Resultados da pesquisa - Dominique Stoppa‐Lyonnet

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  1. 1
    The biological effects and clinical implications of BRCA mutations: where do we go from here?

    The biological effects and clinical implications of BRCA mutations: where do we go from here? Por Dominique Stoppa‐Lyonnet

    Publicado em 2016
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  2. 2
    Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

    Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements. Por Dominique Stoppa‐Lyonnet, P E Carter, T Meo, Mario Tosi

    Publicado em 1990
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  3. 3
    Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays

    Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays Por Tatiana Popova, Élodie Manié, Dominique Stoppa‐Lyonnet, Guillem Rigaill, Emmanuel Barillot, Marc‐Henri Stern

    Publicado em 2009
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  4. 4
    Inactivation of the ATM Gene in T-Cell Prolymphocytic Leukemias

    Inactivation of the ATM Gene in T-Cell Prolymphocytic Leukemias Por Dominique Stoppa‐Lyonnet, Jean Soulier, Anthony Laugé, Hélène Dastot, Richard Garand, François Sigaux, Marc‐Henri Stern

    Publicado em 1998
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  5. 5
    Sensitivity and predictive value of criteria for p53germline mutation screening

    Sensitivity and predictive value of criteria for p53germline mutation screening Por Agnès Chompret, Anne S. Abel, Dominique Stoppa‐Lyonnet, Laurence Brugières, Sabine Pagès, Jean Feunteun, Catherine Bonaïti‐Pellié

    Publicado em 2001
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  6. 6
    Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy

    Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy Por Claire Saule, Emmanuelle Mouret‐Fourme, Adrien Briaux, Véronique Becette, Roman Rouzier, Claude Houdayer, Dominique Stoppa‐Lyonnet

    Publicado em 2017
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  7. 7
    Inactivation of the ATM Gene in T-Cell Prolymphocytic Leukemias

    Inactivation of the ATM Gene in T-Cell Prolymphocytic Leukemias Por Dominique Stoppa‐Lyonnet, Jean Soulier, Anthony Laugé, Hélène Dastot, Richard Garand, François Sigaux, Marc‐Henri Stern

    Publicado em 1998
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  8. 8
    Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

    Rapid detection of novelBRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments Por Federica Casilli, Zorika Christiana Di Rocco, Sophie Gad, Isabelle Tournier, Dominique Stoppa‐Lyonnet, Thierry Frébourg, Mario Tosi

    Publicado em 2002
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  9. 9
    Distinct BRCA1 Rearrangements Involving the BRCA1 Pseudogene Suggest the Existence of a Recombination Hot Spot

    Distinct BRCA1 Rearrangements Involving the BRCA1 Pseudogene Suggest the Existence of a Recombination Hot Spot Por Nadine Puget, Sophie Gad, Laure Perrin-Vidoz, Olga M. Sinilnikova, Dominique Stoppa‐Lyonnet, Gilbert Lenoir, Sylvie Mazoyer

    Publicado em 2002
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  10. 10
    Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

    Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins? Por Olga Anczuków, Mark D. Ware, Monique Buisson, Almoutassem Billah Zetoune, Dominique Stoppa‐Lyonnet, Olga M. Sinilnikova, Sylvie Mazoyer

    Publicado em 2007
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  11. 11
    Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition

    Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition Por Elizabeth Santana Dos Santos, François Lallemand, Leslie Burke, Dominique Stoppa‐Lyonnet, Melissa A. Brown, Sandrine M. Caputo, Étienne Rouleau

    Publicado em 2018
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  12. 12
    An Alu-Mediated 6-kb Duplication in the BRCA1 Gene: A New Founder Mutation?

    An Alu-Mediated 6-kb Duplication in the BRCA1 Gene: A New Founder Mutation? Por Nadine Puget, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Carole Audoynaud, Sabine Pagès, Henry T. Lynch, David E. Goldgar, Gilbert Lenoir, Sylvie Mazoyer

    Publicado em 1999
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  13. 13
    Is the breast-conserving treatment with radiotherapy appropriate in BRCA1/2 mutation carriers? Long-term results and review of the literature

    Is the breast-conserving treatment with radiotherapy appropriate in BRCA1/2 mutation carriers? Long-term results and review of the literature Por Youlia Kirova, Alexia Savignoni, Brigitte Sigal‐Zafrani, Anne de la Rochefordière, Rémy Salmon, Pascale This, Bernard Asselain, Dominique Stoppa‐Lyonnet, Alain Fourquet

    Publicado em 2009
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  14. 14
    Genotype–phenotype correlations in hereditary familial retinoblastoma

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

    Publicado em 2006
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  15. 15
    Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia

    Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia Por Massimo Bogliolo, Dominique Bluteau, James Lespinasse, Roser Pujol, Nadia Vasquez, Catherine Dubois d’Enghien, Dominique Stoppa‐Lyonnet, Thierry Leblanc, Jean Soulier, Jordi Surrallés

    Publicado em 2017
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  16. 16
    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 Por Nicolas Janin, Nadine Andrieu, Katia Ossian, Anthony Laugé, M. F. Croquette, C Griscelli, Marianne Debré, Brigitte Bressac–de Paillerets, Alain Aurias, Dominique Stoppa‐Lyonnet

    Publicado em 1999
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  17. 17
    Denaturing High-Performance Liquid Chromatography Detects Reliably BRCA1 and BRCA2 Mutations

    Denaturing High-Performance Liquid Chromatography Detects Reliably BRCA1 and BRCA2 Mutations Por Teresa Wagner, Dominique Stoppa‐Lyonnet, E. Fleischmann, Daniela Muhr, Sabine Pagès, Therese Sandberg, Virginie Caux, Regina Moeslinger, Gudrun Langbauer, Åke Borg, Peter J. Oefner

    Publicado em 1999
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  18. 18
    Incidence, Presentation, and Prognosis of Malignancies in Ataxia-Telangiectasia: A Report From the French National Registry of Primary Immune Deficiencies

    Incidence, Presentation, and Prognosis of Malignancies in Ataxia-Telangiectasia: A Report From the French National Registry of Primary Immune Deficiencies Por Felipe Suárez, Nizar Mahlaoui, Danielle Canioni, Chantal Andriamanga, Catherine Dubois d’Enghien, Nicole Brousse, Jean‐Philippe Jaïs, Alain Fischer, Olivier Hermine, Dominique Stoppa‐Lyonnet

    Publicado em 2014
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  19. 19
    Deep learning identifies morphological patterns of homologous recombination deficiency in luminal breast cancers from whole slide images

    Deep learning identifies morphological patterns of homologous recombination deficiency in luminal breast cancers from whole slide images Por Tristan Lazard, Guillaume Bataillon, Peter Naylor, Tatiana Popova, François‐Clément Bidard, Dominique Stoppa‐Lyonnet, Marc‐Henri Stern, Étienne Decencière, Thomas Walter, Anne Vincent‐Salomon

    Publicado em 2022
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  20. 20
    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 Por 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

    Publicado em 2007
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