检索结果 - Nicolas Janin

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  1. 1
    Cancer predisposing missense and protein truncating<i>BARD1</i>mutations in non-<i>BRCA1</i>or<i>BRCA2</i>breast cancer families

    Cancer predisposing missense and protein truncating<i>BARD1</i>mutations in non-<i>BRCA1</i>or<i>BRCA2</i>breast cancer families 由 Sylvia De Brakeleer, Jacques De Grève, Remy Loris, Nicolas Janin, Willy Lissens, Erica Sermijn, Erik Teugels

    出版 2010
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  2. 2
    Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

    Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families 由 Nicolas Janin, Nadine Andrieu, Katia Ossian, Anthony Laugé, M. F. Croquette, C Griscelli, Marianne Debré, Brigitte Bressac–de Paillerets, Alain Aurias, Dominique Stoppa‐Lyonnet

    出版 1999
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  3. 3
    Cancer risk in heterozygotes for ataxia-telangiectasia

    Cancer risk in heterozygotes for ataxia-telangiectasia 由 B. Geoffroy-Perez, Nicolas Janin, Katia Ossian, Anthony Laug�, Marie-Fran�oise Croquette, C Griscelli, Marianne Debr�, Brigitte Bressac–de Paillerets, Alain Aurias, Dominique Stoppa‐Lyonnet, Nadine Andrieu

    出版 2001
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  4. 4
    The R71G<i>BRCA1</i>is a founder Spanish mutation and leads to aberrant splicing of the transcript

    The R71G<i>BRCA1</i>is a founder Spanish mutation and leads to aberrant splicing of the transcript 由 Ana Vega, Berta Campos, Brigitte Bressac–de Paillerets, Patricia M. Bond, Nicolas Janin, Fiona S. Douglas, Montserrat Domènech, Manel Baena, Carles Pericay, Carmen Alonso, Ángel Carracedo, Montserrat Baiget, Orland Dı́ez

    出版 2001
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  5. 5
    Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers

    Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers 由 Anne‐Laure Renault, Noura Mebirouk, Laetitia Fuhrmann, Guillaume Bataillon, Eve Cavaciuti, Dorothée Le Gal, Elodie Girard, Tatiana Popova, Philippe La Rosa, Juana Beauvallet, Séverine Eon‐Marchais, Marie‐Gabrielle Dondon, Catherine Dubois d’Enghien, Anthony Laugé, Walid Chemlali, Virginie Raynal, Martine Labbé, Ivan Bièche, Sylvain Baulande, Jacques‐Olivier Bay, Pascaline Berthet, Olivier Caron, Bruno Buecher, Laurence Faivre, Marc Fresnay, Marion Gauthier‐Villars, Paul Gesta, Nicolas Janin, Sophie Lejeune, Christine Maugard, Sébastien Moutton, Laurence Venat‐Bouvet, Hélène Zattara, Jean‐Pierre Fricker, Laurence Gladieff, Isabelle Coupier, Georgia Chenevix‐Trench, Janet Hall, Anne Vincent‐Salomon, Dominique Stoppa‐Lyonnet, Nadine Andrieu, Fabienne Lesueur

    出版 2018
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  6. 6
    The <i>BRCA1</i> c. 5096G&gt;A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

    The <i>BRCA1</i> c. 5096G&gt;A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGM... 由 Setareh Moghadasi, Huong Meeks, Maaike P.G. Vreeswijk, Linda AM Janssen, Åke Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig, Norbert Arnold, Thomas van Overeem Hansen, Mads Thomassen, Uffe Birk Jensen, Torben A. Kruse, Bent Ejlertsen, Anne‐Marie Gerdes, Inge Søkilde Pedersen, Sandrine M. Caputo, Fergus J. Couch, Emily J. Hallberg, Ans MW van den Ouweland, Margriet J. Collée, Erik Teugels, Muriel A. Adank, Rob B. van der Luijt, Arjen R. Mensenkamp, Jan C. Oosterwijk, Marinus J. Blok, Nicolas Janin, Kathleen Claes, Kathy Tucker, Valeria Viassolo, Amanda E. Toland, Diana Eccles, Peter Devilee, Christi J. van Asperen, Amanda B. Spurdle, David E. Goldgar, E. Gómez

    出版 2017
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  7. 7
    Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

    Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma 由 Betty Gardie, Audrey Remenieras, Darouna Kattygnarath, Johny Bombled, Sandrine-Hélène Lefèvre, Victoria Perrier-Trudova, Pierre Rustin, M. Barrois, Abdelhamid Slama, M.-F. Avril, D. Bessis, Olivier Caron, F. Caux, Patrick Collignon, I. Coupier, Catherine Cremin, Hélène Dollfus, Catherine Dugast, B. Escudier, Laurence Faivre, Michael Field, Brigitte Gilbert‐Dussardier, Nicolas Janin, Y. Leport, Dominique Leroux, Dan Lipsker, F. Malthieu, B. McGilliwray, Christine Maugard, A. Méjean, Isabelle Mortemousque, Ghislaine Plessis, Bruce Poppe, C. Pruvost‐Balland, S. Rooker, J. Roume, Nadem Soufir, M. Steinraths, Min Tan, Christine Théodore, L. Thomas, P. Vabres, E. Van Glabeke, Jean‐Baptiste Méric, Virginie Verkarre, Gilbert Lenoir, V. Joulin, Scott DeVeaux, Véronica Cusin, Jean Feunteun, Bin Tean Teh, Brigitte Bressac–de Paillerets, Richard J. Kahnoski

    出版 2011
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  8. 8
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease 由 Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J.L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Hélène Dreau, Melissa M. Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean‐Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus‐Michael Debatin, Richard Redon, Stéphane Bézieau, Brigitte Bressac–de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot‐Bonnemains, Richard J. Kahnoski, Anne‐Paule Gimenez‐Roqueplo, Holger Cario, Betty Gardie

    出版 2018
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