Performance of semiconductor sequencing platform for non‐invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting
El Khattabi, L. Allach, Brun, S., Gueguen, P., Chatron, N., Guichoux, E., Schutz, S., Nectoux, J., Sorlin, A., Quere, M., Boudjarane, J., Tsatsaris, V., Mandelbrot, L., Schluth‐Bolard, C., Dupont, J. M., Rooryck, C., Cormier, Alexandre, Ferec, Claude, Da Foncesca Pipoli, Juliana, Letourneur, Franck, Bonnet, Céline, Jonveaux, Philippe, Bardel, Claire, Lagarde, Arnaud, Badens, Catherine, Levy, Nicolas, Duboc, Véronique, Paquis‐Fluckinger, Véronique, Boureau‐Wirth, Amandine, Bannwarth, Sylvie, Arveiler, Benoît, Lacombe, Didier, Goossens, Michel, Vidaud, Michel, Massardier, Jérôme, Saliou, Anne‐Hélène, Sanlaville, Damien
Published in Ultrasound in obstetrics & gynecology (01.08.2019)
Published in Ultrasound in obstetrics & gynecology (01.08.2019)
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Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
Mencarelli, M A, Spanhol-Rosseto, A, Artuso, R, Rondinella, D, De Filippis, R, Bahi-Buisson, N, Nectoux, J, Rubinsztajn, R, Bienvenu, T, Moncla, A, Chabrol, B, Villard, L, Krumina, Z, Armstrong, J, Roche, A, Pineda, M, Gak, E, Mari, F, Ariani, F, Renieri, A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)
Oestergaard, S T, Stojkovic, T, Dahlqvist, J R, Bouchet-Seraphin, C, Nectoux, J, Leturcq, F, Cossée, M, Solé, G, Thomsen, C, Krag, T O, Vissing, J
Published in Neurology. Genetics (01.12.2016)
Published in Neurology. Genetics (01.12.2016)
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Cell cloning‐based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes
Nectoux, J., Fichou, Y., Rosas‐Vargas, H., Cagnard, N., Bahi‐Buisson, N., Nusbaum, P., Letourneur, F., Chelly, J., Bienvenu, T.
Published in Journal of cellular and molecular medicine (01.07.2010)
Published in Journal of cellular and molecular medicine (01.07.2010)
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HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients
Papadopoulos, C, Laforêt, P, Nectoux, J, Stojkovic, T, Wahbi, K, Carlier, R, Carlier, P, Leonard-Louis, S, Leturcq, F, Eymard, B, Behin, A
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Somatic mosaicism for a FOXG1 mutation: diagnostic implication
Diebold, B., Délepine, C., Nectoux, J., Bahi-Buisson, N., Parent, P., Bienvenu, T.
Published in Clinical genetics (01.06.2014)
Published in Clinical genetics (01.06.2014)
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The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
Nectoux, J, Bahi-Buisson, N, Guellec, I, Coste, J, De Roux, N, Rosas, H, Tardieu, M, Chelly, J, Bienvenu, T
Published in Neurology (27.05.2008)
Published in Neurology (27.05.2008)
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Whole exome sequencing at the Institute of Myology in the context of the Myocapture project to identify novel genes of myopathies
Nelson, I, BenYaou, R, Nectoux, J, Masson, C, Leturq, F, Richard, P, Stojkovic, T, Behin, A, Laforêt, P, Allamand, V, Eymard, B, Bonne, G
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
Rosas-Vargas, H, Bahi-Buisson, N, Philippe, C, Nectoux, J, Girard, B, N’Guyen Morel, M A, Gitiaux, C, Lazaro, L, Odent, S, Jonveaux, P, Chelly, J, Bienvenu, T
Published in Journal of medical genetics (01.03.2008)
Published in Journal of medical genetics (01.03.2008)
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Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies
Avila-Polo, R, Malfatti, E, Nelson, I, Nectoux, J, Böhm, J, Abath-Neto, O, Eymard, B, Monges, S, Lubieniecki, F, Brochier, G, Beuvin, M, Madelaine, A, Labasse, C, Taratuto, A, Udd, B, Richard, I, Leturcq, F, Bonne, G, Laporte, J, Romero, N
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
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P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency
Stojkovic, T, Nelson, I, Nectoux, J, Cossee, M, Allamand, V, Gartioux, C, Yaou, R. Ben, Ferreiro, A, Richard, P, Carlier, P.Y, Carlier, P, Dupont, S, Lehéricy, S, Eymard, B, Bonne, G
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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G.P.281
Nectoux, J, de Cid, R, Baulande, S, Leturcq, F, Urtizberea, J.A, Penisson-Besnier, I, Nadaj Pakleza, A, Roudaut, C, Criqui, A, Orhant, L, Peyroulan, D, Yaou, R. Ben, Nelson, I, Arné-Bes, M.C, Nitschke, P, Claustres, M, Bonne, G, Lévy, N, Chelly, J, Richard, I, Cossée, M
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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Détection de l’ADN tumoral circulant (ctDNA) dans les corticosurrénalomes
Garinet, S, Neou, M, Pipoli, J, Letourneur, F, Faillot, S, Pasmant, E, Vidaud, M, Clauser, E, Nectoux, J, Libé, R, Jouinot, A, Perlemoine, K, René-Corail, F, Bertherat, J, Assié, G
Published in Annales d'endocrinologie (01.09.2016)
Published in Annales d'endocrinologie (01.09.2016)
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INFLAMMATORY MYOPATHIES
Villanova, M., Ivanovic-Barbeito, Y., Romero, N., Nectoux, J., Mongini, T., Leturcq, F., Malfatti, E.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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INFLAMMATORY MYOPATHIES: P.152Early-onset anti-HMGCR myopathy associated with muscle mitochondrial alterations and calpain-3 deficiency
Villanova, M., Ivanovic-Barbeito, Y., Romero, N., Nectoux, J., Mongini, T., Leturcq, F., Malfatti, E.
Published in Neuromuscular disorders : NMD (01.10.2018)
Published in Neuromuscular disorders : NMD (01.10.2018)
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