Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Julien Thevenon"'
Autor:
J. Küsel, Julien Thevenon, Emmanuelle Bourrat, Steffen Hörer, Rudolf Happle, Lisa Heinz, Pierre Vabres, Svenja Alter, Alrun Hotz, Andreas Zimmer, Judith Fischer
Publikováno v:
British Journal of Dermatology
British Journal of Dermatology, Wiley, 2019, 180 (3), pp.657-661. ⟨10.1111/bjd.17024⟩
British Journal of Dermatology, Wiley, 2019, 180 (3), pp.657-661. ⟨10.1111/bjd.17024⟩
International audience; Focal dermal hypoplasia (FDH, Goltz syndrome, MIM: #305600) constitutes a rare multisystem genetic disorder of the skin, skeleton, teeth and eyes with considerable variation in the clinical features. FDH is transmitted as an X
Autor:
Giulia Barcia, Laurence Hubert, Emily Fassi, Julien Thevenon, Laurence Faivre, Philippe Lory, Daniel Medina-Cano, Pierre Blanc, Nathalie Boddaert, Nami Altin, Karine Siquier-Pernet, Marlène Rio, Céline Vidal, Jean Chemin, Sylvain Hanein, Holly H. Zimmerman, Marwan Shinawi, Patrick Nitschke, Vincent Cantagrel, Cécile Fourage, Nadia Bahi-Buisson, Christine Bole-Feysot, Jeanne Amiel, Ali Ahmad, Arnold Munnich, Michael Nicouleau, Stanislas Lyonnet, Laurence Colleaux, Isabelle Desguerre
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Brain-A Journal of Neurology, 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (7), pp.1998-2013. ⟨10.1093/brain/awy145⟩
IF 10.848; International audience; Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike the adult forms, early onset cerebellar atrophies are classically
Autor:
Julien Thevenon, Christiane Zweier, Hilde Olivié, Nicole Revencu, Aurélia Jacquette, Megan T. Cho, Anne-Laure Mosca-Boidron, Marjolein H. Willemsen, Laurence Faivre, Yannis Duffourd, Odile Boute-Benejean, Elaine H. Zackai, Carey McDougall, Amber Begtrup, Anita Rauch, Christel Thauvin-Robinet, Perrine Charles, Koen L.I. van Gassen, Thomas Smol, Laurence Duplomb-Jego, Daphné Lehalle, Amanda Clarkson, Orrin Devinsky, Catherine Vincent-Delorme, Paul Kuentz, Bénédicte Gérard, Patrick Callier, Karol Rubin, Jean-Baptiste Rivière, Sébastien Moutton, Deborah J. Shears, Ana Lisa Taylor Tavares, Ingrid Simonic, Paulien A. Terhal, Soo-Mi Park, Alice Masurel-Paulet, Golder N. Wilson
Publikováno v:
Journal of Medical Genetics, 54(7), 479. BMJ Publishing Group
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Journal of Medical Genetics, 54, 479-488
Journal of Medical Genetics, 54, 7, pp. 479-488
Item does not contain fulltext BACKGROUND: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this p
Autor:
Shoji Ichikawa, Ilaria Rivolta, Anna Binda, Laurie S. Sadler, Sonia Figueiroa, Renzo Guerrini, Annick Laridon, Pasquale Striano, Katalin Sterbova, Bina Santoro, Petra Laššuthová, Maria Margherita Mancardi, Francesca Ragona, Anna Rosati, Fernando Kok, Laura Canafoglia, Daniele Frattini, Elena Freri, Christine Coubes, Davide Mei, Bobby P. C. Koeleman, Daniel Bauer, Carla Marini, Christel Depienne, Carlotta Spagnoli, Sophie Scheidecker, Carlo Fusco, Tiziana Granata, Barbara Castellotti, Eva H. Brilstra, Federico Melani, Cristina Garrido, Cinzia Gellera, A. Micheil Innes, Wilfrid Carré, Christèle Dubourg, Elena Parrini, Alessandro Porro, Caroline Nava, Maria Giardino, Sophie Julia, Manuela Santos, Yves Alembik, Eric LeGuern, Andrea Barbuti, Silvana Franceschetti, Federico Zara, Paul Kuentz, Raffaella Milanesi, Catherine Mercer, Carine Dalle, Julien Thevenon, Nicolas Deconinck, Agnès Rastetter, Laurent Pasquier, Kay Hamacher, Renske Oegema, Gerhard Thiel, Dario DiFrancesco, Tiziana Pisano, Chelsea Chambers, Jacopo C. DiFrancesco, Guillaume Smits, Katherine L. Helbig, Julie Soblet, Jana Neupauerová, Damien R Clark, Johannes R. Lemke, Radhika Dhamija, Anna Moroni
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
International audience; Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants alte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a81d4853ace04d224a5bc24dae47347
https://hal.sorbonne-universite.fr/hal-01977974/document
https://hal.sorbonne-universite.fr/hal-01977974/document
Autor:
Axel Bohring, Jean-Baptiste Rivière, Joanna Kennedy, Giampaolo Garani, Margo Whiteford, Stefania Bigoni, Bregje W.M. van Bon, Elisa Ballardini, Laurence Faivre, Emmanuelle Ginglinger, Han G. Brunner, Matt Wherlock, Alexander Hoischen, Ruth Newbury-Ecob, Vincent Meyer, Robert Olaso, Geoff Woodward, Rocio Acuna-Hidalgo, Ange-Line Bruel, Judith St-Onge, Maggie Williams, Julien Thevenon, Christel Thauvin-Robinet, Giulia Parmeggiani, Jean-François Deleuze, Ddd Study, Chris C. Buxton, Alessandra Ferlini, Mark Greenslade, Anne Boland
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩
Journal of Medical Genetics, 54(12), 830-835. BMJ Publishing Group
Journal of Medical Genetics, 54, 12, pp. 830-835
Journal of Medical Genetics, 54, 830-835
Background Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations of ASXL1. However, several typical patients with BOS have no m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9616db17c74253ed460103a96e1c8340
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
Autor:
Patrick Callier, Angélique Quartier, Matthieu Jung, Brigitte Gilbert-Dussardier, Vincent des Portes, Claire Feger, Bernard Jost, Bénédicte Gérard, Stéphanie Le Gras, Daphné Lehalle, Elsa Nourisson, Anne-Sophie Casteleyn, Claire Redin, Julien Thevenon, Anne-Laure Mosca-Boidron, Laurence Faivre, Hélène Poquet, Frédéric Huet, Paul Kuentz, Christel Thauvin-Robinet, Véronique Geoffroy, Jean-Louis Mandel, Massimiliano Rossi, Gaetan Lesca, Alice Masurel, Patrick Edery, Benoit Trojak, Salima El Chehadeh, Stéphanie Maury, Jean Muller, Amélie Piton
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. ⟨10.1038/ejhg.2016.204⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. 〈http://www.nature.com〉. 〈10.1038/ejhg.2016.204〉
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. ⟨10.1038/ejhg.2016.204⟩
European Journal of Human Genetics, Nature Publishing Group, 2017, 25 (4), pp.423-431. 〈http://www.nature.com〉. 〈10.1038/ejhg.2016.204〉
International audience; Fragile-X syndrome (FXS) is a frequent genetic form of intellectual disability (ID). The main recurrent mutagenic mechanism causing FXS is the expansion of a CGG repeat sequence in the 5'-UTR of the FMR1 gene, therefore, routi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8096765ee7003b1568cbf3022e0ec345
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560313
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01560313
Autor:
Aurélia Jacquette, Alice Goldenberg, Thierry Frebourg, Julien Thevenon, David Geneviève, Anne-Marie Guerrot, Andrée Delahaye-Duriez, Yline Capri, Bruno Leheup, François Lecoquierre, Florence Riccardi, Tiffany Busa, Laurent Villard, Pierre Cacciagli, Vincent Gatinois, Julien Mancini, Chantal Missirian, Lionel Van Maldergem, Massimiliano Rossi, Laurence Perrin, Catherine Vincent-Delorme, Pascale Saugier-Veber, Philippe Khau Van Kien, Gwenaël Nadeau, Annick Toutain, Alain Verloes, Sandrine Marlin, Rolph Pfundt, Elise Schaefer, Arthur Sorlin, Vincent Michaud, Christel Thauvin-Robinet, Philippe Parent, Cyril Mignot, Charles Coutton, Nicole Philip, Véronique Satre, Aude Tessier
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. 〈10.1002/ajmg.a.37878〉
American Journal of Medical Genetics. Part A, 170, 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics. Part A, 170, 11, pp. 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. 〈10.1002/ajmg.a.37878〉
American Journal of Medical Genetics. Part A, 170, 2847-2859
American Journal of Medical Genetics Part A, Wiley, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics Part A, 2016, 170 (11), pp.2847-2859. ⟨10.1002/ajmg.a.37878⟩
American Journal of Medical Genetics. Part A, 170, 11, pp. 2847-2859
Item does not contain fulltext KBG syndrome, due to ANKRD11 alteration is characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. We report a clinical and molecular study of 39 patients affected by KBG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9893a4cf738da58e20ba8d0b0c43ef2
https://hal.archives-ouvertes.fr/hal-01469066
https://hal.archives-ouvertes.fr/hal-01469066
Autor:
Judith St-Onge, Yannis Duffourd, Sandra Whalen, Marjolaine Willems, Anne-Claire Bursztejn, Massimiliano Rossi, Bertrand Isidor, Patrick Edery, Odile Boute, Virginie Carmignac, J. Miquel, Sébastien Barbarot, Daniel Amram, Fanny Morice-Picard, A. Phan, Pierre Vabres, Didier Lacombe, Maryse Bonnière, Jean-Baptiste Rivière, Nadia Bahi-Buisson, Catherine Vincent-Delorme, Thibaud Jouan, Paul Kuentz, Caroline Michot, Renaud Touraine, Jean-Benoît Courcet, Christine Francannet, Marie Vincent, Smail Hadj-Rabia, Valérie Cormier-Daire, Christine Coubes, Cyril Mignot, Nathalie Marle, Jeanne Amiel, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Juliette Mazereeuw-Hautier, Annabel Maruani, Salima El Chehadeh, Geneviève Baujat, Christine Chiaverini, Daphné Lehalle, Arthur Sorlin, Florence Petit, Bruno Delobel, Laurence Faivre, Julien Thevenon, Stéphanie Arpin, Didier Bessis, Damien Haye, David Geneviève, Tania Attié-Bitach, Claire Abasq-Thomas, Jelena Martinovic, Alain Verloes, Christel Thauvin-Robinet, Juliette Albuisson, Marie-Line Jacquemont, Alice Goldenberg, Olivia Boccara, Ludovic Martin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 19(9)
Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS. We performed u
Autor:
Julien Thevenon, Judith St-Onge, Bernard Aral, Patrick Callier, Salima El Chehadeh, Pierre Sarda, Christian P. Hamel, Virginie Carmignac, Frédéric Huet, Nathalie Droin, Lucie Gueneau, Laurence Duplomb, Christel Thauvin-Robinet, Laurence Faivre, Nadège Gigot
Publikováno v:
American Journal of Medical Genetics Part A. 164:522-527
Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive choriore
Autor:
Teunis J. P. van Dam, Angélique Bole, Emilie Baudelet, Christel Thauvin-Robinet, Jean-Baptiste Rivière, Jean-Paul Borg, Olivier Rosnet, Ange-Line Bruel, Melissa Lo Scalzo, Daniel Isnardon, Brunella Franco, Paul Kuentz, Martijn A. Huynen, Daniel Birnbaum, Laurence Faivre, Véronique Chevrier, Stéphane Audebert, Frédérique Lembo, Lydie Burglen, Julien Thevenon
Publikováno v:
Human Molecular Genetics, 25, 3, pp. 497-513
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (3), pp.497-513. 〈https://academic.oup.com/hmg/article-abstract/25/3/497/2384544/OFIP-KIAA0753-forms-a-complex-with-OFD1-and-FOR20?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddv488〉
Human Molecular Genetics, 2016, 25 (3), pp.497-513. ⟨10.1093/hmg/ddv488⟩
Human Molecular Genetics, 25, 497-513
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (3), pp.497-513. ⟨10.1093/hmg/ddv488⟩
Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (3), pp.497-513. 〈https://academic.oup.com/hmg/article-abstract/25/3/497/2384544/OFIP-KIAA0753-forms-a-complex-with-OFD1-and-FOR20?redirectedFrom=fulltext〉. 〈10.1093/hmg/ddv488〉
Human Molecular Genetics, 2016, 25 (3), pp.497-513. ⟨10.1093/hmg/ddv488⟩
Human Molecular Genetics, 25, 497-513
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (3), pp.497-513. ⟨10.1093/hmg/ddv488⟩
Item does not contain fulltext Oral-facial-digital (OFD) syndromes are rare heterogeneous disorders characterized by the association of abnormalities of the face, the oral cavity and the extremities, some due to mutations in proteins of the transitio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d8fe05b642013b6d8c800cfc966880e
https://doi.org/10.1093/hmg/ddv488
https://doi.org/10.1093/hmg/ddv488