Search Results - "Jambou, M."

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome by Assouline, Z., Jambou, M., Rio, M., Bole-Feysot, C., de Lonlay, P., Barnerias, C., Desguerre, I., Bonnemains, C., Guillermet, C., Steffann, J., Munnich, A., Bonnefont, J.P., Rötig, A., Lebre, A.S.

“…Isolated complex I deficiency is a frequent cause of respiratory chain defects in childhood. In this study, we report our systematic approach with blue native…”
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The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome by Brahimi, N., Jambou, M., Sarzi, E., Serre, V., Boddaert, N., Romano, S., de Lonlay, P., Slama, A., Munnich, A., Rötig, A., Bonnefont, J.P., Lebre, A.S.

“…Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this study, we…”
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Paternal deletion of the GNAS imprinted locus (including ) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties by GENEVIEVE, David, SANLAVILLE, Damien, MUNNICH, Arnold, ROMANA, Serge, RAOUL, Odile, CORMIER-DAIRE, Valérie, VEKEMANS, Michel, FAIVRE, Laurence, KOTTLER, Marie-Laure, JAMBOU, Marguerite, GOSSET, Philippe, BOUSTANI-SAMARA, Dinane, PINTO, Graziella, OZILOU, Catherine, ABEGUILE, Geneviève

“…Deletions of the long arm of chromosome 20 are rare. Here, we report on two girls with a very small interstitial deletion of the long arm of chromosome 20…”
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Common genomic HLA haplotypes contributing to successful donor search in unrelated hematopoietic transplantation by PEDRON, B, DUVAL, M, ELBOU, O. M, MOSKWA, M, JAMBOU, M, VILMER, E, STERKERS, G

“…The aim of the study was to identify the most frequent HLA haplotypes in order to optimize donor searches in unrelated hematopoietic stem cell (HSC)…”
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REACTIVE OXYGEN SPECIES INDUCE APOPTOSIS OF SYNOVIOCYTES IN VITRO. α-TOCOPHEROL PROVIDES NO PROTECTION by Galleron, S, Borderie, D, Ponteziere, Ch, Lemarechal, H, Jambou, M, Roch-Arveiller, M, Ekindjian, O.G, Cals, M.J

“…Reactive oxygen species (ROS) are released during the inflammation of the synovial membrane associated with cartilage degradation in osteoarthritis. In this…”
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Mutations du gène WNT10A, vers un phénotype caractéristique by Hadj-Rabia, S., Jambou, M., Cuzeau, C., Bonnefont, J.-P., Smahi, A., Bodemer, C.

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Characterization of the B5002-Cw0602-DRB10406-DQB10402 Haplotype: impact on the unrelated-bone marrow donor search strategy by Ansart-Pirenne, H., Dufossé, F., Duval, M., Cracco, P., Jambou, M., Pédron, B., Vilmer, E., Sterkers, G.

“…: Improvements in HLA‐typing by DNA‐based methods now allow accurate genotyping of unrelated bone marrow (UBM) donors and recipients and also definition of…”
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Clinical, haemodynamic and genetic features of familial pulmonary arterial hypertension by Sztrymf, B, Francoual, J, Sitbon, O, Labrune, P, Jambou, M, Poüs, C, Simonneau, G, Humbert, M

“…Pulmonary arterial hypertension (PAH) is defined by a raised pressure in the pulmonary arterial circulation associated with small vessel narrowing due to…”
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Paper 22: Arthroscopic Treatment of the Iliotibial Band Syndrome by Jambou, Stephane, MD, France, Michels, Frederick, MD, Belgium, Allard, Michel, France, Bousquet, Vincent, France, Colombet, Philippe, MD, France, de Lavigne, Christophe, France

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Paper 55: Minimal Invasive Ankle Lateral Stabilization Using A Split Peroneus Brevis Graft by Jambou, Stephane, MD, France, King-Martinez, Ana Cristina, MD, Mexico, de Lavigne, Christophe, France, Guillo, Stephane, MD, France, Cuellar, Alberto, MD, Mexico

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Paper 61: Arthroscopic Treatment of Anterior Ankle Impingement: Results of a 70 Patient Multicenter Prospective Study by Bauer, Thomas, France, Pierrard, Guillaume, France, Acquitter, Yvan, France, Vandamme, Geert, Belgium, Ghorbani, Ali, France, Laffenetre, Olivier, France, Determe, Patrice, France, Jambou, Stephane, MD, France

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