Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Vanstone, Megan"'
Autor:
Vanstone, Megan
Myoclonus-Dystonia (MD) is an inherited, rare, autosomal dominant movement disorder characterized by quick, involuntary muscle jerking or twitching (myoclonus) and involuntary muscle contractions that cause twisting and pulling movements, resulting i
Externí odkaz:
http://hdl.handle.net/10393/23486
Autor:
Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M., Estivill, Xavier, Goldblatt, Jack, Gonthier, Catherine, Groft, Stephen C., Gut, Ivo, Hamosh, Ada, Hieter, Philip, Höhn, Sophie, Hurles, Matthew E., Kaufmann, Petra, Knoppers, Bartha M., Krischer, Jeffrey P., Macek, Milan, Jr., Matthijs, Gert, Olry, Annie, Parker, Samantha, Paschall, Justin, Philippakis, Anthony A., Rehm, Heidi L., Robinson, Peter N., Sham, Pak-Chung, Stefanov, Rumen, Taruscio, Domenica, Unni, Divya, Vanstone, Megan R., Zhang, Feng, Brunner, Han, Bamshad, Michael J., Lochmüller, Hanns
Publikováno v:
In The American Journal of Human Genetics 4 May 2017 100(5):695-705
Autor:
Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V., Roberts, Nicola, Johnson, Colin A., Singh, Shawn, Kholmanskikh, Stanislav S., Adams, Carissa, Hodge, Rebecca D., Hevner, Robert F., Bonthron, David T., Braun, Kees P J, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W., Mancini, Grazia M S, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kim M., Pilz, Daniela T., Ross, Elizabeth, Dobyns, William B., Sheridan, Eamonn G., Friedman, J., Michaud, J., Bernier, F., Brudno, M., Fernandez, B., Knoppers, B., Samuels, M., Scherer, S.
Publikováno v:
Nature Genetics, 46(5), 510-515. Nature Publishing Group
Nature genetics
Nature genetics
Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387)(1-3). Here we report that individuals with MPPH lacking upst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d042f8d35bd748842ceaa1a1888464
https://doi.org/10.1038/ng.2948
https://doi.org/10.1038/ng.2948
Publikováno v:
Nature Reviews Genetics. Oct2013, Vol. 14 Issue 10, p681-691. 11p. 1 Diagram, 1 Chart, 2 Graphs.
Autor:
Huang, Lijia, Vanstone, Megan R, Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A, Dipple, Katrina M, Dobyns, William B, Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P, Goel, Himanshu, Gregersen, Pernille A, Gripp, Karen W, Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H, Hudson, Cindy, Hunter, Alasdair GW, Johnson, John, Joss, Shelagh K, Kimball, Amy, Kini, Usha, Kline, Antonie D, Lauzon, Julie, Lildballe, Dorte L, López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M, Morel, Chantal F, Morton, Jenny EV, Pyle, Louise C, Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E, Schönewolf-Greulich, Bitten, Shears, Deborah J, Silver, Josh, Smith, Amanda C, Temple, I Karen, UCLA Clinical Genomics Center, van de Kamp, Jiddeke M, van Dijk, Fleur S, Vandersteen, Anthony M, White, Sue M, Zackai, Elaine H, Zou, Ruobing, Care4Rare Canada Consortium, Bulman, Dennis E, Boycott, Kym M, Lines, Matthew A
Publikováno v:
Human mutation, vol 37, iss 2
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in some cases, esophageal atresia. Haploinsufficiency of a spliceosomal G
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::88c93c413e5ff258da3b335cca1341cd
https://escholarship.org/uc/item/7bf8s425
https://escholarship.org/uc/item/7bf8s425
Autor:
Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
Publikováno v:
In The American Journal of Human Genetics 11 July 2013 93(1):158-166
Autor:
Cheung, Yee Him, Gayden, Tenzin, Campeau, Philippe M., LeDuc, Charles A., Russo, Donna, Nguyen, Van-Hung, Guo, Jiancheng, Qi, Ming, Guan, Yanfang, Albrecht, Steffen, Moroz, Brenda, Eldin, Karen W., Lu, James T., Schwartzentruber, Jeremy, Malkin, David, Berghuis, Albert M., Emil, Sherif, Gibbs, Richard A., Burk, David L., Vanstone, Megan, Lee, Brendan H., Orchard, David, Boycott, Kym M., Chung, Wendy K., Jabado, Nada
Publikováno v:
In The American Journal of Human Genetics 6 June 2013 92(6):996-1000
Akademický článek
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Akademický článek
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Autor:
Boycott, Kym M., Dyment, David A., Sawyer, Sarah L., Vanstone, Megan R., Beaulieu, Chandree L.
Publikováno v:
Annual Review of Medicine; 2014, Vol. 65 Issue 1, p19-31, 17p