Stone EM - Search Results

1

Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial.

Tucker BA, Cranston CM, Anfinson KA, Shrestha S, Streb LM, Leon A, Mullins RF, Stone EM. Tucker BA, et al. Among authors: stone em. Transl Res. 2015 Dec;166(6):740-749.e1. doi: 10.1016/j.trsl.2015.08.007. Epub 2015 Aug 29. Transl Res. 2015. PMID: 26364624 Free PMC article.

2

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.

Stone EM, Kimura AE, Folk JC, Bennett SR, Nichols BE, Streb LM, Sheffield VC. Stone EM, et al. Hum Mol Genet. 1992 Dec;1(9):685-9. doi: 10.1093/hmg/1.9.685. Hum Mol Genet. 1992. PMID: 1284594

3

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.

Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. Stone EM, et al. Nat Genet. 1992 Jul;1(4):246-50. doi: 10.1038/ng0792-246. Nat Genet. 1992. PMID: 1302019

4

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).

Héon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM, Alward WL, Sheffield VC, Stone EM. Héon E, et al. Among authors: stone em. Hum Mol Genet. 1995 Aug;4(8):1435-9. doi: 10.1093/hmg/4.8.1435. Hum Mol Genet. 1995. PMID: 7581385

5

Three autosomal dominant corneal dystrophies map to chromosome 5q.

Stone EM, Mathers WD, Rosenwasser GO, Holland EJ, Folberg R, Krachmer JH, Nichols BE, Gorevic PD, Taylor CM, Streb LM, et al. Stone EM, et al. Nat Genet. 1994 Jan;6(1):47-51. doi: 10.1038/ng0194-47. Nat Genet. 1994. PMID: 8136834

6

Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.

Sheffield VC, Stone EM, Alward WL, Drack AV, Johnson AT, Streb LM, Nichols BE. Sheffield VC, et al. Among authors: stone em. Nat Genet. 1993 May;4(1):47-50. doi: 10.1038/ng0593-47. Nat Genet. 1993. PMID: 8513321

7

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. Haider NB, et al. Among authors: stone em. Nat Genet. 2000 Feb;24(2):127-31. doi: 10.1038/72777. Nat Genet. 2000. PMID: 10655056

8

Visual outcome following subretinal hemorrhage in Best disease.

Chung MM, Oh KT, Streb LM, Kimura AE, Stone EM. Chung MM, et al. Among authors: stone em. Retina. 2001;21(6):575-80. doi: 10.1097/00006982-200112000-00003. Retina. 2001. PMID: 11756879

9

Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.

Lotery AJ, Derksen TA, Russell SR, Mullins RF, Sauter S, Affatigato LM, Stone EM, Davidson BL. Lotery AJ, et al. Among authors: stone em. Hum Gene Ther. 2002 Apr 10;13(6):689-96. doi: 10.1089/104303402317322258. Hum Gene Ther. 2002. PMID: 11936968

10

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: stone em. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118255

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