نتائج البحث - Lydie Bürglen

تنقيح النتائج
  1. 1
    Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.

    Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. حسب P Burlet, Lydie Bürglen, Olivier Clermont, S. Lefebvre, Louis Viollet, Arnold Münnich, Judith Melki

    منشور في 1996
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  2. 2
    Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome

    Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome حسب Véronique Gaston, Yves Le Bouc, V. Soupre, Lydie Bürglen, Jeam Donadieu, Hubert Oro, G. Audry, Marie‐Paule Vazquez, Christine Gicquel

    منشور في 2001
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  3. 3
    Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.

    Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association. حسب Lydie Bürglen, Jeanne Amiel, Louis Viollet, S. Lefebvre, P Burlet, Olivier Clermont, Valérie Raclin, P. Landrieu, Alain Verloès, Arnold Münnich, Judith Melki

    منشور في 1996
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  4. 4
    Identification and characterization of a spinal muscular atrophy-determining gene

    Identification and characterization of a spinal muscular atrophy-determining gene حسب Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet, Olivier Clermont, Philippe Burlet, Louis Viollet, Bernard Bénichou, Corinne Cruaud, Philippe Millasseau, Massimo Zeviani, Denis Le Paslier, J Frézal, Daniel Cohen, Jean Weissenbach, Arnold Münnich, Judith Melki

    منشور في 1995
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  5. 5
    MFN2, a new gene responsible for mitochondrial DNA depletion

    MFN2, a new gene responsible for mitochondrial DNA depletion حسب Florence Renaldo, Patrizia Amati‐Bonneau, Abdelhamid Slama, C. Romaña, V. Forin, Diane Doummar, Christine Barnérias, Joseph Bursztyn, M. Mayer, N. Khouri, Thierry Billette de Villemeur, Lydie Bürglen, Pascal Reynier, A. Gélot, Diana Rodriguez

    منشور في 2012
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  6. 6
    Spectrum of epilepsy in terminal 1p36 deletion syndrome

    Spectrum of epilepsy in terminal 1p36 deletion syndrome حسب 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

    منشور في 2007
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  7. 7
    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

    Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient حسب Lydie Bürglen, Sandra Chantot‐Bastaraud, Cathérine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leïla Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean‐Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

    منشور في 2012
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  8. 8
    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 حسب 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

    منشور في 2009
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  9. 9
    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome

    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome حسب 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

    منشور في 2007
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  10. 10
    OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome

    OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome حسب Véronique Chevrier, Ange‐Line Bruel, Teunis J. P. van Dam, Brunella Franco, Melissa Lo Scalzo, Frédérique Lembo, Stéphane Audebert, Emilie Baudelet, Daniel Isnardon, Angélique Bôle, Jean‐Paul Borg, Paul Kuentz, Julien Thévenon, Lydie Bürglen, Laurence Faivre, Jean‐Baptiste Rivière, Martijn A. Huynen, Daniel Birnbaum, Olivier Rosnet, Christel Thauvin‐Robinet

    منشور في 2015
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  11. 11
    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 حسب 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

    منشور في 2006
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  12. 12
    Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

    Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression حسب Cyril Mignot, Emmanuelle Apartis, Alexandra Dürr, Charles Marques Lourenço, Perrine Charles, David Devos, Caroline Moreau, Pascale de Lonlay, Nathalie Drouot, Lydie Bürglen, Nadine Kempf, Elsa Nourisson, Sandra Chantot‐Bastaraud, Anne-Sophie Lèbre, Marlène Rio, Yves Chaix, Éric Bieth, Emmanuel Roze, I Bonnet, Sandrine Canaple, Coralie Rastel, Alexis Brice, Agnès Rötig, Isabelle Desguerre, Christine Tranchant, Michel Kœnig, Mathieu Anheim

    منشور في 2013
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  13. 13
    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

    Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients حسب Elouan Chérot, Boris Keren, Christèle Dubourg, Wilfried Carré, Mélanie Fradin, Alinoë Lavillaureix, Alexandra Afenjar, Lydie Bürglen, Sandra Whalen, Perrine Charles, Isabelle Marey, Solveig Heide, Aurélia Jacquette, Delphine Héron, Diane Doummar, Diana Rodriguez, T Billette de Villemeur, M.L. Moutard, Agnès Guët, Jean Xavier, Didier Périsse, David Cohen, Florence Démurger, Chloé Quēlin, Christel Depienne, Sylvie Odent, Caroline Nava, Véronique David, Laurent Pasquier, Cyril Mignot

    منشور في 2017
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  14. 14
    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies

    Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic ence... حسب Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Cathérine Garel, Sandra Chantot‐Bastaraud, Élodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Héron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie‐Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Bürglen

    منشور في 2018
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  15. 15
    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

    Mutations of the Imprinted<i>CDKN1C</i>Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization حسب Frédéric Brioude, Irène Netchine, Françoise Praz, Marilyne Le Jule, Claire Calmel, Didier Lacombe, Patrick Edery, Martin Catala, Sylvie Odent, Bertrand Isidor, Stanislas Lyonnet, Sabine Sigaudy, Bruno Leheup, Séverine Audebert‐Bellanger, Lydie Bürglen, Fabienne Giuliano, Jean‐Luc Alessandri, Valérie Cormier‐Daire, Fanny Laffargue, Sophie Blesson, Isabelle Coupier, James Lespinasse, Patricia Blanchet, Odile Boute, Clarisse Baumann, Michel Polak, Bérénice Doray, Alain Verloès, Géraldine Viot, Yves Le Bouc, Sylvie Rossignol

    منشور في 2015
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  16. 16
    A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

    A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium حسب Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre, Alessia Micalizzi, Marta Romani, Avinash Abhyankar, Julien Saada, Isabelle Perrault, Jeanne Amiel, Julie Litzler, Emilie Filhol, Nadia Elkhartoufi, Mandy Kwong, Jean‐Laurent Casanova, Nathalie Boddaert, Wolfgang Baehr, Stanislas Lyonnet, Arnold Münnich, Lydie Bürglen, Nicolas Chassaing, Ferechté Encha-Ravazi, Michel Vekemans, Joseph G. Gleeson, Enza Maria Valente, Peter K. Jackson, Iain A. Drummond, Sophie Saunier, Tania Attié‐Bitach

    منشور في 2013
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  17. 17
    TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

    TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome حسب Nils J. Lambacher, Ange‐Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin McManus, Julie Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Bürglen, Diane Doummar, Jean‐Baptiste Rivière, Laurence Faivre, Tania Attié‐Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin‐Robinet, Oliver E. Blacque

    منشور في 2015
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  18. 18
    Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome

    Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome حسب Danai Bem, Shin‐ichiro Yoshimura, Ricardo Bastos, F. F. Bond, Manju A. Kurian, Fatima Rahman, Mark T. Handley, Yavor Hadzhiev, Imran Masood, Ania Straatman‐Iwanowska, Andrew R. Cullinane, Alisdair McNeill, Shanaz Pasha, Gail Kirby, Katharine Foster, Zubair Ahmed, Jenny E.V. Morton, Denise Williams, John M. Graham, William B. Dobyns, Lydie Bürglen, John R. Ainsworth, Paul Gissen, Ferenc Müller, Eamonn R. Maher, Francis A. Barr, Irene A. Aligianis

    منشور في 2011
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  19. 19
    Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

    Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome حسب S. Gerber, Kamil J. Alzayady, Lydie Bürglen, Dominique Brémond‐Gignac, Valentina Marchesin, Olivier Roche, Marlène Rio, Benoît Funalot, Raphaël Calmon, Alexandra Dürr, Vera Lúcia Gil‐da‐Silva‐Lopes, Maria Fernanda Ribeiro Bittar, Christophe Orssaud, Bénédicte Héron, Edward Ayoub, Patrick Berquin, Nadia Bahi‐Buisson, Christine Bole, Cécile Masson, Arnold Münnich, Matias Simons, Marion Delous, Hélène Dollfus, Nathalie Boddaert, Stanislas Lyonnet, Josseline Kaplan, Patrick Calvas, David I. Yule, Jean‐Michel Rozet, Lucas Fares‐Taie

    منشور في 2016
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  20. 20
    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

    MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia حسب Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Éric Bieth, Maha S. Zaki, Meral Topçu, Fatma Müjgan Sönmez, Damir Musaev, Valentina Stanley, Christine Bôle‐Feysot, Patrick Nitschké, Arnold Münnich, Nadia Bahi‐Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Bürglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

    منشور في 2020
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