Resultados da pesquisa - Hubert Journel
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1
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 Por Virginie Vauthier, Sylvie Jaillard, Hubert Journel, Christèle Dubourg, Ralf Jockers, Julie Dam
Publicado em 2012Artigo -
2
Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans Por M. Lebrun, Nicolas Richard, Geneviève Abéguilé, Anne David, Anne Dieux, Hubert Journel, Didier Lacombe, Graziella Pinto, Sylvie Odent, Juliette Salles, Alain Taı̈eb, S. Gandon-Laloum, Marie‐Laure Kottler
Publicado em 2010Artigo -
3
Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations Por 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
Publicado em 2009Artigo -
4
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... Por 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
Publicado em 2009Artigo -
5
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age Por Sandra Mercier, Annick Toutain, Aurélie Toussaint, Martine Raynaud, Claire De Barace, Pascale Marcorelles, Laurent Pasquier, Martine Blayau, Caroline Espil, P. Parent, Hubert Journel, Leïla Lazaro, Jon Andoni Urtizberea, Alexandre Moerman, Laurence Bonhomme‐Faivre, B. Eymard, Kim Maincent, Romain K. Gherardi, Denys Chaigne, Rabah Ben Yaou, France Leturcq, Jamel Chelly, Isabelle Desguerre
Publicado em 2013Artigo -
6
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases Por Pascale de Lonlay, Nathalie Seta, Sandrine Vuillaumier Barrot, B. Chabrol, Valérie Drouin, Bernard Gabriel, Hubert Journel, M. Kretz, J. Laurent, M. Le Merrer, A. Leroy, D. Pedespan, P. Sardá, Nathalie Villeneuve, J. Schmitz, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken, Christian Körner, A. Munnich, J. M. Saudubray, Valérie Cormier‐Daire
Publicado em 2001Artigo -
7
Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip Por M. Lévêque, Sandrine Marlin, Laurence Jonard, Vincent Procaccio, Pascal Reynier, Patrizia Amati‐Bonneau, Sylvain Baulande, Denis Pierron, Didier Lacombe, F Duriez, Christine Francannet, T. Mom, Hubert Journel, Hélène Catros, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Hélène Dollfus, Marie‐Madeleine Eliot, Laurence Faivre, C. Duvillard, Rémy Couderc, Éréa-Noël Garabédian, Christine Petit, Delphine Feldmann, Françoise Denoyelle
Publicado em 2007Artigo -
8
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellect... Por Jill Clayton‐Smith, Rebecca Bromley, John Dean, Hubert Journel, Sylvie Odent, Amanda Wood, Janet K. Williams, Verna Cuthbert, Latha Hackett, Neelo Aslam, Heli Malm, Greg James, Lena Westbom, Ruth Day, E J Ladusans, Adam Jackson, Iain Bruce, Robert Walker, Sangeet Sidhu, Catrina Dyer, Jane Ashworth, Daniel Hindley, Gemma Arca, Myfanwy Rawson, Peter D. Turnpenny
Publicado em 2019Artigo -
9
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy Por Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker, Willy M. Nillesen, Helger G. Yntema, Andreas Tzschach, Martine Raynaud, D. Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier Lacombe, Jean‐Michel Pédespan, Bernard Échenne, Gholamali Tariverdian, Declan O’Rourke, Mary D. King, Andrew Green, Margriet van Kogelenberg, Hilde Van Esch, Jozef Gécz, Ben C.J. Hamel, Hans van Bokhoven, Arjan P.M. de Brouwer
Publicado em 2008Artigo -
10
Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects Por Esther Kott, Marie Legendre, Bruno Copin, Jean‐François Papon, Florence Dastot‐Le Moal, Guy Montantin, Philippe Duquesnoy, William Piterboth, Daniel Amram, Laurence Bassinet, J. Beucher, Nicole Beydon, Eric Deneuville, Véronique Houdouin, Hubert Journel, J. Just, Nadia Nathan, Aline Tamalet, Nathalie Collot, Ludovic Jeanson, Morgane Le Gouez, Benoit Vallette, Anne-Marie Vojtek, Ralph Epaud, A. Coste, Annick Clément, Bruno Housset, Bruno Louis, Estelle Escudier, Serge Amselem
Publicado em 2013Artigo -
11
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations Por Sébastien Albert, Hélène Blons, Laurence Jonard, Delphine Feldmann, Pierre Chauvin, N. Loundon, Annie Sergent-Allaoui, Muriel Houang, Alain Joannard, S. Schmerber, Bruno Delobel, Jacques Leman, Hubert Journel, Hélène Catros, Hélène Dollfus, Marie-Madeleine Eliot, Albert David, C. Calais, Valérie Drouin‐Garraud, Marie-Françoise Obstoy, Patrice Tran Ba Huy, Didier Lacombe, F Duriez, Christine Francannet, Pierre Bitoun, Christine Petit, Éréa-Noël Garabédian, Rémy Couderc, Sandrine Marlin, Françoise Denoyelle
Publicado em 2006Artigo -
12
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice Por Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Torès, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bôle‐Feysot, Patrick Nitschké, J. Roume, Marie‐Pierre Cordier, Christine Piétrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzalès, Marie‐Hélène Saint‐Frison, Jéléna Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C. Verma, Ratna Dua Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Saïd-Menthon, Laurence Heidet, Sophie Saunier, Marc Jeanpierre
Publicado em 2017Artigo -
13
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome Por Christine Bellanné‐Chantelot, Barbara Schmaltz-Panneau, Caroline Marty, Odile Fenneteau, Isabelle Callebaut, Séverine Clauin, Aurélie Docet, Gandhi-Laurent Damaj, Thierry Leblanc, Isabelle Pellier, Cécile Stoven, Sylvie Souquère, Iléana Antony‐Debré, Blandine Beaupain, Nathalie Aladjidi, Vincent Barlogis, Frédéric Bauduer, Philippe Bensaïd, Odile Boespflug‐Tanguy, Claire Berger, Yves Bertrand, Liana Carausu, Claire Fieschi, Claire Galambrun, Aline Schmidt, Hubert Journel, Françoise Mazingue, Brigitte Nelken, Thuan Chong Quah, Éric Oksenhendler, Marie Ouachée, Marlène Pasquet, Véronique Saada, Felipe Suárez, Gérard Pierron, William Vainchenker, Isabelle Plo, Jean Donadieu
Publicado em 2018Artigo -
14
Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome Por Vincent Laugel, C Dalloz, M. Durand, Florence Sauvanaud, Ulrik Kristensen, M.-C. Vincent, Laurent Pasquier, S. Odent, Valérie Cormier‐Daire, Blanca Gener, Edward S. Tobias, John Tolmie, Dominique Martin–Coignard, Valérie Drouin‐Garraud, D. Héron, Hubert Journel, Emmanuel Raffo, Jacqueline Vigneron, Stanislas Lyonnet, Victoria Murday, D. Gubser-Mercati, Benoît Funalot, L A Brueton, Jaime Sánchez del Pozo, Esteban Muñoz, AR Gennery, Mustafa A. Salih, Mehrdad Noruzinia, Katrina Prescott, Lina Ramos, Zornitza Stark, Karen Fieggen, B. Chabrol, P. Sardá, Patrick Edery, Agnès Bloch‐Zupan, Heather Fawcett, D Pham, J.M. Egly, Alan R. Lehmann, Alain Sarasin, Hélène Dollfus
Publicado em 2009Revisão -
15
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability Por Rosalind Verheije, Gabriel S. Kupchik, Bertrand Isidor, Hester Y. Kroes, Sally Ann Lynch, Lara Hawkes, Maja Hempel, Bruce D. Gelb, Jamal Ghoumid, Guylaine D’Amours, Kate Chandler, Christèle Dubourg, Sara Loddo, Zeynep Tümer, Charles Shaw‐Smith, Mathilde Nizon, Michael Shevell, Evelien Van Hoof, Kwame Anyane‐Yeboa, Gaetana Cerbone, Jill Clayton‐Smith, Benjamin Cogné, Pierre Corre, Anniek Corveleyn, Marie De Borre, Tina Duelund Hjortshøj, Mélanie Fradin, Marc Gewillig, Elizabeth Goldmuntz, Greet Hens, Emmanuelle Lemyre, Hubert Journel, Usha Kini, Fanny Kortüm, Cédric Le Caignec, Antonio Novelli, Sylvie Odent, Florence Petit, Anya Revah‐Politi, Nicholas Stong, Tim M. Strom, Ellen van Binsbergen, Koenraad Devriendt, Jeroen Breckpot
Publicado em 2018Artigo -
16
A framework to identify contributing genes in patients with Phelan-McDermid syndrome Por Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard, Yline Capri, Alain Verloès, Séverine Drunat, Boris Keren, Cyril Mignot, Isabelle Marey, Aurélia Jacquette, Sandra Whalen, Eva Pipiras, Brigitte Benzacken, Sandra Chantot‐Bastaraud, Alexandra Afenjar, Delphine Héron, Cédric Le Caignec, Claire Bénéteau, Olivier Pichon, Bertrand Isidor, Albert David, Laïla El Khattabi, Stéphan Kemeny, Laëtitia Gouas, Philippe Vago, Anne‐Laure Mosca‐Boidron, Laurence Faivre, Chantal Missirian, Nicole Philip, Damien Sanlaville, Patrick Edery, Véronique Satre, Charles Coutton, Françoise Devillard, Klaus Dieterich, Marie‐Laure Vuillaume, Caroline Rooryck, Didier Lacombe, Lucile Pinson, Vincent Gâtinois, Jacques Puechberty, Jean Chiésa, James Lespinasse, Christèle Dubourg, Chloé Quēlin, Mélanie Fradin, Hubert Journel, Annick Toutain, Dominique Martin, Abdelamdjid Benmansour, Claire S. Leblond, Roberto Toro, Frédérique Amsellem, Richard Delorme, Thomas Bourgeron
Publicado em 2017Artigo -
17
Further delineation of the<i>MECP2</i>duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Por Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Mathilde Nizon, Renaud Touraine, Fabienne Prieur, Laurent Pasquier, Mathilde Lefebvre, Julien Thévenon, Christèle Dubourg, Sophie Julia, Catherine Sarret, Ganaëlle Remérand, Christine Francannet, Fanny Laffargue, Odile Boespflug‐Tanguy, Albert David, Bertrand Isidor, Jacqueline Vigneron, Bruno Leheup, Laëtitia Lambert, Christophe Philippe, Mylène Béri‐Dexheimer, Jean‐Marie Cuisset, Joris Andrieux, Ghislaine Plessis, Annick Toutain, Laurent Guibaud, Valérie Cormier‐Daire, Marlène Rio, Jean‐Paul Bonnefont, Bernard Échenne, Hubert Journel, Lydie Bürglen, Sandra Chantot‐Bastaraud, Thierry Bienvenu, Clarisse Baumann, Laurence Perrin, Séverine Drunat, Pierre‐Simon Jouk, Klaus Dieterich, Françoise Devillard, Didier Lacombe, Nicole Philip, Sabine Sigaudy, Anne Moncla, Chantal Missirian, Catherine Badens, Nathalie Perreton, Christel Thauvin‐Robinet, Réseau AChro-Puce, Jean‐Michel Pédespan, Caroline Rooryck, Cyril Goizet, Catherine Vincent‐Delorme, Bénédicte Duban‐Bedu, Nadia Bahi‐Buisson, Alexandra Afenjar, Kim Maincent, Delphine Héron, Jean‐Luc Alessandri, Dominique Martin–Coignard, Gaëtan Lesca, Massimiliano Rossi, Martine Raynaud, Patrick Callier, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Charles Coutton, Véronique Satre, Cédric Le Caignec, Valérie Malan, Serge Romana, Boris Keren, Anne‐Claude Tabet, Valérie Kremer, Sophie Scheidecker, Adeline Vigouroux, Marilyn Lackmy-Port-Lis, Damien Sanlaville, Marianne Till, Maryline Carneiro, Brigitte Gilbert‐Dussardier, Marjolaine Willems, Hilde Van Esch, Vincent des Portes, Salima El Chehadeh
Publicado em 2018Artigo -
18
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients Por Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne
Publicado em 2018Artigo -
19
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study Por Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne Maillard, Aurélie Pain, Sonia Richetin, Aia Elise Jønch, Abid Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, J. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean‐Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban
Publicado em 2018Artigo -
20
Effects of eight neuropsychiatric copy number variants on human brain structure Por Claudia Modenato, Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm, Martineau Jean‐Louis, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Élise Douard, Fanny Thébault‐Dagher, Valérie Côté, Audrey-Rose Charlebois, Florence Deguire, Anne Maillard, Borja Rodríguez‐Herreros, Aurélie Pain, Sonia Richetin, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean- Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Alexandre Raymond, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban, Yi-Shin Chang, Maxwell Cheong
Publicado em 2021Artigo
Ferramentas de pesquisa:
Assuntos relacionados
Biology
Genetics
Medicine
Gene
Internal medicine
Phenotype
Pediatrics
Genome
Mutation
Neuroscience
Psychology
Copy-number variation
Intellectual disability
Missense mutation
Psychiatry
Anatomy
Autism
Bioinformatics
Chromosome
Disease
Encephalopathy
Endocrinology
Epilepsy
Gene expression
Genotype
Hypotonia
Loss function
Mitochondrial DNA
Pathology
Physical therapy