Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Yannis Duffourd"'
Autor:
Aurélie Mouka, Brahim Arkoun, Pauline Moison, Loïc Drévillon, Rafika Jarray, Sophie Brisset, Anne Mayeur, Jérôme Bouligand, Anne Boland-Auge, Jean-François Deleuze, Frank Yates, Thomas Lemonnier, Patrick Callier, Yannis Duffourd, Patrick Nitschke, Emmanuelle Ollivier, Arnaud Bourdin, John De Vos, Gabriel Livera, Gérard Tachdjian, Leïla Maouche-Chrétien, Lucie Tosca
Publikováno v:
Scientific Reports
Scientific Reports, 2022, 12 (1), pp.14302. ⟨10.1038/s41598-022-17337-2⟩
Scientific Reports, 2022, 12 (1), pp.14302. ⟨10.1038/s41598-022-17337-2⟩
Despite increasing insight into the genetics of infertility, the developmental disease processes remain unclear due to the lack of adequate experimental models. The advent of induced pluripotent stem cell (iPSC) technology has provided a unique tool
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e70dedca05f845c7f3ba84f170733d
https://hal.science/hal-03759011
https://hal.science/hal-03759011
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:
Simon Verdez, Quentin Thomas, Philippine Garret, Céline Verstuyft, Emilie Tisserant, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Marc Bardou, Maxime Luu, Abderrahmane Bourredjem, Patrick Callier, Christel Thauvin-Robinet, Nicolas Picard, Laurence Faivre, Yannis Duffourd
Publikováno v:
Pharmacogenomics Journal
Pharmacogenomics Journal, 2022, Online ahead of print. ⟨10.1038/s41397-022-00280-w⟩
Pharmacogenomics Journal, 2022, Online ahead of print. ⟨10.1038/s41397-022-00280-w⟩
International audience; Beyond the identification of causal genetic variants in the diagnosis of Mendelian disorders, exome sequencing can detect numerous variants with potential relevance for clinical care. Clinical interventions can thus be conduct
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:
Lorita La Selva, Delphine Héron, Diana Rodriguez, Marilyn Tallot, Bénédicte Gérard, Charlotte Poe, David Cheillan, Anne Pervillé, Solveig Heide, Damien Haye, Christel Thauvin-Robinet, Yline Capri, Laurence Faivre, Julien Buratti, Marie-Line Jacquemont, Lionel Arnaud, Michel Renouil, Caroline Nava, Renzo Guerrini, Eric LeGuern, Boris Keren, Françoise Darcel, Amélie Piton, Cyril Mignot, Marc Bintner, Yannis Duffourd, Julien Thevenon, Laurence Perrin, Sandrine Passemard, Annalisa Vetro, Domitille Gras, J. Miquel, Charles E. Schwartz
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 24 (2), pp.492-498. ⟨10.1016/j.gim.2021.10.007⟩
Genetics in Medicine, 2021, 24 (2), pp.492-498. ⟨10.1016/j.gim.2021.10.007⟩
International audience; PURPOSE: Biallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. All Amish patients carry the homozygous p.(Arg288Ter) variant arising from a foun
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:
Florence Demurger, Christine Binquet, Muriel Holder, Frédéric Tran Mau-Them, Salima El Chehadeh, Martine Doco-Fenzy, Geneviève Baujat, Delphine Héron, Judith St-Onge, Christophe Philippe, Elodie Gautier, Robert Olaso, Rebecca A. Barnard, Paul Kuentz, François Lecoquierre, Stanislas Lyonnet, Gwenaëlle Collod-Béroud, Dominique Martin-Coignard, Isabelle Missotte, Anne Boland, Cyril Goizet, Laurence Perrin, Valérie Cormier-Daire, Sébastien Moutton, Nadine Hanna, Jean-François Deleuze, Audrey Putoux, Guillaume Jondeau, Sylvie Odent, Doris Lechner, Arnold Munnich, Thibaud Jouan, Aurélia Jacquette, Pierre-Simon Jouk, Martin Chevarin, Virginie Carmignac, Elisabetta Lapi, Alice Goldenberg, Christel Thauvin-Robinet, Sujatha Jagadeesh, P. Callier, Fatma Daoud, Yannis Duffourd, Frédéric Huet, Nathalie Marle, Charlotte Poe, Gipsy Lopez, Cyril Mignot, Florence Petit, Khadija Amarof, Brian J. O'Roak, Caroline Cabret, Fanny Morice-Picard, Jean Baptiste Rivière, Mirna Assoum, Marie Ange Delrue, Julien Thevenon, Laurence Faivre, David Geneviève, Elisabeth Sarrazin, Ange Line Bruel, Pauline Arnaud, Catherine Boileau, Christine Coubes, Didier Lacombe, Laurence Duplomb, Alice Masurel, Patrick Collignon, Antonio Vitobello, Julien Van-Gils, Bruno Leheup, Nolwenn Jean-Marçais
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, BMJ Publishing Group, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
Journal of Medical Genetics, 2020, 57 (7), pp.466-474. ⟨10.1136/jmedgenet-2019-106425⟩
PurposeMarfanoid habitus (MH) combined with intellectual disability (ID) (MHID) is a clinically and genetically heterogeneous presentation. The combination of array CGH and targeted sequencing of genes responsible for Marfan or Lujan–Fryns syndrome