Semina EV - Search Results

1

In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.

Untaroiu A, Reis LM, Higgins BP, Walesa A, Zacharias S, Nikezic D, Costakos DM, Carroll J, Semina EV. Untaroiu A, et al. Among authors: semina ev. Invest Ophthalmol Vis Sci. 2024 Apr 1;65(4):20. doi: 10.1167/iovs.65.4.20. Invest Ophthalmol Vis Sci. 2024. PMID: 38587439 Free PMC article.

2

VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.

Mintz-Hittner HA, Semina EV, Frishman LJ, Prager TC, Murray JC. Mintz-Hittner HA, et al. Among authors: semina ev. Ophthalmology. 2004 Apr;111(4):828-36. doi: 10.1016/j.ophtha.2003.07.006. Ophthalmology. 2004. PMID: 15051220

3

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

Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE. Brooks BP, et al. Among authors: semina ev. Ophthalmic Genet. 2004 Mar;25(1):57-62. doi: 10.1076/opge.25.1.57.29002. Ophthalmic Genet. 2004. PMID: 15255117

4

Application of genetic approaches to ocular disease.

Ruttum MS, Reis LM, Semina EV. Ruttum MS, et al. Among authors: semina ev. Pediatr Clin North Am. 2006 Aug;53(4):751-65. doi: 10.1016/j.pcl.2006.05.010. Pediatr Clin North Am. 2006. PMID: 16873003 Review.

5

Mutation analysis of B3GALTL in Peters Plus syndrome.

Reis LM, Tyler RC, Abdul-Rahman O, Trapane P, Wallerstein R, Broome D, Hoffman J, Khan A, Paradiso C, Ron N, Bergner A, Semina EV. Reis LM, et al. Among authors: semina ev. Am J Med Genet A. 2008 Oct 15;146A(20):2603-10. doi: 10.1002/ajmg.a.32498. Am J Med Genet A. 2008. PMID: 18798333 Free PMC article.

6

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

Schneider A, Bardakjian T, Reis LM, Tyler RC, Semina EV. Schneider A, et al. Among authors: semina ev. Am J Med Genet A. 2009 Dec;149A(12):2706-15. doi: 10.1002/ajmg.a.33098. Am J Med Genet A. 2009. PMID: 19921648 Free PMC article.

7

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. Reis LM, et al. Among authors: semina ev. Am J Med Genet A. 2010 Mar;152A(3):582-90. doi: 10.1002/ajmg.a.33257. Am J Med Genet A. 2010. PMID: 20140963 Free PMC article.

8

Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.

Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV. Reis LM, et al. Among authors: semina ev. Mol Vis. 2010 Apr 28;16:768-73. Mol Vis. 2010. PMID: 20454695 Free PMC article.

9

OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype.

Schilter KF, Schneider A, Bardakjian T, Soucy JF, Tyler RC, Reis LM, Semina EV. Schilter KF, et al. Among authors: semina ev. Clin Genet. 2011 Feb;79(2):158-68. doi: 10.1111/j.1399-0004.2010.01450.x. Clin Genet. 2011. PMID: 20486942 Free PMC article.

10

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia.

Brémond-Gignac D, Bitoun P, Reis LM, Copin H, Murray JC, Semina EV. Brémond-Gignac D, et al. Among authors: semina ev. Mol Vis. 2010 Aug 22;16:1705-11. Mol Vis. 2010. PMID: 20806047 Free PMC article.

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