Search Results - Marion Gauthier‐Villars

Refine Results
  1. 1
    Retinoblastoma

    Retinoblastoma by Isabelle Aerts, Livia Lumbroso‐Le Rouic, Marion Gauthier‐Villars, Hervé J. Brisse, François Doz, Laurence Desjardins

    Published 2006
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    Genotype–phenotype correlations in hereditary familial retinoblastoma

    Genotype–phenotype correlations in hereditary familial retinoblastoma by Mélissa Taylor, Catherine Dehainault, Laurence Desjardins, François Doz, Christine Lévy, Xavier Sastre, Jérôme Couturier, Dominique Stoppa‐Lyonnet, Claude Houdayer, Marion Gauthier‐Villars

    Published 2006
    Get full text
    Artigo
    Save to List
    Saved in:
  3. 3
    A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

    A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation by Catherine Dehainault, Dorothée Michaux, Sabine Pagès-Berhouet, Virginie Caux‐Moncoutier, François Doz, Laurence Desjardins, Jérôme Couturier, Philippe Parent, Dominique Stoppa‐Lyonnet, Marion Gauthier‐Villars, Claude Houdayer

    Published 2007
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Evaluation of in silico splice tools for decision-making in molecular diagnosis

    Evaluation of in silico splice tools for decision-making in molecular diagnosis by Claude Houdayer, Catherine Dehainault, Christophe Mattler, Dorothée Michaux, Virginie Caux‐Moncoutier, Sabine Pagès-Berhouet, Catherine Dubois d’Enghien, Anthony Laugé, Laurent Castéra, Marion Gauthier‐Villars, Dominique Stoppa‐Lyonnet

    Published 2008
    Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Comprehensive screening for constitutional <i>RB1</i> mutations by DHPLC and QMPSF

    Comprehensive screening for constitutional <i>RB1</i> mutations by DHPLC and QMPSF by Claude Houdayer, Marion Gauthier‐Villars, Anthony Laugé, Sabine Pagès-Berhouet, Catherine Dehainault, Virginie Caux‐Moncoutier, P. Karczynski, Mario Tosi, François Doz, Laurence Desjardins, J Couturier, Dominique Stoppa‐Lyonnet

    Published 2004
    Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

    Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma by F. Bourdeaut, Aurélie Herault, David Gentien, Gaëlle Pierron, Steven Ballet, Stéphanie Reynaud, Raphaël Paris, Gudrun Schleiermacher, Clarisse Baumann, Pascale Philippe‐Chomette, Marion Gauthier‐Villars, Michel Peuchmaur, François Radvanyi, Olivier Delattre

    Published 2010
    Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    MDM2 as a Modifier Gene in Retinoblastoma

    MDM2 as a Modifier Gene in Retinoblastoma by Laurent Castéra, Audrey Sabbagh, Catherine Dehainault, Dorothée Michaux, Audrey Mansuet‐Lupo, Blandine Patillon, Estelle Lamar, Isabelle Aerts, Livia Lumbroso‐Le Rouic, Jérôme Couturier, Dominique Stoppa‐Lyonnet, Marion Gauthier‐Villars, Claude Houdayer

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  8. 8
    Bone sarcomas and cancer predisposition syndromes

    Bone sarcomas and cancer predisposition syndromes by Camille Tlemsani, Gaëlle Bougeard, Marion Gauthier‐Villars, Philippe Denizeau, S.T. Winter, Caroline Michot, Geneviève Baujat, Brigitte Bressac–de Paillerets, Tiphaine Adam de Beaumais, Aymeric Rouchaud, Fadila Mihoubi-Bouvier, Franck Bourdeaut, Laurence Brugières, Thierry Leblanc, Edwige Kasper, Nadège Corradini

    Published 2025
    Get full text
    Revisão
    Save to List
    Saved in:
  9. 9
    Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group

    Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group by Janna A. Hol, Rosalyn Jewell, Tanzina Chowdhury, Catriona Duncan, Kayo Nakata, Takaharu Oue, Marion Gauthier‐Villars, Annemieke S. Littooij, Yasuhiko Kaneko, Norbert Graf, Franck Bourdeaut, Marry M. van den Heuvel‐Eibrink, Kathy Pritchard‐Jones, Eamonn R. Maher, Christian P. Kratz, Marjolijn C.J. Jongmans

    Published 2021
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  10. 10
    Pregnancies, Breast-Feeding, and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

    Pregnancies, Breast-Feeding, and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study (IBCCS) by Nadine Andrieu, David E. Goldgar, Douglas F. Easton, Matti A. Rookus, Richard M. Brohet, Antonis C. Antoniou, Susan Peock, D. Gareth Evans, Diana Eccles, Fiona Douglas, Catherine Noguès, Marion Gauthier‐Villars, Agnès Chompret, Flora E. van Leeuwen, Irma Kluijt, Javier Benı́tez, Brita Arver, Edith Oláh, Jenny Chang‐Claude

    Published 2006
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers

    Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers by Lisa Golmard, Laurent Castéra, Sophie Krieger, Virginie Moncoutier, Khadija Abidallah, Henrique Tenreiro, Anthony Laugé, Julien Tarabeux, Gaël A. Millot, Nicolás André, Marick Laé, Caroline Abadie, Pascaline Berthet, Florence Polycarpe, Thierry Frébourg, Camille Elan, Antoine De Pauw, Marion Gauthier‐Villars, Bruno Buecher, Marc‐Henri Stern, Dominique Stoppa‐Lyonnet, Dominique Vaur, Claude Houdayer

    Published 2017
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    <scp><i>SMARCB1</i></scp>‐deficient malignant melanocytic uveal tumours: a new neural crest‐derived tumour entity with <scp><i>SMARCB1</i></scp>‐related germline predisposition

    <scp><i>SMARCB1</i></scp>‐deficient malignant melanocytic uveal tumours: a new neural crest‐derived tumour entity with <scp><i>SMARCB1</i></scp>‐related germline predisposition... by Joanna Cyrta, Julien Masliah‐Planchon, Owen Hoare, Riwan Brillet, Mamy Andrianteranagna, Pierre Sohier, Liesbeth Cardoen, Yassine Bouchoucha, Mathilde Filser, Andreia Gonçalves, Martial Caly, Paul Fréneaux, Kalliopi Stefanaki, Maria Pefkianaki, Maria Moschovi, Alexandre Matet, Nathalie Cassoux, Livia Lumbroso‐Le Rouic, Marion Gauthier‐Villars, Marc‐Henri Stern, Anne Vincent‐Salomon, Manuel Rodrigues, Franck Bourdeaut

    Published 2025
    Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Frequent <i>hSNF5/INI1</i> Germline Mutations in Patients with Rhabdoid Tumor

    Frequent <i>hSNF5/INI1</i> Germline Mutations in Patients with Rhabdoid Tumor by Franck Bourdeaut, Delphine Lequin, Laurence Brugières, Stéphanie Reynaud, Christelle Dufour, François Doz, Nicolás André, Jean‐Louis Stéphan, Yves Pérel, Odile Oberlin, Daniel Orbach, Christophe Bergeron, Xavier Rialland, Paul Fréneaux, Dominique Ranchère, Dominique Figarella‐Branger, G. Audry, Stéphanie Puget, D. Gareth Evans, Joan Carles Ferreres, Valeria Capra, Véronique Mosseri, Isabelle Coupier, Marion Gauthier‐Villars, Gaëlle Pierron, Olivier Delattre

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

    Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations by Lisa Golmard, Capucine Delnatte, Anthony Laugé, Virginie Moncoutier, Cédrick Lefol, Khadija Abidallah, Henrique Tenreiro, F Copigny, Mathieu Giraudeau, Christophe Guy, Catherine Barbaroux, Gisele Cardoso de Amorim, Adrien Briaux, V. Guibert, Julien Tarabeux, Sandrine M. Caputo, Agnès Collet, Paul Gesta, Olivier Ingster, Marc‐Henri Stern, Étienne Rouleau, Antoine De Pauw, Marion Gauthier‐Villars, Bruno Buecher, Stéphane Bézieau, Dominique Stoppa‐Lyonnet, Claude Houdayer

    Published 2015
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK)

    Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK) by Anouk Pijpe, Nadine Andrieu, D. F. Easton, Ausrele Kesminiene, Elisabeth Cardis, Catherine Noguès, Marion Gauthier‐Villars, C. Lasset, Jean Pierre Fricker, S. Peock, D Frost, D. Gareth Evans, Rosalind A. Eeles, J. Paterson, Peggy Manders, C. J. van Asperen, Margreet G.E.M. Ausems, Hanne Meijers-Heijboer, Isabelle Thierry-Chef, Michael Hauptmann, David E. Goldgar, Matti A. Rookus, F. E. van Leeuwen

    Published 2012
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Pleuropulmonary blastoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations

    Pleuropulmonary blastoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations by Gianni Bisogno, Sabine Sarnacki, Teresa Stachowicz‐Stencel, Veronique Minard Colin, Andrea Ferrari, Jan Godziński, Marion Gauthier Villars, Ewa Bień, Frédéric Hameury, Sylvie Helfré, Dominik T. Schneider, Yves Réguerre, Ricardo López Almaraz, Dragana Janić, Maja Česen, Alexandra Kolenová, Jelena Rascon, Ката Мартинова, Rodica Cosnarovici, Apostolos Pourtsidis, Tal Ben Ami, Jelena Roganović, Ewa Kościelniak, Kris Ann P. Schultz, Ines B. Brecht, Daniel Orbach

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    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 by 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

    Published 2018
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes

    Screening Mammography and Breast Cancer: Variation in Risk with Rare Deleterious or Predicted Deleterious Variants in DNA Repair Genes by Maximiliano Ribeiro Guerra, Marie‐Gabrielle Dondon, Séverine Eon‐Marchais, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Muriel Belotti, Eve Cavaciuti, Claude Adenis-Lavignasse, Séverine Audebert‐Bellanger, Pascaline Berthet, Valérie Bonadona, Bruno Buecher, Olivier Caron, Mathias Cavaillé, Jean Chiésa, Chrystelle Colas, Isabelle Coupier, Capucine Delnatte, Hélène Dreyfus, Anne Fajac, Sandra Fert‐Ferrer, Jean‐Pierre Fricker, Marion Gauthier‐Villars, Paul Gesta, Sophie Giraud, Laurence Gladieff, Christine Lasset, S. Lejeune-Dumoulin, Jean–Marc Limacher, Michel Longy, Alain Lortholary, Élisabeth Luporsi, Christine M. Maugard, Isabelle Mortemousque, Sophie Nambot, Catherine Noguès, Pascal Pujol, Laurence Venat‐Bouvet, Florent Soubrier, Julie Tinat, A. Tardivon, Fabienne Lesueur, Dominique Stoppa‐Lyonnet, Nadine Andrieu

    Published 2025
    Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents by Sahra Bodo, Chrystelle Colas, Olivier Buhard, Ada Collura, Julie Tinat, Noémie Lavoine, Agathe Guilloux, Alexandra Chalastanis, Philippe Lafitte, Florence Coulet, Marie‐Pierre Buisine, Denisa Ilenčíková, Clara Ruíz-Ponte, Miriam Kinzel, S Grandjouan, Hilde Brems, Sophie Lejeune, Hélène Blanché, Qing Wang, Olivier Caron, Odile Cabaret, Magali Svrcek, Dominique Vidaud, Béatrice Parfait, Alain Verloès, Ulrich J. Knappe, Florent Soubrier, Isabelle Mortemousque, Alexander Leis, Jessie Auclair‐Perrossier, Thierry Frébourg, Jean–François Fléjou, Natacha Entz‐Werlé, Julie Leclerc, David Malka, Odile Cohen‐Haguenauer, Yael Goldberg, Anne‐Marie Gerdes, Faten Fedhila, Michèle Mathieu‐Dramard, Richard Hamelin, Wafaa Badre, Marion Gauthier‐Villars, Franck Bourdeaut, Eamonn Sheridan, Hans F. A. Vasen, Laurence Brugières, Katharina Wimmer, Martine Muleris, Alex Duval

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation

    Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation by Maximiliano Ribeiro Guerra, Juliette Coignard, Séverine Eon‐Marchais, Marie‐Gabrielle Dondon, Dorothée Le Gal, Juana Beauvallet, Noura Mebirouk, Muriel Belotti, Olivier Caron, Marion Gauthier‐Villars, Isabelle Coupier, Bruno Buecher, Alain Lortholary, Jean‐Pierre Fricker, Paul Gesta, Catherine Noguès, Laurence Faivre, Pascaline Berthet, Élisabeth Luporsi, Capucine Delnatte, Valérie Bonadona, Christine M. Maugard, Pascal Pujol, Christine Lasset, Michel Longy, Yves‐Jean Bignon, Claude Adenis-Lavignasse, Laurence Venat‐Bouvet, Hélène Dreyfus, Laurence Gladieff, Isabelle Mortemousque, Séverine Audebert‐Bellanger, Florent Soubrier, Sophie Giraud, S. Lejeune-Dumoulin, Jean–Marc Limacher, Jean Chiésa, Anne Fajac, Anne Floquet, François Eisinger, Julie Tinat, Sandra Fert‐Ferrer, Chrystelle Colas, Thierry Frébourg, Francesca Damiola, Laure Barjhoux, Eve Cavaciuti, Sylvie Mazoyer, A. Tardivon, Fabienne Lesueur, Dominique Stoppa‐Lyonnet, Nadine Andrieu

    Published 2021
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: