檢索結果 - Brigitte Gilbert‐Dussardier

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  1. 1
    A mutation in the 3′-UTR of the <i>HDAC6</i> gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia

    A mutation in the 3′-UTR of the <i>HDAC6</i> gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplas... 由 Delphine Simon, Benoît Laloo, Malika Barillot, Thomas Barnetche, Camille Blanchard, Caroline Rooryck, Michèle Marche, Ingrid Burgelin, Isabelle Coupry, Nicolas Chassaing, Brigitte Gilbert‐Dussardier, Didier Lacombe, Christophe F. Grosset, Benoı̂t Arveiler

    出版 2010
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  2. 2
    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients

    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients 由 Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, S. Pinson, Marie‐Jeanne Marion, E. Babin, Brigitte Gilbert‐Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu, Thierry Frébourg, Alain Calender, Sophie Giraud

    出版 2006
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  3. 3
    Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)

    Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD) 由 Capucine Hyon, Sandra Chantot‐Bastaraud, Radu Harbuz, Rakia Bhouri, Nicolas Perrot, Matthieu Peycelon, Mathilde Sibony, Sandra Rojo, Xavier Piguel, Frédéric Bilan, Brigitte Gilbert‐Dussardier, Alain Kitzis, Ken McElreavey, Jean‐Pierre Siffroi, Anu Bashamboo

    出版 2015
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  4. 4
    Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

    Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network 由 Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, Fabio Pagella, Marie‐France Carette, Brigitte Gilbert‐Dussardier, Cyril Goizet, J. Roume, Muriel Rabilloud, Jean‐Christophe Saurin, Vincent Cottin, Jérôme Honnorat, Florence Coulet, Sophie Giraud, Alain Calender, Cesare Danesino, Elisabetta Buscarini, Henri Plauchu

    出版 2007
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  5. 5
    Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations

    Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations 由 Guillaume Banneau, Mickaël Guedj, Gaëtan MacGrogan, Isabelle de Mascarel, Valérie Velasco, Renaud Schiappa, Valérie Bonadona, Albert David, Catherine Dugast, Brigitte Gilbert‐Dussardier, Olivier Ingster, P. Vabres, F. Caux, Aurélien de Reyniès, Richard Iggo, Nicolas Sévenet, Françoise Bonnet, Michel Longy

    出版 2010
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  6. 6
    Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia

    Effect of Bevacizumab Nasal Spray on Epistaxis Duration in Hereditary Hemorrhagic Telangectasia 由 Sophie Dupuis‐Girod, A. Ambrun, Évelyne Decullier, Anne‐Emmanuelle Fargeton, Adeline Roux, Valentine Bréant, Bettina Colombet, Sophie Rivière, C. Cartier, Pascal Lacombe, Thierry Chinet, Sandra Blivet, J.-H. Blondel, Brigitte Gilbert‐Dussardier, Xavier Dufour, Justin Michel, Jean‐Robert Harlé, P. Dessi, Frédéric Faure

    出版 2016
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  7. 7
    SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia

    SPRED1, a RAS MAPK pathway inhibitor that causes Legius syndrome, is a tumour suppressor downregulated in paediatric acute myeloblastic leukaemia 由 Éric Pasmant, Brigitte Gilbert‐Dussardier, Arnaud Petit, Bérengère de Laval, Armelle Luscan, Aurélia Gruber, Hélène Lapillonne, Caroline Deswarte, P. Goussard, Ingrid Laurendeau, Benjamin Uzan, Françoise Pflumio, Françoise Brizard, P. Vabres, I Naguibvena, S. Fasola, Frédéric Millot, Françoise Porteu, Dominique Vidaud, Judith Landman‐Parker, Paola Ballerini

    出版 2014
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  8. 8
    Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

    Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations 由 Judith Calvo, Benoît Funalot, Robert Ouvrier, Leïla Lazaro, Annick Toutain, P. De Mas, P. Bouché, Brigitte Gilbert‐Dussardier, Marie‐Christine Arné‐Bes, Jean-Pierre Carrière, Hubert Journel, Marie-Christine Minot-Myhié, Claire Le Guillou, Karima Ghorab, Laurent Magy, Franck Sturtz, Jean‐Michel Vallat, Corinne Magdelaine

    出版 2009
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  9. 9
    Absent <scp>CNKSR</scp>2 causes seizures and intellectual, attention, and language deficits

    Absent <scp>CNKSR</scp>2 causes seizures and intellectual, attention, and language deficits 由 Andrea K. Vaags, Sarah Bowdin, Mary‐Lou Smith, Brigitte Gilbert‐Dussardier, Katja S. Brocke‐Holmefjord, Katia J. Sinopoli, Cindy Gilles, Tove B. Haaland, Catherine Vincent‐Delorme, Emmanuelle Lagrue, Radu Harbuz, Susan Walker, Christian R. Marshall, Gunnar Houge, Vera M. Kalscheuer, Stephen W. Scherer, Berge A. Minassian

    出版 2014
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  10. 10
    Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis

    Mutations in INF2 Are a Major Cause of Autosomal Dominant Focal Segmental Glomerulosclerosis 由 Olivia Boyer, Geneviève Benoît, Olivier Gribouval, Fabien Névo, Marie-Josèphe Tête, Jacques Dantal, Brigitte Gilbert‐Dussardier, Guy Touchard, Alexandre Karras, Claire Presne, Jean‐Pierre Grünfeld, Christophe Legendre, Dominique Joly, Philippe Rieu, Nabil Mohsin, Thierry Hannedouche, Valérie Moal, Marie‐Claire Gubler, Isabelle Broutin, Géraldine Mollet, Corinne Antignac

    出版 2011
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  11. 11
    Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

    Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions 由 Darío G. Lupiáñez, Katerina Kraft, Verena Heinrich, Peter Krawitz, Francesco Brancati, Eva Klopocki, Denise Horn, Hülya Kayserili, John M. Opitz, Renata Laxová, Fernando Santos‐Simarro, Brigitte Gilbert‐Dussardier, Lars Wittler, Marina Borschiwer, Stefan A. Haas, Marco Osterwalder, Martin Franke, Bernd Timmermann, Jochen Hecht, Malte Spielmann, Axel Visel, Stefan Mundlos

    出版 2015
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  12. 12
    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions 由 Darci T. Butcher, Cheryl Cytrynbaum, Andrei L. Turinsky, Michelle T. Siu, Michal Inbar‐Feigenberg, Roberto Mendoza‐Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu, Lucie Dupuis, Daria Grafodatskaya, William Reardon, Brigitte Gilbert‐Dussardier, Alain Verloès, Frédéric Bilan, Jeff M. Milunsky, Raveen Basran, Blake C. Papsin, Tracy Stockley, Stephen W. Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg

    出版 2017
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  13. 13
    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females 由 Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel‐An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman‐Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, A. Dusser, Marie Bru, Brigitte Gilbert‐Dussardier, Agathe Roubertie, Anna Kaminśka, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaëtan Lesca, Alexis Arzimanoglou, Eric Leguern

    出版 2010
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  14. 14
    Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial

    Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial 由 Sophie Dupuis‐Girod, Sophie Rivière, Christian Lavigne, Anne‐Emmanuelle Fargeton, Brigitte Gilbert‐Dussardier, Vincent Grobost, V. Leguy‐Seguin, Hélène Maillard, S. Mohamed, Évelyne Decullier, Adeline Roux, Lorraine Bernard, Jean‐Christophe Saurin, N. Saroul, Frédéric Faure, C. Cartier, Romain Altwegg, Laurent Laccourreye, F. Oberti, Marjolaine Beaudoin, C. Dhelens, Céline Desvignes, Nicolas Azzopardi, Gilles Paintaud, Ruben Hermann, Thierry Chinet

    出版 2023
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  15. 15
    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

    Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia 由 Nicolas Chassaing, Alexandre Causse, Adeline Vigouroux, Andrée Delahaye‐Duriez, Jean‐Luc Alessandri, Odile Boespflug‐Tanguy, Odile Boute‐Bénéjean, Hélène Dollfus, Bénédicte Duban‐Bedu, Brigitte Gilbert‐Dussardier, Fabienne Giuliano, M. Gonzalés, Muriel Holder‐Espinasse, Bertrand Isidor, M. Jacquemont, Didier Lacombe, Dominique Martin–Coignard, M. Mathieu‐Dramard, Sylvie Odent, Olivier Picone, L Pinson, Chloé Quēlin, Sabine Sigaudy, Annick Toutain, Christel Thauvin-Robinet, Josseline Kaplan, Patrick Calvas

    出版 2013
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  16. 16
    Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

    Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants 由 Evgeny Z. Kvon, Yiwen Zhu, Guy Kelman, Catherine S. Novak, Ingrid Plajzer-Frick, Momoe Kato, Tyler H. Garvin, Quan Pham, Anne Harrington, Riana D. Hunter, Janeth Godoy, Eman M. Meky, Jennifer A. Akiyama, Veena Afzal, Stella Tran, Fabienne Escande, Brigitte Gilbert‐Dussardier, Nolwenn Jean‐Marçais, Sanjarbek Hudaiberdiev, Ivan Ovcharenko, Matthew B. Dobbs, Christina A. Gurnett, Sylvie Manouvrier‐Hanu, Florence Petit, Axel Visel, Diane E. Dickel, L Pennacchio

    出版 2020
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  17. 17
    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature

    Molecular and clinical characterization of 25 individuals with exonic deletions of <i>NRXN1</i> and comprehensive review of the literature 由 Frédérique Béna, Damien L. Bruno, Mats Eriksson, Conny M.A. van Ravenswaaij‐Arts, Zornitza Stark, Trijnie Dijkhuizen, Erica H. Gerkes, Stefania Gimelli, Devika Ganesamoorthy, Ann‐Charlotte Thuresson, Audrey Labalme, Marianne Till, Frédéric Bilan, Laurent Pasquier, Alain Kitzis, Christele Dubourgm, Massimiliano Rossi, Armand Bottani, Maryline Gagnebin, Damien Sanlaville, Brigitte Gilbert‐Dussardier, Michel Guipponi, Arie van Haeringen, Marjolein Kriek, Claudia Ruivenkamp, Stylianos E. Antonarakis, Britt Marie Anderlid, Howard R. Slater, Jacqueline Schoumans

    出版 2013
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  18. 18
    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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  19. 19
    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability

    De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene<i>CHAMP1</i>Cause Syndromic Intellectual Disability 由 Bertrand Isidor, Sébastien Küry, Jill A. Rosenfeld, Thomas Besnard, Sébastien Schmitt, Shelagh Joss, Sally Davies, Robert Roger Lebel, Alex Henderson, Christian P. Schaaf, Haley Streff, Yaping Yang, Vani Jain, Nodoka Chida, Xénia Latypova, Cédric Le Caignec, Benjamin Cogné, Sandra Mercier, Marie Vincent, Estelle Colin, Dominique Bonneau, Anne‐Sophie Denommé‐Pichon, Philippe Parent, Brigitte Gilbert‐Dussardier, Sylvie Odent, Annick Toutain, Amélie Piton, Christian Dina, Audrey Donnart, Pierre Lindenbaum, Éric Charpentier, Richard Redon, Kenji Iemura, Masanori Ikeda, Kozo Tanaka, Stéphane Bézieau

    出版 2016
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  20. 20
    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort 由 Josephina Meester, Maja Sukalo, Kim Schroder, Denny Schanze, Gareth Baynam, Guntram Borck, Nuria C. Bramswig, Duygu Duman, Brigitte Gilbert‐Dussardier, Muriel Holder‐Espinasse, Peter Itin, Diana Johnson, Shelagh Joss, Hannele Koillinen, F. Ellis McKenzie, Jenny Morton, Heike Nelle, William Reardon, Claudia Roll, Mustafa A. Salih, Ravi Savarirayan, Ingrid Scurr, Miranda Splitt, Elizabeth Thompson, Hannah Titheradge, Colm P. Travers, Lionel Van Maldergem, Margo Whiteford, Dagmar Wieczorek, Geert Vandeweyer, Richard C. Trembath, Lut Van Laer, Bart Loeys, Martin Zenker, Laura Southgate, Wim Wuyts

    出版 2018
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