Výsledky vyhledávání - Pierre Bitoun

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  1. 1
    AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC

    AICA-Ribosiduria: A Novel, Neurologically Devastating Inborn Error of Purine Biosynthesis Caused by Mutation of ATIC Autor Sandrine Marie, Bénédicte Héron, Pierre Bitoun, Thérèse Timmerman, Georges Berghe, Marie‐Françoise Vincent

    Vydáno 2004
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  2. 2
    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia Autor Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun, Lysanne Patry, Marie‐Pierre Cordier, José‐Mario Capo‐Chichi, Christine Francannet, Patrick Calvas, Nicola Ragge, Sylvia Dobrzeniecka, Fadi F. Hamdan, Guy A. Rouleau, André Tremblay, Jacques L. Michaud

    Vydáno 2013
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  3. 3
    The supplementary motor area modulates interhemispheric interactions during movement preparation

    The supplementary motor area modulates interhemispheric interactions during movement preparation Autor Quentin Welniarz, Cécile Gallea, Jean‐Charles Lamy, Aurélie Méneret, Traian Popa, Romain Valabrègue, Benoît Béranger, Vanessa Brochard, Constance Flamand‐Roze, Oriane Trouillard, Cécilia Bonnet, Norbert Brüggemann, Pierre Bitoun, Bertrand Degos, Cécile Hubsch, Élodie Hainque, Jean‐Louis Golmard, Marie Vidailhet, Stéphane Lehéricy, Isabelle Dusart, Sabine Meunier, Emmanuel Roze

    Vydáno 2019
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  4. 4
    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort Autor Haifa Hichri, Corinne Stoetzel, Virginie Laurier, Solenne Caron, Sabine Sigaudy, Pierre Sarda, Christian Hamel, Dominique Martin–Coignard, Gilles Morin, Bruno Leheup, Mureille Holder, Josseline Kaplan, Pierre Bitoun, Didier Lacombe, Alain Verloès, Dominique Bonneau, Fabienne Perrin‐Schmitt, Christian Brandt, Anne-Françoise Besancon, Jean‐Louis Mandel, Mireille Cossée, Hélène Dollfus

    Vydáno 2005
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  5. 5
    Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

    Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, an... Autor Francesca Pasutto, Heinrich Sticht, G. Hammersen, Gabriele Gillessen‐Kaesbach, David Fitzpatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John Tolmie, David Chitayat, Gunnar Houge, Lorena T. Fernández‐Martínez, Sarah Keating, Geert Mortier, Raoul C. M. Hennekam, A von der Wense, Anne Slavotinek, Peter Meinecke, Pierre Bitoun, Christian Becker, Peter Nürnberg, André Reis, Anita Rauch

    Vydáno 2007
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  6. 6
    Identification of CANT1 Mutations in Desbuquois Dysplasia

    Identification of CANT1 Mutations in Desbuquois Dysplasia Autor Céline Huber, Bénédicte Oulès, Marta Bértoli, Mounia Chami, Mélanie Fradin, Yasemin Alanay, L.I. Al-Gazali, Margreet G.E.M. Ausems, Pierre Bitoun, Denise P. Cavalcanti, Alexander Krebs, Martine Le Merrer, Geert Mortier, Yousef Shafeghati, Andrea Superti‐Furga, Stephen P. Robertson, Carine Le Goff, Andrea Onetti Muda, Patrizia Paterlini-Bréchot, Arnold Münnich, Valérie Cormier‐Daire

    Vydáno 2009
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  7. 7
    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment

    Gain-of-Function Mutations in<i>RARB</i>Cause Intellectual Disability with Progressive Motor Impairment Autor Myriam Srour, Véronique Caron, Toni S. Pearson, Sarah B. Nielsen, Sébastien Levesque, Marie-Ange Delrue, Troy A. Becker, Fadi F. Hamdan, Zoha Kibar, Shannon G. Sattler, Michael C. Schneider, Pierre Bitoun, Nicolas Chassaing, Jill A. Rosenfeld, Fan Xia, Sonal Desai, Elizabeth Roeder, Virginia Kimonis, Adele Schneider, Rebecca O. Littlejohn, Sofia Douzgou, André Tremblay, Jacques L. Michaud

    Vydáno 2016
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  8. 8
    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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  9. 9
    SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

    SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations Autor Sébastien Albert, Hélène Blons, Laurence Jonard, Delphine Feldmann, Pierre Chauvin, N. Loundon, Annie Sergent-Allaoui, Muriel Houang, Alain Joannard, S. Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Patrice Tran Ba Huy, Didier Lacombe, F Duriez, Christine Francannet, Pierre Bitoun, Christine Petit, Éréa-Noël Garabédian, Rémy Couderc, Sandrine Marlin, Françoise Denoyelle

    Vydáno 2006
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  10. 10
    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease Autor Jean Muller, Corinne Stoetzel, M. C. Vincent, Carmen C. Leitch, Virginie Laurier, Jean Marc Danse, Sophie Hellé, Vincent Marion, V Bennouna-Greene, Serge Vicaire, André Mégarbané, Josseline Kaplan, Valérie Drouin‐Garraud, M. Hamdani, Sabine Sigaudy, Christine Francannet, J. Roume, Pierre Bitoun, Alice Goldenberg, N. Philip, Sylvie Odent, J. Green, Mireille Cossée, Erica E. Davis, Nicholas Katsanis, Dominique Bonneau, Alain Verloès, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    Vydáno 2010
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  11. 11
    PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

    PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy Autor Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb, Martine Caron-Debarle, Magali Avila, Judith St‐Onge, Martine Le Merrer, Bernard Le Luyer, Delphine Héron, Michèle Mathieu‐Dramard, Pierre Bitoun, Jean‐Michel Petit, Sylvie Odent, Jeanne Amiel, Damien Picot, Virginie Carmignac, Julien Thévenon, Patrick Callier, Martine Laville, Yves Reznik, C. Fagour, Marie‐Laure Nunes, Jacqueline Capeau, Olivier Lascols, Frédéric Huet, Laurence Bonhomme‐Faivre, Corinne Vigouroux, Jean-Baptiste Rivière

    Vydáno 2013
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  12. 12
    CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders

    CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders Autor Bernd Wissinger, Daphne Gamer, Herbert Jägle, Roberto Giorda, Tim Marx, Simone Mayer, Sabine Tippmann, Martina Broghammer, Bernhard Jurklies, Thomas Rosenberg, Samuel G. Jacobson, Emin Cumhur Şener, Sinan Tatlıpınar, Carel B. Hoyng, Claudio Castellan, Pierre Bitoun, Sten Andréasson, Günter Rudolph, Ulrich Kellner, Birgit Lorenz, G. Wolff, Christine Verellen‐Dumoulin, Marianne Schwartz, Frans P.M. Cremers, Eckart Apfelstedt-Sylla, Eberhart Zrenner, R. Salati, Lindsay T. Sharpe, Susanne Kohl

    Vydáno 2001
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  13. 13
    CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

    CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia Autor Susanne Kohl, Balázs Varsányi, Gesine Abadin Antunes, Britta Baumann, Carel B. Hoyng, Herbert Jägle, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, R. Salati, Bernhard Jurklies, Ágnes Farkas, Sten Andréasson, Richard G. Weleber, Samuel G. Jacobson, Günther Rudolph, Claudio Castellan, Hélène Dollfus, Eric Legius, M. Anastasi, Pierre Bitoun, Dorit Lev, Paul A. Sieving, Francis L. Munier, Eberhart Zrenner, Lindsay T. Sharpe, Frans P.M. Cremers, Bernd Wissinger

    Vydáno 2004
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  14. 14
    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

    Expanding the phenotype of the X-linked BCOR microphthalmia syndromes Autor Nicola Ragge, Bertrand Isidor, Pierre Bitoun, Sylvie Odent, Irina Giurgea, Benjamin Cogné, Wallid Deb, Marie Vincent, Jessica Le Gall, Jenny Morton, Derek Lim, Guylène Le Meur, Celia Zazo Seco, Dimitra Zafeiropoulou, Dorine A. Bax, Petra Zwijnenburg, Ana Arteche‐López, Saoud Tahsin Swafiri, Ruth Cleaver, Meriel McEntagart, Usha Kini, William D. Newman, Carmen Ayuso, Marta Cortón, Yvan Herenger, Médéric Jeanne, Patrick Calvas, Nicolas Chassaing

    Vydáno 2018
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  15. 15
    Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

    Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene Autor Françoise Denoyelle, Dominique Weil, Marion A. Maw, S.A. Wilcox, Nicholas Lench, D. R. Allen-Powell, Amelia H. Osborn, H Dahl, Anna Middleton, Mark Houseman, Catherine Dodé, Sandrine Marlin, Amel Boulila‐Elgaied, M’hamed Grati, Hammadi Ayadi, S. Benarab, Pierre Bitoun, Geneviève Lina‐Granade, Jacqueline Godet, Mirna Mustapha, Jacques Loiselet, Elie El‐Zir, Anne Aubois, A Joannard, Jacqueline Levilliers, E.N. Garabédian, R F Mueller, R. J McKinlay Gardner, Christine Petit

    Vydáno 1997
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  16. 16
    CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness Autor Lisa M. Astuto, Julie M. Bork, Michael D. Weston, James W. Askew, Randall R. Fields, Dana J. Orten, S.J. Ohliger, Saima Riazuddin, Robert J. Morell, Shahid Y. Khan, Saima Riazuddin, Hannie Kremer, Peter Van Hauwe, Claes Möller, Cor W. R. J. Cremers, Carmen Ayuso, John R. Heckenlively, Klaus Rohrschneider, U.H. Spandau, Jacquie Greenberg, Raj Ramesar, William Reardon, Pierre Bitoun, Jesús Millán, Richard H. Legge, Thomas B. Friedman, William J. Kimberling

    Vydáno 2002
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  17. 17
    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

    BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects Autor Emma Hilton, Jennifer J. Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro NISHIO, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony T. Moore, David Fitzpatrick, Johannes R. Lemke, Florence Fellmann, François‐Guillaume Debray, Florence Dastot-Le-Moal, Marion Gérard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloès, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly N. Hay, Kim Jenny, Kathreen Johnston, Michael J. Lyons, John W. Belmont, Leslie G. Biesecker, Irina Giurgea, Graeme Black

    Vydáno 2009
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  18. 18
    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect Autor Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann P. Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan J. Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo Laso, Rocío Sánchez‐Carpintero, Jesús Barrio‐Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark T. Handley, Elisabeth Freyer, Allyson Ross, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David Fitzpatrick

    Vydáno 2016
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  19. 19
    Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management

    Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management Autor Mayra Mejía, David A. Dyment, Jørn V. Sagen, Judith St‐Onge, Ute Moog, Brian Hon‐Yin Chung, Sophy Mo, Sahar Mansour, A. Albanese, S. Garcia, David Martin, Ainhoa Abad López, Tor Claudi, Rainer König, S.M. White, S.L. Sawyer, J.A. Bernstein, Lauren Slattery, Rebekah Jobling, G. Yoon, Cynthia J. Curry, M. Le Merrer, Bernard Le Luyer, D. Héron, M. Mathieu‐Dramard, Pierre Bitoun, S. Odent, Jeanne Amiel, Paul Kuentz, J. Thevenon, Marie-Alice Laville, Yves Reznik, C. Fagour, M.L. Nunès, D. Delesalle, Sylvie Manouvrier, Olivier Lascols, Frédéric Huet, Christine Binquet, Laurence Faivre, J Rivière, Corinne Vigouroux, Pål R. Njølstad, A. Micheil Innes, Christel Thauvin-Robinet

    Vydáno 2015
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  20. 20
    Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia

    Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia Autor Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andréasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David G. Birch, Pierre Bitoun, Delphine Blain, Béatrice Bocquet, Kari Branham, Jaume Catalá‐Mora, Elfride De Baere, Hélène Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irène Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Webb-Jones, Herbert Jägle, Andreas Janecke, Ulrich Kellner, Petra Lišková, Birgit Lorenz, Loreto Martorell, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy de Ravel, Charlotte Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, R. Salati, Emin Cumhur Şener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsányi, Richard G. Weleber, Ditta Zobor, Katarína Štingl, Bernd Wissinger, Susanne Kohl

    Vydáno 2022
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