Semina EV - Search Results

1

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.

Reis LM, Costakos D, Wheeler PG, Bardakjian T, Schneider A, Fung SSM; University of Washington Center for Mendelian Genomics; Semina EV. Reis LM, et al. Among authors: semina ev. Clin Genet. 2021 Mar;99(3):437-442. doi: 10.1111/cge.13897. Epub 2020 Dec 16. Clin Genet. 2021. PMID: 33314030 Free PMC article.

2

A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD.

Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC. Semina EV, et al. Nat Genet. 1998 Jun;19(2):167-70. doi: 10.1038/527. Nat Genet. 1998. PMID: 9620774

3

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.

4

Mutations in laminin alpha 1 result in complex, lens-independent ocular phenotypes in zebrafish.

Semina EV, Bosenko DV, Zinkevich NC, Soules KA, Hyde DR, Vihtelic TS, Willer GB, Gregg RG, Link BA. Semina EV, et al. Dev Biol. 2006 Nov 1;299(1):63-77. doi: 10.1016/j.ydbio.2006.07.005. Epub 2006 Jul 12. Dev Biol. 2006. PMID: 16973147 Free article.

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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