Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Yannis Duffourd"'
Autor:
Arthur Sorlin, Antonio Vitobello, Benoit Daubail, Christel Thauvin-Robinet, Marie Hervieu-Bègue, Laurence Faivre, Agnès Fromont, Ange-Line Bruel, Frédéric Tran Mau-Them, Thibault Moreau, Julian Delanne, Guy-Victor Osseby, Quentin Thomas, Patrick Callier, Christophe Philippe, Sébastien Moutton, Maurice Giroud, Anne-Sophie Denommé-Pichon, Agnès Jacquin-Piques, Sophie Nambot, Yannis Duffourd, Philippine Garret, Y Béjot
Publikováno v:
Journal of the Neurological Sciences
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
XXV world congress of neurology (WCN 2021)
XXV world congress of neurology (WCN 2021), Oct 2021, Virtual meeting, France. pp.117855, ⟨10.1016/j.jns.2021.117855⟩
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, pp.jmedgenet-2020-107369. ⟨10.1136/jmedgenet-2020-107369⟩
ObjectiveTo assess the efficiency and relevance of clinical exome sequencing (cES) as a first-tier or second-tier test for the diagnosis of progressive neurological disorders in the daily practice of Neurology and Genetic Departments.MethodsSixty-sev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3329cef9705665a2779172bf299f6c60
https://hal.inrae.fr/hal-03463169
https://hal.inrae.fr/hal-03463169
Autor:
Lisa Weibel, Jean-Baptiste Rivière, Christophe Philippe, Virginie Carmignac, Paul Kuentz, Arthur Sorlin, Sylvie Fraitag, Laurence Faivre, C. Thauvin-Robinet, Pierre Vabres, Yannis Duffourd, Annabel Maruani, Jeanne Amiel, Olivia Boccara, Martin Theiler
Publikováno v:
Journal of the European Academy of Dermatology and Venereology
Journal of the European Academy of Dermatology and Venereology, Wiley, 2021, ⟨10.1111/jdv.17413⟩
Journal of the European Academy of Dermatology and Venereology, Wiley, 2021, ⟨10.1111/jdv.17413⟩
BRAF postzygotic activating mutations have been found in 50% of cases of syringocystadenoma papilliferum (SCAP)1 and in phacomatosis pigmentokeratotica (PPK)2,3 , also possibly caused by HRAS4 mutations. BRAF is a RAS-activating serine/threonine kina
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::202dc28708708d4a0e43e3f7a787ae52
https://hal.archives-ouvertes.fr/hal-03342804
https://hal.archives-ouvertes.fr/hal-03342804
Autor:
P. Callier, Bruno Vergès, E. Crevisy, S. Baillot-Rudoni, Benjamin Bouillet, Jean-Michel Petit, D. Gallegarine, Yannis Duffourd, Thibaud Jouan
Publikováno v:
Diabetes & Metabolism
Diabetes & Metabolism, Elsevier Masson, 2020, 46, pp.400-402. ⟨10.1016/j.diabet.2020.03.001⟩
Diabetes and Metabolism
Diabetes and Metabolism, Elsevier Masson, 2020, 46, pp.400-402. ⟨10.1016/j.diabet.2020.03.001⟩
Diabetes & Metabolism, Elsevier Masson, 2020, 46, pp.400-402. ⟨10.1016/j.diabet.2020.03.001⟩
Diabetes and Metabolism
Diabetes and Metabolism, Elsevier Masson, 2020, 46, pp.400-402. ⟨10.1016/j.diabet.2020.03.001⟩
Aim The aim of the present study was to identify the affected gene in a French family with maturity-onset diabetes of the young (MODY) using whole-exome sequencing (WES). Methods WES was performed in one patient with MODY, and candidate variants were
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f911662c56672ed7c2695c1ea89f34
https://hal.archives-ouvertes.fr/hal-03493681/document
https://hal.archives-ouvertes.fr/hal-03493681/document
Autor:
Tania Attié-Bitach, Philippe Jonveaux, Alice Goldenberg, Antonio Vitobello, Nicole Laurent, Marjolaine Willems, Valérie Kremer, Dominique Gaillard, Chloé Quélin, Sebastien Moutton, Marion Aubert-Lenoir, Yannis Duffourd, Anne-Sophie Lebre, Anne-Claire Brehin, James Lespinasse, Yline Capri, Nolwenn Jean-Marçais, Maria Cristina Antal, Frédéric Tran Mau-Them, Nathalie Marle, Daphné Lehalle, Nicolas Bourgon, Sophie Blesson, Bernard Foliguet, Laetita Lambert, Nicole Bigi, Mélanie Fradin, Emilie Tisserant, Christel Thauvin-Robinet, Ange-Line Bruel, Elisabeth Alanio, Marie-Hélène Saint-Frison, Christine Francannet, Anne-Marie Guerrot, Paul Kuentz, Elise Schaefer, Anne-Marie Beaufrere, Sylvie Odent, Francine Arbez-Gindre, Laurence Faivre, Christophe Philippe, Julien Thevenon, Sophie Patrier-Sallebert, Nada Houcinat, Celine Poirisier, Sophie Nambot, Mathilde Lefebvre, Mirna Assoum, Françoise Girard-Lemaitre, Sophie Collardeau-Frachon, Marie-José Perez, Jean-Louis Mandel, Jean-Pierre Mazutti, Renaud Touraine, Philippe Loget, Salima El Chehadeh
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-106867. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-106867. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
PurposeMolecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than in live birth indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27731c0dabc70d1e161c600bcdf091e3
https://www.hal.inserm.fr/inserm-03231676
https://www.hal.inserm.fr/inserm-03231676
Autor:
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen J. Low, Cristina Dias, Markéta Havlovicová, Miroslava Hančárová, Evan E. Eichler, Françoise Devillard, Sébastien Moutton, Julien Van-Gils, Christèle Dubourg, Sylvie Odent, Bénédicte Gerard, Amélie Piton, Toshiyuki Yamamoto, Nobuhiko Okamoto, Helen Firth, Kay Metcalfe, Anna Moh, Kimberly A. Chapman, Erfan Aref-Eshghi, Jennifer Kerkhof, Annalaura Torella, Vincenzo Nigro, Laurence Perrin, Juliette Piard, Gwenaël Le Guyader, Thibaud Jouan, Christel Thauvin-Robinet, Yannis Duffourd, Jaya K. George-Abraham, Catherine A. Buchanan, Denise Williams, Usha Kini, Kate Wilson, Nicola Brunetti-Pierri, Giorgio Casari, Michele Pinelli, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Sérgio B. Sousa, Raoul C.M. Hennekam, Bekim Sadikovic, Julien Thevenon, Jérôme Govin, Antonio Vitobello
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in Medicine, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in medicine, 22(11), 1838-1850. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in Medicine, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in medicine, 22(11), 1838-1850. Lippincott Williams and Wilkins
International audience; Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital an
Autor:
Anne-Sophie Denommé-Pichon, Laetitia Gouas, Martin Chevarin, Marlène Rio, Elodie Gautier, Sonia Bouquillon, Nolwenn Jean-Marçais, Jennifer Fabre-Teste, Dominique Martin, Elise Schaefer, Fabienne Giuliano, Didier Lacombe, Sophie Nambot, Gaëlle Vieville, Sophie Blesson, Paul Kuentz, Christine Francannet, Yannis Duffourd, Aurélien Juven, Alice Masurel, Patrick Callier, Arnold Munnich, Salima El Chehadeh, Sophie Rondeau, Christophe Philippe, Amélie Piton, Fanny Laffargue, Catherine Vincent Delorme, Marie Vincent, Olivier Pichon, Bénédicte Gérard, Anne-Laure Mosca-Boidron, Bertrand Isidor, Christel Thauvin-Robinet, Laurence Perrin-Sabourin, Nathalie Marle, Cédric Le Caignec, Laurence Faivre, Hubert Journel, Klaus Dieterich
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0582-3⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0582-3⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
International audience; Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49416efdfdb6fb70d9dd48a27fb46e14
https://hal.archives-ouvertes.fr/hal-02883449
https://hal.archives-ouvertes.fr/hal-02883449
Autor:
Yannis Duffourd, Chantal Missirian, Dominique P. Germain, Jacques Puechberty, Damien Sanlaville, Christine Coubes, Tiffany Busa, Laurent Villard, Jérémie Mortreux, Hélène Tevissen, Nicole Philip, Pierre Cacciagli, Vincent Gatinois, JM Pinard, Gwenaël Nadeau
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩
European Journal of Human Genetics, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (1), pp.143-148. ⟨10.1038/s41431-017-0018-x⟩
IF 3.636 (2017); International audience; IntroductionA large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccc4050887dd2c05681d859a76ad8896
https://hal-amu.archives-ouvertes.fr/hal-01668647/document
https://hal-amu.archives-ouvertes.fr/hal-01668647/document
Autor:
Nadège Gigot, Anne Dieux, Yannis Duffourd, Bernard Aral, Lydie Burglen, Bérénice Doray, Olivier Rosnet, Alice Goldenberg, Martijn A. Huynen, Oliver E. Blacque, Brunella Franco, André Mégarbané, Diane Doummar, Ernie M.H.F. Bongers, Anne Fargeot-Espaliat, Clarisse Baumann, Judith St-Onge, Daniel Birnbaum, Sophie Saunier, Thibaut Eguether, Jean-François Deleuze, Estelle Lopez, Dominique Gaillard, Geneviève Pierquin, Shubha R. Phadke, Michel R. Leroux, Rachel H. Giles, Tania Attié-Bitach, Jaclyn S. Goldstein, Isabelle Desguerres, Elisabeth Steichen-Gersdorf, Brigitte Gilbert-Dussardier, Manuela Morleo, Jesús Argente, Jean Baptiste Rivière, Gregory J. Pazour, Christel Thauvin-Robinet, Julien Thevenon, Albert David, Maxence V. Nachury, Laurence Faivre, Philippe Loget, Véronique Chevrier, Bruno Reversade, Laurence Jego, Ange Line Bruel, Vicente Herranz-Pérez, Laurent Pasquier, Colin A. Johnson, John B. Wallingford, Valérie Cormier-Daire, Inusha Panigrahi
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Bruel, A-L; Franco, B; Duffourd, Y; Thevenon, J; Jego, L; Lopez, E; et al.(2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. JOURNAL OF MEDICAL GENETICS, 54(6), 371-380. doi: 10.1136/jmedgenet-2016-104436. UCSF: Retrieved from: http://www.escholarship.org/uc/item/6vw2q34w
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. 〈10.1136/jmedgenet-2016-104436〉
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Journal of Medical Genetics, 54, 6, pp. 371-380
Journal of Medical Genetics, 54, 371-380
Journal of Medical Genetics, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Bruel, A-L; Franco, B; Duffourd, Y; Thevenon, J; Jego, L; Lopez, E; et al.(2017). Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. JOURNAL OF MEDICAL GENETICS, 54(6), 371-380. doi: 10.1136/jmedgenet-2016-104436. UCSF: Retrieved from: http://www.escholarship.org/uc/item/6vw2q34w
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. 〈10.1136/jmedgenet-2016-104436〉
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (6), pp.371-380. ⟨10.1136/jmedgenet-2016-104436⟩
Journal of Medical Genetics, 54, 6, pp. 371-380
Journal of Medical Genetics, 54, 371-380
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities associated with a wide range of additional features (polycystic kidney disease, cerebral malformations and several others)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3936f44f5b3a91a3dfb197d651c272
https://doi.org/10.1136/jmedgenet-2016-104436
https://doi.org/10.1136/jmedgenet-2016-104436
Autor:
Seana O'Regan, Tiziana Mongini, Céline Buon, Anne Marie Beaufrere, Yoshiteru Azuma, Bertrand Fontaine, Hanns Lochmüller, S. Bauche, Ana Töpf, Chiara Fiorillo, Jean-François Deleuze, E. Lacène, Julien Thevenon, Gisèle Bonne, Damien Sternberg, C. Burloiu, Yannis Duffourd, Isabelle Desguerre, Isabelle Nelson, Guy Brochier, Anne Boland, Benoit Bœuf, Michèle Mayer, Laure Strochlic, Jocelyn Laporte, Laurence Faivre, Sophie Nicole, Ganaelle Remerand, Céline Pebrel-Richard, Laurent Servais, Federica Ricci, Guja Astrea, Doris Lechner, Salima El Chehadeh-Djebbar, Nassima Bouzidi, Fanny Laffargue, Bruno Eymard, Marie Christine Nougues, Norma B. Romero, Grace McMacken, Carmen Sandu, Niculina Butoianu
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
American Journal of Human Genetics, 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 99 (3), pp.753-761. ⟨10.1016/j.ajhg.2016.06.033⟩
International audience; The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMS5), a clinically and genetically heterogeneous g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b7aaebb223eac493cf088535a38db5c
https://hal.science/hal-03993840
https://hal.science/hal-03993840
Autor:
Arnaud Petit, Clarisse Thiollier, Paola Rivera-Munoz, Françoise Pflumio, Daniel Gautheret, Justine Guegan, William Vainchenker, Paola Ballerini, Judith Landman-Parker, Philippe Dessen, Yannis Duffourd, Cécile K. Lopez, Isabelle Radford, M'Boyba Diop, John D. Crispino, Olivier Bluteau, Yann Lécluse, Thomas Mercher, Beat Bornhauser, Stéphane de Botton, Jean-Pierre Bourquin, Cathy Ignacimouttou, Olivier Bernard, Dirk Reinhardt, Sandrine Poglio, Vinciane Mabialah, Nicole Dastugue, Anne Laure Bauchet, Bastien Gerby, Qiang Wen
Publikováno v:
Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2012, 209 (11), pp.2017-2031. ⟨10.1084/jem.20121343⟩
Journal of Experimental Medicine, 2012, 209 (11), pp.2017-2031. ⟨10.1084/jem.20121343⟩
The Journal of Experimental Medicine
The Journal of experimental medicine
Journal of Experimental Medicine, Rockefeller University Press, 2012, 209 (11), pp.2017-2031. ⟨10.1084/jem.20121343⟩
Journal of Experimental Medicine, 2012, 209 (11), pp.2017-2031. ⟨10.1084/jem.20121343⟩
The Journal of Experimental Medicine
The Journal of experimental medicine
A CBFA2T3-GLIS2 fusion gene was identified in 31% of non–Down syndrome AMKL.
Acute megakaryoblastic leukemia (AMKL) is a heterogeneous disease generally associated with poor prognosis. Gene expression profiles indicate the existence of distinc
Acute megakaryoblastic leukemia (AMKL) is a heterogeneous disease generally associated with poor prognosis. Gene expression profiles indicate the existence of distinc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7176602112e4e0fecd4a4383f325d491
https://hal.archives-ouvertes.fr/hal-02353632/document
https://hal.archives-ouvertes.fr/hal-02353632/document