Zobrazeno 1 - 10
of 140
pro vyhledávání: '"V, Scotet"'
Publikováno v:
Archives de Pédiatrie. 27:eS4-eS7
Cystic fibrosis (CF) is an autosomal recessive genetic disorder whose responsible gene - the CFTR gene - was discovered 30 years ago by a positional cloning strategy. This gene, which encodes a chloride channel, contains more than 2,000 mutations inc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9209b2bea4a5857c40464b4dde02ba1a
https://doi.org/10.1016/s0929-693x(20)30043-9
https://doi.org/10.1016/s0929-693x(20)30043-9
Autor:
N. Pellen, G. Bellis, G. Rault, L. Gueganton, C. Belleguic, E. Deneuville, H. Journel, S. Ramel, V. Scotet, C. Ferec
Publikováno v:
Journal of Cystic Fibrosis. 19:S55
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::158fc4c7bf2ec7c2cfd7245ff22d871c
https://doi.org/10.1016/s1569-1993(20)30340-4
https://doi.org/10.1016/s1569-1993(20)30340-4
Publikováno v:
EMC - Pneumologie. 9:1-7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3572c9d813a40888f70c61bc655a0471
https://doi.org/10.1016/s1155-195x(12)47981-6
https://doi.org/10.1016/s1155-195x(12)47981-6
Publikováno v:
Archives de Pédiatrie. 19:S3-S7
Cystic fibrosis (CF) is defined as the most common life shortening genetic disorder in the Caucasian populations. The cloning of the gene responsible for the disease - the CFTR (Cystic Fibrosis Transmembrane conductance Regulator) gene - twenty years
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79f34e2de42d6734e9fdd2cf1ad75bcc
https://doi.org/10.1016/s0929-693x(12)71099-0
https://doi.org/10.1016/s0929-693x(12)71099-0
Akademický článek
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Autor:
Pascale Barberger-Gateau, V Scotet, Hélène Jacqmin-Gadda, Daniel Commenges, Jean-François Dartigues, S Renaud
Publikováno v:
European Journal of Epidemiology. 16:357-363
It has been postulated that oxidative stress may play a key role in dementia. This is substantiated by the recent discovery of the protective effect of wine. In wine, the flavonoids--powerful antioxidant substances also contained in tea, fruits and v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4fcb4fb2b6500533cf633a29d11113b5
https://doi.org/10.1023/a:1007614613771
https://doi.org/10.1023/a:1007614613771
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 19
Cystic fibrosis (CF) is defined as the most common life shortening genetic disorder in the Caucasian populations. The cloning of the gene responsible for the disease - the CFTR (Cystic Fibrosis Transmembrane conductance Regulator) gene - twenty years
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::891834f72f529a7004e7257de3895ec6
https://pubmed.ncbi.nlm.nih.gov/22682487
https://pubmed.ncbi.nlm.nih.gov/22682487
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
M, Roussey, A, Le Bihannic, M P, Audrezet, M, Blayau, M, Dagorne, E, Deneuville, C, Férec, H, Journel, V, Moisan-Petit, G, Rault, V, Scotet, V, Storni, P, Vigneron
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 12(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d87e200d606eda828c309fa78e8e7dcd
https://pubmed.ncbi.nlm.nih.gov/15904758
https://pubmed.ncbi.nlm.nih.gov/15904758
Publikováno v:
British journal of haematology. 125(5)
The molecular basis of hereditary hemochromatosis (HH) is more complex than previously expected. More than 80% of hemochromatosis probands of Northern European descent are homozygous for the C282Y HFE gene mutation. However, five novel non-related-HF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::62e76418711934767eb33d7b3f3e7e74
https://pubmed.ncbi.nlm.nih.gov/15147384
https://pubmed.ncbi.nlm.nih.gov/15147384