検索結果 - Patricia Fergelot

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  1. 1
    Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

    Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder 著者: Julien Van‐Gils, Frédérique Magdinier, Patricia Fergelot, Didier Lacombe

    出版事項 2021
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    Revisão
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  2. 2
    Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma

    Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma 著者: Jean‐Jacques Patard, Nathalie Rioux‐Leclercq, Damien Masson, Salim Zerrouki, Florence Jouan, Nicolas Collet, Christèle Dubourg, Bernard Lobel, Marc G. Denis, Patricia Fergelot

    出版事項 2009
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    Artigo
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  3. 3
    Low CAIX expression and absence of VHL gene mutation are associated with tumor aggressiveness and poor survival of clear cell renal cell carcinoma

    Low CAIX expression and absence of VHL gene mutation are associated with tumor aggressiveness and poor survival of clear cell renal cell carcinoma 著者: Jean‐Jacques Patard, Patricia Fergelot, Pierre I. Karakiewicz, Tobias Klatte, Quoc‐Dien Trinh, N. Costedoat‐Chalumeau, Jonathan W. Said, Arie S. Belldegrun, Allan J. Pantuck

    出版事項 2008
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    Artigo
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  4. 4
    Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations

    Heterogeneity of Platelet Functional Alterations in Patients With Filamin A Mutations 著者: Eliane Berrou, Frédéric Adam, Marilyne Lebret, Patricia Fergelot, Alexandre Kauskot, Isabelle Coupry, Martine Jandrot‐Perrus, Alan T. Nurden, Rémi Favier, Jean‐Philippe Rosa, Cyril Goizet, Paquita Nurden, Marijke Bryckaert

    出版事項 2012
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    Artigo
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  5. 5
    Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

    Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome 著者: Paquita Nurden, Najet Debili, Isabelle Coupry, Marijke Bryckaert, Ibtissam Youlyouz‐Marfak, Guilhem Solé, Anne-Cécile Pons, Eliane Berrou, Frédéric Adam, Alexandre Kauskot, Jean‐Marie Daniel Lamazière, Philippe Rameau, Patricia Fergelot, Caroline Rooryck, Dorothée Cailley, Benoı̂t Arveiler, Didier Lacombe, William Vainchenker, Alan T. Nurden, Cyril Goizet

    出版事項 2011
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    Artigo
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  6. 6
    <i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants

    <i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants 著者: Mireille Claustres, C. Thèze, Marie des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie‐Pierre Audrézet, I. Duguépéroux, Claude Férec, G. Lalau, A. Pagin, Alain Kitzis, Vincent Thoreau, Véronique Gaston, Éric Bieth, Marie‐Claire Malinge, Marie‐Pierre Reboul, Patricia Fergelot, Lydie Lemonnier, C. Mekki, Pascale Fanen, Anne Bergougnoux, Souphatta Sasorith, Caroline Raynal, Corinne Bareil

    出版事項 2017
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    Artigo
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  7. 7
    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype

    <i>CREBBP</i> mutations in individuals without Rubinstein–Taybi syndrome phenotype 著者: Leonie A. Menke, Martine J. van Belzen, Mariëlle Alders, Francesca Cristofoli, Nadja Ehmke, Patricia Fergelot, Alison Foster, Erica H. Gerkes, Mariëtte J.V. Hoffer, Denise Horn, Sarina G. Kant, Didier Lacombe, Eyby Leon, Saskia M. Maas, Daniela Melis, Valentina Muto, Soo‐Mi Park, Hilde Peeters, Dorien J.M. Peters, Rolph Pfundt, Conny M.A. van Ravenswaaij‐Arts, Marco Tartaglia, Raoul C. M. Hennekam

    出版事項 2016
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    Artigo
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  8. 8
    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

    Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement 著者: Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup, Edward B. Cooper, Sofia Douzgou, Sixto García‐Miñaúr, Hülya Kayserili, Lidia Larizza, Vanesa López González, Leonie A. Menke, Donatella Milani, Francesco Saettini, Cathy A. Stevens, Lloyd Tooke, Jill A Van der Zee, Maria M. van Genderen, Julien Van‐Gils, Jane Waite, Jean-Louis Adrien, Oliver Bartsch, Pierre Bitoun, A. H. M. Bouts, Anna M. Cueto‐González, Elena Domínguez‐Garrido, Floor A.M. Duijkers, Patricia Fergelot, Elizabeth J. Halstead, Sylvia Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos‐Simarro, Brittany Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C M Van Der Kaay, Michiel P. van Wijk, Klea Vyshka, Susan Wiley, Raoul C. M. Hennekam

    出版事項 2024
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    Artigo
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  9. 9
    Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders 著者: Erfan Aref‐Eshghi, Jennifer Kerkhof, Victor P. Pedro, Mouna Barat‐Houari, Nathalie Ruiz-Pallares, Jean‐Christophe Andrau, Didier Lacombe, Julien Van‐Gils, Patricia Fergelot, Christèle Dubourg, Valérie Cormier‐Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier‐Veber, Gaël Nicolas, Gaëtan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin‐Robinet, Frédéric Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel M.A.M. Mannens, Peter Henneman, Raoul C. Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M. Campeau, Justine Rousseau, Michael A. Levy, Lauren Brick, Mariya Kozenko, Tuğçe B. Balcı, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole de Leeuw, Michael Field, Marie Shaw, Jozef Gécz, Peter Ainsworth, Hanxin Lin, David I. Rodenhiser, Michael J. Friez, Matthew L. Tedder, Jennifer A. Lee, Barbara R. DuPont, Roger E. Stevenson, Steven A. Skinner, Charles E. Schwartz, David Geneviève, Bekim Sadiković

    出版事項 2020
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    Artigo
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  10. 10
    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

    Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders 著者: Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne‐Claire Richard, Alexandra Afenjar, Séverine Audebert‐Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie‐Noëlle Bonnet‐Dupeyron, Elise Brischoux‐Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier‐Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean‐François Deleuze, Florence Démurger, Anne‐Sophie Denommé‐Pichon, Christel Depienne, Anne Dieux, Christèle Dubourg, Patrick Edery, Salima El Chehadeh, Laurence Faivre, Patricia Fergelot, Mélanie Fradin, Aurore Garde, David Geneviève, Brigitte Gilbert‐Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne‐Marie Guerrot, Anne Guimier, Inès Harzalla, Delphine Héron, Bertrand Isidor, Didier Lacombe, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaëtan Lesca, James Lespinasse, Jonathan Lévy, Stanislas Lyonnet, Godeliève Morel, Nolwenn Jean‐Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent Pasquier, Laurine Perrin, Florence Petit, Véronique Pingault, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quēlin, Sylvia Redon, Mélanie Rama, Marlène Rio, Massimiliano Rossi, Élise Schaefer, Sophie Rondeau, Pascale Saugier‐Veber, Thomas Smol, Sabine Sigaudy, Renaud Touraine, Frédéric Tran Mau‐Them, Aurélien Trimouille, Julien Van‐Gils, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier

    出版事項 2023
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    Artigo
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  11. 11
    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles 著者: Sadegheh Haghshenas, Hidde J. Bout, Josephine Schijns, Michael A. Levy, Jennifer Kerkhof, Pratibha Bhai, Haley McConkey, Zandra A. Jenkins, Ella M. Williams, Benjamin J. Halliday, Sylvia Huisman, Peter Lauffer, Vivian de Waard, Laura Witteveen, Siddharth Banka, Angela F. Brady, Elena Galazzi, Julien Van‐Gils, Anna Hurst, Frank J. Kaiser, Didier Lacombe, Antonio Federico Martínez‐Monseny, Patricia Fergelot, Fabíola Paoli Monteiro, Ilaria Parenti, Luca Persani, Fernando Santos‐Simarro, Brittany Simpson, Andrea Angius, Janice Baker, Emma Bedoukian, Vikas Bhambhani, Olaf A. Bodamer, Alan O’Brien, Jill Clayton‐Smith, Laura Crisponi, Anna M. Cueto‐González, the DDD study, Koenraad Devriendt, Elena Garrido, Nadja Ehmke, Albertien M. van Eerde, Annette P.M. van den Elzen, Laurence Faivre, Laura J. Fisher, Josue Flores-Daboub, Alison Foster, Jennifer Friedman, Elisabeth Gabau, Elena Galazzi, Sixto García‐Miñaúr, Livia Garavelli, Thatjana Gardeitchik, Erica H. Gerkes, Julien Van‐Gils, Jacques C. Giltay, Aixa Gonzalez Garcia, Ketil Heimdal, Denise Horn, Gunnar Houge, Sophia B. Hufnagel, Denisa Ilenčíková, Sophie Julia, Sarina G. Kant, Esther Kinning, Eric W. Klee, Chelsea Kois, M. Kovacevic, A.M.A. Lachmeijer, Brendan C. Lanpher, Marine Lebrun, Eyby Leon, Angie Lichty, Ruth Lin, Isabel Llano‐Rivas, Sally Ann Lynch, Saskia M. Maas, Silvia Maitz, Shane McKee, Daniela Melis, Elisabetta Merati, Giuseppe Merla, Ruth Newbury‐Ecob, Mathilde Nizon, Soo-Mi Park, Jennifer Patterson, Florence Petit, Hilde Peeters, Luca Persani, Ivana Persico, Valentina Pes, Marzia Pollazzon, Thomas P. Potjer, Lorraine Potocki, Carrie Pottinger, Chitra Prasad, Eloise J. Prijoles, Nicola Ragge, Jan Peter Rake, Conny M.A. van Ravenswaaij‐Arts

    出版事項 2024
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    Artigo
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