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Results: 1 to 20 of 165

1.

The External Limiting Membrane in Early-Onset Stargardt Disease.

Lee W, Noupuu K, Oll M, Duncker T, Burke TR, Zernant J, Bearelly S, Tsang SH, Sparrow JR, Allikmets R.

Invest Ophthalmol Vis Sci. 2014 Aug 19. pii: IOVS-14-15126. doi: 10.1167/iovs.14-15126. [Epub ahead of print]

PMID:
25139735
[PubMed - as supplied by publisher]
2.

Analysis of the ABCA4 genomic locus in Stargardt disease.

Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R.

Hum Mol Genet. 2014 Jul 31. pii: ddu396. [Epub ahead of print]

PMID:
25082829
[PubMed - as supplied by publisher]
3.

Choroidal and Retinal Thickening in Severe Preeclampsia.

Garg A, Wapner RJ, Ananth CV, Dale E, Tsang SH, Lee W, Allikmets R, Bearelly S.

Invest Ophthalmol Vis Sci. 2014 Jul 29. pii: IOVS-14-14143. doi: 10.1167/iovs.14-14143. [Epub ahead of print]

PMID:
25074772
[PubMed - as supplied by publisher]
4.

Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients.

Zernant J, Collison FT, Lee W, Fishman GA, Noupuu K, Yuan B, Cai C, Lupski JR, Yannuzzi LA, Tsang SH, Allikmets R.

Hum Mutat. 2014 Jul 27. doi: 10.1002/humu.22626. [Epub ahead of print]

PMID:
25066811
[PubMed - as supplied by publisher]
5.

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

Xie YA, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R.

Hum Mol Genet. 2014 Jun 10. pii: ddu291. [Epub ahead of print]

PMID:
24916380
[PubMed - as supplied by publisher]
6.

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A.

Hum Mol Genet. 2014 Jun 4. pii: ddu276. [Epub ahead of print]

PMID:
24899048
[PubMed - as supplied by publisher]
7.

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype.

Tsang SH, Burke T, Oll M, Yzer S, Lee W, Xie YA, Allikmets R.

Ophthalmology. 2014 May 6. pii: S0161-6420(14)00234-6. doi: 10.1016/j.ophtha.2014.03.010. [Epub ahead of print]

PMID:
24811962
[PubMed - as supplied by publisher]
8.

Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.

Bertelsen M, Zernant J, Larsen M, Duno M, Allikmets R, Rosenberg T.

Invest Ophthalmol Vis Sci. 2014 Apr 29;55(4):2766-76. doi: 10.1167/iovs.13-13391.

PMID:
24713488
[PubMed - indexed for MEDLINE]
9.

PSYCHOPHYSICAL MEASUREMENT OF ROD AND CONE THRESHOLDS IN STARGARDT DISEASE WITH FULL-FIELD STIMULI.

Collison FT, Fishman GA, McAnany JJ, Zernant J, Allikmets R.

Retina. 2014 Apr 1. [Epub ahead of print]

PMID:
24695063
[PubMed - as supplied by publisher]
10.

Quantitative fundus autofluorescence in recessive Stargardt disease.

Burke TR, Duncker T, Woods RL, Greenberg JP, Zernant J, Tsang SH, Smith RT, Allikmets R, Sparrow JR, Delori FC.

Invest Ophthalmol Vis Sci. 2014 May 1;55(5):2841-52. doi: 10.1167/iovs.13-13624.

PMID:
24677105
[PubMed - indexed for MEDLINE]
11.

Cadherin 5 is regulated by corticosteroids and associated with central serous chorioretinopathy.

Schubert C, Pryds A, Zeng S, Xie Y, Freund KB, Spaide RF, Merriam JC, Barbazetto I, Slakter JS, Chang S, Munch IC, Drack AV, Hernandez J, Yzer S, Merriam JE, Linneberg A, Larsen M, Yannuzzi LA, Mullins RF, Allikmets R.

Hum Mutat. 2014 Jul;35(7):859-67. doi: 10.1002/humu.22551.

PMID:
24665005
[PubMed - in process]
12.

Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.

Nong E, Lee W, Merriam JE, Allikmets R, Tsang SH.

Doc Ophthalmol. 2014 Feb;128(1):59-67. doi: 10.1007/s10633-013-9420-z. Epub 2013 Dec 19.

PMID:
24352742
[PubMed - indexed for MEDLINE]
13.

Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy.

Fung A, Yzer S, Allikmets R.

JAMA Ophthalmol. 2013 Dec;131(12):1651. doi: 10.1001/jamaophthalmol.2013.5363. No abstract available.

PMID:
24337562
[PubMed - indexed for MEDLINE]
14.

The value of retinal imaging with infrared scanning laser ophthalmoscopy in patients with stargardt disease.

Chun R, Fishman GA, Collison FT, Stone EM, Zernant J, Allikmets R.

Retina. 2014 Jul;34(7):1391-9. doi: 10.1097/IAE.0000000000000070.

PMID:
24317291
[PubMed - in process]
15.

Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.

Duncker T, Lee W, Tsang SH, Greenberg JP, Zernant J, Allikmets R, Sparrow JR.

Invest Ophthalmol Vis Sci. 2013 Oct 17;54(10):6820-6. doi: 10.1167/iovs.13-12895.

PMID:
24071957
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Fine central macular dots associated with childhood-onset Stargardt Disease.

Fujinami K, Singh R, Carroll J, Zernant J, Allikmets R, Michaelides M, Moore AT.

Acta Ophthalmol. 2014 Mar;92(2):e157-9. doi: 10.1111/aos.12259. Epub 2013 Sep 11. No abstract available.

PMID:
24020726
[PubMed - indexed for MEDLINE]
17.

Expanded clinical spectrum of enhanced S-cone syndrome.

Yzer S, Barbazetto I, Allikmets R, van Schooneveld MJ, Bergen A, Tsang SH, Jacobson SG, Yannuzzi LA.

JAMA Ophthalmol. 2013 Oct;131(10):1324-30. doi: 10.1001/jamaophthalmol.2013.4349.

PMID:
23989059
[PubMed - indexed for MEDLINE]
18.

ABCA4 gene screening by next-generation sequencing in a British cohort.

Fujinami K, Zernant J, Chana RK, Wright GA, Tsunoda K, Ozawa Y, Tsubota K, Webster AR, Moore AT, Allikmets R, Michaelides M.

Invest Ophthalmol Vis Sci. 2013 Oct 11;54(10):6662-74. doi: 10.1167/iovs.13-12570.

PMID:
23982839
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C.

Ophthalmology. 2013 Nov;120(11):2332-7. doi: 10.1016/j.ophtha.2013.04.002. Epub 2013 Jun 4.

PMID:
23755871
[PubMed - indexed for MEDLINE]
20.

Transduction of photoreceptors with equine infectious anemia virus lentiviral vectors: safety and biodistribution of StarGen for Stargardt disease.

Binley K, Widdowson P, Loader J, Kelleher M, Iqball S, Ferrige G, de Belin J, Carlucci M, Angell-Manning D, Hurst F, Ellis S, Miskin J, Fernandes A, Wong P, Allikmets R, Bergstrom C, Aaberg T, Yan J, Kong J, Gouras P, Prefontaine A, Vezina M, Bussieres M, Naylor S, Mitrophanous KA.

Invest Ophthalmol Vis Sci. 2013 Jun 12;54(6):4061-71. doi: 10.1167/iovs.13-11871.

PMID:
23620430
[PubMed - indexed for MEDLINE]
Free PMC Article

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