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12 results for author:"Moroi S.E." in Literature citations

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Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

NEIGHBOR Consortium
Lu Y., Vitart V., Burdon K.P., Khor C.C., Bykhovskaya Y., Mirshahi A., Hewitt A.W., Koehn D., Hysi P.G., Ramdas W.D. et al.

Nat. Genet. 45:155-163(2013) · Mapped (2)

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Ulmer M., Li J., Yaspan B.L., Ozel A.B., Richards J.E., Moroi S.E., Hawthorne F., Budenz D.L., Friedman D.S., Gaasterland D. et al.

Invest. Ophthalmol. Vis. Sci. 53:4468-4474(2012) · Mapped (10)

Variation in optineurin (OPTN) allele frequencies between and within populations.

Ayala-Lugo R.M., Pawar H., Reed D.M., Lichter P.R., Moroi S.E., Page M., Eadie J., Azocar V., Maul E., Ntim-Amponsah C. et al.

Mol. Vis. 13:151-163(2007) · Mapped (3)

Evaluation of the beta2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations.

McLaren N., Reed D.M., Musch D.C., Downs C.A., Higashi M.E., Santiago C., Radenbaugh P.A., Allingham R.R., Richards J.E., Moroi S.E.

Arch. Ophthalmol. 125:105-111(2007) · Mapped (2)

CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion.

Mandal M.N., Vasireddy V., Reddy G.B., Wang X., Moroi S.E., Pattnaik B.R., Hughes B.A., Heckenlively J.R., Hitchcock P.F., Jablonski M.M. et al.

Invest. Ophthalmol. Vis. Sci. 47:5505-5513(2006) · Mapped (17)

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

Krafchak C.M., Pawar H., Moroi S.E., Sugar A., Lichter P.R., Mackey D.A., Mian S., Nairus T., Elner V., Schteingart M.T. et al.

Am. J. Hum. Genet. 77:694-708(2005) · UniProtKB (1)

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.

Zareparsi S., Buraczynska M., Branham K.E.H., Shah S., Eng D., Li M., Pawar H., Yashar B.M., Moroi S.E., Lichter P.R. et al.

Hum. Mol. Genet. 14:1449-1455(2005) · UniProtKB (1) · Mapped (13)

A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome.

Brooks B.P., Moroi S.E., Downs C.A., Wiltse S., Othman M.I., Semina E.V., Richards J.E.

Ophthalmic Genet. 25:57-62(2004) · Mapped (2)

Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy.

Moroi S.E., Gokhale P.A., Schteingart M.T., Sugar A., Downs C.A., Shimizu S., Krafchak C., Fuse N., Elner S.G., Elner V.M. et al.

Am. J. Ophthalmol. 135:461-470(2003) · Mapped (2)

Characterization of a stapes ankylosis family with a NOG mutation.

Brown D.J., Kim T.B., Petty E.M., Downs C.A., Martin D.M., Strouse P.J., Moroi S.E., Gebarski S.S., Lesperance M.M.

Otol. Neurotol. 24:210-215(2003) · Mapped (2)

Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

Brown D.J., Kim T.B., Petty E.M., Downs C.A., Martin D.M., Strouse P.J., Moroi S.E., Milunsky J.M., Lesperance M.M.

Am. J. Hum. Genet. 71:618-624(2002) · UniProtKB (1) · Mapped (1)

Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

Shimizu S., Lichter P.R., Johnson A.T., Zhou Z., Higashi M., Gottfredsdottir M., Othman M., Moroi S.E., Rozsa F.W., Schertzer R.M. et al.

Am. J. Ophthalmol. 130:165-177(2000) · UniProtKB (1)

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