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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: freimer nb. 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.
Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate.
Ophoff RA, Escamilla MA, Service SK, Spesny M, Meshi DB, Poon W, Molina J, Fournier E, Gallegos A, Mathews C, Neylan T, Batki SL, Roche E, Ramirez M, Silva S, De Mille MC, Dong P, Leon PE, Reus VI, Sandkuijl LA, Freimer NB. Ophoff RA, et al. Among authors: freimer nb. Am J Hum Genet. 2002 Sep;71(3):565-74. doi: 10.1086/342291. Epub 2002 Jul 15. Am J Hum Genet. 2002. PMID: 12119601 Free PMC article.
Genetic mapping using haplotype and model-free linkage analysis supports previous evidence for a locus predisposing to severe bipolar disorder at 5q31-33.
Hong KS, McInnes LA, Service SK, Song T, Lucas J, Silva S, Fournier E, León P, Molina J, Reus VI, Sandkuijl LA, Freimer NB. Hong KS, et al. Among authors: freimer nb. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):83-6. doi: 10.1002/ajmg.b.20091. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 14755450
285 results