Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Rachel Peat"'
Autor:
Odelia Rajanayagam, Nadia Schoenmakers, Bradley A. Carlson, Erik Schoenmakers, Rachel Peat, Francesco Muntoni, Maura Agostini, Evelien F. Gevers, Pascale Guicheney, Ryuta Tobe, Greta Lyons, Krishna Chatterjee, Carla Moran, Sadaf Farooqi, Dolph L. Hatfield, Elena G. Bochukova
Publikováno v:
Journal of Clinical Investigation
Journal of Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩
Journal of Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩
Journal of Clinical Investigation, American Society for Clinical Investigation, 2016, 126 (3), pp.992-996. ⟨10.1172/JCI84747⟩
International audience; Selenium is a trace element that is essential for human health and is incorporated into more than 25 human selenocysteine-containing (Sec-containing) proteins via unique Sec-insertion machinery that includes a specific, nuclea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5b564f713cffd43e17bc6acb51e4ba5
https://hal.sorbonne-universite.fr/hal-01295150
https://hal.sorbonne-universite.fr/hal-01295150
Autor:
Federica Dagradi, Alfred L. George, Rachel Peat, Lauri Toivonen, Lia Crotti, Sabine Duchatelet, Seiko Ohno, Cristina Crocamo, Peter J. Schwartz, Alessandro Vicentini, Heikki Swan, Matteo Pedrazzini, Didier Klug, David-Alexandre Trégouët, Pascale Guicheney, Isabelle Denjoy, Annukka M. Lahtinen, Kimmo Kontula, Myriam Berthet, Maria Cristina Monti, Hideki Itoh, Minoru Horie, Althea Goosen, Paul A. Brink, Wataru Shimizu, Véronique Fressart
Publikováno v:
Circ. Cardiovasc. Genet. 6, 354-361 (2013)
Background— Long-QT syndrome (LQTS) is characterized by such striking clinical heterogeneity that, even among family members carrying the same mutation, clinical outcome can range between sudden death and no symptoms. We investigated the role of ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4510a0d295be720b9900c06c3de7a567
http://hdl.handle.net/10281/138287
http://hdl.handle.net/10281/138287
Autor:
Eliane Chouery, J. Andoni Urtizberea, Rachel Peat, Pascale Guicheney, Françoise Gray, Nigel F. Clarke, Kevin P. Campbell, C. Bouchet, Tobias Willer, Hiroshi Manya, Sandrine Vuillaumier-Barrot, Svetlana Maugenre, Aurélie Vandebrouck, Tamao Endo, André Mégarbané
Publikováno v:
European journal of human genetics : EJHG. 19(4)
Mutation of the LARGE gene is the rarest of the six known genetic causes of α-dystroglycanopathy. We report further a family with MDC1D due to a complex genomic rearrangement that was not apparent on standard sequencing of LARGE. Two sisters in a co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb3372c8aab20ad289949d3848a7aaa7
https://pubmed.ncbi.nlm.nih.gov/21248746
https://pubmed.ncbi.nlm.nih.gov/21248746
Autor:
Isabelle Denjoy, Craig T. January, Véronique Fressart, Rachel Peat, Pascale Guicheney, Sabine Duchatelet, Daniel C. Bartos, J. M. Lupoglazoff, Michael J. Ackerman, Brian P. Delisle, Myriam Berthet, Didier Klug, Don E. Burgess
Background Loss-of-function mutations in the gene KCNQ1 encoding the Kv7.1 K + channel cause long QT syndrome type 1 (LQT1), whereas gain-of-function mutations are associated with short QT syndrome as well as familial atrial fibrillation (FAF). Howev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a53ad77704ec7cb2556434111889a55
https://europepmc.org/articles/PMC3706092/
https://europepmc.org/articles/PMC3706092/
Autor:
Pascale Guicheney, Rachel Peat, Minoru Horie, Myriam Berthet, Sabine Duchatelet, Hideki Itoh, Wataru Shimizu, Véronique Fressart, Seiko Ohno, Isabelle Denjoy, Peter J. Schwartz, David-Alexandre Trégouët, Matteo Pedrazzini, Didier Klug, Lia Crotti
Publikováno v:
Archives of Cardiovascular Diseases Supplements. (1):92
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d28582354f96877abcaf4dadbebd2e3d