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7. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

Author

El Chehadeh, S., Bonnet, C., Callier, P., Béri, M., Dupré, T., Payet, M., Ragon, C., Mosca-Boidron, A. L., Marle, N., Mugneret, F., Masurel-Paulet, A., Thevenon, J., Seta, N., Duplomb, L., Jonveaux, P., Faivre, L., Thauvin-Robinet, C., Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor

Published
2015
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12. Permeation and trapping of hydrogen in Eurofer97

Author

Montupet-Leblond, F., primary, Corso, L., additional, Payet, M., additional, Delaporte-Mathurin, R., additional, Bernard, E., additional, Charles, Y., additional, Mougenot, J., additional, Vartanian, S., additional, Hodille, E.A., additional, and Grisolia, C., additional

Published
2021
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17. Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

Author

El Chehadeh, S., primary, Bonnet, C., additional, Callier, P., additional, Béri, M., additional, Dupré, T., additional, Payet, M., additional, Ragon, C., additional, Mosca-Boidron, A. L., additional, Marle, N., additional, Mugneret, F., additional, Masurel-Paulet, A., additional, Thevenon, J., additional, Seta, N., additional, Duplomb, L., additional, Jonveaux, P., additional, Faivre, L., additional, and Thauvin-Robinet, C., additional

Published
2014
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18. Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

Author

Marle, N., Martinet, D., Aboura, A., Joly-Helas, G., Andrieux, J., Flori, E., Puechberty, J., Vialard, F., Sanlaville, D., Fert Ferrer, S., Bourrouillou, G., Tabet, A. C., Quilichini, B., Simon-Bouy, B., Bazin, A., Becker, M., Stora, H., Amblard, S., Doco-Fenzy, M., Molina Gomes, D., Girard-Lemaire, F., Cordier, M. P., Satre, V., Schneider, A., Lemeur, N., Chambon, P., Jacquemont, S., Fellmann, F., Vigouroux-Castera, A., Molignier, R., Delaye, A., Pipiras, E., Liquier, A., Rousseau, T., Mosca, A. L., Kremer, V., Payet, M., Rangon, C., Mugneret, F., Aho, S., Faivre, L., and Callier, P.

Published
2014
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19. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

Author

Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, M A, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Y, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, P S, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, M C, Journel, H, Colin, E, Van Kien, Khau P, Baumann, C, Leheup, B, Coignard, Martin- D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Boidron, Mosca- AL, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, and Faivre, L

Published
2013
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25. Production d'aérosols réprésentatifs d'opérations de démantélement pour des études de toxicologie

Author

Payet, M, Gensdarmes, Francois, Malard, V, Grisolia, C, Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de Recherche sur la Fusion par confinement Magnétique (IRFM), Laboratoire de physique et de métrologie des aérosols (IRSN/PSN-RES/SCA/LPMA), Service du Confinement et de l'Aérodispersion des polluants (IRSN/PSN-RES/SCA), Institut de Radioprotection et de Sûreté Nucléaire (IRSN)-Institut de Radioprotection et de Sûreté Nucléaire (IRSN), ASFERA, and European Project: 754586,TRANSAT

Subjects
aérosol, [PHYS]Physics [physics], démantèlement, tritium
Abstract

International audience; This work describes a method to produce and to characterise aerosols from cutting operations that represent decommissioning process within nuclear facility containing tritium. The result obtained makes it possible to calculate the airborne release fraction and aerosol size distribution in the case of 316 stainless steel.; Ce travail propose une méthode pour produire et caractériser un aérosol représentatif d'une opération de découpe lors du démantèlement d'une installation nucléaire contaminée en tritium, en vue de définir des simulants afin de réaliser des études de toxicologie. Les résultats obtenus ont permis de déterminer des fractions mises en suspension et la granulométrie de l'aérosol, pour la découpe de tube en acier inoxydable 316.

Published
2019
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30. Mathematical Modeling for NoC resources Estimation on FPGA

Author

Fresse, V., Combes, C., Payet, M., Rousseau, Frédéric, Laboratoire Hubert Curien [Saint Etienne] (LHC), Université Jean Monnet [Saint-Étienne] (UJM)-Centre National de la Recherche Scientifique (CNRS)-Institut d'Optique Graduate School (IOGS), Centre interuniversitaire de recherche et d'ingenierie des matériaux (CIRIMAT), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées, Techniques of Informatics and Microelectronics for integrated systems Architecture (TIMA), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Université Fédérale Toulouse Midi-Pyrénées-Institut de Chimie du CNRS (INC), Techniques de l'Informatique et de la Microélectronique pour l'Architecture des systèmes intégrés (TIMA), and Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])

Subjects
PACS 85.42, [SPI.NANO]Engineering Sciences [physics]/Micro and nanotechnologies/Microelectronics
Abstract

International audience; NoCs ( Network - on - Chip ) have emerged as efficient scalable and low power communication structures for SoC (System - On - Chip). Two main challenges are pointed out when prototyping a SoC on a reconfigurable chip such as FPGA ( Field P rogrammable Gate A rray). The first challenge is to tune a NoC according to the application requirements by exploring all design solutions . The second challenge is to dimension the FPGA resources regarding the previously s elected appropriate solution. Usually, dimensioning of FPGA resources is done by several runs of automatic synthesis processes to evaluate if the number of resources fit s to the selected FPGA device. Finding the most appropriate solution and FP GA dimensioning are time consuming and the design space exploration is not fully done in order to decrease the exploration tim e. A more appropriate solution would be analytic model s of the NoC on a FPGA device . Mathematical modelling consists in identifyin g links between the NoC parameters and the FPGA resources using a database and in extracting relations between them. In this paper, we present a methodological framework to estimate the number of resources required for a given communication architecture a nd the task graph of the application . The framework contains 4 steps : the design or the selection of the NoC, the data collection, the data analysis from which a model is deduced . The database obtained in the data collection step contains the synthesized r esults of each NoC configuration. Two NoCs , with a mesh topology and different characteristics, are used to provide two databases. The methodological framework provides t he most appropriate models that are identified using predictive modelling . The evaluation of each model shows that the relative error is less than 5% in most cases. It is therefore possible to tune the most appropriate NoC and to estimate the required resources in a short exploration time without the synthesis steps

Published
2016
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33. Extraction du parallélisme à l'exécution pour la syntghèse d'applications basées sur un NoC

Author

Payet, M., Fresse, V., Rousseau, Frédéric, Rémy, P., Techniques de l'Informatique et de la Microélectronique pour l'Architecture des systèmes intégrés (TIMA), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS), Laboratoire Hubert Curien [Saint Etienne] (LHC), Institut d'Optique Graduate School (IOGS)-Université Jean Monnet [Saint-Étienne] (UJM)-Centre National de la Recherche Scientifique (CNRS), Techniques of Informatics and Microelectronics for integrated systems Architecture (TIMA), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), and Université Jean Monnet [Saint-Étienne] (UJM)-Centre National de la Recherche Scientifique (CNRS)-Institut d'Optique Graduate School (IOGS)

Subjects
PACS 8542, [SPI.NANO]Engineering Sciences [physics]/Micro and nanotechnologies/Microelectronics, ComputingMilieux_MISCELLANEOUS
Abstract

National audience

Published
2015

38. Structure and function of a mitochondrial late embryogenesis abundant (LEA) protein are revealed by desiccation

Author

Tolleter, D., Jaquinod, M., Mangavel, C., Passirani, C., Saulnier, P., Manon, S., Teyssier, E., Payet, M., Avelange-Macherel, Marie-Hélène, Macherel, D., Grellety, Marie-Lise, Institut de biochimie et génétique cellulaires (IBGC), and Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS)

Subjects
[SDV.BC]Life Sciences [q-bio]/Cellular Biology, [SDV.BC] Life Sciences [q-bio]/Cellular Biology, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2007

39. Gastric Cancer in Lima

Author

Pilco C., Paul, Payet M., Eduardo, and Cáceres G., Eduardo

Subjects
Cáncer gástrico, epidemiología, Cáncer gástrico, Gastric cáncer, epidemiology, epidemiología
Abstract

El Cáncer gástrico continúa siendo una de las neoplasias malignas más comunes en el mundo. A pesar de la disminución en la incidencia de esta enfermedad en países desarrollados; Europa del Este, Asia y América Latina muestran la incidencia más alta representaron el 8,6% de nuevos cánceres en el año 2002. En Lima ha aumentado desde el año 1990 hasta 1997, llegando a tener 24,3/100000 en hombres, y en mujeres 17,6/100000, en el último periodo estudiado, considerándose área de alto riesgo. La mortalidad continúa siendo la primera causa de muerte para ambos sexos, en hombres 19,3/100000 y en mujeres 14,2/100000. La incidencia guarda una relación directamente proporcional con el lugar de origen dentro de Lima Metropolitana, una ciudad de cerca de 8 millones de habitantes, indicando que los distritos que muestran una mayor incidencia son Puente Piedra y Lince seguidos de Villa El Salvador, El Agustino, Breña, Rimac, entre otros, que son distritos de un nivel socioeconómico medio bajo; y los que muestran menor incidencia son aquellos que tienen un nivel socioeconómico alto como San Isidro y Miraflores entre otros. Gastric cancer continues to be one of the most common malignant neoplasias in the world. Despite the decreasing incidence of this disease in developed countries, Eastern Europe and Latin America show the highest incidences. It accounted for 8.6% of all new cases of cancer in 2002. In Peru it has increased between 1990 and 1997 amounting to 24.3/100000 in men and 17.6/100000 in women, during the last period studied, thus it is considered a high risk area. Mortality: it is still the leading cause of death for both sexes, in men it is 19.3/100000 and in women 14.2/100000. Incidence is directly proportional to the place of origin in Metropolitan Lima, a city of almost 8 million inhabitants, and the districts with the highest incidences are Puente Piedra and Lince followed by Villa El Salvador, El Augustino, Breña and Rimac among others. These are districts with medium-low socioeconomic levels, whereas the lowest incidences are found in districts with high socioeconomic levels, such as San Isidro and Miraflores, among others.

Published
2006

41. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

Author

UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, M A, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Yves, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, P S, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, M C, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin-Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca-Boidron, A L, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, Faivre, L, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, Callier, P, Aral, B, Hanna, N, Lambert, S, Dindy, H, Ragon, C, Payet, M, Collod-Beroud, G, Carmignac, V, Delrue, M A, Goizet, C, Philip, N, Busa, T, Dulac, Y, Missotte, I, Sznajer, Yves, Toutain, A, Francannet, C, Megarbane, A, Julia, S, Edouard, T, Sarda, P, Amiel, J, Lyonnet, S, Cormier-Daire, V, Gilbert, B, Jacquette, A, Heron, D, Collignon, P, Lacombe, D, Morice-Picard, F, Jouk, P S, Cusin, V, Willems, M, Sarrazin, E, Amarof, K, Coubes, C, Addor, M C, Journel, H, Colin, E, Khau Van Kien, P, Baumann, C, Leheup, B, Martin-Coignard, D, Doco-Fenzy, M, Goldenberg, A, Plessis, G, Thevenon, J, Pasquier, L, Odent, S, Vabres, P, Huet, F, Marle, N, Mosca-Boidron, A L, Mugneret, F, Gauthier, S, Binquet, C, Thauvin-Robinet, C, Jondeau, G, Boileau, C, and Faivre, L

Abstract

The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males and 29 females) with a MH and ID were recruited. Custom-designed 244K array-CGH (Agilent®; Agilent Technologies Inc., Santa Clara, CA) and MED12, ZDHHC9, UPF3B, FBN1, TGFBR1 and TGFBR2 sequencing analyses were performed. Eighty patients could be classified as isolated MH and ID: 12 chromosomal imbalances, 1 FBN1 mutation and 1 possibly pathogenic MED12 mutation were found (17%). Twenty patients could be classified as ID with other extra-skeletal features of the Marfan syndrome (MFS) spectrum: 4 pathogenic FBN1 mutations and 4 chromosomal imbalances were found (2 patients with both FBN1 mutation and chromosomal rearrangement) (29%). These results suggest either that there are more loci with genes yet to be discovered or that MH can also be a relatively non-specific feature of patients with ID. The search for aortic complications is mandatory even if MH is associated with ID since FBN1 mutations or rearrangements were found in some patients. The excess of males is in favour of the involvement of other X-linked genes. Although it was impossible to make a diagnosis in 80% of patients, these results will improve genetic counselling in families.

Published
2013

43. Molecular characterization of 39 de novo sSMC : contribution to prognosis and genetic counselling, a prospective study

Author

Marle, N., primary, Martinet, D., additional, Aboura, A., additional, Joly‐Helas, G., additional, Andrieux, J., additional, Flori, E., additional, Puechberty, J., additional, Vialard, F., additional, Sanlaville, D., additional, Fert Ferrer, S., additional, Bourrouillou, G., additional, Tabet, A.C., additional, Quilichini, B., additional, Simon‐Bouy, B., additional, Bazin, A., additional, Becker, M., additional, Stora, H., additional, Amblard, S., additional, Doco‐Fenzy, M., additional, Molina Gomes, D., additional, Girard‐Lemaire, F., additional, Cordier, M.P., additional, Satre, V., additional, Schneider, A., additional, Lemeur, N., additional, Chambon, P., additional, Jacquemont, S., additional, Fellmann, F., additional, Vigouroux‐Castera, A., additional, Molignier, R., additional, Delaye, A., additional, Pipiras, E., additional, Liquier, A., additional, Rousseau, T., additional, Mosca, A.L., additional, Kremer, V., additional, Payet, M., additional, Rangon, C., additional, Mugneret, F., additional, Aho, S., additional, Faivre, L., additional, and Callier, P., additional

Published
2013
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47. What can we learn from old microdeletion syndromes using array-CGH screening?

Author

Mosca-Boidron, A L, primary, Bouquillon, S, additional, Faivre, L, additional, Callier, P, additional, Andrieux, J, additional, Marle, N, additional, Bonnet, C, additional, Vincent-Delorme, C, additional, Berri, M, additional, Plessis, G, additional, Manouvrier-Hanu, S, additional, Dieux-Coeslier, A, additional, Thauvin-Robinet, C, additional, Pipiras, E, additional, Delahaye, A, additional, Payet, M, additional, Ragon, C, additional, Masurel-Paulet, A, additional, Questiaux, E, additional, Benzacken, B, additional, Jonveaux, P, additional, Mugneret, F, additional, and Holder-Espinasse, M, additional

Published
2011
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48. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

Author

El Chehadeh-Djebbar, S., primary, Faivre, L., additional, Moncla, A., additional, Aral, B., additional, Missirian, C., additional, Popovici, C., additional, Rump, P., additional, Van Essen, A., additional, Frances, A.-M., additional, Gigot, N., additional, Cusin, V., additional, Masurel-Paulet, A., additional, Gueneau, L., additional, Payet, M., additional, Ragon, C., additional, Marle, N., additional, Mosca-Boidron, A.-L., additional, Huet, F., additional, Balikova, I., additional, Teyssier, J.-R., additional, Mugneret, F., additional, Thauvin-Robinet, C., additional, and Callier, P., additional

Published
2011
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