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Results 1-10 of 16 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2014Inactivating mutations in NPC1L1 and protection from coronary heart diseaseStitziel, N.O.; Won, H.H.; Morrison, A.C.; Peloso, G.M.; Do, R.; Lange, L.A.; Fontanillas, P.; Gupta, N.; Duga, S.; Goel, A.; Farrall, M.; Saleheen, D.; Ferrario, P.; König, I.; Asselta, R.; Merlini, P.A.; Marziliano, N.; Notarangelo, M.F.; Schick, U.; Auer, P.; et al.
2019Chromosomal abnormalities and prognosis in NPM1-mutated acute myeloid leukemia: a pooled analysis of individual patient data from nine international cohortsAngenendt, L.; Röllig, C.; Montesinos, P.; Martínez-Cuadrón, D.; Barragan, E.; García, R.; Botella, C.; Martínez, P.; Ravandi, F.; Kadia, T.; Kantarjian, H.M.; Cortes, J.; Juliusson, G.; Lazarevic, V.; Höglund, M.; Lehmann, S.; Recher, C.; Pigneux, A.; Bertoli, S.; Dumas, P.Y.; et al.
2019Myocilin gene Gln368Ter variant penetrance and association with glaucoma in population-based and registry-based studiesHan, X.; Souzeau, E.; Ong, J.S.; An, J.; Siggs, O.M.; Burdon, K.P.; Best, S.; Goldberg, I.; Healey, P.R.; Graham, S.L.; Ruddle, J.B.; Mills, R.A.; Landers, J.; Galanopoulos, A.; White, A.J.R.; Casson, R.; Mackey, D.A.; Hewitt, A.W.; Gharahkhani, P.; Craig, J.E.; et al.
2021Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemiaOchi, Y.; Yoshida, K.; Huang, Y.-J.; Kuo, M.-C.; Nannya, Y.; Sasaki, K.; Mitani, K.; Hosoya, N.; Hiramoto, N.; Ishikawa, T.; Branford, S.; Shanmuganathan, N.; Ohyashiki, K.; Takahashi, N.; Takaku, T.; Tsuchiya, S.; Kanemura, N.; Nakamura, N.; Ueda, Y.; Yoshihara, S.; et al.
2023TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasmsShah, M.V.; Tran, E.N.H.; Shah, S.; Chhetri, R.; Baranwal, A.; Ladon, D.; Shultz, C.; Al-Kali, A.; Brown, A.L.; Chen, D.; Scott, H.S.; Greipp, P.; Thomas, D.; Alkhateeb, H.B.; Singhal, D.; Gangat, N.; Kumar, S.; Patnaik, M.M.; Hahn, C.N.; Kok, C.H.; et al.
2013PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancerDay, F.; Jorissen, R.; Lipton, L.; Mouradov, D.; Sakthianandeswaren, A.; Christie, M.; Li, S.; Tsui, C.; Tie, J.; Desai, J.; Xu, Z.; Molloy, P.; Whitehall, V.; Leggett, B.; Jones, I.; McLaughlin, S.; Ward, R.; Hawkins, N.; Ruszkiewicz, A.; Moore, J.; et al.
2016Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and IDvan Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
2008Nilotinib (formerly AMN107), a highly selective BCR-ABL tyrosine kinase inhibitor, is active in patients with imatinib-resistant or -intolerant accelerated-phase chronic myelogenous leukemiale Coutre, P.; Ottmann, O.; Giles, F.; Kim, D.; Cortes, J.; Gattermann, N.; Apperley, J.; Larson, R.; Abruzzese, E.; O'Brien, S.; Kuliczkowski, K.; Hochhaus, A.; Mahon, F.; Saglio, G.; Gobbi, M.; Kwong, Y.; Baccarani, M.; Hughes, T.; Martinelli, G.; Radich, J.; et al.
2011A novel recurrent mutation in MITF predisposes to familial and sporadic melanomaYokoyama, S.; Woods, S.; Boyle, G.; Aoude, L.; MacGregor, S.; Zismann, V.; Gartside, M.; Cust, A.; Haq, R.; Harland, M.; Taylor, J.; Duffy, D.; Holohan, K.; Dutton-Regester, K.; Palmer, J.; Bonazzi, V.; Stark, M.; Symmons, J.; Law, M.; Schmidt, C.; et al.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.

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