检索结果 - Patrick Edery

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  1. 1
    Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

    Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. 由 Anna Pelet, Olivier Geneste, Patrick Edery, Andrea Pasini, S Chappuis, T Atti, A Munnich, Gilbert Lenoir, Stanislas Lyonnet, Marc Billaud

    出版 1998
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  2. 2
    The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease

    The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease 由 Marie-Claire Bordeaux, Christelle Forcet, Laure Granger, Véronique Corset, Christelle Bonod‐Bidaud, Marc Billaud, Dale E. Bredesen, Patrick Edery, Patrick Mehlen

    出版 2000
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  3. 3
    Behavioral disturbance and treatment strategies in Smith-Magenis syndrome

    Behavioral disturbance and treatment strategies in Smith-Magenis syndrome 由 Alice Poisson, Alain Nicolas, Pierre Cochat, Damien Sanlaville, Caroline Rigard, Hélène De Leersnyder, Patricia Franco, Vincent des Portes, Patrick Edery, Caroline Demily

    出版 2015
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  4. 4
    New disease gene location and high genetic heterogeneity in idiopathic scoliosis

    New disease gene location and high genetic heterogeneity in idiopathic scoliosis 由 Patrick Edery, Patricia Margaritte‐Jeannin, Bernard Biot, Audrey Labalme, Jean‐Claude Bernard, Joëlle Chastang, Behrouz Kassaï, Marie-Helene Plais, Florina Moldovan, Françoise Clerget‐Darpoux

    出版 2011
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  5. 5
    ELLIPSE Study

    ELLIPSE Study 由 Sophie Dupuis‐Girod, A. Ambrun, Évelyne Decullier, Géraldine Samson, Adeline Roux, Anne‐Emmanuelle Fargeton, Catherine Rioufol, Vérane Schwiertz, F. Disant, François Chapuis, Yves Donazzolo, Gilles Paintaud, Patrick Edery, Frédéric Faure

    出版 2014
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  6. 6
    14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements

    14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements 由 Lila Allou, Laëtitia Lambert, D. Amsallem, Éric Bieth, Patrick Edery, Anne Destrèe, François Rivier, David J. Amor, Elizabeth Thompson, Julian Nicholl, Michael Harbord, Christophe Némos, Aline Saunier, Aissa Moustaïne, Adeline Vigouroux, Philippe Jonveaux, Christophe Philippe

    出版 2012
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  7. 7
    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism

    Epileptic encephalopathies of the Landau‐Kleffner and continuous spike and waves during slow‐wave sleep types: Genomic dissection makes the link with autism 由 Gaëtan Lesca, Gabrielle Rudolf, Audrey Labalme, Édouard Hirsch, Alexis Arzimanoglou, Pierre Genton, Jacques Motté, Anne de Saint Martin, Maria‐Paola Valenti, Clotilde Boulay, Julitta de Bellescize, Pascale Kéo‐Kosal, Nadia Boutry‐Kryza, Patrick Edery, Damien Sanlaville, Pierre Szepetowski

    出版 2012
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  8. 8
    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i>

    A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including <i><scp>GRIN</scp>2A</i> and <i><scp>PRRT</scp>2</i> 由 Sarra Dimassi, Audrey Labalme, Gaëtan Lesca, Gabrielle Rudolf, Nadine Bruneau, Édouard Hirsch, Alexis Arzimanoglou, Jacques Motté, Anne de Saint Martin, Nadia Boutry‐Kryza, Robin Cloarec, Afaf Benitto, Agnès Ameil, Patrick Edery, Philippe Ryvlin, Julitta de Bellescize, Pierre Szepetowski, Damien Sanlaville

    出版 2013
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  9. 9
    New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes

    New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes 由 Catherine Dodé, Nathalie Le Dû, Laurence Cuisset, Frank Letourneur, Jean‐Marie Berthelot, G Vaudour, A Meyrier, Richard A. Watts, G.I. David Scott, Anne Nicholls, B. Granel, Camille Françès, F Garcier, Patrick Edery, S. Boulinguez, Jean-Paul Domergues, Marc Delpech, Gilles Grateau

    出版 2002
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  10. 10
    Spectrum of epilepsy in terminal 1p36 deletion syndrome

    Spectrum of epilepsy in terminal 1p36 deletion syndrome 由 Nadia Bahi‐Buisson, Eva Guttierrez‐Delicado, Christine Soufflet, Marlène Rio, Valérie Cormier‐Daire, Didier Lacombe, Delphine Héron, Alain Verloès, Sameer M. Zuberi, Lydie Bürglen, Alexandra Afenjar, Marie Laure Moutard, Patrick Edery, Antonio Novelli, Laura Bernardini, Olivier Dulac, Rima Nabbout, Perrine Plouin, Agatino Battaglia

    出版 2007
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  11. 11
    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families 由 Marjorlaine Willems, D. Genevieve, Guntram Borck, Clarisse Baumann, Geneviève Baujat, Éric Bieth, Patrick Edery, Chantal Farra, M. Gerard, Delphine Héron, Bruno Leheup, M Le Merrer, Stanislas Lyonnet, Dominique Martin–Coignard, M Mathieu, Christel Thauvin‐Robinet, Alain Verloès, Laurence Colleaux, Arnold Münnich, Valérie Cormier‐Daire

    出版 2009
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  12. 12
    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 由 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

    出版 2009
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  13. 13
    XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

    XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches 由 Silvestre Cuinat, Nicolas Chatron, Florence Petit, Perrine Brunelle, Etienne Dincuff, Marion Aubert‐Mucca, Éric Bieth, Ariane Schmetz, Harald E. Rieder, Bernd Wollnik, Silke Kaulfuß, Gökhan Yiğit, Colina McKeown, Thomas F. Savage, Meghan R. Mulligan, Louise S. Bicknell, Nicole Corsten‐Janssen, Patrick Edery, Gaëtan Lesca, Jean‐Pierre de Villartay, Audrey Putoux

    出版 2025
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  14. 14
    Functional variants of POC5 identified in patients with idiopathic scoliosis

    Functional variants of POC5 identified in patients with idiopathic scoliosis 由 Scott B. Patten, Patricia Margaritte‐Jeannin, Jean‐Claude Bernard, Eudéline Alix, Audrey Labalme, Alicia Besson, Simon Girard, Khaled Fendri, Nicolas Fraisse, Bernard Biot, C. Poizat, Amandine Campan-Fournier, Kariman Abelin-Genevois, V. Cunin, Charlotte Zaouter, Meijiang Liao, Raphaelle Lamy, Gaëtan Lesca, Rita Menassa, Charles Marcaillou, Mélanie Letexier, Damien Sanlaville, J. Bérard, Guy A. Rouleau, Françoise Clerget‐Darpoux, Pierre Drapeau, Florina Moldovan, Patrick Edery

    出版 2015
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  15. 15
    Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

    Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11 由 Christian R. Marshall, Edwin J. Young, Ariel M. Pani, Mary-Louise Freckmann, Yves Lacassie, Cédric Howald, Kristi K. Fitzgerald, Maarit Peippo, Colleen A. Morris, Kate Shane-Carson, Manuela Priolo, Masafumi Morimoto, Ikuko Kondo, Esra Manguoğlu, Sibel Berker-Karaüzüm, Patrick Edery, Holly H. Hobart, Carolyn Β. Mervis, Orsetta Zuffardi, Alexandre Reymond, Paige Kaplan, May Tassabehji, Ronald G. Gregg, Stephen W. Scherer, Lucy R. Osborne

    出版 2008
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  16. 16
    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

    Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations 由 Mariëlle Alders, Antonella Mendola, Lesley C. Adès, Lihadh Al Gazali, Carlo Bellini, Bruno Dallapiccola, Patrick Edery, Ulrich Frank, F. Hornshuh, Sanne Huisman, Sujatha Jagadeesh, Hülya Kayserili, Wee Teik Keng, Dorit Lev, Carlos E. Prada, J Sampson, J. Schmidtke, Vandana Shashi, Yolande van Bever, Nathalie Van der Aa, Judith M.A. Verhagen, Johanna B. G. M. Verheij, Miikka Vikkula, Raoul C. M. Hennekam

    出版 2012
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  17. 17
    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization 由 Frédéric Brioude, Irène Netchine, Françoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert‐Bellanger, Lydie Bürglen, Fabienne Giuliano, Jean‐Luc Alessandri, Valérie Cormier‐Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Bérénice Doray, Alain Verloès, Géraldine Viot, Yves Le Bouc, Sylvie Rossignol

    出版 2015
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  18. 18
    Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

    Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech 由 Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer, B. Leheup, O. Boute, S. Manouvrier, B Delobel, H. Copin, Aline Receveur, M Mathieu, G. Thiriez, C. Le Caignec, A. David, M. C. de Blois, Valérie Malan, Anne Philippe, Valérie Cormier‐Daire, Laurence Colleaux, E. Flori, Hélène Dollfus, V. Pelletier, Christel Thauvin‐Robinet, A. Masurel-Paulet, L. Faivre, Marc Tardieu, Nadia Bahi‐Buisson, Patrick Callier, Francine Mugneret, Patrick Edery, Philippe Jonveaux, Damien Sanlaville

    出版 2010
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  19. 19
    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome 由 Angélique Quartier, Hélène Poquet, Brigitte Gilbert‐Dussardier, Massimiliano Rossi, Anne-Sophie Casteleyn, Vincent des Portes, Claire Feger, Elsa Nourisson, Paul Kuentz, Claire Redin, Julien Thévenon, Anne‐Laure Mosca‐Boidron, Patrick Callier, Jean Muller, Gaëtan Lesca, Frédéric Huet, Véronique Geoffroy, Salima El Chehadeh, Matthieu Jung, Benoît Trojak, Stéphanie Le Gras, Daphné Lehalle, Bernard Jost, Stéphanie Maury, Alice Masurel, Patrick Edery, Christel Thauvin-Robinet, Bénédicte Gérard, Jean‐Louis Mandel, Laurence Faivre, Amélie Piton

    出版 2017
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    Revisão
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  20. 20
    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction 由 Kathleen A. Williamson, Hildegard Nikki Hall, Liusaidh J. Owen, Benjamin Livesey, Isabel M. Hanson, Gill Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael W. Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen‐Kaesbach, Elise Héon, Jane A. Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Françoise Meire, Anthony T. Moore, Michael Parker, Charlotte Reiff, Jay Self, Edward S. Tobias, Joanne Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David Fitzpatrick

    出版 2019
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