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Page 1
Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.
Beecham GW, Vardarajan B, Blue E, Bush W, Jaworski J, Barral S, DeStefano A, Hamilton-Nelson K, Kunkle B, Martin ER, Naj A, Rajabli F, Reitz C, Thornton T, van Duijn C, Goate A, Seshadri S, Farrer LA, Boerwinkle E, Schellenberg G, Haines JL, Wijsman E, Mayeux R, Pericak-Vance MA; Alzheimer's Disease Sequencing Project. Beecham GW, et al. Among authors: destefano a. Neurol Genet. 2018 Nov 21;4(6):e286. doi: 10.1212/NXG.0000000000000286. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30569016 Free PMC article.
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, Lalwani AK, Milunsky A, Nance WE, Pandya A, Ramesar RS, Read AP, Tassabejhi M, Wilcox ER, Farrer LA. DeStefano AL, et al. Hum Genet. 1998 May;102(5):499-506. doi: 10.1007/s004390050732. Hum Genet. 1998. PMID: 9654197
Autosomal dominant orthostatic hypotensive disorder maps to chromosome 18q.
DeStefano AL, Baldwin CT, Burzstyn M, Gavras I, Handy DE, Joost O, Martel T, Nicolaou M, Schwartz F, Streeten DH, Farrer LA, Gavras H. DeStefano AL, et al. Am J Hum Genet. 1998 Nov;63(5):1425-30. doi: 10.1086/302096. Am J Hum Genet. 1998. PMID: 9792870 Free PMC article.
Stratification techniques to explore genotype environment interactions.
Wilk JB, Premkumar S, Nicolaou M, Myers RH, Maher NE, Harmon MD, Farrer LA, DeStefano AL, Cupples LA, Couropmitree NN. Wilk JB, et al. Among authors: destefano al. Genet Epidemiol. 1999;17 Suppl 1:S761-6. doi: 10.1002/gepi.13701707125. Genet Epidemiol. 1999. PMID: 10597527
Genetic predisposition to stroke in relatives of hypertensives.
Nicolaou M, DeStefano AL, Gavras I, Cupples LA, Manolis AJ, Baldwin CT, Gavras H, Farrer LA. Nicolaou M, et al. Among authors: destefano al. Stroke. 2000 Feb;31(2):487-92. doi: 10.1161/01.str.31.2.487. Stroke. 2000. PMID: 10657427
218 results