Hakutulokset - Christèle Dubourg

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  1. 1
    Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

    Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients Tekijä Daniel Pineda‐Alvarez, Christèle Dubourg, Véronique David, Erich Roessler, Maximilian Muenke

    Julkaistu 2010
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  2. 2
    Homozygous deletion of an 80kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy

    Homozygous deletion of an 80kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy Tekijä Virginie Vauthier, Sylvie Jaillard, Hubert Journel, Christèle Dubourg, Ralf Jockers, Julie Dam

    Julkaistu 2012
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  3. 3
    Holoprosencephaly: An update on cytogenetic abnormalities

    Holoprosencephaly: An update on cytogenetic abnormalities Tekijä Claude Bendavid, Valérie Dupé, Lucie Rochard, Isabelle Gicquel, Christèle Dubourg, Véronique David

    Julkaistu 2010
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  4. 4
    Holoprosencephaly

    Holoprosencephaly Tekijä Christèle Dubourg, Claude Bendavid, Laurent Pasquier, Cathérine Henry, Sylvie Odent, Véronique David

    Julkaistu 2007
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  5. 5
    Recent advances in understanding inheritance of holoprosencephaly

    Recent advances in understanding inheritance of holoprosencephaly Tekijä Christèle Dubourg, Artem Kim, Erwan Watrin, Marie de Tayrac, Sylvie Odent, Véronique David, Valérie Dupé

    Julkaistu 2018
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  6. 6
    Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly

    Functional Characterization of Sonic Hedgehog Mutations Associated with Holoprosencephaly Tekijä Élisabeth Traiffort, Christèle Dubourg, Hélène Faure, Didier Rognan, Sylvie Odent, Marie‐Renée Durou, Véronique David, Martial Ruat

    Julkaistu 2004
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  7. 7
    Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans

    Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans Tekijä Erich Roessler, Yong Ma, Maia V. Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A. Beachy, Maximilian Muenke

    Julkaistu 2009
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  8. 8
    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 Tekijä Jean‐Jacques Patard, Nathalie Rioux‐Leclercq, Damien Masson, Salim Zerrouki, Florence Jouan, Nicolas Collet, Christèle Dubourg, Bernard Lobel, Marc G. Denis, Patricia Fergelot

    Julkaistu 2009
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  9. 9
    Analysis of genotype–phenotype correlations in human holoprosencephaly

    Analysis of genotype–phenotype correlations in human holoprosencephaly Tekijä Benjamin D. Solomon, Sandra Mercier, Jorge I. Vélez, Daniel Pineda‐Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Véronique David, Sylvie Odent, Erich Roessler, Maximilian Muenke

    Julkaistu 2010
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  10. 10
    Phenotypic and molecular variability of the holoprosencephalic spectrum

    Phenotypic and molecular variability of the holoprosencephalic spectrum Tekijä Leïla Lazaro, Christèle Dubourg, Laurent Pasquier, Franck Le Duff, Martine Blayau, Marie‐Renée Durou, Armelle Thomas de la Pintière, Céline Aguilella, Véronique David, Sylvie Odent

    Julkaistu 2004
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  11. 11
    Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

    Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing Tekijä Charlotte Mouden, Christèle Dubourg, Wilfrid Carré, Sophie Rose, C. Quelin, Linda Akloul, Houda Hamdi‐Rozé, Géraldine Viot, H. Salhi, P. Darnault, S. Odent, Valérie Dupé, Véronique David

    Julkaistu 2016
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  12. 12
    Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein

    Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein Tekijä Yongsu Jeong, Federico Coluccio Leskow, Kênia Balbi El-Jaick, Erich Roessler, Maximilian Muenke, Anastasia K. Yocum, Christèle Dubourg, Xue Li, Xin Geng, Guillermo Oliver, Douglas J. Epstein

    Julkaistu 2008
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  13. 13
    Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

    Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci Tekijä Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard, Cédric Le Caignec, Christèle Dubourg, Philippe Loget, Bernard‐Jean Paniel, Sylvie Odent, Véronique David, Isabelle Pellerin, Claude Bendavid, Daniel Guerrier

    Julkaistu 2011
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  14. 14
    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome

    <scp><i>GREB1L</i></scp> variants in familial and sporadic hereditary urogenital adysplasia and <scp>Mayer‐Rokitansky‐Kuster‐Hauser</scp> syndrome Tekijä Adeline Jacquinet, Bouchra Boujemla, Corinne Fasquelle, Jérôme Thiry, Claire Josse, Aimé Lumaka, Elise Brischoux‐Boucher, Christèle Dubourg, Véronique David, Laurent Pasquier, Anna Lehman, Karine Morcel, Daniel Guerrier, Vincent Bours

    Julkaistu 2020
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  15. 15
    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases Tekijä Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo‐Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid, Sylvie Jaillard, Lucie Rochard, C. Quelin, Valérie Dupé, Véronique David, Sylvie Odent

    Julkaistu 2011
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  16. 16
    New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

    New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects Tekijä Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur E Shmela, Laurence Faivre, Jacques Weill, Sylvie Odent, Salah Azzi, Patrick Callier, Josette Lucas, Christèle Dubourg, Joris Andrieux, Yves Le Bouc, Assam El‐Osta, Christine Gicquel

    Julkaistu 2011
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  17. 17
    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand... Tekijä Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel Pineda‐Alvarez, Felicitas Lacbawan, Nan Zhou, Maia V. Ouspenskaia, Aimée Paulussen, Hubert Smeets, Ute Hehr, Claude Bendavid, Sherri J. Bale, Sylvie Odent, Véronique David, Maximilian Muenke

    Julkaistu 2009
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  18. 18
    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome

    <i>TCF4</i>Deletions in Pitt-Hopkins Syndrome Tekijä Irina Giurgea, Chantal Missirian, Pierre Cacciagli, Sandra Whalen, Tessa Fredriksen, Thierry Gaillon, Julia Rankin, Michèle Mathieu‐Dramard, G Morin, Dominique Martin–Coignard, Christèle Dubourg, B. Chabrol, Jacqueline Arfi, Fabienne Giuliano, Jean Claude Lambert, Nicole Philip, Pierre Sarda, Laurent Villard, Michel Goossens, Anne Moncla

    Julkaistu 2008
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  19. 19
    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... Tekijä Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean Pierre Kerckaert, Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier‐Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau

    Julkaistu 2009
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  20. 20
    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 Tekijä 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

    Julkaistu 2009
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