Resultados de procura - Delphine Héron

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  1. 1
    Coffin–Lowry syndrome

    Coffin–Lowry syndrome por Patricia Marques Pereira, Anne Schneider, Solange Pannetier, Delphine Héron, André Hanauer

    Publicado 2009
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  2. 2
    Characterization of a Germ-Line Deletion, Including the Entire <i>INK4/ARF</i> Locus, in a Melanoma-Neural System Tumor Family: Identification of <i>ANRIL</i>, an Antisense Noncoding RNA Whose Expression Coclusters with <i>ARF</i>

    Characterization of a Germ-Line Deletion, Including the Entire <i>INK4/ARF</i> Locus, in a Melanoma-Neural System Tumor Family: Identification of <i>ANRIL</i>, an Antisense Noncodi... por Éric Pasmant, Ingrid Laurendeau, Delphine Héron, Michel Vidaud, Dominique Vidaud, Ivan Bièche

    Publicado 2007
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  3. 3
    Autism, language delay and mental retardation in a patient with 7q11 duplication

    Autism, language delay and mental retardation in a patient with 7q11 duplication por Christel Depienne, Delphine Héron, Catalina Betancur, B Benyahia, Oriane Trouillard, Delphine Bouteiller, Alain Verloès, Eric LeGuern, Marion Leboyer, Alexis Brice

    Publicado 2007
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  4. 4
    Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1

    Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1 por Marie Douniol, Aurélia Jacquette, David Cohen, Nicolas Bodeau, Linda Rachidi, Nathalie Angeard, Jean‐Marie Cuisset, Louis Vallée, B. Eymard, Monique Plaza, Delphine Héron, Jean-Marc Guilé

    Publicado 2012
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  5. 5
    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

    STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients por Cyril Mignot, Marie‐Laure Moutard, Oriane Trouillard, Isabelle Gourfinkel‐An, Aurélia Jacquette, Benoı̂t Arveiler, Fanny Morice‐Picard, Didier Lacombe, Catherine Chiron, Dorothée Ville, Perrine Charles, Eric Leguern, Christel Depienne, Delphine Héron

    Publicado 2011
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  6. 6
    Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome

    Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome por Hélène Darville, Aurélie Poulet, Frédérique Rodet-Amsellem, Laure Chatrousse, Julie Pernelle, Claire Boissart, Delphine Héron, Caroline Nava, Anselme L. Perrier, Margot Jarrige, Francis Cogé, Mark J. Millan, Thomas Bourgeron, Marc Peschanski, Richard Delorme, Alexandra Benchoua

    Publicado 2016
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  7. 7
    Key clinical features to identify girls with CDKL5 mutations

    Key clinical features to identify girls with CDKL5 mutations por Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas, Mathieu Milh, Nathalie Boddaert, Benoı̂t Girard, Claude Cancès, Dorothée Ville, Alexandra Afenjar, Marlène Rio, Delphine Héron, Marie Ange N'Guyen Morel, Alexis Arzimanoglou, Christophe Philippe, Philippe Jonveaux, Jamel Chelly, Thierry Bienvenu

    Publicado 2008
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  8. 8
    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome por Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An, Cécile Saint‐Martin, Delphine Bouteiller, Denis Graber, Marie‐Anne Barthez‐Carpentier, Agnès Gautier, Nathalie Villeneuve, Charlotte Dravet, Marie-Odile Livet, Clotilde Rivier-Ringenbach, Claude Adam, Sabrina Dupont, Stéphanie Baulac, Delphine Héron, Rima Nabbout, Eric Leguern

    Publicado 2010
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  9. 9
    A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

    A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies por Kevin C. Nixon, Justine Rousseau, Max H. Stone, Mohammed Sarikahya, Sophie Ehresmann, Seiji Mizuno, Naomichi Matsumoto, Noriko Miyake, Diana Baralle, Shane McKee, Kosuke Izumi, Alyssa Ritter, Solveig Heide, Delphine Héron, Christel Depienne, Hannah Titheradge, Jamie M. Kramer, Philippe M. Campeau

    Publicado 2019
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  10. 10
    Spectrum of epilepsy in terminal 1p36 deletion syndrome

    Spectrum of epilepsy in terminal 1p36 deletion syndrome por 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

    Publicado 2007
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  11. 11
    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome por Caroline Nava, Nadine Hanna, Caroline Michot, Sérgio L. Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yasuhiro Aoki, Yoichi Matsubara, Benoı̂t Arveiler, Didier Lacombe, Éric Pasmant, B. Parfait, Clarisse Baumann, Delphine Héron, S. Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloès, Hélène Cavé

    Publicado 2007
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  12. 12
    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 por 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

    Publicado 2009
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  13. 13
    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

    Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders por Caroline Nava, Boris Keren, Cyril Mignot, Agnès Rastetter, Sandra Chantot‐Bastaraud, Anne Faudet, Eric Fonteneau, Claire Amiet, Claudine Laurent, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Diane Doummar, Nathalie Dorison, Marion Leboyer, Jean‐Pierre Siffroi, David Cohen, Alexis Brice, Delphine Héron, Christel Depienne

    Publicado 2013
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  14. 14
    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

    Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders por Christel Depienne, Daniel Moreno‐De‐Luca, Delphine Héron, Delphine Bouteiller, Aurélie Gennetier, Richard Delorme, Pauline Chaste, Jean‐Pierre Siffroi, Sandra Chantot‐Bastaraud, B Benyahia, Oriane Trouillard, Gudrun Nygren, Svenny Kopp, Maria Johansson, Maria Råstam, Lydie Bürglen, Eric Leguern, Alain Verloès, Marion Leboyer, Alexis Brice, Christopher Gillberg, Catalina Betancur

    Publicado 2009
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  15. 15
    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome

    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome por Pascale Saugier‐Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin‐Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder‐Espinasse, J. Roume, Valérie Malan, Marie‐France Portnoï, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier‐Daire, Thierry Billette de Villemeur, Thierry Frébourg, Lydie Bürglen

    Publicado 2007
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  16. 16
    Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome

    Mutational, functional, and expression studies of the<i>TCF4</i>gene in Pitt-Hopkins syndrome por Loïc de Pontual, Yves Mathieu, Christelle Golzio, Marlène Rio, Valérie Malan, Nathalie Boddaert, Christine Soufflet, Capucine Pïcard, Anne Durandy, Angus Dobbie, Delphine Héron, Bertrand Isidor, Jacques Motté, Ruth Newburry-Ecob, Laurent Pasquier, Marc Tardieu, G��raldine Viot, Francis Jaubert, Arnold Münnich, Laurence Colleaux, Michel Vekemans, Heather Etchevers, Stanislas Lyonnet, Jeanne Amiel

    Publicado 2009
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  17. 17
    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

    29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype por Marie‐Lorraine Monin, Cyril Mignot, Pascale de Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu‐Dramard, C Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire De Barace, Valérie Drouin‐Garraud, Philippe Khau Van Kien, Valérie Cormier‐Daire, M. Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron

    Publicado 2014
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  18. 18
    Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

    Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders por Christelle M. Durand, Catalina Betancur, Tobias M. Boeckers, Juergen Bockmann, Pauline Chaste, Fabien Fauchereau, Gudrun Nygren, Maria Råstam, I. Carina Gillberg, Henrik Anckarsäter, Eili Sponheim, Hany Goubran‐Botros, Richard Delorme, Nadia Chabane, Marie‐Christine Mouren‐Siméoni, P. De Mas, Éric Bieth, Bernadette Rogé, Delphine Héron, Lydie Bürglen, Christopher Gillberg, Marion Leboyer, Thomas Bourgeron

    Publicado 2006
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  19. 19
    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

    Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE por Caroline Nava, Foudil Lamari, Delphine Héron, Cyril Mignot, Agnès Rastetter, Boris Keren, David Cohen, Anne Faudet, Delphine Bouteiller, Martine Gilleron, Aurélia Jacquette, Sandra Whalen, Alexandra Afenjar, Didier Périsse, Claudine Laurent, Céline Dupuits, Cécile Gautier, Marion Gérard, Guillaume Huguet, S Caillet, Bruno Leheup, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron, Alexis Brice, Christel Depienne

    Publicado 2012
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  20. 20
    Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission

    Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission por Theofanis Karayannis, Edmund Au, Jyoti C. Patel, Ilya Kruglikov, Sander Markx, Richard Delorme, Delphine Héron, D. Salomon, Joseph Glessner, Sophie Restituito, Aaron Gordon, Laura Rodriguez‐Murillo, Natalie Roy, Joseph A. Gogos, Bernardo Rudy, Margaret E. Rice, Maria Karayiorgou, Hákon Hákonarson, Boris Keren, Guillaume Huguet, Thomas Bourgeron, Charles A. Hoeffer, Richard W. Tsien, Elior Peles, Gord Fishell

    Publicado 2014
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