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Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: andorf jl. Arch Ophthalmol. 2000 Apr;118(4):538-43. doi: 10.1001/archopht.118.4.538. Arch Ophthalmol. 2000. PMID: 10766140
Variations in the myocilin gene in patients with open-angle glaucoma.
Alward WL, Kwon YH, Khanna CL, Johnson AT, Hayreh SS, Zimmerman MB, Narkiewicz J, Andorf JL, Moore PA, Fingert JH, Sheffield VC, Stone EM. Alward WL, et al. Among authors: andorf jl. Arch Ophthalmol. 2002 Sep;120(9):1189-97. doi: 10.1001/archopht.120.9.1189. Arch Ophthalmol. 2002. PMID: 12215093
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: andorf jl. Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93. doi: 10.1073/pnas.0405496101. Epub 2004 Nov 11. Proc Natl Acad Sci U S A. 2004. PMID: 15539463 Free PMC article.
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, Sheffield VC, Tucker BA, Stone EM. Braun TA, et al. Among authors: andorf jl. Hum Mol Genet. 2013 Dec 20;22(25):5136-45. doi: 10.1093/hmg/ddt367. Epub 2013 Aug 4. Hum Mol Genet. 2013. PMID: 23918662 Free PMC article.
22 results