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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: baloh rw. 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.
Familial migraine with vertigo: no mutations found in CACNA1A.
Kim JS, Yue Q, Jen JC, Nelson SF, Baloh RW. Kim JS, et al. Among authors: baloh rw. Am J Med Genet. 1998 Sep 1;79(2):148-51. doi: 10.1002/(sici)1096-8628(19980901)79:2<148::aid-ajmg11>3.0.co;2-j. Am J Med Genet. 1998. PMID: 9741473
Familial benign recurrent vertigo.
Oh AK, Lee H, Jen JC, Corona S, Jacobson KM, Baloh RW. Oh AK, et al. Among authors: baloh rw. Am J Med Genet. 2001 May 15;100(4):287-91. doi: 10.1002/ajmg.1294. Am J Med Genet. 2001. PMID: 11343320
Clinical spectrum of episodic ataxia type 2.
Jen J, Kim GW, Baloh RW. Jen J, et al. Among authors: baloh rw. Neurology. 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50. Neurology. 2004. PMID: 14718690
342 results