Søgeresultater - Fabienne Escande

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  1. 1
    Structural organization and classification of the human mucin genes

    Structural organization and classification of the human mucin genes af Nicolas Moniaux, Fabienne Escande, Nicole Porchet, Jérôme Aubert, Surinder K. Batra

    Udgivet 2001
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  2. 2
    Alternative splicing generates a family of putative secreted and membrane-associated MUC4 mucins

    Alternative splicing generates a family of putative secreted and membrane-associated MUC4 mucins af Nicolas Moniaux, Fabienne Escande, Surinder K. Batra, Nicole Porchet, Anne Laine, Jean‐Pierre Aubert

    Udgivet 2000
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  3. 3
    Neurological aspects of hyperinsulinism–hyperammonaemia syndrome

    Neurological aspects of hyperinsulinism–hyperammonaemia syndrome af Nadia Bahi‐Buisson, Emmanuel Roze, Carlo Dionisi‐Vici, Fabienne Escande, Vassili Valayannopoulos, François Feillet, Claudine Heinrichs

    Udgivet 2008
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  4. 4
    DIPG-44. MOLECULAR AND CHROMOSOMAL CHARACTERIZATION OF A UNIQUE SERIES OF DIFFUSE MIDLINE GLIOMAS IN CHILDREN AND YOUNG ADULTS

    DIPG-44. MOLECULAR AND CHROMOSOMAL CHARACTERIZATION OF A UNIQUE SERIES OF DIFFUSE MIDLINE GLIOMAS IN CHILDREN AND YOUNG ADULTS af Dufour, Charlotte, Vasseur, Romain, Perbet, Romain, Leblond, Pierre, Vinchon, Matthieu, Reyns, Nicolas, Touzet, Gustavo, Maurage, Claude-Alain, Fabienne, Escande, Florence, Renaud

    Udgivet 2018
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  5. 5
    Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma

    Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma af Audrey Hochart, Fabienne Escande, N. Rocourt, Jacques Grill, Valérie Koubi-Pick, Juliette Beaujot, Samuel Meignan, Matthieu Vinchon, Claude Alain Maurage, Pierre Leblond

    Udgivet 2015
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  6. 6
    Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility

    Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility af Michel Crépin, Marie‐Claire Dieu, Sophie Lejeune, Fabienne Escande, Denis Boidin, Nicole Porchet, Gilles Morin, Sylvie Manouvrier, Michèle Mathieu, Marie‐Pierre Buisine

    Udgivet 2011
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  7. 7
    Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity

    Nail–Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity af Jamal Ghoumid, Florence Petit, Muriel Holder‐Espinasse, Anne‐Sophie Jourdain, José Guerra, Anne Dieux‐Coëslier, Martin Figeac, Nicole Porchet, Sylvie Manouvrier‐Hanu, Fabienne Escande

    Udgivet 2015
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  8. 8
    Alterations in the PI3K Pathway Drive Resistance to MET Inhibitors in NSCLC Harboring MET Exon 14 Skipping Mutations

    Alterations in the PI3K Pathway Drive Resistance to MET Inhibitors in NSCLC Harboring MET Exon 14 Skipping Mutations af Philippe Jamme, Marie Fernandes, Marie‐Christine Copin, C. Descarpentries, Fabienne Escande, Angela Morabito, V. Grégoire, Matthieu Jamme, Simon Baldacci, David Tulasne, Zoulika Kherrouche, Alexis B. Cortot

    Udgivet 2020
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  9. 9
    Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants

    Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants af Clémence Vanlerberghe, Anne‐Sophie Jourdain, Jamal Ghoumid, Frédéric Frénois, Aurélie Mezel, Guy Vaksmann, Bruno Lenne, Bruno Delobel, Nicole Porchet, Valérie Cormier‐Daire, Thomas Smol, Fabienne Escande, Sylvie Manouvrier‐Hanu, Florence Petit

    Udgivet 2018
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  10. 10
    Detection of BRAF V600 Mutations in Melanoma: Evaluation of Concordance between the Cobas® 4800 BRAF V600 Mutation Test and the Methods Used in French National Cancer Institute (INCa) Platforms in a Real-Life Setting

    Detection of BRAF V600 Mutations in Melanoma: Evaluation of Concordance between the Cobas® 4800 BRAF V600 Mutation Test and the Methods Used in French National Cancer Institute (IN... af Mourah, Samia, Denis, Marc G., Narducci, Fabienne Escande, Solassol, Jérôme, Merlin, Jean-Louis, Sabourin, Jean-Christophe, Scoazec, Jean-Yves, Ouafik, L’Houcine, Emile, Jean-François, Heller, Remy, Souvignet, Claude, Bergougnoux, Loïc, Merlio, Jean-Philippe

    Udgivet 2015
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  11. 11
    CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomas

    CDKN2A homozygous deletion is a strong adverse prognosis factor in diffuse malignant IDH-mutant gliomas af Romain Appay, Caroline Dehais, Claude‐Alain Maurage, Agustí Alentorn, Alain Carpentier, Carole Colin, François Ducray, Fabienne Escande, Ahmed Idbaïh, Aurélie Kamoun, Yannick Marie, Karima Mokhtari, Émeline Tabouret, Nesrine Trabelsi, Emmanuelle Uro‐Coste, Jean‐Yves Delattre, Dominique Figarella‐Branger

    Udgivet 2019
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  12. 12
    Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1

    Blepharocheilodontic syndrome is a CDH1 pathway–related disorder due to mutations in CDH1 and CTNND1 af Jamal Ghoumid, Morgane Stichelbout, Anne‐Sophie Jourdain, Frédéric Frénois, S. Lejeune-Dumoulin, Marie‐Pierre Alex‐Cordier, Marine Lebrun, P. Guerreschi, V. Duquennoy-Martinot, Matthieu Vinchon, Joël Ferri, Matthieu Jung, Serge Vicaire, Clémence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier‐Hanu

    Udgivet 2017
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  13. 13
    Validation of the high-performance of pyrosequencing for clinical <i>MGMT</i> testing on a cohort of glioblastoma patients from a prospective dedicated multicentric trial

    Validation of the high-performance of pyrosequencing for clinical <i>MGMT</i> testing on a cohort of glioblastoma patients from a prospective dedicated multicentric trial af Véronique Quillien, Audrey Lavenu, François Ducray, Marie‐Odile Joly, Olivier Chinot, Frédéric Fina, Marc Sanson, Alain Carpentier, Lucie Karayan‐Tapon, Pierre Rivet, Natacha Entz‐Werlé, M Legrain, Emmanuèle Lechapt Zalcman, Guénaëlle Levallet, Fabienne Escande, Carole Ramirez, Dan Christian Chiforeanu, Élodie Vauléon, Dominique Figarella‐Branger

    Udgivet 2016
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  14. 14
    Clinico-pathological and epigenetic heterogeneity of diffuse gliomas with FGFR3::TACC3 fusion

    Clinico-pathological and epigenetic heterogeneity of diffuse gliomas with FGFR3::TACC3 fusion af Alice Métais, Arnault Tauziède‐Espariat, Jeremy Garcia, Romain Appay, Emmanuelle Uro‐Coste, David Meyronet, Claude‐Alain Maurage, Fanny Burel‐Vandenbos, Valérie Rigau, Dan Christian Chiforeanu, Johan Pallud, Suhan Senova, Raphaël Saffroy, Carole Colin, Myriam Edjlali, Pascale Varlet, Dominique Figarella-Branger, Audrey Rousseau, Catherine Godfraind, Guillaume Gauchotte, Karima Mokhtari, Franck Bielle, Fabienne Escande, Frédéric Fina

    Udgivet 2023
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  15. 15
    Rare EGFR exon 18 and exon 20 mutations in non-small-cell lung cancer on 10 117 patients: a multicentre observational study by the French ERMETIC-IFCT network

    Rare EGFR exon 18 and exon 20 mutations in non-small-cell lung cancer on 10 117 patients: a multicentre observational study by the French ERMETIC-IFCT network af Michèle Beau‐Faller, Nathalie Prim, Anne-Marie Ruppert, Isabelle Nanni‐Metellus, Roger Lacave, Ludovic Lacroix, Fabienne Escande, Sarab Lizard, Jean‐Luc Prétet, Isabelle Rouquette, Patricia de Crémoux, Jérôme Solassol, Florence de Fraipont, Ivan Bièche, Anne Cayre, E. Favre-Guillevin, Pascale Tomasini, Marie Wislez, Benjamin Besse, M Legrain, Anne‐Claire Voegeli, Laurence Baudrin, Franck Morin, Gérard Zalcman, Élisabeth Quoix, Hélène Blons, Jacques Cadranel

    Udgivet 2013
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  16. 16
    Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

    Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants af Evgeny Z. Kvon, Yiwen Zhu, Guy Kelman, Catherine S. Novak, Ingrid Plajzer-Frick, Momoe Kato, Tyler H. Garvin, Quan Pham, Anne Harrington, Riana D. Hunter, Janeth Godoy, Eman M. Meky, Jennifer A. Akiyama, Veena Afzal, Stella Tran, Fabienne Escande, Brigitte Gilbert‐Dussardier, Nolwenn Jean‐Marçais, Sanjarbek Hudaiberdiev, Ivan Ovcharenko, Matthew B. Dobbs, Christina A. Gurnett, Sylvie Manouvrier‐Hanu, Florence Petit, Axel Visel, Diane E. Dickel, L Pennacchio

    Udgivet 2020
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  17. 17
    Routine molecular profiling of patients with advanced non-small-cell lung cancer: results of a 1-year nationwide programme of the French Cooperative Thoracic Intergroup (IFCT)

    Routine molecular profiling of patients with advanced non-small-cell lung cancer: results of a 1-year nationwide programme of the French Cooperative Thoracic Intergroup (IFCT) af Fabrice Barlési, Julien Mazières, Jean‐Philippe Merlio, D. Debieuvre, Jean Mosser, H. Léna, L’Houcine Ouafik, Benjamin Besse, Isabelle Rouquette, Virginie Westeel, Fabienne Escande, I. Monnet, Antoinette Lemoine, Rémi Veillon, Hélène Blons, Clarisse Audigier-Valette, Pierre‐Paul Bringuier, R. Lamy, Michèle Beau‐Faller, Jean-Louis Pujol, Jean‐Christophe Sabourin, Frédérique Penault‐Llorca, Marc G. Denis, Sylvie Lantuéjoul, Franck Morin, Quân Tran, Pascale Missy, Alexandra Langlais, B. Milleron, J. Cadranel, Jean‐Charles Soria, Gérard Zalcman

    Udgivet 2016
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