Streb LM - Search Results

1

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Stone EM, et al. Among authors: streb lm. Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27. Ophthalmology. 2017. PMID: 28559085 Free PMC article.

2

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.

Small KW, DeLuca AP, Whitmore SS, Rosenberg T, Silva-Garcia R, Udar N, Puech B, Garcia CA, Rice TA, Fishman GA, Héon E, Folk JC, Streb LM, Haas CM, Wiley LA, Scheetz TE, Fingert JH, Mullins RF, Tucker BA, Stone EM. Small KW, et al. Among authors: streb lm. Ophthalmology. 2016 Jan;123(1):9-18. doi: 10.1016/j.ophtha.2015.10.006. Epub 2015 Oct 24. Ophthalmology. 2016. PMID: 26507665 Free PMC article.

3

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: streb lm. 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.

4

LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States.

Fingert JH, Alward WL, Kwon YH, Wang K, Streb LM, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: streb lm. Am J Ophthalmol. 2007 Dec;144(6):974-975. doi: 10.1016/j.ajo.2007.09.034. Am J Ophthalmol. 2007. PMID: 18036875 No abstract available.

5

Patient-specific iPSC-derived photoreceptor precursor cells as a means to investigate retinitis pigmentosa.

Tucker BA, Mullins RF, Streb LM, Anfinson K, Eyestone ME, Kaalberg E, Riker MJ, Drack AV, Braun TA, Stone EM. Tucker BA, et al. Among authors: streb lm. Elife. 2013 Aug 27;2:e00824. doi: 10.7554/eLife.00824. Elife. 2013. PMID: 23991284 Free PMC article.

6

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. Among authors: streb lm. Nat Genet. 1992 Jul;1(4):246-50. doi: 10.1038/ng0792-246. Nat Genet. 1992. PMID: 1302019

7

Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.

Allen RC, Russell SR, Streb LM, Alsheikheh A, Stone EM. Allen RC, et al. Among authors: streb lm. Eye (Lond). 2006 Feb;20(2):234-41. doi: 10.1038/sj.eye.6701840. Eye (Lond). 2006. PMID: 15776010

8

Elevated membrane attack complex in human choroid with high risk complement factor H genotypes.

Mullins RF, Dewald AD, Streb LM, Wang K, Kuehn MH, Stone EM. Mullins RF, et al. Among authors: streb lm. Exp Eye Res. 2011 Oct;93(4):565-7. doi: 10.1016/j.exer.2011.06.015. Epub 2011 Jun 26. Exp Eye Res. 2011. PMID: 21729696 Free PMC article.

9

Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.

Oh KT, Oh DM, Weleber RG, Stone EM, Parikh A, White J, Deboer-Shields KA, Streb L, Vallar C. Oh KT, et al. Br J Ophthalmol. 2004 Dec;88(12):1533-7. doi: 10.1136/bjo.2004.043653. Br J Ophthalmol. 2004. PMID: 15548806 Free PMC article.

10

De novo mutation in a choroideremia carrier.

Bozbeyoglu S, Fishman GA, Stone EM, MacDonald IM, Streb LM. Bozbeyoglu S, et al. Among authors: streb lm. Retin Cases Brief Rep. 2007 Summer;1(3):182-4. doi: 10.1097/ICB.0b013e31804d1de0. Retin Cases Brief Rep. 2007. PMID: 25390790

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