Zobrazeno 1 - 10
of 55
pro vyhledávání: '"Elisabeth, Flori"'
Autor:
Mylène Valduga, Catherine Yardin, François Vialard, Marie-Agnès Collonge-Rame, Nathalie Leporrier, Marianne Till, Camille Lebel-Roy, Nicolas Gruchy, Nathalie Le Meur, Frédérique Carré-Pigeon, Sylvie Jaillard, Eleonore Blondeel, Radu Harbuz, Pascal Chambon, A. Vigouroux-Castera, Géraldine Joly-Helas, Elisabeth Flori, Martine Herbaux, James Lespinasse, Mélanie Jimenez Pocquet, Francine Mugneret, Florence Amblard, Philippe Vago, Aurélie Coussement
Publikováno v:
Prenatal Diagnosis. 36:523-529
OBJECTIVE: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47,XXX and 47,XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of th
Autor:
Anne Boland, Alain Verloes, Jean-François Deleuze, Amélie Piton, Robert Olaso, Jean-Louis Mandel, Laura Mary, Laurence Faivre, Christine Coubes, Bénédicte Gérard, Elise Schaefer, David Geneviève, Claire Feger, Irina Giurgea, Estelle Colin, Francesca Mattioli, Salima El Chehadeh, Dana Timbolschi, Yline Capri, Jennifer Fabre-Teste, Elsa Nourisson, Elisabeth Flori, Magalie Barth, Laurence Perrin, Claire Redin
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2018, 26 (7), pp.996-1006. ⟨10.1038/s41431-018-0096-4⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (7), pp.996-1006. ⟨10.1038/s41431-018-0096-4⟩
European Journal of Human Genetics, 2018, 26 (7), pp.996-1006. ⟨10.1038/s41431-018-0096-4⟩
European Journal of Human Genetics, Nature Publishing Group, 2018, 26 (7), pp.996-1006. ⟨10.1038/s41431-018-0096-4⟩
IF 3.636 (2017); International audience; High-throughput sequencing (HTS) of human genome coding regions allows the simultaneous screen of a large number of genes, significantly improving the diagnosis of non-syndromic intellectual disabilities (ID).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::404abf8f3b25bf69d539b1ef996b0ebf
https://hal.umontpellier.fr/hal-01870355
https://hal.umontpellier.fr/hal-01870355
Autor:
François Vialard, Eva Pipiras, Pascale Kleinfinger, Dominique Martin-Coignard, Marie Catty, Elisabeth Flori, Emilie Landais, Mylène Valduga, Marie-France Portnoï, Aline Receveur, Agnès Choiset, Ghislaine Plessis, Nathalie Le Meur, Audrey Basinko, Justine Besseau-Ayasse, James Lespinasse, Radu Harbuz, Céline Poirsier, Martine Doco-Fenzy, Pascaline Letard, Caroline Schluth-Bolard, Anne Bazin, Jérôme Toutain, Fabienne Prieur, Florence Amblard, Cédric Le Caignec, Tiffany Busa, Marie Christine de Blois, Melanie Jimenez, Patrick Callier, Chantal Missirian, Céline Pebrel-Richard, Paul Kuentz, Catherine Yardin, François Cartault, Hakima Lallaoui
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multice
Autor:
Véronique Lindner, Luc Marcellin, B. Viville, Dana Timbolschi, Hélène Dollfus, Béatrice Dott, Romain Favre, Françoise Girard-Lemaire, Elisabeth Flori, Bernard Gasser, Dominique Astruc, Pierre Kehrli, Bérénice Doray, M. Kohler, Israël Nisand, Delphine Fattori, Elise Schaefer, Bondo Monga
Publikováno v:
Fetal Diagnosis and Therapy. 37:6-17
Context and Objective: Considering the lack of accurate and up-to-date information available about neural tube defects (NTDs) in France, the purpose of this study was to review clinical and epidemiological data of NTDs and to evaluate the current eff
Autor:
William D. Fraser, Elisabeth Flori, Guy A. Rouleau, Valérie Kremer, Natalie Patey, David A. Dyment, Sarah Boissel, François Audibert, Françoise Rypens, Aspasia Karalis, Dorothée Dal Soglio, Jacques L. Michaud, David Chitayat, Philippe M. Campeau, Emmanuelle Lemyre, Mireille Cloutier, Luc L. Oligny, Sonia Nizard, Fadi F. Hamdan, Zoha Kibar, Christina Nassif, Catherine Fallet-Bianco, Marie-Ange Delrue
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 20(7)
Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies. We performed WES in 101 fetuses or stillborns who presented p
Autor:
Estelle Colin, Christel Thauvin-Robinet, Bernard Jost, Hélène Dollfus, Marie-Ange Delrue, Dominique Bonneau, Marjolaine Willems, Christine Francannet, Claire Feger, Michèle Mathieu-Dramard, Patrick Edery, Martine Doco-Fenzy, Laurence Olivier-Faivre, Véronique Geoffroy, Jean-Louis Mandel, Muriel Philipps, Serge Vicaire, Bérénice Doray, Alice Goldenberg, Magalie Barth, Julien Thevenon, Julia Lauer, Didier Lacombe, Gaetan Lesca, David Geneviève, Angélique Quartier, Dominique Martin-Coignard, Yvan Herenger, Serge Lumbroso, Salima El-Chehadeh, Bénédicte Gérard, Mélanie Fradin, Gilles Morin, Jean Muller, Yves Alembik, Sylvie Sukno, Amélie Piton, Nicolas Haumesser, Claire Redin, Bertrand Isidor, Elisabeth Flori, Valérie Drouin-Garraud, Pierre Sarda, Alice Masurel-Paulet, Michael Dumas, Stéphanie Le Gras, Anne Polge
Publikováno v:
Journal of Medical Genetics
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. Several hundred genes have been associated to monogenic forms of ID, considerably complicating molecular diagnostics. Trio-exome sequencing was recently pro
Autor:
François Vialard, Melanie Jimenez, Mylène Valduga, Francine Mugneret, Florence Amblard, Sylvie Jaillard, Eleonore Blondeel, Philippe Vago, M Collonge Rame, F. Carré-Pigeon, Nathalie Leporrier, Marianne Till, Radu Harbuz, Aurélie Coussement, Catherine Yardin, James Lespinasse, Pascal Chambon, Géraldine Joly-Helas, Nicolas Gruchy, Elisabeth Flori, N. Le Meur, M. Herbaut-Graux, L Lebel Roy Camille, A. Vigouroux-Castera
Publikováno v:
Prenatal Diagnosis. 34:1133-1138
The objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multid
Autor:
Mathilde Huckert, Séraphin Nguefack, John F. Bateman, Renata Moldenhauer Minillo, Nara Sobreira, Vinciane Wouters, Corinne Stoetzel, Marie-Cécile Manière, Cedrik Tekendo-Ngongang, Virginie Laugel-Haushalter, Bee Chin Chen, Vincent Laugel, Kerry A. Miller, Rutger Meinsma, Kimberly F. Doheny, Cristina Has, Stefania Gimelli, Kurt N. Hetrick, Elisabeth Flori, Sophie Dahoun, Peter G. Farlie, David Valle, John B. Mulliken, Anne Dompmartin, Helen Mecili, Georgina Caruana, Martin Poot, Susan M. White, André B.P. van Kuilenburg, Laurence Myriam Boon, Decio Brunoni, Rowani Mohd Rawi, Agnès Bloch-Zupan, Ambroise Wonkam, Ilkka Kaitila, Raoul C.M. Hennekam, Druckerei Stückle, Judith Meijer, Megan F Welfare, Ana B. Alvarez Perez, Mustapha Amyere, Satz Mengensatzproduktion, Maria de Fátima de Faria Soares, John F. Bertram, Zornitza Stark, Odile Enjolras, Jean Muller, Ebtesam M. Abdalla, Miikka Vikkula, Tiong Yang Tan, Frédérique Sloan-Béna, Julie Jurgens, Catherine Godfraind, Pierre-Louis Docquier, Hua Ling, Ravi Savarirayan, Andrew A Heggie, Hélène Dollfus, Trent Burgess
Publikováno v:
Molecular Syndromology. 5:I-IV
Autor:
Sandrine Marlin, Stephen P. Robertson, Jeanne Amiel, Nicole Porchet, M.A. Delrue, Chong Ae Kim, Florence Petit, Anne-Sophie Jourdain, Fabienne Escande, Sylvie Manouvrier-Hanu, Muriel Holder-Espinasse, Bérénice Doray, Elisabeth Flori
Publikováno v:
Clinical Genetics. 86:246-251
Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patie
Autor:
Hélène Dollfus, V. Pelletier, Cathy Obringer, Myriam Durand, Elisabeth Flori, C. Mathis, Julia Lauer, J.-J. Braun, C. Schmidt-Mutter, Corinne Stoetzel, Jean Muller, E. Schaefer, Vincent Marion, Claire Redin, A. Claussmann
Publikováno v:
Clinical Genetics. 85:476-481
Ciliopathies are heterogeneous disorders sharing different clinical signs due to a defect at the level of the primary cilia/centrosome complex. Postaxial polydactyly is frequently reported in ciliopathies, especially in Bardet-Biedl syndrome (BBS). C