Výsledky vyhledávání - Ghislaine Plessis

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  1. 1
    Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene ( <i>SPINK1</i> ) cause familial and/or hereditary pancreatitis

    Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene ( <i>SPINK1</i> ) cause familial and/or hereditary pancreatitis Autor Cédric Le Maréchal, Jian‐Min Chen, C. Gall, Ghislaine Plessis, J Chipponi, Nadia Chuzhanova, Odile Raguénès, Claude Férec

    Vydáno 2004
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  2. 2
    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

    A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype Autor Anne Moncla, Chantal Missirian, Pierre Cacciagli, Eve Balzamo, Laurence Legeai‐Mallet, Jean-Luc Jouve, B. Chabrol, Martine Le Merrer, Ghislaine Plessis, Laurent Villard, Nicole Philip

    Vydáno 2007
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  3. 3
    Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France

    Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France Autor Gaëtan Lesca, Henri Plauchu, Florence Coulet, Sylvain Lefèbvre, Ghislaine Plessis, Sylvie Odent, Sophie Rivière, Bruno Leheup, Cyril Goizet, Marie‐France Carette, Jean-François Cordier, S. Pinson, Florent Soubrier, Alain Calender, Sophie Giraud

    Vydáno 2004
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  4. 4
    <i>Neurofibromatosis‐1</i> gene deletions and mutations in de novo adult acute myeloid leukemia

    <i>Neurofibromatosis‐1</i> gene deletions and mutations in de novo adult acute myeloid leukemia Autor Elise Boudry‐Labis, Catherine Roche‐Lestienne, Olivier Nibourel, Nicolas Boissel, Christine Terré, Christine Pérot, Virginie Éclache, Nathalie Gachard, Isabelle Tigaud, Ghislaine Plessis, Wendy Cuccuini, Sandrine Geffroy, Céline Villenet, Martin Figeac, Frédéric Leprêtre, Aline Renneville, Meyling Cheok, Jean Soulier, Hervé Dombret, Claude Preudhomme

    Vydáno 2013
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  5. 5
    A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility<sup>1</sup>

    A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility<sup>1</sup> Autor Csilla Krausz, Lluís Quintana‐Murci, Sandrine Barbaux, Jean‐Pierre Siffroi, Hassan Rouba, D Delafontaine, Nicole Therville, G Arvis, J.-M. Antoine, E. Erdei, J.P. Taar, Attila Tar, Éric Jeandidier, Ghislaine Plessis, Thomas Bourgeron, J. P. Dadoune, Marc Fellous, Ken McElreavey

    Vydáno 1999
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  6. 6
    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

    ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia Autor Lucas Fares‐Taie, S. Gerber, Nicolas Chassaing, Jill Clayton‐Smith, Sylvain Hanein, Eduardo Silva, Margaux Serey, Valérie Serre, Xavier Gérard, Clarisse Baumann, Ghislaine Plessis, Bénédicte Demeer, Lionel Brétillon, Christine Bole, Patrick Nitschké, Arnold Münnich, Stanislas Lyonnet, Patrick Calvas, Josseline Kaplan, Nicola Ragge, Jean‐Michel Rozet

    Vydáno 2013
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  7. 7
    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases Autor Caroline Schluth–Bolard, Bruno Delobel, Damien Sanlaville, Odile Boute, Jean‐Marie Cuisset, Sylvie Sukno, Audrey Labalme, Bénédicte Duban‐Bedu, Ghislaine Plessis, Sylvie Jaillard, Christèle Dubourg, Cathérine Henry, Josette Lucas, Sylvie Odent, Laurent Pasquier, Henri Copin, Philippe Latour, Marie‐Pierre Cordier, Gwenaël Nadeau, Marianne Till, Patrick Edery, Joris Andrieux

    Vydáno 2009
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  8. 8
    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome

    Deletions and de novo mutations of<i>SOX11</i>are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome Autor Annmarie Hempel, Alistair T. Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo‐Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C. Taylor, Malcolm F. Howard, David A. Keays, Aman Singh Sohal, Susanne J. Kühl, Usha Kini, Alisdair McNeill

    Vydáno 2015
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  9. 9
    Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

    Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria Autor Xavier H. Jaglin, Karine Poirier, Yoann Saillour, Emmanuelle Buhler, Guoling Tian, Nadia Bahi‐Buisson, Catherine Fallet‐Bianco, Françoise Phan-Dinh-Tuy, Xiang‐Peng Kong, Pascale Bomont, Laëtitia Castelnau-Ptakhine, Sylvie Odent, Philippe Loget, Manoëlle Kossorotoff, I. Snoeck, Ghislaine Plessis, Philippe Parent, Chérif Beldjord, Carlos Cardoso, Alfonso Represa, Jonathan Flint, David A. Keays, Nicholas J. Cowan, Jamel Chelly

    Vydáno 2009
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  10. 10
    Congenital mirror movements

    Congenital mirror movements Autor Aurélie Méneret, Christel Depienne, Florence Riant, Oriane Trouillard, Delphine Bouteiller, M. Cincotta, Pierre Bitoun, Julia Wickert, Lagroua Isabelle, Ana Westenberger, Alessandra Borgheresi, Diane Doummar, Marcello Romano, Símone Rossi, Luc Defebvre, Linda De Meırleır, Alberto J. Espay, Simona Fiori, Stephan Klebe, Chloé Quēlin, Sabine Rudnik–Schöneborn, Ghislaine Plessis, Russell C. Dale, Susan Sklower Brooks, Karolina Dzieżyc, Pierre Pollak, Jean‐Louis Golmard, Marie Vidailhet, Alexis Brice, Emmanuel Roze

    Vydáno 2014
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  11. 11
    Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

    Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome Autor Alexander G. Marneros, Anita Beck, Emily H. Turner, Margaret J. McMillin, Matthew Edwards, Michael Field, Nara Sobreira, Ana Beatriz Alvarez Pérez, José Augusto Ribas Fortes, Anne Katrin Lampe, Maria Luisa Giovannucci Uzielli, Christopher T. Gordon, Ghislaine Plessis, Martine Le Merrer, Jeanne Amiel, Ernst Reichenberger, Kathryn M. Shively, Felecia Cerrato, Brian I. Labow, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad

    Vydáno 2013
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  12. 12
    Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

    Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome Autor Houda Karmous‐Benailly, Jéléna Martinovic, Marie‐Claire Gubler, Yoann Sirot, Laure Clech, Catherine Ozilou, Joëlle Augé, Nora Brahimi, Heather Etchevers, Eric Detrait, Chantal Esculpavit, Sophie Audollent, Géraldine Goudefroye, Marie Gonzalès, Julia Tantau, Philippe Loget, Madeleine Joubert, Dominique Gaillard, Corinne Jeanne‐Pasquier, Anne‐Lise Delezoide, Marie-Odile Peter, Ghislaine Plessis, Brigitte Simon‐Bouy, Hélène Dollfus, Martine Le Merrer, Arnold Münnich, Férechté Encha‐Razavi, Michel Vekemans, Tania Attié‐Bitach

    Vydáno 2005
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  13. 13
    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

    A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH Autor Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth–Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty, Agnès Choiset, Ghislaine Plessis, Audrey Basinko, Pascaline Létard, Elisabeth Flori, Mélanie Jimenez, Mylène Valduga, Emilie Landais, Hakima Lallaoui, François Cartault, James Lespinasse, Dominique Martin–Coignard, Patrick Callier, Céline Pebrel‐Richard, Marie-France Portnoı̈, Tiffany Busa, Aline Receveur, Florence Amblard, Catherine Yardin, Radu Harbuz, Fabienne Prieur, Nathalie Le Meur, Eva Pipiras, Pascale Kleinfinger, François Vialard, Martine Doco‐Fenzy

    Vydáno 2015
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  14. 14
    Early onset collagen VI myopathies: Genetic and clinical correlations

    Early onset collagen VI myopathies: Genetic and clinical correlations Autor Laura Briñas, Pascale Richard, Susana Quijano‐Roy, Corine Gartioux, C. Ledeuil, Emmanuelle Lacène, S. Makri, Ana Ferreiro, Svetlana Maugenre, Haluk Topaloğlu, Göknur Haliloğlu, I. Pénisson-Besnier, Pierre‐Yves Jeannet, Luciano Merlini, Carmen Navarro, Annick Toutain, Denys Chaigne, Isabelle Desguerre, Christine de Die‐Smulders, Murielle Dunand, Bernard Échenne, B. Eymard, Thierry Küntzer, Kim Maincent, M. Mayer, Ghislaine Plessis, François Rivier, Filip Roelens, Tanya Stojkovic, Ana Lía Taratuto, Fabiana Lubieniecki, Soledad Monges, Christine Tranchant, Louis Viollet, Norma B. Romero, B. Estournet, Pascale Guicheney, Valérie Allamand

    Vydáno 2010
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  15. 15
    In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome

    In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome Autor Virginie Carmignac, Julien Thevenon, Lesley C. Adès, Bert Callewaert, Sophie Julia, Christel Thauvin‐Robinet, Lucie Gueneau, Jean‐Benoît Courcet, Estelle Lopez, Katherine Holman, Marjolijn Renard, Henri Plauchu, Ghislaine Plessis, Julie De Backer, Anne H. Child, Gavin Arno, Laurence Duplomb, Patrick Callier, Bernard Aral, P. Vabres, Nadège Gigot, Eloisa Arbustini, Maurizia Grasso, Peter N. Robinson, Cyril Goizet, Clarisse Baumann, Maja Di Rocco, Jaime Sánchez del Pozo, Frédéric Huet, Guillaume Jondeau, Gwenaëlle Collod‐Béroud, Christophe Béroud, Jeanne Amiel, Valérie Cormier‐Daire, Jean‐Baptiste Rivière, Cathérine Boileau, Anne De Paepe, Laurence Faivre

    Vydáno 2012
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  16. 16
    PDE3A mutations cause autosomal dominant hypertension with brachydactyly

    PDE3A mutations cause autosomal dominant hypertension with brachydactyly Autor Philipp G. Maass, Atakan Aydın, Friedrich C. Luft, Carolin Schächterle, Anja Weise, Sigmar Stricker, Carsten Lindschau, Martin Vaegler, Fatimunnisa Qadri, Hakan R. Toka, Herbert Schulz, Peter Krawitz, Dmitri Parkhomchuk, Jochen Hecht, Irene Hollfinger, Yvette Wefeld‐Neuenfeld, Eireen Bartels‐Klein, Astrid Mühl, Martin Kann, Herbert Schuster, David Chitayat, Martin G. Bialer, Thomas F. Wienker, Jürg Ott, Katharina Rittscher, Thomas Liehr, Jens Jordan, Ghislaine Plessis, Jens Tank, Knut Mai, Ramin Naraghi, Russell Hodge, M Hopp, Lars‐Olof Hattenbach, Andreas Busjahn, Anita Rauch, Fabrice Vandeput, Maolian Gong, Franz Rüschendorf, Norbert Hübner, Hermann Haller, Stefan Mundlos, N Bilginturan, Matthew A. Movsesian, Enno Klußmann, Okan Toka, Sylvia Bähring

    Vydáno 2015
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  17. 17
    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 Autor 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

    Vydáno 2011
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  18. 18
    The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

    The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype Autor Mouna Barat‐Houari, Bruno Dumont, Aurélie Fabre, Frédéric TM Them, Yves Alembik, Jean‐Luc Alessandri, Jeanne Amiel, Séverine Audebert, Clarisse Baumann-Morel, Patricia Blanchet, Éric Bieth, Marie Pierre Brechard, Tiffany Busa, Patrick Calvas, Yline Capri, François Cartault, Nicolas Chassaing, Vidrica Ciorca, Christine Coubes, Albert David, Anne‐Lise Delezoide, Delphine Dupin‐Deguine, Salima El Chehadeh, Laurence Faivre, Fabienne Giuliano, Alice Goldenberg, Bertrand Isidor, Marie‐Line Jacquemont, Sophie Julia, Josseline Kaplan, Didier Lacombe, Marine Lebrun, Sandrine Marlin, Dominique Martin–Coignard, Jéléna Martinovic, Alice Masurel, Judith Melki, Monique Mozelle-Nivoix, Karine Nguyen, Sylvie Odent, Nicole Philip, Lucile Pinson, Ghislaine Plessis, Chloé Quēlin, Elise Shaeffer, Sabine Sigaudy, Christel Thauvin, Marianne Till, Renaud Touraine, Jacqueline Vigneron, Geneviève Baujat, Valérie Cormier‐Daire, Martine Le Merrer, David Geneviève, Isabelle Touitou

    Vydáno 2015
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  19. 19
    A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

    A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology Autor Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne Maillard, Ali Abdullah Alfaiz, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, J. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond, Eugenia Migliavacca, Katrin Männik, Louise Harewood, Maria Nicla Loviglio, Robert M. Witwicki, Gérard Didelot, Ilse van der Werf, Ali Abdullah Alfaiz, Marianna Zazhytska, Giuliana Giannuzzi, Jacqueline Chrast, Aurélien Macé, Sven Bergmann, Zoltán Kutalik, Loyse Hippolyte, Anne Maillard, Vanessa Siffredi, Flore Zufferey, Danielle Martinet, Frédérique Béna, Anita Rauch, Sonia Bouquillon, Joris Andrieux, Bruno Delobel, Odile Boute, Bénédicte Duban‐Bedu, Cédric Le Caignec, Bertrand Isidor, Jean Chiésa, Boris Keren, Brigitte Gilbert‐Dussardier, Renaud Touraine, Dominique Campion, Caroline Rooryck, Michèle Mathieu‐Dramard, Ghislaine Plessis, R. Frank Kooy, Hilde Peeters, Katrin Õunap, Anneke T. Vulto‐van Silfhout, Bert Ba de Vries, Ellen van Binsbergen, Mieke M. van Haelst, Ann Nordgren, Mafalda Mucciolo, Alessandra Renieri, Evica Rajcan‐Separovic, John A. Philipps, Richard J. Ellis, J. Beckmann, Sébastien Jacquemont, Alexandre Reymond

    Vydáno 2015
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  20. 20
    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

    Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Autor Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre‐Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin‐Robinet, Réseau AChro-Puce, Jean‐Michel Pédespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent‐Delorme, Bénédicte Duban‐Bedu, Nadia Bahi‐Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean‐Luc Alessandri, Dominique Martin–Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne‐Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert‐Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent des Portes, Salima El Chehadeh

    Vydáno 2018
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