Zobrazeno 1 - 10
of 83
pro vyhledávání: '"C Aquaviva"'
Autor:
Anne Vassault, Gilbert Briand, François Labarthe, François Feillet, P. de Lonlay, Christine Vianey-Saban, C Aquaviva, Brigitte Chabrol, Dries Dobbelaere, R Garnotel, Julien Baruteau, E Jeannesson, et sous l’égide de la Sfeim, David Cheillan, Vassili Valayanopoulos, Hélène Ogier
Publikováno v:
Archives de Pédiatrie. 19:184-193
MCAD deficiency is the most common fatty acid oxidation disorder, with the prevalence varying from 1/10,000 to 1/27,000 in the countries adjacent to France. As the High Authority for Health has recently proposed including MCAD deficiency in the panel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::097cf681934cfa00cd607b0c8a585d26
https://doi.org/10.1016/j.arcped.2011.10.025
https://doi.org/10.1016/j.arcped.2011.10.025
Akademický článek
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Autor:
Gaetan Lesca, Nicolas Chatron, Audrey Labalme, C. Francannet, V. Desportes, Patrick Edery, C. Aquaviva, Damien Sanlaville, Anne-Lise Poulat, C. Saban, Marianne Till, Audrey Putoux, Caroline Schluth-Bolard, M. Faoucher
Publikováno v:
European Journal of Paediatric Neurology. 21:e63
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1cd6c0dd3189157c70b39c9f2bb0a8fa
https://doi.org/10.1016/j.ejpn.2017.04.928
https://doi.org/10.1016/j.ejpn.2017.04.928
Autor:
F, Feillet, H, Ogier, D, Cheillan, C, Aquaviva, F, Labarthe, J, Baruteau, B, Chabrol, P, de Lonlay, V, Valayanopoulos, R, Garnotel, D, Dobbelaere, G, Briand, E, Jeannesson, A, Vassault, C, Vianey-Saban
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 19(2)
MCAD deficiency is the most common fatty acid oxidation disorder, with the prevalence varying from 1/10,000 to 1/27,000 in the countries adjacent to France. As the High Authority for Health has recently proposed including MCAD deficiency in the panel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a62cf50cb2ab3dee949bd4f19adef500
https://pubmed.ncbi.nlm.nih.gov/22244319
https://pubmed.ncbi.nlm.nih.gov/22244319
Publikováno v:
Revue Neurologique. 168:296-297
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e9b314c3d98cbbcaa7520724833ef6c
https://doi.org/10.1016/j.neurol.2011.06.008
https://doi.org/10.1016/j.neurol.2011.06.008
Publikováno v:
Clinical Genetics. 80:598-599
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5de481153740a667d7f5a6981908fe65
https://doi.org/10.1111/j.1399-0004.2011.01709.x
https://doi.org/10.1111/j.1399-0004.2011.01709.x
Autor:
T, Bienvenu, I, Souville, K, Poirier, C, Aquaviva, L, Burglen, J, Amiel, B, Héron, A, Kaminska, P, Couvert, C, Beldjord, J, Chelly
Publikováno v:
Human mutation. 18(3)
Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in 70-85% of RTT cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d2f16275b596051c2353e3ef4904a8f7
https://pubmed.ncbi.nlm.nih.gov/11524737
https://pubmed.ncbi.nlm.nih.gov/11524737
Autor:
I Souville, J Steffann, H.H. Ropers, Sylvain Briault, Chantal Gendrot, B Cherif, Alain Verloes, H G Yntema, Jean-Pierre Fryns, J Chelly, A C Le Fevre, C Moraine, C Aquaviva, Philippe Couvert, des Portes, Christian R. Andres, K Poirier, T Bienvenu
Publikováno v:
Human Molecular Genetics, 10, 941--6
Scopus-Elsevier
Human Molecular Genetics, 10, 9, pp. 941--6
Scopus-Elsevier
Human Molecular Genetics, 10, 9, pp. 941--6
Item does not contain fulltext Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of phenotypes, including mental handicap, has been shown to be associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7969897d9d58a9cd3df857545705124c
http://hdl.handle.net/2066/186849
http://hdl.handle.net/2066/186849
Autor:
C, Salvat, C, Aquaviva, I, Jariel-Encontre, P, Ferrara, M, Pariat, A M, Steff, S, Carillo, M, Piechaczyk
Publikováno v:
Molecular biology reports. 26(1-2)
The c-Fos and c-Jun oncoproteins and the p53 tumor suppressor protein are short-lived transcription factors. Several catabolic pathways contribute to their degradation in vivo. c-Fos and c-Jun are thus mostly degraded by the proteasome, but there is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::81fabbf57a7ac4c3cd4671c8114603f4
https://pubmed.ncbi.nlm.nih.gov/10363646
https://pubmed.ncbi.nlm.nih.gov/10363646
Publikováno v:
The Journal of rheumatology. 25(7)
To determine a pharmacokinetic procedure (Bayesian method) for estimation of methotrexate (MTX) clearance, using only 2 blood samples, in outpatients with rheumatoid arthritis treated with low dose intramuscular (i.m.) MTX.Population pharmacokinetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::57037bf9bce6548308f534f0c116116a
https://pubmed.ncbi.nlm.nih.gov/9676756
https://pubmed.ncbi.nlm.nih.gov/9676756