DeStefano AL - Search Results

1

Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: a genome-wide scan in the Framingham study.

Shearman AM, Ordovas JM, Cupples LA, Schaefer EJ, Harmon MD, Shao Y, Keen JD, DeStefano AL, Joost O, Wilson PW, Housman DE, Myers RH. Shearman AM, et al. Among authors: destefano al. Hum Mol Genet. 2000 May 22;9(9):1315-20. doi: 10.1093/hmg/9.9.1315. Hum Mol Genet. 2000. PMID: 10814713

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 familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease.

DeStefano AL, Cupples LA, Maciel P, Gaspar C, Radvany J, Dawson DM, Sudarsky L, Corwin L, Coutinho P, MacLeod P, et al. DeStefano AL, et al. Am J Hum Genet. 1996 Jul;59(1):119-27. Am J Hum Genet. 1996. PMID: 8659514 Free PMC article.

5

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

6

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

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

Identification of a polymorphic glutamic acid stretch in the alpha2B-adrenergic receptor and lack of linkage with essential hypertension.

Baldwin CT, Schwartz F, Baima J, Burzstyn M, DeStefano AL, Gavras I, Handy DE, Joost O, Martel T, Manolis A, Nicolaou M, Bresnahan M, Farrer L, Gavras H. Baldwin CT, et al. Among authors: destefano al. Am J Hypertens. 1999 Sep;12(9 Pt 1):853-7. doi: 10.1016/s0895-7061(99)00070-9. Am J Hypertens. 1999. PMID: 10509541

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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