Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Danielle Cuntz-Shadfar"'
Autor:
Sylvain Vergnet, Jean Phillipe Azulay, Isabelle Meunier, Audrey Riquet, Olivier Patat, Anna Castrioto, Laurent Pasquier, Cyril Charlin, Lena Damaj, Cécile Acquaviva, Nicolas Lebouc, Bérénice Doray, Cecilia Marelli, Morgane Pointaux, Pierre Meyer, Perrine Charles, Danielle Cuntz-Shadfar, Caroline Tillikete, Frederic Villega, Cathy Lieutard-Haag, Michel Koenig, François Rivier, Idriss Bousquet, Ganaëlle Remerand, Ulrike Walther-Louvier, Clarisse Carra-Dalliere, Victoria Gonzales, Alexandre Eusebio, Brigitte Chabrol, Emilie Carme, Pierre Labauge, Adrian Degardin, Elise Brischoux-Boucher, Brice Laurens, Laurent Kremer, Giovanni Castelnovo, Mélanie Fradin, Mehdi Benkirane, Karine Nguyen, Jean-Marie Ravel, Vincent Laugel, Emilien Bernard, Claire Guissart, Cyril Goizet, Samira Sissaoui, Agathe Roubertie, Christine Francannet, Sylvie Odent, Yosra Halleb, Xavier Ayrignac, Shahram Attarian, Fabienne Ory Magne, David Geneviève, Joel Victor Fluss, Alain Verloes, Anne Rolland, Martial Mallaret, Lydia Abou Haidar, Nadia Bahi-Buisson, David Baux, Catherine Sarret, Nicolas Carrière, Christine Coubes, Mathilde Renaud, Claire Ewenczyk, Patrick Calvas, Solène Frismand, Leila Lazaro, Bertrand Isidor, Annabelle Chaussenot, Sophie Julia, Valerie Fraix, Elsa Kaphan, Tatiana Witjas, Frédérique Fluchère, Mathieu Anheim, Christine Tranchant, William Camu, Eric Thouvenot, Lise Larrieu, Eric Bieth, Ariane Choumert, Raoul Morales, Marinha Costa Moreira, Elizabeth Ollagnon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-021-01250-6⟩
Genetics in Medicine, Nature Publishing Group, 2021, ⟨10.1038/s41436-021-01250-6⟩
International audience; Purpose: Diagnosis of inherited ataxia and related diseases represents a real challenge given the tremendous heterogeneity and clinical overlap of the various causes. We evaluated the efficacy of molecular diagnosis of these d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::babfbeb68f31ca6afb2b34ab5e5a2e4e
https://hal.archives-ouvertes.fr/hal-03282716
https://hal.archives-ouvertes.fr/hal-03282716
Autor:
Claire Guissart, Eugénie Mutez, Clarisse Carra-Dalliere, Mathieu Anheim, Danielle Cuntz-Shadfar, Adrian Degardin, Jean-Philippe Villemin, Sabrina Sacconi, Jean-Philippe Azulay, Christine Tranchant, Nicolas Pageot, Michel Koenig, Victoria Gonzalez, Xavier Ayrignac, Cécile Hubsch, Christian Geny, Claude Mignard, Dominique Chretien, Elisabeth Ollagnon, Cecilia Marelli, Cyril Goizet, Raul Juntas Morales, Bertrand Carlander, Lise Larrieu, Laurine Perrin, Mireille Claustres, Ouhaid Lagha-Boukbiza, Patrick Calvas, Anelia Benarrosh, Mathilde Renaud, Souhayla Azakri, Pierre Labauge, Patrick Collignon, Perrine Charles
Publikováno v:
Human Mutation. 37:1340-1353
Next-generation sequencing (NGS) has an established diagnostic value for inherited ataxia. However, the need of a rigorous process of analysis and validation remains challenging. Moreover, copy number variations (CNV) or dynamic expansions of repeate