Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Robert Rousson"'
Autor:
Hervé Crehalet, Gilles Millat, Juliette Albuisson, Véronique Bonnet, Isabelle Rouvet, Robert Rousson, Dominique Bozon
Publikováno v:
Cardiogenetics, Vol 2, Iss 1, Pp e6-e6 (2012)
The identification of molecular anomalies in patients with inherited arrhythmias or cardiomyopathies is a multi challenge due to: i) the number of genes involved; ii) the number of polymorphisms and the fact that most mutations are private; and iii)
Externí odkaz:
https://doaj.org/article/ce2807ab1b464ac8b8b76709dbdfc242
Autor:
Michel Hanss, Catherine Pouymayou, Marie-Thérèse Blouch, Franck Lellouche, Patrick Ffrench, Robert Rousson, Jean-François Abgrall, Pierre-Emmanuel Morange, Florence Quélin, Philippe de Mazancourt
Publikováno v:
Haematologica, Vol 96, Iss 8 (2011)
Analyses of site-directed fibrinogen mutants expressed in several recombinant models have previously shown that both inter- and intra-chain disulfide bonds are critical for fibrinogen assembly and secretion. Four naturally occurring mutations on AαC
Externí odkaz:
https://doaj.org/article/a5cccc0aace14536a65e11f11ff2b28a
Autor:
Anthony Boivin, Maité Hanot, Céline Malesys, Mira Maalouf, Robert Rousson, Claire Rodriguez-Lafrasse, Dominique Ardail
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e14558 (2011)
BACKGROUND:Head and neck squamous cell carcinoma (HNSCC) is an aggressive and recurrent malignancy owing to intrinsic radioresistance and lack of induction of apoptosis. The major focus of this work was to design a transient glutathione depleting str
Externí odkaz:
https://doaj.org/article/cd60e2c285fb43f2b00785570a3cc95e
Autor:
Patrick Ffrench, Michel Hanss, Philippe de Mazancourt, Aurélie Matrat, Laurent Derex, Robert Rousson, Norbert Nighoghossian
Publikováno v:
Thrombosis Research. 131:e45-e48
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b45c59f1a69d7e38413e52e24e639c14
https://doi.org/10.1016/j.thromres.2012.11.009
https://doi.org/10.1016/j.thromres.2012.11.009
Autor:
Florence Quélin, Pierre-Emmanuel Morange, Robert Rousson, Jean-François Abgrall, Philippe de Mazancourt, Catherine Pouymayou, Michel Hanss, Marie-Thérèse Blouch, Patrick Ffrench, Franck Lellouche
Publikováno v:
Haematologica
Haematologica, Ferrata Storti Foundation, 2011, 96 (8), pp.1226-30. ⟨10.3324/haematol.2010.029801⟩
Haematologica, Ferrata Storti Foundation, 2011, 96 (8), pp.1226-30. ⟨10.3324/haematol.2010.029801⟩
International audience; Analyses of site-directed fibrinogen mutants expressed in several recombinant models have previously shown that both inter- and intra-chain disulfide bonds are critical for fibrinogen assembly and secretion. Four naturally occ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df39d0b3575c3b6b77cd9cedd818464e
https://doi.org/10.3324/haematol.2010.029801
https://doi.org/10.3324/haematol.2010.029801
Publikováno v:
La Revue de Médecine Interne. 31:S233-S237
Primary hypertrophic cardiomyopathy is a relatively frequent disease (1/500) which results from a mutation in a gene encoding a sarcomeric protein. In a series of 184 cases, nearly half (46 %) were secondary to a mutation in one of the 4 following ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9dd9aafb679c73ab41c40baf7aeec59f
https://doi.org/10.1016/s0248-8663(10)70019-9
https://doi.org/10.1016/s0248-8663(10)70019-9
Autor:
Dominique Bozon, Rafaëlle Bernard, Véronique Bonnet, Robert Rousson, Nathalie Bonello, Pierre Labauge, Shahram Attarian, Philippe Latour, Hervé Crehalet, Gilles Millat
Publikováno v:
neurogenetics. 11:13-19
We report the molecular characterization of two splice mutations in two different French families affected with a late onset form of Charcot–Marie–Tooth disease type 1B (CMT1B), an autosomal dominant inherited disorder caused by mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310d956ce88c1a225e5d32d69214c6b4
https://doi.org/10.1007/s10048-009-0199-8
https://doi.org/10.1007/s10048-009-0199-8
Publikováno v:
Clinical Biochemistry. 42:491-499
Objectives SCN5A mutations lead to a wide spectrum of cardiovascular disorders. Due to large cohorts to investigate and the large gene size, mutational screening must be performed using an extremely sensitive and specific scanning method. Design and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1eaeef4800c6fc5b953f6fc24d501b14
https://doi.org/10.1016/j.clinbiochem.2008.10.014
https://doi.org/10.1016/j.clinbiochem.2008.10.014
Autor:
Peter G. Pentchev, David A. Wenger, Robert Rousson, Marcella E. Comly, Marie T. Vanier, Roscoe O. Brady
Publikováno v:
Clinical Genetics. 33:331-348
Seventy patients were selected to cover the range of variability in clinical expression of Niemann-Pick disease group C (NP-C). Their individual main clinical features and course of the disease (age at discovery and type of visceromegaly, age at onse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0156e21fd78b229094dc8a8cf590bbb4
https://doi.org/10.1111/j.1399-0004.1988.tb03460.x
https://doi.org/10.1111/j.1399-0004.1988.tb03460.x
Autor:
Elie Hadchity, Marie-Thérèse Aloy, André-Patrick Arrigo, Line Claude, Robert Rousson, Chantal Diaz-Latoud, Claire Rodriguez-Lafrasse, Clara Bionda
Publikováno v:
International Journal of Radiation Oncology*Biology*Physics. 70:543-553
Purpose The ability of heat shock protein 27 (Hsp27) to protect cells from stressful stimuli and its increased levels in tumors resistant to anticancer therapeutics suggest that it may represent a target for sensitization to radiotherapy. In this stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b8b8ad9fbc8d81f3270ddb96d8e62eb
https://doi.org/10.1016/j.ijrobp.2007.08.061
https://doi.org/10.1016/j.ijrobp.2007.08.061