Search Results - "Dugast, C."

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene by Bonnet, C, Krieger, S, Vezain, M, Rousselin, A, Tournier, I, Martins, A, Berthet, P, Chevrier, A, Dugast, C, Layet, V, Rossi, A, Lidereau, R, Frébourg, T, Hardouin, A, Tosi, M

“…Many unclassified variants (UV) of BRCA1 or BRCA2 may have an effect on pre-mRNA splicing. Patient blood samples suitable for RNA extraction are not always…”
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Arthrite septique interapophysaire postérieure by Dugast, C., Vanhecke, C.

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Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests by Pujol, P., Lyonnet, D. Stoppa, Frebourg, T., Blin, J., Picot, M. C., Lasset, C., Dugast, C., Berthet, P., de Paillerets, B. Bressac, Sobol, H., Grandjouan, S., Soubrier, F., Buecher, B., Guimbaud, R., Lidereau, R., Jonveaux, P., Houdayer, C., Giraud, S., Olschwang, S., Nogue, E., Galibert, V., Bara, C., Nowak, F., Khayat, D., Nogues, C.

“…Based on nationwide data from the French national cancer institute (INCa), we analyzed the evolution of cancer genetics consultations and testing over time,…”
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Familial hematological malignancies: ASXL1 gene investigation by Hamadou, W. S., Abed, R. E., Besbes, S., Bourdon, V., Fabre, A., Youssef, Y. B., Laatiri, M. A., Eisinger, F., Mari, V., Gesta, P., Dreyfus, H., Bonadona, V., Dugast, C., Zattara, H., Faivre, L., Jemni, S. Y., Noguchi, T., Khélif, A., Sobol, H., Soua, Z.

“…Purpose Familial aggregation among patients with several hematological malignancies has been revealed. This emphasizes the importance of genetic factors. Only…”
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8046 POSTER Clinical Characteristics of Patients With Sporadic or BRCA Mutated Ovarian Cancer by Lheureux, S, Ruterana, L, Hardouin, A, Dugast, C, Tennevet, I, Kerbrat, P, Leveque, J, Joly, F, Rodrigues, M

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The contribution of germline rearrangements to the spectrum of BRCA2 mutations by Casilli, F, Tournier, I, Sinilnikova, O M, Coulet, F, Soubrier, F, Houdayer, C, Hardouin, A, Berthet, P, Sobol, H, Bourdon, V, Muller, D, Fricker, J P, Capoulade-Metay, C, Chompret, A, Nogues, C, Mazoyer, S, Chappuis, P, Maillet, P, Philippe, C, Lortholary, A, Gesta, P, Bézieau, S, Toulas, C, Gladieff, L, Maugard, C M, Provencher, D M, Dugast, C, Delvincourt, C, Nguyen, T D, Faivre, L, Bonadona, V, Frébourg, T, Lidereau, R, Stoppa-Lyonnet, D, Tosi, M

“…Background: Few germline BRCA2 rearrangements have been described compared with the large number of germline rearrangements reported in the BRCA1 gene…”
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Continuous in vivo monitoring of evoked dopamine release in the rat nucleus accumbens by amperometry by Dugast, C, Suaud-Chagny, M F, Gonon, F

“…The release of dopamine in the nucleus accumbens of anaesthetized rats was evoked either by electrical stimulation of the mesolimbic dopaminergic pathway or by…”
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In vivo monitoring of evoked noradrenaline release in the rat anteroventral thalamic nucleus by continuous amperometry by Dugast, C., Cespuglio, R., Suaud‐Chagny, M. F.

“…Continuous amperometry coupled with untreated carbon‐fibre electrodes was used in anaesthetized rats to measure the noradrenaline release evoked in the…”
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Molecular study of CEPBA in familial hematological malignancies by Abed, R. El, Bourdon, V., Huiart, L., Eisinger, F., Khelif, A., Frenay, M., Gesta, P., Demange, L., Dreyfus, H., Bonadona, V., Dugast, C., Zattara, H., Faivre, L., Noguchi, T., Sauvan, R., Soua, Z., Sobol, H.

“…Familial aggregation in patients with several haematological malignancies has been described, but the genetic basis for this familial clustering is not known…”
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Uptake of dopamine released by impulse flow in the rat mesolimbic and striatal systems in vivo by Suaud-Chagny, M F, Dugast, C, Chergui, K, Msghina, M, Gonon, F

“…The release of dopamine in the striatum, nucleus accumbens, and olfactory tubercle of anesthetized rats was evoked by electrical stimulation of the mesolimbic…”
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707 Methylation Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA): an efficient assay for hMLH1 methylation detection in colorectal cancer by Theoleyre, S, Blayau, M, Dugast, C, Rioux-Leclercq, N, Denis, M

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Generation of multinucleated giant cells by culture of monocyte-derived macrophages with IL-4 by Dugast, Catherine, Gaudin, Annette, Toujas, Louis

“…Culturing human monocytes in the presence of granulocyte‐macrophage colony‐stimulating factor (GM‐CSF) and interleukin‐4 (IL‐4) has been reported to provoke…”
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Sebaceous tumors of the eyelids in a patient with Muir-Torre syndrome by Bertholom, J L, Guyomard, J L, Stock, N, Dugast, C, Martinel, C, Chatel, M A, Charlin, J F

“…Muir-Torre syndrome is an autosomal dominant hereditary condition predisposing to cancer. It is characterized by cutaneous tumors (such as sebaceous adenomas,…”
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Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers by Mavaddat, Nasim, Antoniou, Antonis C, Mooij, Thea M, Hooning, Maartje J, Heemskerk-Gerritsen, Bernadette A, Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J E, Ausems, Margreet G E M, Koppert, Linetta B, Hopper, John L, John, Esther M, Chung, Wendy K, Andrulis, Irene L, Daly, Mary B, Buys, Saundra S, Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F, Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E, Arver, Brita, Olsson, Håkan, Schmutzler, Rita K, Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L, Goldgar, David E, Rookus, Matti A, Andrieu, Nadine, Easton, Douglas F

“…The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have…”
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Molecular study of CEBPA in familial hematological malignancies by El Abed, R, Bourdon, V, Huiart, L, Eisinger, F, Khelif, A, Frenay, M, Gesta, P, Demange, L, Dreyfus, H, Bonadona, V, Dugast, C, Zattara, H, Faivre, L, Noguchi, T, Sauvan, R, Soua, Z, Sobol, H

“…Familial aggregation in patients with several haematological malignancies has been described, but the genetic basis for this familial clustering is not known…”
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Regulation of substantia nigra pars reticulata neuronal activity by excitatory amino acids by Schmitt, P, Souliere, F, Dugast, C, Chouvet, G

“…Midbrain non-dopaminergic neurons of the substantia nigra pars reticulata play an important role in the basal ganglia circuitry. The regulation of their…”
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A new mutation in the BRCA1 gene (g.5196-5201del6, 5195-5202ins12), a 6 bp deletion replaced by the duplication of a 12 bp adjacent upstream intronic sequence by Hardouin, Agnès, Baumann, Jean-Jacques, Roussel, Gilbert, Quillien, Véronique, Dugast, Catherine, Berthet, Pascaline

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Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families by Bougeard, G, Sesboüé, R, Baert-Desurmont, S, Vasseur, S, Martin, C, Tinat, J, Brugières, L, Chompret, A, de Paillerets, B Bressac, Stoppa-Lyonnet, D, Bonaïti-Pellié, C, Frébourg, T

“…We have performed an extensive analysis of TP53 in 474 French families suggestive of Li-Fraumeni syndrome (LFS), including 232 families fulfilling the Chompret…”
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Multilingual large vocabulary speech recognition: the European SQALE project by Young, S.J., Adda-Dekker, M., Aubert, X., Dugast, C., Gauvain, J.L., Kershaw, D.J., Lamel, L., Leeuwen, D.A., Pye, D., Robinson, A.J., Steeneken, H.J.M., Woodland, P.C.

“…This paper describes the S qaleproject in which the ARPA large vocabulary evaluation paradigm was adapted to meet the needs of European multilingual speech…”
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A survey of factors determining the utilization of autologous blood donation in hip replacement surgery by Dugast, C, Bernard, J M

“…A prospective survey was conducted among anaesthesiologists to determine their criteria for excluding a patient from autologous blood donation prior to total…”
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