Search Results - "Nectoux, J."

Genetic counseling for cystic fibrosis: A basic model with new challenges by Bieth, E., Nectoux, J., Girardet, A., Gruchy, N., Mittre, H., Laurans, M., Guenet, D., Brouard, J., Gerard, M.

“…While the goals of genetic counseling for cystic fibrosis – delivering relevant information on the risk of recurrence and nondirectional support of couples at…”
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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 by 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

“…ABSTRACT Objective To validate and evaluate the performance metrics of the high‐throughput semiconductor sequencing platform, Ion Proton®, in non‐invasive…”
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Novel FOXG1 mutations associated with the congenital variant of Rett syndrome by 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

“…Rett syndrome is a severe neurodevelopmental disorder representing one of the most common genetic causes of mental retardation in girls. The classic form is…”
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Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype by Juntas Morales, R, Walther Louvier, U, Nectoux, J, Leturc, F, Bouchet-Seraphin, C, Leboucq, N, Rigau, V, Rivier, F

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Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T) by 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

“…In this study, muscle involvement assessed by MRI and levels of GMPPB and glycosylation of α-dystroglycan expression in muscle were examined in patients with…”
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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 by Nectoux, J., Fichou, Y., Rosas‐Vargas, H., Cagnard, N., Bahi‐Buisson, N., Nusbaum, P., Letourneur, F., Chelly, J., Bienvenu, T.

“…More than 90% of Rett syndrome (RTT) patients have heterozygous mutations in the X‐linked methyl‐CpG binding protein 2 (MECP2) gene that encodes the…”
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HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients by Papadopoulos, C, Laforêt, P, Nectoux, J, Stojkovic, T, Wahbi, K, Carlier, R, Carlier, P, Leonard-Louis, S, Leturcq, F, Eymard, B, Behin, A

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Somatic mosaicism for a FOXG1 mutation: diagnostic implication by Diebold, B., Délepine, C., Nectoux, J., Bahi-Buisson, N., Parent, P., Bienvenu, T.

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The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome by NECTOUX, J, BAHI-BUISSON, N, GUELLEC, I, COSTE, J, DE ROUX, N, ROSAS, H, TARDIEU, M, CHELLY, J, BIENVENU, T

“…X chromosome inactivation and the MECP2 genotype do not provide the full explanations for the clinical differences between patients with Rett syndrome (RTT),…”
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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 by Nelson, I, BenYaou, R, Nectoux, J, Masson, C, Leturq, F, Richard, P, Stojkovic, T, Behin, A, Laforêt, P, Allamand, V, Eymard, B, Bonne, G

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Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy by 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

“…Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome-like phenotype…”
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Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome by Nectoux, J, Heron, D, Tallot, M, Chelly, J, Bienvenu, T

“…The CDKL5 gene has been implicated in infantile spasms and more recently in a Rett syndrome‐like phenotype. We report a case of a young girl presenting…”
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Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies by 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

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P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency by 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

“…Mutations in the LAMA2 gene underlie a severe congenital type of muscular dystrophy (MDC1A). We report the clinical, histological and genotypic features of 2…”
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G.P.281 by 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

“…Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H). Few cases have been described to date, but this gene is not systematically…”
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International incidence of childhood brain and spinal tumours by Stiller, C A, Nectoux, J

“…Intracranial and spinal cord tumours are the second most frequent type of childhood cancer after leukaemia, accounting for around 20% of cases in many regions…”
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The epidemiology of prostatic cancer. Geographical distribution and time-trends by Muir, C S, Nectoux, J, Staszewski, J

“…Prostate cancer is one of the most frequent tumours in males. Globally about 235,000 new cases were estimated to occur in 1980. The cancer is particularly…”
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Détection de l’ADN tumoral circulant (ctDNA) dans les corticosurrénalomes by 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

“…Introduction Les cancers relarguent dans la circulation de l’ADN tumoral circulant. Le ctDNA peut être détecté en recherchant dans le plasma les mutations…”
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628P Development of a CRISPR/CasX 4q telomeric region ablation strategy for FSHD1 using an isogenic hiPSC line and a FSHD1 fibroblast cell line by Lama, C., de Graaf, N., Akar, R. Bou, Danaus, P., Suel-Petat, L., Nectoux, J., Authier, F., Relaix, F., Richard, I., Malfatti, E.

“…Facioscapulohumeral muscular dystrophy type 1 (FSHD1), the second most common myopathy affecting adults, is linked to a contraction to less than 11 Repeated…”
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International variations in the incidence of childhood bone tumours by Parkin, D M, Stiller, C A, Nectoux, J

“…Bone cancers comprise about 5% of childhood neoplasms. Osteosarcoma, the most common sub-type, shows a somewhat irregular geographic pattern of incidence, with…”
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