Search Results - "Spentchian, M."

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations by Extramiana, F., Milleron, O., Elbitar, S., Uccellini, A., Langeois, M., Spentchian, M., Delorme, G., Arnoult, F., Denjoy, I., Bouleti, C., Fressart, V., Iserin, F., Maison-Blanche, P., Abifadel, M., Leenhardt, A., Boileau, C., Jondeau, G.

“…Mutations in the TGFβR2 gene have been associated with a life threatening risk of aortic dissection but no arrhythmic death has been previously reported. Two…”
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Trisomy 4, a new chromosomal abnormality in Waldenström's macroglobulinemia: a study of 39 cases by Terré, C, Nguyen-Khac, F, Barin, C, Mozziconacci, M J, Eclache, V, Léonard, C, Chapiro, E, Farhat, H, Bouyon, A, Rousselot, P, Choquet, S, Spentchian, M, Dubreuil, P, Leblond, V, Castaigne, S

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Rapid clinical improvement of peripheral artery occlusive disease symptoms after nilotinib discontinuation despite persisting vascular occlusion by Maurizot, A, Beressi, J-P, Manéglier, B, de la Marre, N H, Spentchian, M, Soury, P, Solvet-Sebire, P, Collet-Gaudillat, C, Baud, J-M, Livarek, B, Guilhot, F, Rousselot, P

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Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene by Herasse, M, Spentchian, M, Taillandier, A, Keppler-Noreuil, K, Fliorito, A N M, Bergoffen, J, Wallerstein, R, Muti, C, Simon-Bouy, B, Mornet, E

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Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene by Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Gläser, D., Holder, S. E., Ivarsson, S-A., Kostiner, D., Mansour, S., Norman, A., Roth, J., Stipoljev, F., Taillemite, J-L., van der Smagt, J. J., Serre, J-L., Simon-Bouy, B., Taillandier, A., Mornet, E.

“…Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/bone/kidney alkaline…”
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Cause of death in patients with Marfan syndrome by Baghdadi, D., Milleron, O., Langeois, M., Spentchian, M., Arnoult, F., Delorme, G., Jondeau, G.

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Aortic dissection in Marfan syndrome: is bicuspid aortic valve (BAV) a risk factor? by Milleron, O., Baghdadi, D., Langeois, M., Spentchian, M., Arnoult, F., Delorme, G., Jondeau, G.

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Early diagnosis of vertebral osteomyelitis due to a rare pathogen: Haemophilus parainfluenzae by Beauvais, C, Berenbaum, F, Spentchian, M, Prier, A, Kaplan, G

“…Bone and joint infections due to Haemophilus parainfluenzae are unusual. We describe a case of hematogenous vertebral osteomyelitis caused by this commensal…”
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Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients by Hérasse, Muriel, Spentchian, Marc, Taillandier, Agnès, Mornet, Etienne

“…Hypophosphatasia is a rare inborn error of metabolism characterised by defective bone mineralisation caused by a deficiency of liver-, bone- or kidney-type…”
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Time course of troponin I, myoglobin, and cardiac enzyme release after electrical cardioversion by Georges, Jean-Louis, Spentchian, Marc, Caubel, Christine, Collignon, Isabelle, Schwob, Jacques, Livarek, Bernard, Normand, Jean-Pierre

“…These results allow us to conclude that direct-current cardioversion, even preceded by mechanical resuscitation of short duration, does not result in…”
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Severe hypophosphatasia: Characterization of fifteen novel mutations in the ALPL gene: MUTATIONS IN BRIEF by Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Gläser, D., Holder, S. E., Ivarsson, S-A., Kostiner, D., Mansour, S., Norman, A., Roth, J., Stipoljev, F., Taillemite, J-L., van der Smagt, J. J., Serre, J-L., Simon-Bouy, B., Taillandier, A., Mornet, E.

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Time course of troponin I, myoglobulin, and cardiac enzyme release after electrical cardioversion by Georges, J L, Spentchian, M, Caubel, C, Collignon, I, Schwob, J, Livarek, B, Normand, J P

“…The results of this study, conducted in 25 patients without myocardial infarction, showed that all the biologic markers of myocardial infarction, except the…”
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Time source of troponin I, myoglobin, and cardiac enzyme release after electrical cardioversion by GEORGES, J.-L, SPENTCHIAN, M, CAUBEL, C, COLLIGNON, I, SCHWOB, J, LIVAREK, B, NORMAND, J.-P

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