Semina EV - Search Results

1

CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements.

Ferre-Fernández JJ, Muheisen S, Thompson S, Semina EV. Ferre-Fernández JJ, et al. Among authors: semina ev. Hum Genomics. 2022 Oct 25;16(1):49. doi: 10.1186/s40246-022-00423-x. Hum Genomics. 2022. PMID: 36284357 Free PMC article.

2

Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues.

Semina EV, Mintz-Hittner HA, Murray JC. Semina EV, et al. Genomics. 2000 Jan 15;63(2):289-93. doi: 10.1006/geno.1999.6093. Genomics. 2000. PMID: 10673340

3

Using zebrafish to study the complex genetics of glaucoma.

McMahon C, Semina EV, Link BA. McMahon C, et al. Among authors: semina ev. Comp Biochem Physiol C Toxicol Pharmacol. 2004 Jul;138(3):343-50. doi: 10.1016/j.cca.2004.03.003. Comp Biochem Physiol C Toxicol Pharmacol. 2004. PMID: 15533792 Review.

4

MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens.

Sorokina EA, Muheisen S, Mlodik N, Semina EV. Sorokina EA, et al. Among authors: semina ev. PLoS One. 2011;6(6):e21122. doi: 10.1371/journal.pone.0021122. Epub 2011 Jun 17. PLoS One. 2011. PMID: 21698120 Free PMC article.

5

PITX2 and FOXC1 spectrum of mutations in ocular syndromes.

Reis LM, Tyler RC, Volkmann Kloss BA, Schilter KF, Levin AV, Lowry RB, Zwijnenburg PJ, Stroh E, Broeckel U, Murray JC, Semina EV. Reis LM, et al. Among authors: semina ev. Eur J Hum Genet. 2012 Dec;20(12):1224-33. doi: 10.1038/ejhg.2012.80. Epub 2012 May 9. Eur J Hum Genet. 2012. PMID: 22569110 Free PMC article.

6

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV. Reis LM, et al. Among authors: semina ev. Hum Genet. 2013 Jul;132(7):761-70. doi: 10.1007/s00439-013-1289-0. Epub 2013 Mar 19. Hum Genet. 2013. PMID: 23508780 Free PMC article. Clinical Trial.

7

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV. Deml B, et al. Among authors: semina ev. PLoS Genet. 2015 Feb 26;11(2):e1005002. doi: 10.1371/journal.pgen.1005002. eCollection 2015. PLoS Genet. 2015. PMID: 25719200 Free PMC article.

8

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

Deml B, Reis LM, Muheisen S, Bick D, Semina EV. Deml B, et al. Among authors: semina ev. Birth Defects Res A Clin Mol Teratol. 2015 Jul;103(7):630-40. doi: 10.1002/bdra.23397. Epub 2015 Jun 27. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 26118977 Free PMC article.

9

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. Reis LM, et al. Among authors: semina ev. Clin Genet. 2016 Oct;90(4):378-82. doi: 10.1111/cge.12816. Epub 2016 Jul 12. Clin Genet. 2016. PMID: 27272408 Free PMC article.

10

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. Protas ME, et al. Among authors: semina ev. Hum Mol Genet. 2017 Sep 15;26(18):3630-3638. doi: 10.1093/hmg/ddx251. Hum Mol Genet. 2017. PMID: 28911203 Free PMC article.

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