Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Cécile Rouzier"'
Autor:
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
Abstract Objective The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitocho
Externí odkaz:
https://doaj.org/article/e4307533a35a473a9b33fb23706ccfa7
Autor:
Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 8, Pp n/a-n/a (2023)
Externí odkaz:
https://doaj.org/article/0a7e7570d3ec48889ab6d74d61b6f5a7
Autor:
Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot, Véronique Paquis-Flucklinger, Samira Ait-El-Mkadem Saadi, Cécile Rouzier
Publikováno v:
Genes, Vol 14, Iss 12, p 2154 (2023)
Mitochondrial disorders are characterized by a huge clinical, biochemical, and genetic heterogeneity, which poses significant diagnostic challenges. Several studies report that more than 50% of patients with suspected mitochondrial disease could have
Externí odkaz:
https://doaj.org/article/1c5ee2704590403b91070410f13650ee
Autor:
Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier, Samira Ait-El-Mkadem, Konstantina Fragaki, Véronique Paquis-Flucklinger, Sylvie Bannwarth
Publikováno v:
BMC Medical Genetics, Vol 19, Iss 1, Pp 1-13 (2018)
Abstract Background Since the advent of next generation sequencing (NGS), several studies have tried to evaluate the relevance of targeted gene panel sequencing and whole exome sequencing for molecular diagnosis of mitochondrial diseases. The compari
Externí odkaz:
https://doaj.org/article/48016aed30914f759f2a6fefd4311e47
Autor:
Céline Bordet, Sandrine Brice, Carole Maupain, Estelle Gandjbakhch, Bertrand Isidor, Aurélien Palmyre, Alexandre Moerman, Annick Toutain, Linda Akloul, Anne-Claire Brehin, Caroline Sawka, Caroline Rooryck, Elise Schaefer, Karine Nguyen, Delphine Dupin Deguine, Cécile Rouzier, Gipsy Billy, Krystelle Séné, Isabelle Denjoy, Bruno Leheup, Marc Planes, Jean-Michael Mazzella, Stéphanie Staraci, Mélanie Hebert, Elsa Le Boette, Claire-Cécile Michon, Marie-Lise Babonneau, Angélique Curjol, Amine Bekhechi, Rafik Mansouri, Ibticem Raji, Jean-François Pruny, Véronique Fressart, Flavie Ader, Pascale Richard, Sophie Tezenas du Montcel, Marcela Gargiulo, Philippe Charron
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 5, p 1365 (2020)
Predictive genetic testing (PGT) is offered to asymptomatic relatives at risk of hereditary heart disease, but the impact of result disclosure has been little studied. We evaluated the psychosocial impacts of PGT in hereditary heart disease, using se
Externí odkaz:
https://doaj.org/article/717adf062def40d4b69cc614bb0a3102
Autor:
Konstantina Fragaki, Annabelle Chaussenot, Jean-François Benoist, Samira Ait-El-Mkadem, Sylvie Bannwarth, Cécile Rouzier, Charlotte Cochaud, Véronique Paquis-Flucklinger
Publikováno v:
Biological Research, Vol 49, Iss 0, Pp 1-9
BACKGROUND: Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxidative phosphorylation dis
Externí odkaz:
https://doaj.org/article/67602aaf23a64969b797719a31de3c8c
Autor:
Claire, Bansept, Pauline, Gaignard, Elise, Lebigot, Didier, Eyer, Geoffroy, Delplancq, Célia, Hoebeke, Karin, Mazodier, Anaïs, Ledoyen, Cécile, Rouzier, Konstantina, Fragaki, Samira, Ait-El-Mkadem Saadi, Christophe, Philippe, Ange-Line, Bruel, Laurence, Faivre, François, Feillet, Marie-Thérèse, Abi Warde
Publikováno v:
Mitochondrion. 68:138-144
Isolated complex III defect is a relatively rare cause of mitochondrial disorder. New genes involved were identified in the last two decades, with only a few cases described for each deficiency. UQCRC2, which encodes ubiquinol-cytochrome c reductase
Autor:
Rym Maamouri, Syrine Hizem, Ines Kammoun, Yasmina Elaribi, Imen Rejeb, Molka Sebai, Houweyda Jilani, Cécile Rouzier, Monia Cheour, Véronique Paquis-Flucklinger, Lamia Ben Jemaa
Publikováno v:
Ophthalmic Genetics. 44:304-312
Autor:
Samira Ait-El-Mkadem Saadi, Elsa Kaphan, Amaya Morales Jaurrieta, Konstantina Fragaki, Annabelle Chaussenot, Sylvie Bannwarth, André Maues De Paula, Véronique Paquis-Flucklinger, Cécile Rouzier
Publikováno v:
European journal of medical genetics. 65(12)
Biallelic rare variants in NARS2 that encode the mitochondrial asparaginyl-tRNA synthetase are associated with a wide spectrum of clinical phenotypes ranging from severe neurodegenerative disorders to isolated mitochondrial myopathy or deafness. To d
Autor:
Cyril Goizet, Patrick Calvas, Marie-Claire Vincent, Claire Guissart, Virginie Dorian, Nicolas Molinari, Caroline Rooryck-Thambo, Cathy Liautard-Haag, Annabelle Chaussenot, Romain Favre, Catherine Alix-Panabières, Sandra Pierredon, Laetitia Monteil, Philippe Khau Van Kien, Mélanie Fradin, Amandine Boureau-Wirth, Marion Imbert-Bouteille, Emmanuelle Haquet, Elsa Le Boette, Yuliya Petrov, Jacques Puechberty, Cécile Zordan, Céline Moutou, Laure Cayrefourcq, Cécile Rouzier, Marjolaine Willems, Claire Miry
Publikováno v:
Scientific Reports
Scientific Reports, 2020, 10 (1), pp.9861. ⟨10.1038/s41598-020-66923-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports, 2020, 10 (1), pp.9861. ⟨10.1038/s41598-020-66923-9⟩
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteristics remai