Search Results - "Ollagnon, E."

Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital by Pons, L., Till, M., Alix, E., Abel, C., Boggio, D., Bordes, A., Caloone, J., Raskin, F.C., Chatron, N., Cordier, M.-P., Fichez, A., Labalme, A., Lajeunesse, C., Liaras, É., Massoud, M., Miribel, J., Ollagnon, E., Schluth-Bolard, C., Vichier-Cerf, A., Edery, P., Attia, J., Huissoud, C., Rudigoz, R.C., Massardier, J., Gaucherand, P., Sanlaville, D.

“…This study aims to describe how microarray comparative genomic hybridization (aCGH) has shifted to become a prenatal diagnosis tool at the Lyon…”
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NARP mitochondriopathy : An unusual cause of progressive myoclonic epilepsy by JUNG, J, MAUGUIERE, F, CLERC-RENAUD, P, OLLAGNON, E, MOUSSON DE CAMARET, B, RYVLIN, P

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C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy by Richard, P, Ledeuil, C, Gartioux, C, Torrieri, L, Briñas, L, Ferreiro, A, Toutain, A, Makri, S, Ollagnon, E, Eymard, B, Quijano-Roy, S, Estournet, B, Guicheney, P, Allamand, V

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Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population by Latour, P, Lévy, N, Paret, M, Chapon, F, Chazot, G, Clavelou, P, Couratier, P, Dumas, R, Ollagnon, E, Pouget, J, Setiey, A, Vallat, J M, Boucherat, M, Fontes, M, Vandenberghe, A

“…The present study reports eight additional mutations in the connexin32 gene associated with the X-linked form of Charcot-Marie-Tooth disease. One of these…”
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Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases by Humbertclaude, V, Hamroun, D, Picot, M-C, Bezzou, K, Bérard, C, Boespflug-Tanguy, O, Bommelaer, C, Campana-Salort, E, Cances, C, Chabrol, B, Commare, M-C, Cuisset, J-M, de Lattre, C, Desnuelle, C, Echenne, B, Halbert, C, Jonquet, O, Labarre-Vila, A, N'guyen-Morel, M-A, Pages, M, Pepin, J-L, Petitjean, T, Pouget, J, Ollagnon-Roman, E, Richelme, C, Rivier, F, Sacconi, S, Tiffreau, V, Vuillerot, C, Béroud, C, Tuffery-Giraud, S, Claustres, M

“…The objective of this work was to study the natural history of dystrophinopathies and the genotype-phenotype correlations made possible by the development of…”
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Unilateral presentation of X-linked myotubular myopathy (XLMTM) in two out of three female carriers in a family with no affected male by Drouet, A, Ollagnon-Roman, E, Streichenberger, N, Biancalana, V, Cossée, M, Guilloton, L, Petiot, P

“…X-linked myotubular myopathy (XLMTM), a recessive disorder, is caused by mutations affecting the myotubulatin (MTM1) gene located on the X chromosome. Most of…”
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Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins by RICHARD, I, BRENGUIER, L, KURNIT, D. M, LEFRANC, G, LEGUM, C, LOISELET, J, MERLINI, L, NIVELON-CHEVALLIER, A, OLLAGNON-ROMAN, E, RESTAGNO, G, TOPALOGLU, H, BECKMANN, J. S, DINCER, P, ROUDAUT, C, BADY, B, BURGUNDER, J.-M, CHEMALY, R, GARCIA, C. A, HALABY, G, JACKSON, C. E

“…Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding…”
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La dystrophie musculaire des ceintures autosomique dominante associée à des troubles de la conduction cardiaque (LGMD1B). Description de 8 nouvelles familles avec mutations du gène LMNA by Ben Yaou, R., Bécane, H.-M., Demay, L., Laforet, P., Hannequin, D., Bohu, P.-A., Drouin-Garraud, V., Ferrer, X., Mussini, J.-M., Ollagnon, E., Petiot, P., Penisson-Besnier, I., Streichenberger, N., Toutain, A., Richard, P., Eymard, B., Bonne, G.

“…La dystrophie musculaire des ceintures de type 1B (LGMD1B), due à des mutations du gène LMNA, associe une faiblesse musculaire des ceintures à une atteinte…”
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Expression hémicorporelle d’une myopathie myotubulaire liée à l’X (XLMTM) chez deux des trois femmes conductrices d’une même famille sans cas masculin by Drouet, A., Ollagnon-Roman, E., Streichenberger, N., Biancalana, V., Cossée, M., Guilloton, L., Petiot, P.

“…La myopathie myotubulaire liée à l’X (XLMTM), causée par des mutations dans le gène de la myotubularine ( MTM1) est le plus souvent précocement sévère chez les…”
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SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations by Latour, Philippe, Gonnaud, Pierre-Marie, Ollagnon, Elisabeth, Chan, Victor, Perelman, Serge, Stojkovic, Tanya, Stoll, Claude, Vial, Christophe, Ziegler, François, Vandenberghe, Antoon, Maire, Irène

“…Charcot‐Marie‐Tooth disease type 1C (CMT1C) is caused by mutations in the small integral membrane protein of the lysosome/late endosome (SIMPLE). We analyzed…”
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues by Biancalana, Valérie, Scheidecker, Sophie, Miguet, Marguerite, Laquerrière, Annie, Romero, Norma B., Stojkovic, Tanya, Abath Neto, Osorio, Mercier, Sandra, Voermans, Nicol, Tanner, Laura, Rogers, Curtis, Ollagnon-Roman, Elisabeth, Roper, Helen, Boutte, Célia, Ben-Shachar, Shay, Lornage, Xavière, Vasli, Nasim, Schaefer, Elise, Laforet, Pascal, Pouget, Jean, Moerman, Alexandre, Pasquier, Laurent, Marcorelle, Pascale, Magot, Armelle, Küsters, Benno, Streichenberger, Nathalie, Tranchant, Christine, Dondaine, Nicolas, Schneider, Raphael, Gasnier, Claire, Calmels, Nadège, Kremer, Valérie, Nguyen, Karine, Perrier, Julie, Kamsteeg, Erik Jan, Carlier, Pierre, Carlier, Robert-Yves, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Fardeau, Michel, Zanoteli, Edmar, Eymard, Bruno, Laporte, Jocelyn

“…X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected…”
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Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy by Klebe, S., Depienne, C., Gerber, S., Challe, G., Anheim, M., Charles, P., Fedirko, E., Lejeune, E., Cottineau, J., Brusco, A., Dollfus, H., Chinnery, P., Macini, C., Ferrer, X., Sole, G., Destee, A., Mayer, J., Fontaine, B., De Seze, J., Clanet, M., Ollagnon, E., Busson, P., Cazeneuve, C., Stevanin, G., Kaplan, J., Rozet, J., Brice, A., Durr, A.

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Expression hémicorporelle d'une myopathie myotubulaire liée à l'X (XLMTM) chez deux des trois femmes conductrices d'une même famille sans cas masculin by DROUET, A, OLLAGNON-ROMAN, E, STREICHENBERGER, N, BIANCALANA, V, COSSEE, M, GUILLOTON, L, PETIOT, P

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CTG instability in myotonic dystrophy: molecular genetic analysis of families from south-eastern France with characteristics of intergenerational variation in CGT repeat numbers by Duthel, S, Bost, M, Ollagnon, E, Vial, C, Petiot, P, Chazot, G, Vandenberghe, A

“…We report clinical, genetical and genealogical findings in 149 French families from the Rhône-Alpes area studied over a 5-year period. There was a significant…”
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NF2 Gene in Neurofibromatosis Type 2 Patients by Zucman-Rossi, Jessica, Legoix, Patricia, Der Sarkissian, Hera, Cheret, Genevieve, Sor, Frederic, Bernardi, Alberto, Cazes, Lucien, Giraud, Sophie, Ollagnon, Elisabeth, Lenoir, Gilbert, Thomas, Gilles

“…Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. The schwannomin (also termed merlin) protein…”
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Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds by Bauer, Peter, Stevanin, Giovanni, Beetz, Christian, Synofzik, Matthis, Schmitz-Hübsch, Tanja, Wüllner, Ullrich, Berthier, Eric, Ollagnon-Roman, Elisabeth, Riess, Olaf, Forlani, Sylvie, Mundwiller, Emeline, Durr, Alexandra, Schöls, Ludger, Brice, Alexis

“…BackgroundAt least 28 loci have been linked to autosomal dominant spinocerebellar ataxia (ADCA). Causative genes have been cloned for 10 nucleotide repeat…”
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Adrénoleucodystrophie liée à l'X chez une proposante symptomatique : présentation clinique, diagnostic biologique et conséquences familiales by Lesca, G., Vanier, M.T., Creisson, E., Bendelac, N., Hainque, B., Ollagnon-Roman, E., Aubourg, P.

“…Introduction. – L'adrénoleucodystrophie liée à l'X (ALD) est la plus fréquente des leucodystrophies. Le phénotype est très variable chez les garçons et plus de…”
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Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations by Ben Yaou, R, Bécane, H-M, Demay, L, Laforet, P, Hannequin, D, Bohu, P-A, Drouin-Garraud, V, Ferrer, X, Mussini, J-M, Ollagnon, E, Petiot, P, Penisson-Besnier, I, Streichenberger, N, Toutain, A, Richard, P, Eymard, B, Bonne, G

“…Limb girdle muscular dystrophy type 1b (LGMD1B), due to LMNA gene mutations, is a relatively rare form of LGMD characterized by proximal muscle involvement…”
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Conséquences familiales du diagnostic de dystrophie myotonique de Steinert porté lors de la naissance d’un enfant atteint de forme congénitale by Lesca, G, Haÿs, S, Bourgeois, J, Bost, M, Ollagnon-Roman, E, Putet, G

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McKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up by Gaucherand, Pascal, Vavasseur-Monot, Chantal, Ollagnon, Elizabeth, Boisson, Catherine, Labaune, Jean-Marc, Basset, Thierry, Yared, George

“…McKusick‐Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac…”
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