Zobrazeno 1 - 9
of 9
pro vyhledávání: '"M P, Audrezet"'
Autor:
A. Bergougnoux, A. Billet, C. Ka, M. Heller, F. Degrugillier, M.-L. Vuillaume, V. Thoreau, S. Sasorith, C. Bareil, C. Thèze, C. Ferec, G. Le Gac, T. Bienvenu, E. Bieth, V. Gaston, G. Lalau, A. Pagin, M.-C. Malinge, F. Dufernez, L. Lemonnier, M. Koenig, P. Fergelot, M. Claustres, M. Taulan-Cadars, A. Kitzis, M.-P. Reboul, F. Becq, P. Fanen, C. Mekki, M.-P. Audrezet, E. Girodon, C. Raynal
Publikováno v:
Journal of Cystic Fibrosis.
The majority of variants of unknown clinical significance (VUCS) in the CFTR gene are missense variants. While change on the CFTR protein structure or function is often suspected, impact on splicing may be neglected. Such undetected splicing default
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131e84c1158247a3d610fcb39b578b40
https://doi.org/10.1016/j.jcf.2022.12.003
https://doi.org/10.1016/j.jcf.2022.12.003
Publikováno v:
Revue des Maladies Respiratoires Actualités. 8:188-190
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ebda19560a9b18d4c072754e97591372
https://doi.org/10.1016/s1877-1203(16)30089-1
https://doi.org/10.1016/s1877-1203(16)30089-1
Autor:
A, Laleye, B, Awede, B, Agboton, S, Azonbakin, O, Biaou, G, Sagbo, M, Adjagba, M P, Audrezet, C, Ferec, R, Darboux
Publikováno v:
Genetic counseling (Geneva, Switzerland). 23(4)
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, but poorly studied in Africa. Its frequency in the University Clinic of Nephrology and Hemodialysis of Cotonou during the ten last years was 7 cases pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::969242d56d887290f60ef4d38a57fbb9
https://pubmed.ncbi.nlm.nih.gov/23431742
https://pubmed.ncbi.nlm.nih.gov/23431742
Autor:
Karine Lacut, G. Le Gal, Dominique Mottier, Emmanuel Oger, B. Mercier, Christophe Leroyer, Emmanuel Nowak, Francis Couturaud, Lenaick Gourhant, M.-P. Audrezet, Aurélien Delluc
Publikováno v:
Thrombosis and Haemostasis
Thrombosis and Haemostasis, Schattauer, 2010, 103 (6), pp.1161-9. ⟨10.1160/TH09-07-0430⟩
Thrombosis and Haemostasis, Schattauer, 2010, 103 (6), pp.1161-9. ⟨10.1160/TH09-07-0430⟩
SummaryVenous thromboembolism (VTE) is a multifactorial disease, caused by interacting environmental and genetic risk factors. Gene-centric geno-typing strategy is one of the approaches to explore unexplained associations between risk factors and VTE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fd7b3a92283618b29ff0a981ce8184
https://pubmed.ncbi.nlm.nih.gov/20352152
https://pubmed.ncbi.nlm.nih.gov/20352152
Autor:
M J, Le Bris, H, Le Guern, C, Plouhinec, M P, Audrezet, P, Parent, J J, Chabaud, F, Morel, M, De Braekeleer, N, Douet-Guilbert
Publikováno v:
Genetic counseling (Geneva, Switzerland). 17(4)
We report the prenatal diagnosis of a mosaic 45,X/46,X,r(X)/46,XX foetus after amniocentesis for maternal second-trimester serum screening. Biparental contribution for the X chromosomes suggest the postzygotic formation of the X ring. The ring is tin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::55bf55dc045fcf4327ffc3ad37bb7f7e
https://pubmed.ncbi.nlm.nih.gov/17375529
https://pubmed.ncbi.nlm.nih.gov/17375529
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:
Pathologie-biologie. 45(10)
Mutations of the tumor suppressor gene TP53 have been detected in tumor tissues of a large variety of human malignancies and contribute to the development, progression and probably the prognosis of the disease. The pattern of somatic mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::513f7cd793b7b5d00a7e98bab7b859ca
https://pubmed.ncbi.nlm.nih.gov/9769951
https://pubmed.ncbi.nlm.nih.gov/9769951
Publikováno v:
Hereditary Diseases and Blood Transfusion ISBN: 9781461358343
The development of recombinant DNA techniques has permitted in the past years the mapping and cloning of an increasing number of genes responsible for human heriditable diseases. The analysis of the molecular basis of these diseases is now an obligat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::244523df027862489fc8dc5d3b804c9c
https://doi.org/10.1007/978-1-4615-2017-7_18
https://doi.org/10.1007/978-1-4615-2017-7_18
Publikováno v:
Gastroenterologie clinique et biologique. 18(1 Pt 2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4385c50faedf108a8ce193de3a3c3852
https://pubmed.ncbi.nlm.nih.gov/8013783
https://pubmed.ncbi.nlm.nih.gov/8013783