A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy (2002)
Schmidt S, Klaver, C.C.W., Saunders, A.M., Postel, E.A., Agarwal A, ...
Age-related maculopathy (ARM) is a multifactorial disorder known to have a substantial genetic component. The epsilon4 allele of the apolipoprotein E gene (APOE-4) has previously been reported to...
Dixon, M J, Small, K W, Jabs, E W, Leroy, B P, ...
Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder. In...
North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis.
PURPOSE: To study the North Carolina macular dystrophy phenotype (MCDR1) in multiple families of different ethnic backgrounds, to determine the genetic relationships of these families, and to...
North Carolina macular dystrophy: clinicopathologic correlation.
Small, K W, Voo, I, Flannery, J, Udar, N, Glasgow, B J
PURPOSE: To describe the clinical and histopathologic findings in a 72-year-old woman with North Carolina macular dystrophy. METHODS: Clinical examination was performed by slit-lamp biomicroscopy,...
North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis.
PURPOSE: To study the North Carolina macular dystrophy phenotype (MCDR1) in multiple families of different ethnic backgrounds, to determine the genetic relationships of these families, and to...
North Carolina macular dystrophy: clinicopathologic correlation.
Small, K W, Voo, I, Flannery, J, Udar, N, Glasgow, B J
PURPOSE: To describe the clinical and histopathologic findings in a 72-year-old woman with North Carolina macular dystrophy. METHODS: Clinical examination was performed by slit-lamp biomicroscopy,...
A clinicopathological study of ocular involvement in primary hyperoxaluria type I.
Small, K W, Scheinman, J, Klintworth, G K
We performed a clinicopathological study on the eyes of a 3-year-old girl with primary hyperoxaluria type I. An examination one year before death disclosed a slightly diminished visual acuity in both...
North Carolina's dominant progressive foveal dystrophy: how progressive is it?
Small, K. W., Killian, J., McLean, W. C.
We studied 34 family members at risk of having dominant progressive foveal dystrophy of Lefler, Wadsworth, and Sidbury (also called North Carolina macular dystrophy) and found 17 to be affected....
Pericak-Vance, M A, Nunes, K J, Whisenant, E, Loeb, D B, Small, K W, Stajich, J M, ...
A genetic map of highly polymorphic microsatellite markers spanning the von Hippel-Lindau region (VHL) of 3p25 was constructed using the CEPH reference pedigrees. A greater than 1000:1 odds map of...