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Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.
Ophoff RA, DeYoung J, Service SK, Joosse M, Caffo NA, Sandkuijl LA, Terwindt GM, Haan J, van den Maagdenberg AM, Jen J, Baloh RW, Barilla-LaBarca ML, Saccone NL, Atkinson JP, Ferrari MD, Freimer NB, Frants RR. Ophoff RA, et al. Among authors: saccone nl. Am J Hum Genet. 2001 Aug;69(2):447-53. doi: 10.1086/321975. Epub 2001 Jun 28. Am J Hum Genet. 2001. PMID: 11438888 Free PMC article.
Genome screen for platelet monoamine oxidase (MAO) activity.
Saccone NL, Rice JP, Rochberg N, Goate A, Reich T, Shears S, Wu W, Nurnberger JI Jr, Foroud T, Edenberg HJ, Li TK. Saccone NL, et al. Am J Med Genet. 1999 Oct 15;88(5):517-21. doi: 10.1002/(sici)1096-8628(19991015)88:5<517::aid-ajmg15>3.0.co;2-b. Am J Med Genet. 1999. PMID: 10490709
A genome screen of maximum number of drinks as an alcoholism phenotype.
Saccone NL, Kwon JM, Corbett J, Goate A, Rochberg N, Edenberg HJ, Foroud T, Li TK, Begleiter H, Reich T, Rice JP. Saccone NL, et al. Am J Med Genet. 2000 Oct 9;96(5):632-7. doi: 10.1002/1096-8628(20001009)96:5<632::aid-ajmg8>3.0.co;2-#. Am J Med Genet. 2000. PMID: 11054770
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
Kapoor M, Wang JC, Wetherill L, Le N, Bertelsen S, Hinrichs AL, Budde J, Agrawal A, Bucholz K, Dick D, Harari O, Hesselbrock V, Kramer J, Nurnberger JI Jr, Rice J, Saccone N, Schuckit M, Tischfield J, Porjesz B, Edenberg HJ, Bierut L, Foroud T, Goate A. Kapoor M, et al. Hum Genet. 2013 Oct;132(10):1141-51. doi: 10.1007/s00439-013-1318-z. Epub 2013 Jun 7. Hum Genet. 2013. PMID: 23743675 Free PMC article.
Definition of the phenotype.
Rice JP, Saccone NL, Rasmussen E. Rice JP, et al. Among authors: saccone nl. Adv Genet. 2001;42:69-76. doi: 10.1016/s0065-2660(01)42015-3. Adv Genet. 2001. PMID: 11037314 Review.
The lod score method.
Rice JP, Saccone NL, Corbett J. Rice JP, et al. Among authors: saccone nl. Adv Genet. 2001;42:99-113. doi: 10.1016/s0065-2660(01)42017-7. Adv Genet. 2001. PMID: 11037316 Review.
141 results