Search Results - "DELRIEU, O"

Intracranial dissemination of primary spinal cord anaplastic oligodendroglioma by Ramirez, C., Delrieu, O., Mineo, J.-F., Paradot, G., Allaoui, M., Dubois, F., Blond, S.

“…We report the first case of a 22‐year‐old man, with a previously neurosurgically treated intramedullary anaplastic oligodendroglioma (World Health Organization…”
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Genetic heterogeneity of familial hemiplegic migraine by JOUTEL, A, DUCROS, A, MAZIACEK, J, WEISSENBACH, J, BOUSSER, M. G, TOURNIER-LASSERVE, E, VAHEDI, K, LABAUGE, P, DELRIEU, O, PINSARD, N, MANCINI, J, PONSOT, G, GOUTTIERE, F, GASTAUT, J. L

“…Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene responsible for this disorder to the…”
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A gene for Usher syndrome type I (USH1A) maps to chromosome 14q by Kaplan, J, Gerber, S, Bonneau, D, Rozet, J M, Delrieu, O, Briard, M L, Dollfus, H, Ghazi, I, Dufier, J L, Frézal, J

“…Usher syndrome (US) is an autosomal recessive disease characterized by congenital hearing impairment and retinitis pigmentosa. It is the most frequent cause of…”
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval by DUCROS, A, NAGY, T, GOAS, J. Y, LYON-CAEN, O, DUBOIS, B, DUCROCQ, X, SALSA, F, RAGNO, M, BURKHARD, P, BASSETTI, C, HUTCHINSON, M, VERIN, M, ALAMOWITCH, S, VIADER, F, CHAPON, F, LEVASSEUR, M, MAS, J. L, DELRIEU, O, MACIAZEK, J, PRIEUR, M, MOHRENWEISER, H, BACH, J. F, BOUSSER, M. G, NIBBIO, A, TOURNIER-LASSERVE, E, JOUTEL, A, VAHEDI, K, CHABRIAT, H, IBA-ZIZEN, M. T, JULIEN, J, DAVOUS, P

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified autosomal dominant cerebral…”
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Myasthénie auto-immune et grossesse : évolution clinique, accouchement et post-partum by Ramirez, C., de Seze, J., Delrieu, O., Stojkovic, T., Delalande, S., Fourrier, F., Leys, D., Defebvre, L., Destée, A., Vermersch, P.

“…Étudier les implications réciproques entre myasthénie auto-immune et grossesse mais aussi évaluer les risques de myasthénie néonatale chez les nouveau-nés. Une…”
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Phenotype-genotype correlations in X linked retinitis pigmentosa by Kaplan, J, Pelet, A, Martin, C, Delrieu, O, Aymé, S, Bonneau, D, Briard, M L, Hanauer, A, Larget-Piet, L, Lefrançois, P

“…Retinitis pigmentosa (RP) represents a group of clinically heterogeneous retinal degenerations in which all modes of inheritance have been described. We have…”
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The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92 by Heuertz, S, Nelen, M, Wilkie, A O, Le Merrer, M, Delrieu, O, Larget-Piet, L, Tranebjaerg, L, Bick, D, Hamel, B, Van Oost, B A

“…Previous linkage studies in X-linked spondyloepiphyseal dysplasia (SEDL) placed the gene in the region Xp22.2-p22.1 by linkage to DXS41. Here we have extended…”
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Visualizing gene determinants of disease in drug discovery by Delrieu, Olivier, Bowman, Clive

“…Target discovery, subphenotype detection and the detection of human heterogeneity are major challenges in drug discovery and development on which genetic…”
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Investigation into the multidimensional genetic basis of drug-induced Stevens-Johnson syndrome and toxic epidermal necrolysis by Pirmohamed, Munir, Arbuckle, Julian B, Bowman, Clive E, Brunner, Margaret, Burns, Daniel K, Delrieu, Olivier, Dix, Lynn P, Twomey, John A, Stern, Robert S

“…Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare severe blistering skin diseases, which are mainly caused by drugs. The two…”
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Familial lupus erythematosus. Clinical and immunologic features of 125 multiplex families by Michel, M, Johanet, C, Meyer, O, Francès, C, Wittke, F, Michel, C, Arfi, S, Tournier-Lasserve, E, Piette, J C

“…Evidence for a genetic susceptibility to systemic lupus erythematosus (SLE) in humans is based on the high concordance rate observed in identical twins and on…”
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Poly(ADP‐ribose) polymerase alleles in French Caucasians are associated neither with lupus nor with primary antiphospholipid syndrome by Delrieu, O., Michel, M., Francès, C., Meyer, O., Michel, C., Wittke, F., Crassard, I., Bach, J. F., Tournier‐Lasserve, E., Piette, J. C.

“…Objective To investigate the putative involvement of poly(ADP‐ribose) polymerase (PARP) alleles in systemic lupus erythematosus (SLE) and primary anti‐…”
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Myasthenia gravis and pregnancy: clinical course and management of delivery and the postpartum phase by Ramirez, C, de Seze, J, Delrieu, O, Stojkovic, T, Delalande, S, Fourrier, F, Leys, D, Defebvre, L, Destée, A, Vermersch, P

“…To study influences of pregnancy on the time-course of myasthenia gravis (MG) and of MG on pregnancy, delivery, postpartum and newborn. We retrospectively…”
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A Dinucleotide Repeat Polymorphism at the Poly(ADP-ribose) Polymerase Gene is not Associated with Predisposition to Type 1 Diabetes in French Caucasians by Delrieu, Olivier, Dubois-Laforgue, Danièle, Timsit, José, Tournier-Lasserve, Elisabeth, Caillat-Zucman, Sophie

“…The poly (ADP-ribose) polymerase (PARP) is a nuclear enzyme that detects and binds DNA strand breaks. Excessive PARP activation leads to the death of mice…”
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TCR alpha beta gene usage for myelin basic protein recognition in healthy monozygous twins by Shanmugam, A, Copie-Bergman, C, Falissard, B, Delrieu, O, Jais, JP, Rebibo, D, Bach, JF, Tournier-Lasserve, E

“…The pathogenic role of myelin basic protein (MBP)-specific T lymphocytes in multiple sclerosis (MS) has been suggested by the encephalitogenicity of…”
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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Ieukoencephalopathy, Genetic Homogeneity, and Mapping of the Locus within a 2-cM Interval by Ducros, A., Nagy, T., Alamowitch, S., Nibbio, A., Joutel, A., Vahedi, K., Chabriat, H., Iba-Zizen, M. T., Julien, J., Davous, P., Goas, J. Y., Lyon-Caen, O., Dubois, B., Ducrocq, X., Salsa, F., Ragno, M., Burkhard, P., Bassetti, C., Hutchinson, M., Vérin, M., Viader, F., Chapon, F., Levasseur, M., Mas, J. L., Delrieu, O., Maciazek, J., Prieur, M., Mohrenweiser, H., Bach, J. F., Bousser, M. G., Tournier-Lasserve, E.

“…Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a recently identified autosomal dominant cerebral…”
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The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52 by Lyonnet, S, Pelet, A, Royer, G, Delrieu, O, Serville, F, le Marec, B, Gruensteudel, A, Pfeiffer, R A, Briard, M L, Dubay, C

“…We report the study of five independent X-linked hydrocephalus (HSAS1) families with polymorphic DNA markers of the Xq28 region. A total of 58 individuals,…”
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Physical and genetic localization of the gamma subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25) by Dollfus, H, Mattei, M G, Rozet, J M, Delrieu, O, Munnich, A, Kaplan, J

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Phenotype-genotyupe correlations in X linked retinitis pigmentosa by KAPLAN, J, PELET, A, PLAUCHU, H, DUFIER, J. L, FREZAL, J, MUNNICH, A, MARTIN, C, DELRIEU, O, AYME, S, BONNEAU, D, BRIARD, M. L, HANAUER, A, LARGET-PIET, L, MICHEL-AWAD, A

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Reply by Delrieu, O., Tournier‐Lasserve, E., Piette, J. C.

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Reply by Delrieu, O., Tournier‐Lasserve, E., Piette, J. C.

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