Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Véronique Darmency"'
Autor:
Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)
Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort of 547 patients with unspe
Externí odkaz:
https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582e
Autor:
Benoit Mazel, Delphine Mallet, Florence Roucher‐Boulez, Candace Ben Signor, Marie Bournez, Véronique Darmency, Valentin Bourgeois, Charlotte Poe, Fares El Khabbaz, Antonio Vitobello, Christophe Philippe, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre, Sophie Nambot
Publikováno v:
American Journal of Medical Genetics Part A. 188:3540-3545
Autor:
Yannis Duffourd, Catherine Sarret, B. Catteau, Rachel G. Knox, Chloé Quélin, Cyril Mignot, Martin Chevarin, P. Callier, Diana Rodriguez, Alexis Arzimanoglou, Robert Olaso, David Geneviève, Arthur Sorlin, Sylvie Odent, Christel Thauvin, Victoria E. R. Parker, Pierre Vabres, Louise Goujon, Malika Keddar, Melissa Riachi, Sylvie Fraitag, Laurence Faivre, Emmanuelle Blanchard, Satyamaanasa Polubothu, Marie-Line Jacquemont, Jean-Baptiste Rivière, Anne Boland, Jean-François Deleuze, Paul Rollier, Véronique Darmency, Marie-Hélène Aubriot-Lorton, Yline Capri, V. Carmignac, Daniel Amram, Catherine Vincent-Delorme, Paul Kuentz, Marc Delepine, Didier Bessis, Robert K. Semple, Sarah Grotto, Veronica A. Kinsler, Laurent Guibaud, Christophe Philippe, Jean-Benoît Courcet
Publikováno v:
Carmignac, V, Mignot, C, Blanchard, E, Kuentz, P, Aubriot-Lorton, M-H, Parker, V E R, Sorlin, A, Fraitag, S, Courcet, J-B, Duffourd, Y, Rodriguez, D, Knox, R G, Polubothu, S, Boland, A, Olaso, R, Delepine, M, Darmency, V, Riachi, M, Quelin, C, Rollier, P, Goujon, L, Grotto, S, Capri, Y, Jacquemont, M-L, Odent, S, Amram, D, Chevarin, M, Vincent-Delorme, C, Catteau, B, Guibaud, L, Arzimanoglou, A, Keddar, M, Sarret, C, Callier, P, Bessis, D, Geneviève, D, Deleuze, J-F, Thauvin, C, Semple, R K, Philippe, C, Rivière, J-B, Kinsler, V A, Faivre, L & Vabres, P 2021, ' Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01161-6
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e9636f25224977f95394e626ab0731
https://www.repository.cam.ac.uk/handle/1810/326616
https://www.repository.cam.ac.uk/handle/1810/326616
Autor:
Nawale Hadouiri, Marie-Gabrielle Mourot De Rougemont, Olivier Blanchard, Yannis Duffourd, Christel Thauvin-Robinet, Stéphanie Perez-Martin, François Lecoquierre, Antonio Vitobello, Arthur Sorlin, Benoit Colomb, Christophe Philippe, Véronique Darmency, Paul Ornetti, Quentin Thomas, Ange-Line Bruel, Laurence Faivre, Véronique Dulieu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7695c7fbbb06ac4f2bdd60ff6263fb2b
https://doi.org/10.1111/cge.14045/v2/response1
https://doi.org/10.1111/cge.14045/v2/response1
Autor:
Antonio Vitobello, Marie-Gabrielle Mourot De Rougemont, Stéphanie Perez-Martin, Véronique Darmency, Laurence Faivre, Ange-Line Bruel, Yannis Duffourd, François Lecoquierre, Paul Ornetti, Véronique Dulieu, Benoit Colomb, Arthur Sorlin, Nawale Hadouiri, Olivier Blanchard, Quentin Thomas, Christophe Philippe, Christel Thauvin-Robinet
Publikováno v:
Clinical Genetics. 100:643-644
Autor:
Christel Thauvin-Robinet, Véronique Darmency, Jean-Baptiste Rivière, Arthur Sorlin, Pierre Vabres, Marc Bardou, Frédéric Huet, Nawale Hadouiri, Alexis Arzimanoglou, Laurent Guibaud, Maxime Luu, Laurence Faivre, Virginie Carmignac
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104036-. ⟨10.1016/j.ejmg.2020.104036⟩
European Journal of Medical Genetics, Elsevier, 2020, 63, pp.104036-. ⟨10.1016/j.ejmg.2020.104036⟩
The MTOR gene encodes the mechanistic target of rapamycin (mTOR), which is a core component of the PI3K-AKT-mTOR signaling pathway. Postzygotic MTOR variants result in various mosaic phenotypes, referred to in OMIM as Smith-Kinsgmore syndrome or foca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4db522a15f95c413f148bb45a12ba2a
https://hal.science/hal-03491487
https://hal.science/hal-03491487
Autor:
Catherine Sarret, Satyamaanasa Polubothu, V. Carmignac, Daniel Amram, Anne Boland, Chloé Quélin, Véronique Darmency, Christophe Philippe, Emmanuelle Blanchard, Martin Chevarin, P. Callier, Veronica A. Kinsler, Yannis Duffourd, Robert Olaso, Jean-Baptiste Rivière, Marie-Hélène Aubriot-Lorton, Sylvie Fraitag, Christel Thauvin, Malika Keddar, B. Catteau, Alexis Arzimanoglou, Cyril Mignot, Rachel G. Knox, Didier Bessis, Sarah Grotto, Robert K. Semple, Marie-Line Jacquemont, Arthur Sorlin, Sylvie Odent, David Geneviève, Laurent Guibaud, Melissa Riachi, Yline Capri, Pierre Vabres, Victoria E. R. Parker, Louise Goujon, Jean-Benoît Courcet, Laurence Faivre, Jean-François Deleuze, Paul Rollier, Marc Delepine, Catherine Vincent-Delorme, Paul Kuentz, Diana Rodriguez
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
Genetics in Medicine, 2021, 23 (8), pp.1585. ⟨10.1038/s41436-021-01217-7⟩
International audience
Autor:
Judith St-Onge, Julien Thevenon, S. El Chehadeh-Djebbar, Mathilde Lefebvre, F. Huet, Patrick Callier, A. Steinmetz, Mondher Chouchane, Jean-Baptiste Rivière, François Feillet, Alice Masurel-Paulet, Véronique Darmency-Stamboul, Christel Thauvin-Robinet, Yannis Duffourd, Laurence Faivre
Publikováno v:
Clinical Genetics. 89:700-707
The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic encephalopathy (EE) results in a diagnostic yield of ∼50%. Affected individuals nonetheless undergo multiple clinical evaluations and low-yield laborato
Autor:
Véronique Darmency, Sharon Whiting, Laurence Faivre, Jean-François Deleuze, Daniel H. Lowenstein, Julien Thevenon, Rebecca Hernan, Matthew A. Lines, Orly Elpeleg, Yannis Duffourd, Corinne Antignac, Mirna Assoum, Erin L. Heinzen, Martine Lemesle, Christel Thauvin-Robinet, Aurélie Bertholet-Thomas, Wendy K. Chung, Orrin Devinsky, Eric B. Geller, Vincent des Portes, Alexandre Belot, Simon Edvardson
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
American Journal of Medical Genetics Part A, 2018, 176 (11), pp.2470-2478. ⟨10.1002/ajmg.a.40357⟩
IF 2.264; International audience; De novo mutations of the TRIM8 gene, which codes for a tripartite motif protein, have been identified using whole exome sequencing (WES) in two patients with epileptic encephalopathy (EE), but these reports were not
Autor:
Yannick, Béjot, Benoit, Delpont, Christelle, Blanc, Véronique, Darmency, Frédéric, Huet, Maurice, Giroud
Publikováno v:
Soins. Pediatrie, puericulture. 38(295)
Incidence of perinatal arterial stroke (ischemic stroke, intracerebral hemorrhage and subarachnoid hemorrhage) occurring between 20 weeks of gestation and postnatal day 28 ranges between 20 and 65 cases per 100,000 living births. In children aged 29