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Items: 9

1.

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome.

Weh E, Takeuchi H, Muheisen S, Haltiwanger RS, Semina EV.

PLoS One. 2017 Sep 19;12(9):e0184903. doi: 10.1371/journal.pone.0184903. eCollection 2017.

2.

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.

Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB.

Hum Mol Genet. 2017 Sep 15;26(18):3630-3638. doi: 10.1093/hmg/ddx251.

3.

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O, Ben-Omran T, Manning MA, Yesilyurt A, McCarty CA, Kitchner TE, Costakos D, Semina EV.

Mol Vis. 2016 Oct 17;22:1229-1238. eCollection 2016.

4.

Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.

Happ H, Weh E, Costakos D, Reis LM, Semina EV.

BMC Med Genet. 2016 Sep 8;17(1):64. doi: 10.1186/s12881-016-0316-0.

5.

8q21.11 microdeletion in two patients with syndromic peters anomaly.

Happ H, Schilter KF, Weh E, Reis LM, Semina EV.

Am J Med Genet A. 2016 Sep;170(9):2471-5. doi: 10.1002/ajmg.a.37840. Epub 2016 Jul 5. Review.

6.

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Reis LM, Tyler RC, Weh E, Hendee KE, Schilter KF, Phillips JA 3rd, Sequeira S, Schinzel A, Semina EV.

Clin Genet. 2016 Oct;90(4):378-82. doi: 10.1111/cge.12816. Epub 2016 Jul 12.

7.

Whole exome sequence analysis of Peters anomaly.

Weh E, Reis LM, Happ HC, Levin AV, Wheeler PG, David KL, Carney E, Angle B, Hauser N, Semina EV.

Hum Genet. 2014 Dec;133(12):1497-511. doi: 10.1007/s00439-014-1481-x. Epub 2014 Sep 3.

8.

Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Weh E, Reis LM, Tyler RC, Bick D, Rhead WJ, Wallace S, McGregor TL, Dills SK, Chao MC, Murray JC, Semina EV.

Clin Genet. 2014 Aug;86(2):142-8. doi: 10.1111/cge.12241. Epub 2013 Sep 17.

9.

Race- and sex-related differences in retinal thickness and foveal pit morphology.

Wagner-Schuman M, Dubis AM, Nordgren RN, Lei Y, Odell D, Chiao H, Weh E, Fischer W, Sulai Y, Dubra A, Carroll J.

Invest Ophthalmol Vis Sci. 2011 Feb 1;52(1):625-34. doi: 10.1167/iovs.10-5886. Print 2011 Jan.

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