DeStefano A - Search Results

1

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus.

Desikan RS, Schork AJ, Wang Y, Witoelar A, Sharma M, McEvoy LK, Holland D, Brewer JB, Chen CH, Thompson WK, Harold D, Williams J, Owen MJ, O'Donovan MC, Pericak-Vance MA, Mayeux R, Haines JL, Farrer LA, Schellenberg GD, Heutink P, Singleton AB, Brice A, Wood NW, Hardy J, Martinez M, Choi SH, DeStefano A, Ikram MA, Bis JC, Smith A, Fitzpatrick AL, Launer L, van Duijn C, Seshadri S, Ulstein ID, Aarsland D, Fladby T, Djurovic S, Hyman BT, Snaedal J, Stefansson H, Stefansson K, Gasser T, Andreassen OA, Dale AM; ADNI, ADGC, GERAD, CHARGE and IPDGC Investigators. Desikan RS, et al. Among authors: destefano a. Mol Psychiatry. 2015 Dec;20(12):1588-95. doi: 10.1038/mp.2015.6. Epub 2015 Feb 17. Mol Psychiatry. 2015. PMID: 25687773 Free PMC article.

2

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

Baldwin CT, Weiss S, Farrer LA, De Stefano AL, Adair R, Franklyn B, Kidd KK, Korostishevsky M, Bonné-Tamir B. Baldwin CT, et al. Hum Mol Genet. 1995 Sep;4(9):1637-42. doi: 10.1093/hmg/4.9.1637. Hum Mol Genet. 1995. PMID: 8541853

3

Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3.

Bonné-Tamir B, DeStefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA. Bonné-Tamir B, et al. Among authors: destefano al. Am J Hum Genet. 1996 Jun;58(6):1254-9. Am J Hum Genet. 1996. PMID: 8651303 Free PMC article.

4

A novel mutation in the MITF gene causes Waardenburg syndrome type 2.

Lautenschlager NT, Milunsky A, DeStefano A, Farrer L, Baldwin CT. Lautenschlager NT, et al. Among authors: destefano a. Genet Anal. 1996 Jul;13(2):43-4. doi: 10.1016/1050-3862(95)00148-4. Genet Anal. 1996. PMID: 8880147

5

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins.

Gaspar C, Lopes-Cendes I, DeStefano AL, Maciel P, Silveira I, Coutinho P, MacLeod P, Sequeiros J, Farrer LA, Rouleau GA. Gaspar C, et al. Among authors: destefano al. Hum Genet. 1996 Nov;98(5):620-4. doi: 10.1007/s004390050270. Hum Genet. 1996. PMID: 8882886

6

Detecting linkage for a complex disease using simulated extended pedigrees.

DeStefano AL, Cupples LA, Myers RH, Farrer LA. DeStefano AL, et al. Genet Epidemiol. 1997;14(6):981-6. doi: 10.1002/(SICI)1098-2272(1997)14:6<981::AID-GEPI70>3.0.CO;2-G. Genet Epidemiol. 1997. PMID: 9433611

7

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.

8

Evidence for linkage between essential hypertension and a putative locus on human chromosome 17.

Baima J, Nicolaou M, Schwartz F, DeStefano AL, Manolis A, Gavras I, Laffer C, Elijovich F, Farrer L, Baldwin CT, Gavras H. Baima J, et al. Among authors: destefano al. Hypertension. 1999 Jul;34(1):4-7. doi: 10.1161/01.hyp.34.1.4. Hypertension. 1999. PMID: 10406815

9

Power of concordant versus discordant sib pairs at different penetrance levels.

Nicolaou M, Premkumar S, DeStefano AL, Farrer LA, Cupples LA. Nicolaou M, et al. Among authors: destefano al. Genet Epidemiol. 1999;17 Suppl 1:S679-84. doi: 10.1002/gepi.13701707111. Genet Epidemiol. 1999. PMID: 10597513

10

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

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