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187 results on '"Sinet, Pierre-Marie"'

5. Family trios analysis of common polymorphisms in the obestatin/ghrelin, BDNF and AGRP genes in patients with Anorexia nervosa: Association with subtype, body-mass index, severity and age of onset

Author

Dardennes, Roland M., Zizzari, Philippe, Tolle, Virginie, Foulon, Christine, Kipman, Amélie, Romo, Lucia, Iancu-Gontard, Dana, Boni, Claudette, Sinet, Pierre-Marie, Thérèse Bluet, Marie, Estour, Bruno, Mouren, Marie-Christine, Guelfi, Julien-Daniel, Rouillon, Frédéric, Gorwood, Philip, and Epelbaum, Jacques

Published
2007
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17. Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region

Author

Chettouh, Zoubida, Croquette, Marie-Françoise, Delobel, Bruno, Gilgenkrants, Simone, Leonard, Claude, Maunoury, Catherine, Prieur, Marguerite, Rethoré, Marie-Odile, Sinet, Pierre-Marie, Chery, Michèle, and Delabar, Jean-Maurice

Subjects
Adult, Male, Letter, Adolescent, Chromosomes, Human, Pair 21, Superoxide Dismutase, Chromosome Mapping, Original Articles, Amyloid beta-Protein Precursor, Child, Preschool, Karyotyping, Humans, Female, Chromosome Deletion
Abstract

We compared the phenotypes, karyotypes, and molecular data for six cases of partial monosomy 21. Regions of chromosome 21, the deletion of which corresponds to particular features of monosomy 21, were thereby defined. Five such regions were identified for 21 features. Ten of the features could be assigned to the region flanked by genes APP and SOD1: six facial features, transverse palmar crease, arthrogryposis-like symptoms, hypertonia, and contribution to mental retardation. This region, covering the interface of bands 21q21-21q22.1, is 4.7–6.4 Mb long and contains the gene encoding the glutamate receptor subunit GluR5 (GRIK1).

Published
1995

18. Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Author

Lyle, Robert, primary, Béna, Frédérique, additional, Gagos, Sarantis, additional, Gehrig, Corinne, additional, Lopez, Gipsy, additional, Schinzel, Albert, additional, Lespinasse, James, additional, Bottani, Armand, additional, Dahoun, Sophie, additional, Taine, Laurence, additional, Doco-Fenzy, Martine, additional, Cornillet-Lefèbvre, Pascale, additional, Pelet, Anna, additional, Lyonnet, Stanislas, additional, Toutain, Annick, additional, Colleaux, Laurence, additional, Horst, Jürgen, additional, Kennerknecht, Ingo, additional, Wakamatsu, Nobuaki, additional, Descartes, Maria, additional, Franklin, Judy C, additional, Florentin-Arar, Lina, additional, Kitsiou, Sophia, additional, Aït Yahya-Graison, Emilie, additional, Costantine, Maher, additional, Sinet, Pierre-Marie, additional, Delabar, Jean M, additional, and Antonarakis, Stylianos E, additional

Published
2008
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19. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in 'Mirror' duplications of chromosome 21

Author

Pangalos, Constantinos, Théophile, Didier, Sinet, Pierre-Marie, Marks, Alexander, Stamboulieh-Abazis, Danai, Chettouh, Zoubida, Prieur, Marguerite, Verellen, Christine, Rethoré, Marie-Odile, Lejeune, Jérôme, and Delabar, Jean-Maurice

Subjects
Adult, Chromosome Aberrations, Male, Genotype, Chromosomes, Human, Pair 21, Infant, Newborn, Chromosome Disorders, Original Articles, Monosomy, Phenotype, Karyotyping, Humans, Female, Down Syndrome, Child
Abstract

Three Down syndrome patients for whom karyotypic analysis showed a "mirror" (reverse tandem) duplication of chromosome 21 were studied by phenotypic, cytogenetic, and molecular methods. On high-resolution R-banding analysis performed in two cases, the size of the fusion 21q22.3 band was apparently less than twice the size of the normal 21q22.3, suggesting a partial deletion of distal 21q. The evaluation of eight chromosome 21 single-copy sequences of the 21q22 region--namely, SOD1, D21S15, D21S42, CRYA1, PFKL, CD18, COL6A1, and S100B--by a slot blot method showed in all three cases a partial deletion of 21q22.3 and partial monosomy. The translocation breakpoints were different in each patient, and in two cases the rearranged chromosome was found to be asymmetrical. The molecular definition of the monosomy 21 in each patient was, respectively, COL6A1-S100B, CD18-S100B, and PFKL-S100B. DNA polymorphism analysis indicated in all cases a homozygosity of the duplicated material. The duplicated region was maternal in two patients and paternal in one patient. These data suggest that the reverse tandem chromosomes did not result from a telomeric fusion between chromosomes 21 but from a translocation between sister chromatids. The phenotypes of these patients did not differ significantly from that of individuals with full trisomy 21, except in one case with large ears with an unfolded helix. The fact that monosomy of distal 21q22.3 in these patients resulted in a phenotype very similar to Down syndrome suggests that the duplication of the genes located in this part of chromosome 21 is not necessary for the pathogenesis of the Down syndrome features observed in these patients, including most of the facial and hand features, muscular hypotonia, cardiopathy of the Fallot tetralogy type, and part of the mental retardation.

Published
1992

20. Down syndrome critical region around D21S55 on proximal 21q22.3

Author

Rahmani, Zohra, primary, Blouin, Jean-Louis, additional, Créau-Goldberg, Nicole, additional, Watkins, Paul C., additional, Mattei, Jean-François, additional, Poissonnier, Marc, additional, Prieur, Marguerite, additional, Chettouh, Zoubida, additional, Nicole, Annie, additional, Aurias, Alain, additional, Sinet, Pierre-Marie, additional, and Delabar, Jean-Maurice, additional

Published
2005
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24. Transcriptional Map of the 2.5-Mb CBR–ERG Region of Chromosome 21 Involved in Down Syndrome

Author

Dahmane, Nadia, primary, Ghezala, Ghania Ait, additional, Gosset, Philippe, additional, Chamoun, Zeina, additional, Dufresne-Zacharia, Marie-Clotilde, additional, Lopes, Carmela, additional, Rabatel, Natacha, additional, Gassanova-Maugenre, Svetlana, additional, Chettouh, Zoubida, additional, Abramowski, Vincent, additional, Fayet, Elizabeth, additional, Yaspo, Marie-Laure, additional, Korn, Bernhard, additional, Blouin, Jean-Louis, additional, Lehrach, Hans, additional, Poutska, Annemarie, additional, Antonarakis, Stylianos E., additional, Sinet, Pierre-Marie, additional, Créau, Nicole, additional, and Delabar, Jean-Maurice, additional

Published
1998
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28. Report of the fourth international workshop on human chromosome 21

Author

Delabar, Jean-Maurice, primary, Créau, Nicole, additional, Sinet, Pierre-Marie, additional, Ritter, Otto, additional, Antonarakis, Stylianos E., additional, Burmeister, Margit, additional, Chakravarti, Aravinda, additional, Nizetic, Dean, additional, Ohki, Misao, additional, Patterson, David, additional, Petersen, Michael B., additional, Reeves, Roger H., additional, and Van Broeckhoven, Christine, additional

Published
1993
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30. Molecular analysis of 12 patients with the t(8;2l) translocation and M2 acute myelogenous leukemia

Author

Yaspo, Marie-Laure, primary, Theophile, Didier, additional, Aurias, Alain, additional, Créte, Nathalie, additional, Créau-Goldberg, Nicole, additional, Bastard, Christian, additional, Suberville, Anne-Marie, additional, Valensi, Françoise, additional, Viguier, Franck, additional, Berger, Roland, additional, Sinet, Pierre-Marie, additional, and Delabar, Jean-Maurice, additional

Published
1992
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34. Rapid fluorescence in situ hybridization on interphasic nuclei to discriminate between homozygous and heterozygous transgenic mice.

Author

Paris, Daniel, Toyama, Kiyoko, Mégarbane, André, Casanova, Myriam, Sinet, Pierre-Marie, and London, Jacqueline

Abstract

Homozygous and heterozygous transgenic mice of the Tg152 line overexpressing the human copper/zinc superoxide dismutase (hSOD-1) were rapidly differentiated by fluorescence in situ hybridization (FISH) using intérphase lymphocyte nuclei. We have devised a simple and fast method for preparing interphase nuclei with very small quantities of whole mouse blood, avoiding several steps of the classical FISH technique. Lymphocyte separation and cell culture were not required. This technique provides an excellent tool for the unambiguous detection of homozygous and heterozygous transgenic mice in a litter. It can be used to check young animals since 2 μl of whole blood is sufficient. We also show that in this transgenic line numerous copies of the hSOD-1 transgene are. integrated at a single autosomal locus, in tandem head-to-tail organization [ABSTRACT FROM AUTHOR]

Published
1996
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35. Increased SOD1 enzymatic activity and gene modifications in orangutans: evolutionary implications.

Author

Grouchy, Jean, Nicole, Annie, Cochet, Chantal, Sinet, Pierre-Marie, and Créau-Goldberg, Nicole

Abstract

Superoxide dismutase CuZn (SOD1) enzymatic activity was measured in five orangutans ( Pongo pygmaeus, PPY) and compared to that of man, chimpanzee, and gorilla. It was found to be increased by a factor of two in one orangutan (Ralfina) and by a factor of 1.5 in the four others. In situ hybridization of the SOD1 cDNA human probe showed a heterozygous intrachromosomal rearrangement of pair PPY XXI, possibly an insertion, in Ralfina. Southern blotting showed that the SOD1 gene is modified in the three orangutans that were investigated and that a further modification of the 5′-end of the gene had occurred in Ralfina. The evolutionary implications of these observations are discussed. [ABSTRACT FROM AUTHOR]

Published
1991
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36. Low Plasma Selenium in Down's Syndrome (Trisomy 21)

Author

Sinet, Pierre Marie, Neve, Jean, Nicole, Annie, Molle, Léopold, Sinet, Pierre Marie, Neve, Jean, Nicole, Annie, and Molle, Léopold

Abstract

SCOPUS: ar.j, FLWNA, info:eu-repo/semantics/published

Published
1984

38. Trisomie 21 et superoxyde dismutase-1 (IPO-A)

Author

Sinet, Pierre-Marie, primary, Couturier, J., additional, Dutrillaux, B., additional, Poissonnier, M., additional, Raoul, Odile, additional, Rethoré, Marie-Odile, additional, Allard, D., additional, Lejeune, J., additional, and Jerome, H., additional

Published
1976
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42. Molecular and cellular pathways towards and away from Alzheimer’s disease

Author

Mattson, Mark P., Christen, Yves, editor, Agid, Yves, editor, Aguayo, Albert, editor, Anderton, Brian H., editor, Bartus, Raymond T., editor, Björklund, Anders, editor, Bloom, Floyd, editor, Boller, François, editor, Cotman, Carl, editor, Davies, Peter, editor, Delacourte, Andre, editor, Ferris, Steven, editor, Foncin, Jean-François, editor, Forette, Françoise, editor, Gage, Fred, editor, Goldgaber, Dmitry, editor, Hardy, John, editor, Hauw, Jean-Jacques, editor, Kordon, Claude, editor, Kosik, Kenneth S., editor, Mallet, Jacques, editor, Masters, Colin L., editor, Rapoport, Stanley I., editor, Reisberg, Barry, editor, Roses, Allen, editor, Selkoe, Dennis J., editor, Shelanski, Michael L., editor, Sinet, Pierre-Marie, editor, St. George-Hyslop, Peter, editor, Terry, Robert, editor, Zarifian, Edouard, editor, Jucker, Mathias, editor, Beyreuther, Konrad, editor, Haass, Christian, editor, and Nitsch, Roger M., editor

Published
2006
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43. Paquid: an integrated, multidisciplinary, population-based approach to normal and pathological cerebral aging

Author

Dartigues, Jean François, Christen, Yves, editor, Agid, Yves, editor, Aguayo, Albert, editor, Anderton, Brian H., editor, Bartus, Raymond T., editor, Björklund, Anders, editor, Bloom, Floyd, editor, Boller, François, editor, Cotman, Carl, editor, Davies, Peter, editor, Delacourte, Andre, editor, Ferris, Steven, editor, Foncin, Jean-François, editor, Forette, Françoise, editor, Gage, Fred, editor, Goldgaber, Dmitry, editor, Hardy, John, editor, Hauw, Jean-Jacques, editor, Kordon, Claude, editor, Kosik, Kenneth S., editor, Mallet, Jacques, editor, Masters, Colin L., editor, Rapoport, Stanley I., editor, Reisberg, Barry, editor, Roses, Allen, editor, Selkoe, Dennis J., editor, Shelanski, Michael L., editor, Sinet, Pierre-Marie, editor, St. George-Hyslop, Peter, editor, Terry, Robert, editor, Zarifian, Edouard, editor, Jucker, Mathias, editor, Beyreuther, Konrad, editor, Haass, Christian, editor, and Nitsch, Roger M., editor

Published
2006
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44. The Search for structure of tau and paired helical filaments

Author

Mandelkow, E., von Bergen, M., Marx, A., Biernat, J., Mandelkow, E. -M., Christen, Yves, editor, Agid, Yves, editor, Aguayo, Albert, editor, Anderton, Brian H., editor, Bartus, Raymond T., editor, Björklund, Anders, editor, Bloom, Floyd, editor, Boller, François, editor, Cotman, Carl, editor, Davies, Peter, editor, Delacourte, Andre, editor, Ferris, Steven, editor, Foncin, Jean-François, editor, Forette, Françoise, editor, Gage, Fred, editor, Goldgaber, Dmitry, editor, Hardy, John, editor, Hauw, Jean-Jacques, editor, Kordon, Claude, editor, Kosik, Kenneth S., editor, Mallet, Jacques, editor, Masters, Colin L., editor, Rapoport, Stanley I., editor, Reisberg, Barry, editor, Roses, Allen, editor, Selkoe, Dennis J., editor, Shelanski, Michael L., editor, Sinet, Pierre-Marie, editor, St. George-Hyslop, Peter, editor, Terry, Robert, editor, Zarifian, Edouard, editor, Jucker, Mathias, editor, Beyreuther, Konrad, editor, Haass, Christian, editor, and Nitsch, Roger M., editor

Published
2006
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45. Ubiquitin is a component of paired helical filaments in Alzheimer’s disease

Author

Ihara, Yasuo, Christen, Yves, editor, Agid, Yves, editor, Aguayo, Albert, editor, Anderton, Brian H., editor, Bartus, Raymond T., editor, Björklund, Anders, editor, Bloom, Floyd, editor, Boller, François, editor, Cotman, Carl, editor, Davies, Peter, editor, Delacourte, Andre, editor, Ferris, Steven, editor, Foncin, Jean-François, editor, Forette, Françoise, editor, Gage, Fred, editor, Goldgaber, Dmitry, editor, Hardy, John, editor, Hauw, Jean-Jacques, editor, Kordon, Claude, editor, Kosik, Kenneth S., editor, Mallet, Jacques, editor, Masters, Colin L., editor, Rapoport, Stanley I., editor, Reisberg, Barry, editor, Roses, Allen, editor, Selkoe, Dennis J., editor, Shelanski, Michael L., editor, Sinet, Pierre-Marie, editor, St. George-Hyslop, Peter, editor, Terry, Robert, editor, Zarifian, Edouard, editor, Jucker, Mathias, editor, Beyreuther, Konrad, editor, Haass, Christian, editor, and Nitsch, Roger M., editor

Published
2006
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46. Influence of tau on neuronal traffic mechanisms

Author

Mandelkow, E. -M., Thies, E., Biernat, J., Mandelkow, E., Christen, Yves, editor, Agid, Yves, editor, Aguayo, Albert, editor, Anderton, Brian H., editor, Bartus, Raymond T., editor, Björklund, Anders, editor, Bloom, Floyd, editor, Boller, François, editor, Cotman, Carl, editor, Davies, Peter, editor, Delacourte, Andre, editor, Ferris, Steven, editor, Foncin, Jean-François, editor, Forette, Françoise, editor, Gage, Fred, editor, Goldgaber, Dmitry, editor, Hardy, John, editor, Hauw, Jean-Jacques, editor, Kordon, Claude, editor, Kosik, Kenneth S., editor, Mallet, Jacques, editor, Masters, Colin L., editor, Rapoport, Stanley I., editor, Reisberg, Barry, editor, Roses, Allen, editor, Selkoe, Dennis J., editor, Shelanski, Michael L., editor, Sinet, Pierre-Marie, editor, St. George-Hyslop, Peter, editor, Terry, Robert, editor, Zarifian, Edouard, editor, Jucker, Mathias, editor, Beyreuther, Konrad, editor, Haass, Christian, editor, and Nitsch, Roger M., editor

Published
2006
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47. The Alzheimer tangle — 100 years on.

Author

Goedert, Michel, Spillantini, Maria Grazia, Ghetti, Bernardino, Crowther, R. Anthony, Klug, Aaron, Christen, Yves, editor, Agid, Yves, editor, Aguayo, Albert, editor, Anderton, Brian H., editor, Bartus, Raymond T., editor, Björklund, Anders, editor, Bloom, Floyd, editor, Boller, François, editor, Cotman, Carl, editor, Davies, Peter, editor, Delacourte, Andre, editor, Ferris, Steven, editor, Foncin, Jean-François, editor, Forette, Françoise, editor, Gage, Fred, editor, Goldgaber, Dmitry, editor, Hardy, John, editor, Hauw, Jean-Jacques, editor, Kordon, Claude, editor, Kosik, Kenneth S., editor, Mallet, Jacques, editor, Masters, Colin L., editor, Rapoport, Stanley I., editor, Reisberg, Barry, editor, Roses, Allen, editor, Selkoe, Dennis J., editor, Shelanski, Michael L., editor, Sinet, Pierre-Marie, editor, St. George-Hyslop, Peter, editor, Terry, Robert, editor, Zarifian, Edouard, editor, Jucker, Mathias, editor, Beyreuther, Konrad, editor, Haass, Christian, editor, and Nitsch, Roger M., editor

Published
2006
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48. Bulk isolation of neurofibrillary tangles and discoveries of tau and its abnormal hyperphosphorylation

Author

Iqbal, Khalid, Grundke-Iqbal, Inge, Christen, Yves, editor, Agid, Yves, editor, Aguayo, Albert, editor, Anderton, Brian H., editor, Bartus, Raymond T., editor, Björklund, Anders, editor, Bloom, Floyd, editor, Boller, François, editor, Cotman, Carl, editor, Davies, Peter, editor, Delacourte, Andre, editor, Ferris, Steven, editor, Foncin, Jean-François, editor, Forette, Françoise, editor, Gage, Fred, editor, Goldgaber, Dmitry, editor, Hardy, John, editor, Hauw, Jean-Jacques, editor, Kordon, Claude, editor, Kosik, Kenneth S., editor, Mallet, Jacques, editor, Masters, Colin L., editor, Rapoport, Stanley I., editor, Reisberg, Barry, editor, Roses, Allen, editor, Selkoe, Dennis J., editor, Shelanski, Michael L., editor, Sinet, Pierre-Marie, editor, St. George-Hyslop, Peter, editor, Terry, Robert, editor, Zarifian, Edouard, editor, Jucker, Mathias, editor, Beyreuther, Konrad, editor, Haass, Christian, editor, and Nitsch, Roger M., editor

Published
2006
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49. Vision for the future : Alzheimer’s Disease: Pathogenesis, Models and Experimental Therapeutics

Author

Price, Donald L., Li, Tong, Laird, Fiona M., Farah, Mohamed, Savonenko, Alena V., Lee, Michael, Troncoso, Juan, Wong, Philip C., Christen, Yves, editor, Agid, Yves, editor, Aguayo, Albert, editor, Anderton, Brian H., editor, Bartus, Raymond T., editor, Björklund, Anders, editor, Bloom, Floyd, editor, Boller, François, editor, Cotman, Carl, editor, Davies, Peter, editor, Delacourte, Andre, editor, Ferris, Steven, editor, Foncin, Jean-François, editor, Forette, Françoise, editor, Gage, Fred, editor, Goldgaber, Dmitry, editor, Hardy, John, editor, Hauw, Jean-Jacques, editor, Kordon, Claude, editor, Kosik, Kenneth S., editor, Mallet, Jacques, editor, Masters, Colin L., editor, Rapoport, Stanley I., editor, Reisberg, Barry, editor, Roses, Allen, editor, Selkoe, Dennis J., editor, Shelanski, Michael L., editor, Sinet, Pierre-Marie, editor, St. George-Hyslop, Peter, editor, Terry, Robert, editor, Zarifian, Edouard, editor, Jucker, Mathias, editor, Beyreuther, Konrad, editor, Haass, Christian, editor, and Nitsch, Roger M., editor

Published
2006
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50. Apolipoprotein E4: From synaptic remodeling to genetic risk factor in both familial and sporadic Alzheimer’s disease

Author

Poirier, Judes, Christen, Yves, editor, Agid, Yves, editor, Aguayo, Albert, editor, Anderton, Brian H., editor, Bartus, Raymond T., editor, Björklund, Anders, editor, Bloom, Floyd, editor, Boller, François, editor, Cotman, Carl, editor, Davies, Peter, editor, Delacourte, Andre, editor, Ferris, Steven, editor, Foncin, Jean-François, editor, Forette, Françoise, editor, Gage, Fred, editor, Goldgaber, Dmitry, editor, Hardy, John, editor, Hauw, Jean-Jacques, editor, Kordon, Claude, editor, Kosik, Kenneth S., editor, Mallet, Jacques, editor, Masters, Colin L., editor, Rapoport, Stanley I., editor, Reisberg, Barry, editor, Roses, Allen, editor, Selkoe, Dennis J., editor, Shelanski, Michael L., editor, Sinet, Pierre-Marie, editor, St. George-Hyslop, Peter, editor, Terry, Robert, editor, Zarifian, Edouard, editor, Jucker, Mathias, editor, Beyreuther, Konrad, editor, Haass, Christian, editor, and Nitsch, Roger M., editor

Published
2006
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