Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Marion Gerard-Blanluet"'
Autor:
Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Exome sequencing has a diagnostic yield ranging from 25% to 70% in rare diseases and regularly implicates genes in novel disorders. Retrospective data reanalysis has demonstrated strong efficacy in improving diagnosis, but poses organiz
Externí odkaz:
https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bd
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:
Alexis Arzimanoglou, Marion Gerard-Blanluet, Jean Michel Pedespan, Aga J. Lewelt, Mylynda Schlesinger-Massart, Sandra P. Reyna, Francis Renault, Kenneth Silver, Kathryn J. Swoboda, Matthew T. Sweney
Publikováno v:
Pediatrics. 123(3)
OBJECTIVES. Alternating hemiplegia of childhood is a predominantly sporadic neurodevelopmental syndrome of uncertain etiology. In more than 3 decades since its description, little progress has been made in understanding its etiology or in identifying
Autor:
Claude, Messiaen, Loïc, Le Mignot, Ana, Rath, Jean-Baptiste, Richard, Eric, Dufour, Mohamed, Ben Said, Jean-Philippe, Jais, Alain, Verloes, Martine, Le Merrer, Christine, Bodemer, Geneviève, Baujat, Marion, Gerard-Blanluet, Eva, Bourdon-Lanoy, Rémi, Salomon, Ségolène, Ayme, Paul, Landais
Publikováno v:
Studies in health technology and informatics. 136
Rare diseases include a group of conditions characterized by a prevalence lower than 5 per 10,000 in the community. In France, any rare disease affects less than 30,000 patients and often much less. Three to 4% of children and 6% of the population in