Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Ariane Mandel"'
Autor:
Theodore W. Laetsch, Luis Alberto Pedroza, Brittany Campbell, Mark L. Bernstein, An Van Damme, Scott Lindhorst, Bruce Crooks, Melyssa Aronson, Jagadeesh Ramdas, Shlomi Constantini, Patrick Tomboc, Ashraf Shamvil, Ben George, Gary Mason, Vanan Magimairajan, Garth Nicholas, Uri Tabori, Kami Wolfe Schneider, William D. Foulkes, Lisa Yu, Kara Semotiuk, David Sumerauer, Cindy Zhang, Rebecca C. Luiten, Sara Carroll, Michal Zapotocky, Stella Lanni, Christopher E. Pearson, Laura Palma, Ariane Mandel, David Malkin, Daniel C. Bowers, Melissa Edwards, Andrew Y. Shuen, Nobuko Hijiya, Rina Dvir, Warren Mason, Gagan B. Panigrahi, Nataliya Zhukova, Roula Farah, Michael Yalon Oren, Oz Mordechai, Eric Bouffet, Helen Toledano, Naureen Mushtaq, Musa Alharbi, Margaret E. Wierman, Kristina A. Cole, Andrea H. Seeley, S. Gallinger, Yi Yen Lee, Valerie Larouche, Carol Durno, David Samuel
Publikováno v:
Journal of clinical oncology, Vol. 37, no.6, p. 461-470 (2019)
Purpose Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate diagnosis is cri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9db2df8de98a692f0db34941043a3b9
https://doi.org/10.1200/jco.18.00474
https://doi.org/10.1200/jco.18.00474
Publikováno v:
Annales de Toxicologie Analytique. 21:21-25
Les differents marqueurs biologiques de la consommation d'alcool ethylique peuvent etre repartis en 2 groupes : marqueurs directs (ethanol, ethyl glucuronide, ethyl sulfate, esters ethyliques d'acides gras, cocaethylene) et marqueurs indirects (VGM,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c0405cf49782822e5f1368c66b4e256f
https://doi.org/10.1051/ata/2009027
https://doi.org/10.1051/ata/2009027
Publikováno v:
Annales de Toxicologie Analytique. 21:9-12
Les techniques de depistage (EMIT, CEDIA, FPIA, etc.) dediees aux matrices biologiques classiques, urine, serum, plasma, sont tres largement utilisees dans les laboratoires medicaux (LABM) et hospitaliers pour leur simplicite et rapidite d'execution
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9af077d016773f247c61b02b90e29c2
https://doi.org/10.1051/ata/2009028
https://doi.org/10.1051/ata/2009028
Autor:
Joann Bodurtha, Teresa Costa, Martin Li, Barbara R. Pober, Stephen W. Scherer, Ariane Mandel, Sarah R. Cox, Lucy R. Osborne, Lap-Chee Tsui, Theresa A. Grebe, David Chitayat
Publikováno v:
Nature Genetics. 29:321-325
Williams-Beuren syndrome (WBS) is most often caused by hemizygous deletion of a 1.5-Mb interval encompassing at least 17 genes at 7q11.23 (refs. 1,2). As with many other haploinsufficiency diseases, the mechanism underlying the WBS deletion is though
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54518c2ed2f0fea565b39c6c574a21ed
https://doi.org/10.1038/ng753
https://doi.org/10.1038/ng753
Autor:
Bassem A. Bejjani, Ariane Mandel, Lap-Chee Tsui, Lisa G. Shaffer, Yuan-Qing Wu, Lucy R. Osborne
Williams syndrome (WS) is a contiguous gene deletion disorder in which the commonly deleted region contains at least 17 genes. One of these genes, Syntaxin 1A (STX1A), codes for a protein that is highly expressed in the nervous system and is essentia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a268588b6c93da23b09ee1ecd87962d
http://hdl.handle.net/10722/44369
http://hdl.handle.net/10722/44369
Autor:
Ariane Mandel, Göran Elinder, Niklas Dahl, Ole Eklöf, Dmitry Tentler, Laurie Gordon, Peter Gustavsson
Publikováno v:
Scopus-Elsevier
Diamond-Blackfan anaemia (DBA) is a constitutional red blood cell hypoplasia which may be associated with a variety of developmental abnormalities. A gene for DBA was recently mapped to chromosome 19q13.2 and subsequently cloned. Analysis of 19q mark
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95dc684ea50ae0e71b1fbd4082a645f7
https://europepmc.org/articles/PMC1734524/
https://europepmc.org/articles/PMC1734524/