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1 - 25 of 78 results for author:"Allikmets R." in Literature citations

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Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

Sobrin L., Ripke S., Yu Y., Fagerness J., Bhangale T.R., Tan P.L., Souied E.H., Buitendijk G.H., Merriam J.E., Richardson A.J. et al.

Ophthalmology 119:1874-1885(2012) · Mapped (5)

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Burke T.R., Fishman G.A., Zernant J., Schubert C., Tsang S.H., Smith R.T., Ayyagari R., Koenekoop R.K., Umfress A., Ciccarelli M.L. et al.

Invest. Ophthalmol. Vis. Sci. 53:4458-4467(2012) · Mapped (8)

Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration.

Baas D.C., Ho L., Tanck M.W., Fritsche L.G., Merriam J.E., van het Slot R., Koeleman B.P., Gorgels T.G., van Duijn C.M., Uitterlinden A.G. et al.

Mol. Vis. 18:657-674(2012) · Mapped (6)

Familial discordance in Stargardt disease.

Burke T.R., Tsang S.H., Zernant J., Smith R.T., Allikmets R.

Mol. Vis. 18:227-233(2012) · Mapped (8)

Disruption in Bruch membrane in patients with Stargardt disease.

Park S.P., Chang S., Allikmets R., Smith R.T., Burke T.R., Gregory-Roberts E., Tsang S.H.

Ophthalmic Genet. 33:49-52(2012) · Mapped (8)

Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.

Chen R.W., Greenberg J.P., Lazow M.A., Ramachandran R., Lima L.H., Hwang J.C., Schubert C., Braunstein A., Allikmets R., Tsang S.H.

Am. J. Ophthalmol. 153:143-54.e2(2012) · Mapped (2)

Analysis of the ABCA4 gene by next-generation sequencing.

Zernant J., Schubert C., Im K.M., Burke T., Brown C.M., Fishman G.A., Tsang S.H., Gouras P., Dean M., Allikmets R.

Invest. Ophthalmol. Vis. Sci. 52:8479-8487(2011) · Mapped (8)

Complement factor H 402H variant and reticular macular disease.

Smith R.T., Merriam J.E., Sohrab M.A., Pumariega N.M., Barile G., Blonska A.M., Haans R., Madigan D., Allikmets R.

Arch. Ophthalmol. 129:1061-1066(2011) · Mapped (5)

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

Yu Y., Bhangale T.R., Fagerness J., Ripke S., Thorleifsson G., Tan P.L., Souied E.H., Richardson A.J., Merriam J.E., Buitendijk G.H. et al.

Hum. Mol. Genet. 20:3699-3709(2011) · Mapped (13)

Elastin rs2301995 polymorphism is not associated with polypoidal choroidal vasculopathy in caucasians.

Lima L.H., Merriam J.E., Freund K.B., Barbazetto I.A., Spaide R.F., Yannuzzi L.A., Allikmets R.

Ophthalmic Genet. 32:80-82(2011) · Mapped (14)

The ERCC6 gene and age-related macular degeneration.

Baas D.C., Despriet D.D., Gorgels T.G., Bergeron-Sawitzke J., Uitterlinden A.G., Hofman A., van Duijn C.M., Merriam J.E., Smith R.T., Barile G.R. et al.

PLoS ONE 5:e13786-e13786(2010) · Mapped (5)

Loss of peripapillary sparing in non-group I Stargardt disease.

Burke T.R., Allikmets R., Smith R.T., Gouras P., Tsang S.H.

Exp. Eye Res. 91:592-600(2010) · Mapped (8)

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).

Neale B.M., Fagerness J., Reynolds R., Sobrin L., Parker M., Raychaudhuri S., Tan P.L., Oh E.C., Merriam J.E., Souied E. et al.

Proc. Natl. Acad. Sci. U.S.A. 107:7395-7400(2010) · Mapped (24)

Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.

Lima L.H., Schubert C., Ferrara D.C., Merriam J.E., Imamura Y., Freund K.B., Spaide R.F., Yannuzzi L.A., Allikmets R.

Ophthalmology 117:1567-1570(2010) · Mapped (27)

The complement component 5 gene and age-related macular degeneration.

Baas D.C., Ho L., Ennis S., Merriam J.E., Tanck M.W., Uitterlinden A.G., de Jong P.T., Cree A.J., Griffiths H.L., Rivadeneira F. et al.

Ophthalmology 117:500-511(2010) · Mapped (3)

The natural history of stargardt disease with specific sequence mutation in the ABCA4 gene.

Genead M.A., Fishman G.A., Stone E.M., Allikmets R.

Invest. Ophthalmol. Vis. Sci. 50:5867-5871(2009) · Mapped (8)

Multilocus analysis of age-related macular degeneration.

Bergeron-Sawitzke J., Gold B., Olsh A., Schlotterbeck S., Lemon K., Visvanathan K., Allikmets R., Dean M.

Eur. J. Hum. Genet. 17:1190-1199(2009) · Mapped (35)

G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.

Cella W., Greenstein V.C., Zernant-Rajang J., Smith T.R., Barile G., Allikmets R., Tsang S.H.

Exp. Eye Res. 89:16-24(2009) · Mapped (8)

Phenotypic features of patients with NR2E3 mutations.

Pachydaki S.I., Klaver C.C., Barbazetto I.A., Roy M.S., Gouras P., Allikmets R., Yannuzzi L.A.

Arch. Ophthalmol. 127:71-75(2009) · Mapped (5)

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Escher P., Gouras P., Roduit R., Tiab L., Bolay S., Delarive T., Chen S., Tsai C.C., Hayashi M., Zernant J. et al.

Hum. Mutat. 30:342-351(2009) · UniProtKB (1) · Mapped (4)

Analysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H.

Ferrara D.C., Merriam J.E., Freund K.B., Spaide R.F., Takahashi B.S., Zhitomirsky I., Fine H.F., Yannuzzi L.A., Allikmets R.

Arch. Ophthalmol. 126:1562-1566(2008) · Mapped (9)

Peripapillary atrophy in Stargardt disease.

Hwang J.C., Zernant J., Allikmets R., Barile G.R., Chang S., Smith R.T.

Retina (Philadelphia, Pa.) 29:181-186(2009) · Mapped (8)

A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

Tsang S.H., Tsui I., Chou C.L., Zernant J., Haamer E., Iranmanesh R., Tosi J., Allikmets R.

Am. J. Ophthalmol. 146:780-788(2008) · Mapped (3)

Phenotypic expression of a PRPF8 gene mutation in a Large African American family.

Walia S., Fishman G.A., Zernant-Rajang J., Raime K., Allikmets R.

Arch. Ophthalmol. 126:1127-1132(2008) · Mapped (5)

ATM gene variants in patients with idiopathic perifoveal telangiectasia.

Barbazetto I.A., Room M., Yannuzzi N.A., Barile G.R., Merriam J.E., Bardal A.M., Freund K.B., Yannuzzi L.A., Allikmets R.

Invest. Ophthalmol. Vis. Sci. 49:3806-3811(2008) · Mapped (8)

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