Search Results - Chérif Beldjord

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  1. 1
    Genetics and pathophysiology of mental retardation

    Genetics and pathophysiology of mental retardation by Jamel Chelly, Malik Khelfaoui, Fiona Francis, Chérif Beldjord, Thierry Bienvenu

    Published 2006
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  2. 2
    Parental origin of de novo MECP2 mutations in Rett syndrome

    Parental origin of de novo MECP2 mutations in Rett syndrome by M Girard, Philippe Couvert, Alain Carrié, Marc Tardieu, Jamel Chelly, Chérif Beldjord, T. Bienvenu

    Published 2001
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  3. 3
    Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A

    Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A by Catherine Fallet‐Bianco, Laurence Lœuillet, Karine Poirier, Philippe Loget, Françoise Chapon, Laurent Pasquier, Yoann Saillour, Chérif Beldjord, Jamel Chelly, Fiona Francis

    Published 2008
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  4. 4
    Human disorders of cortical development: from past to present

    Human disorders of cortical development: from past to present by Fiona Francis, Gundela Meyer, Catherine Fallet‐Bianco, Sarah Moreno, Caroline Kappeler, Alfredo Cabrera Socorro, Françoise Phan Dinh Tuy, Chérif Beldjord, Jamel Chelly

    Published 2006
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  5. 5
    Somatic mutations of the β-catenin gene are frequent in mouse and human hepatocellular carcinomas

    Somatic mutations of the β-catenin gene are frequent in mouse and human hepatocellular carcinomas by Alix de La Coste, Béatrice Romagnolo, Pierre Billuart, Claire-Angélique Renard, Marie‐Annick Buendia, Olivier Soubrane, Monique Fabrè, Jamel Chelly, Chérif Beldjord, Axel Kahn, Christine Perret

    Published 1998
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  6. 6
    New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression

    New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression by Justine Bouilly, Florence Roucher‐Boulez, Anne Gompel, Hélène Bry‐Gauillard, K. Azibi, Chérif Beldjord, Catherine Dodé, Jérôme Bouligand, A. Mantel, A.C. Hécart, Brigitte Delemer, Jacques Young, Nadine Binart

    Published 2014
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  7. 7
    Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

    Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria by Karine Poirier, Yoann Saillour, Franck J. Fourniol, Fiona Francis, Isabelle Souville, Stéphanie Valence, Isabelle Desguerre, Jean Marie Lepage, Nathalie Boddaert, Marine Line Jacquemont, Chérif Beldjord, Jamel Chelly, Nadia Bahi‐Buisson

    Published 2012
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  8. 8
    Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

    Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency by Justine Bouilly, Isabelle Beau, Sara Barraud, Valérie Bernard, K. Azibi, Jérôme Fagart, Anne Fèvre, Anne‐Laure Todeschini, Reiner A. Veitia, Chérif Beldjord, Brigitte Delemer, Catherine Dodé, Jacques Young, Nadine Binart

    Published 2016
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  9. 9
    The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

    The wide spectrum of tubulinopathies: what are the key features for the diagnosis? by Nadia Bahi‐Buisson, Karine Poirier, Franck J. Fourniol, Yoann Saillour, Stéphanie Valence, Nicolas Lebrun, Marie Hully, Catherine Fallet Bianco, Nathalie Boddaert, Caroline Elie, Karine Lascelles, Isabelle Souville, Chérif Beldjord, Jamel Chelly

    Published 2014
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  10. 10
    A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome

    A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome by Vincent des Portes, Jean Marc Pinard, Pierre Billuart, Marie Claude Vinet, Annette Koulakoff, Alain Carrié, A. Gélot, Elisabeth Dupuis, Jacques Motté, Yoheved Berwald‐Netter, Martin Catala, Axel Kahn, Chérif Beldjord, Jamel Chelly

    Published 1998
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  11. 11
    Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1

    Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1 by Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, Véronique Fressart, Chérif Beldjord, Kamel Azibi, Arnaud Lazarus, Nawal Berber, Hélène Radvanyi-Hoffman, Tanya Stojkovic, Anthony Béhin, Pascal Laforêt, B. Eymard, Stéphane N. Hatem, Denis Duboc

    Published 2013
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  12. 12
    New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum

    New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum by Nadia Bahi‐Buisson, Isabelle Souville, Franck J. Fourniol, Aurélie Toussaint, Carolyn A. Moores, Anne Houdusse, Jean Yves Lemaitre, Karine Poirier, Reham Khalaf‐Nazzal, Marie Hully, Pierre Louis Léger, Caroline Elie, Nathalie Boddaert, Chérif Beldjord, Jamel Chelly, Fiona Francis

    Published 2013
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  13. 13
    GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex

    GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex by Nadia Bahi‐Buisson, Karine Poirier, Nathalie Boddaert, Catherine Fallet‐Bianco, Nicola Specchio, Enrico Bertini, Ahmet Okay Çağlayan, Karine Lascelles, Caroline Elie, Jérôme Rambaud, Michel Baulac, Isabelle An, Patrícia Dias, Vincent des Portes, Marie Laure Moutard, Christine Soufflet, Monique El Maleh, Chérif Beldjord, Laurent Villard, Jamel Chelly

    Published 2010
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  14. 14
    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

    Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly by Catherine Fallet‐Bianco, Annie Laquerrière, Karine Poirier, Ferechté Razavi, Fabien Guimiot, Patrícia Dias, Laurence Lœuillet, Karine Lascelles, Chérif Beldjord, Nathalie Carion, Aurélie Toussaint, Nicole Revençu, Marie‐Claude Addor, Benoît Lhermitte, Marie Gonzalès, Jelena Martinovich, Bettina Bessières, Maryse Marcy-Bonnière, Frédérique Jossic, Pascale Marcorelles, Philippe Loget, Jamel Chelly, Nadia Bahi‐Buisson

    Published 2014
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  15. 15
    LIS1-Related Isolated Lissencephaly

    LIS1-Related Isolated Lissencephaly by Yoann Saillour, Nathalie Carion, Chloé Quēlin, Pierre‐Louis Léger, Nathalie Boddaert, Caroline Elie, Annick Toutain, Sandra Mercier, Marie Anne Barthez, Mathieu Milh, Sylvie Joriot, Vincent des Portes, Nicole Philip, D Broglin, Agathe Roubertie, G. Pitelet, Marie Laure Moutard, J.-M. Pinard, Clément Cancès, Claude Cancès, Anna Kaminśka, Jamel Chelly, Chérif Beldjord, Nadia Bahi‐Buisson

    Published 2009
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  16. 16
    Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

    Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria by 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

    Published 2009
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  17. 17
    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>)

    Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (<i>TUBA1A</i>) by Karine Poirier, David A. Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet‐Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie‐Laure Moutard, Jean‐Pierre Fryns, Hilde Van Esch, Victoria L. Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord, Jamel Chelly

    Published 2007
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  18. 18
    MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

    MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression by Suzanna G.M. Frints, Steffen Lenzner, Mareike Bauters, Lars Riff Jensen, Hilde Van Esch, Vincent des Portes, Ute Moog, Merryn Macville, Kees van Roozendaal, C T R M Schrander-Stumpel, Andreas Tzschach, Peter Marynen, Jean‐Pierre Fryns, Ben C.J. Hamel, Hans van Bokhoven, Jamel Chelly, Chérif Beldjord, Gillian Turner, Jozef Gécz, Claude Moraine, Martine Raynaud, Hans Hilger Ropers, Guy Froyen, Andreas W. Kuß

    Published 2008
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  19. 19
    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium by Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanna G.M. Frints, Guy Froyen, Jean‐Pierre Fryns, Martine Raynaud, Marie‐Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, L. Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gécz, Andreas W. Kuß, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans‐Hilger Ropers, Ben C.J. Hamel

    Published 2007
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  20. 20
    Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

    Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia by Loïc Broix, Hélène Jagline, Ekaterina L. Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton‐Smith, Alistair T. Pagnamenta, Kay Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C. Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen, Gabrielle Rudolf, Giuseppe Muraca, Benjamin Saintpierre, Adrienne Elmorjani, Martin Moïse, Nathalie Bednarek Weirauch, Renzo Guerrini, Anne Boland, Robert Olaso, Cécile Masson, Ratna Tripathy, David A. Keays, Chérif Beldjord, Laurent Nguyen, Juliette D. Godin, Usha Kini, Patrick Nischké, Jean‐François Deleuze, Nadia Bahi‐Buisson, Izabela Sumara, María-Victoria Hinckelmann, Jamel Chelly

    Published 2016
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