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19 results on '"Dumont, Bruno"'

1. Application of clinical and molecular profiling data to improve patient outcomes in psoriatic arthritis

Author

FitzGerald, Oliver, primary, Behrens, Frank, additional, Barton, Anne, additional, Bertheussen, Heidi, additional, Boutouyrie-Dumont, Bruno, additional, Coates, Laura, additional, Davies, Owen, additional, de Wit, Maarten, additional, Fagni, Filippo, additional, Goodyear, Carl S., additional, Gurke, Robert, additional, Hahnefeld, Lisa, additional, Huppertz, Christine, additional, Ioannidis, Vassilios, additional, Ibberson, Mark, additional, Katz, Arnon, additional, Klippstein, Maximilian, additional, Koehm, Michaela, additional, Korish, Shimon, additional, Mackay, Sina, additional, Martin, David A., additional, O’Sullivan, Denis, additional, Patel, Khadijah, additional, Rueping, Stefan, additional, Schett, Georg, additional, Scholich, Klaus, additional, Schwenk, Jochen M., additional, Siebert, Stefan, additional, Simon, David, additional, Vivekanantham, Arani, additional, and Pennington, Stephen R., additional

Published
2023
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7. Comparison of pharmacokinetics, safety and tolerability of secukinumab administered subcutaneously using different delivery systems in healthy volunteers and in psoriasis patients

Author

Bruin, Gerard, primary, Hockey, Hans‐Ulrich P., additional, La Stella, Phillip, additional, Sigurgeirsson, Bárdur, additional, Fu, Rong, additional, Patekar, Manmath, additional, Charef, Pascal, additional, Woessner, Ralph, additional, and Boutouyrie‐Dumont, Bruno, additional

Published
2020
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10. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Author

Barat-Houari, Mouna, primary, Dumont, Bruno, additional, Fabre, Aurélie, additional, Them, Frédéric TM, additional, Alembik, Yves, additional, Alessandri, Jean-Luc, additional, Amiel, Jeanne, additional, Audebert, Séverine, additional, Baumann-Morel, Clarisse, additional, Blanchet, Patricia, additional, Bieth, Eric, additional, Brechard, Marie, additional, Busa, Tiffany, additional, Calvas, Patrick, additional, Capri, Yline, additional, Cartault, François, additional, Chassaing, Nicolas, additional, Ciorca, Vidrica, additional, Coubes, Christine, additional, David, Albert, additional, Delezoide, Anne-Lise, additional, Dupin-Deguine, Delphine, additional, El Chehadeh, Salima, additional, Faivre, Laurence, additional, Giuliano, Fabienne, additional, Goldenberg, Alice, additional, Isidor, Bertrand, additional, Jacquemont, Marie-Line, additional, Julia, Sophie, additional, Kaplan, Josseline, additional, Lacombe, Didier, additional, Lebrun, Marine, additional, Marlin, Sandrine, additional, Martin-Coignard, Dominique, additional, Martinovic, Jelena, additional, Masurel, Alice, additional, Melki, Judith, additional, Mozelle-Nivoix, Monique, additional, Nguyen, Karine, additional, Odent, Sylvie, additional, Philip, Nicole, additional, Pinson, Lucile, additional, Plessis, Ghislaine, additional, Quélin, Chloé, additional, Shaeffer, Elise, additional, Sigaudy, Sabine, additional, Thauvin, Christel, additional, Till, Marianne, additional, Touraine, Renaud, additional, Vigneron, Jacqueline, additional, Baujat, Geneviève, additional, Cormier-Daire, Valérie, additional, Le Merrer, Martine, additional, Geneviève, David, additional, and Touitou, Isabelle, additional

Published
2015
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15. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Author

Barat-Houari, Mouna, Dumont, Bruno, Fabre, Aurélie, Them, Frédéric TM, Alembik, Yves, Alessandri, Jean-Luc, Amiel, Jeanne, Audebert, Séverine, Baumann-Morel, Clarisse, Blanchet, Patricia, Bieth, Eric, Brechard, Marie, Busa, Tiffany, Calvas, Patrick, Capri, Yline, Cartault, François, Chassaing, Nicolas, Ciorca, Vidrica, Coubes, Christine, David, Albert, Delezoide, Anne-Lise, Dupin-Deguine, Delphine, El Chehadeh, Salima, Faivre, Laurence, Giuliano, Fabienne, Goldenberg, Alice, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Kaplan, Josseline, Lacombe, Didier, Lebrun, Marine, Marlin, Sandrine, Martin-Coignard, Dominique, Martinovic, Jelena, Masurel, Alice, Melki, Judith, Mozelle-Nivoix, Monique, Nguyen, Karine, Odent, Sylvie, Philip, Nicole, Pinson, Lucile, Plessis, Ghislaine, Quélin, Chloé, Shaeffer, Elise, Sigaudy, Sabine, Thauvin, Christel, Till, Marianne, Touraine, Renaud, Vigneron, Jacqueline, Baujat, Geneviève, Cormier-Daire, Valérie, Le Merrer, Martine, Geneviève, David, and Touitou, Isabelle

Abstract

Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype–phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach.

Published
2016
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17. 3D Finite Element Method with Impedance Boundary Condition for the Modeling of Molten Metal Shape in Electromagnetic Casting.

Author

Dumont, Bruno and Gagnoud, Annie

Subjects
*ELECTROMAGNETIC surface waves, *MAGNETIC fields, *FINITE element method, *LIQUID metals
Abstract

Presents information on a study which analyzed the interactions between the shape of a molten metal and a magnetic field distribution using three-dimensional finite element method. Electromagnetic field computation; Results and discussion; Conclusions.

Published
2000

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