Adam P. Sorensen

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Mutations in the aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) gene have been found in patients with Leber congenital amaurosis (LCA), a severe, early-onset form of retinal degeneration. To determine the normal function of AIPL1 and to better understand how mutations in this gene cause disease, we performed a yeast two-hybrid screen to(More)
A significant minority of degenerative dementias lack distinctive inclusion bodies, plagues or tangles on pathological examination. Half of these cases have a positive family history of dementia. We have studied the largest published family with such a dementia and mapped the disease locus to a 12 cM region of chromosome 3 spanning the centromere. Haplotype(More)
Basal cell nevus syndrome (BCNS) is a rare autosomal dominant condition best known for the development of early and multiple basal cell carcinomas (BCCs). Because the condition requires lifetime surveillance for new cancers, an efficient method of identification and treatment is desirable, especially in children. Dermoscopy and carbon dioxide laser have(More)
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