonaïti, Bernard, Alarcon, Flora, Andrieu, Nadine, Bonadona, Valérie, Dondon, Marie-Gabrielle, Pennec, Sophie, Stoppa-Lyonnet, Dominique, Bonaïti-Pellié, Catherine, Perdry, Hervé
Published in Journal of medical genetics (01.02.2014)
Published in Journal of medical genetics (01.02.2014)
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Genome-wide linkage screen for testicular germ cell tumour susceptibility loci
Crockford, Gillian P., Linger, Rachel, Hockley, Sarah, Dudakia, Darshna, Johnson, Lola, Huddart, Robert, Tucker, Kathy, Friedlander, Michael, Phillips, Kelly-Anne, Hogg, David, Jewett, Michael A.S., Lohynska, Radka, Daugaard, Gedske, Richard, Stéphane, Chompret, Agnes, Bonaïti-Pellié, Catherine, Heidenreich, Axel, Albers, Peter, Olah, Edith, Geczi, Lajos, Bodrogi, Istvan, Ormiston, Wilma J., Daly, Peter A., Guilford, Parry, Fosså, Sophie D., Heimdal, Ketil, Tjulandin, Sergei A., Liubchenko, Ludmila, Stoll, Hans, Weber, Walter, Forman, David, Oliver, Timothy, Einhorn, Lawrence, McMaster, Mary, Kramer, Joan, Greene, Mark H., Weber, Barbara L., Nathanson, Katherine L., Cortessis, Victoria, Easton, Douglas F., Bishop, D. Timothy, Stratton, Michael R., Rapley, Elizabeth A.
Published in Human molecular genetics (01.02.2006)
Published in Human molecular genetics (01.02.2006)
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