Semina EV - Search Results

1

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.

Reis LM, Sorokina EA, Thompson S, Muheisen S, Velinov M, Zamora C, Aylsworth AS, Semina EV. Reis LM, et al. Among authors: semina ev. Am J Hum Genet. 2019 Aug 1;105(2):425-433. doi: 10.1016/j.ajhg.2019.06.015. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327510 Free PMC article.

2

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.

3

Functional analysis of human mutations in homeodomain transcription factor PITX3.

Sakazume S, Sorokina E, Iwamoto Y, Semina EV. Sakazume S, et al. Among authors: semina ev. BMC Mol Biol. 2007 Sep 21;8:84. doi: 10.1186/1471-2199-8-84. BMC Mol Biol. 2007. PMID: 17888164 Free PMC article.

4

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.

5

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.

6

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.

7

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.

8

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.

9

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.

10

Potential novel mechanism for Axenfeld-Rieger syndrome: deletion of a distant region containing regulatory elements of PITX2.

Volkmann BA, Zinkevich NS, Mustonen A, Schilter KF, Bosenko DV, Reis LM, Broeckel U, Link BA, Semina EV. Volkmann BA, et al. Among authors: semina ev. Invest Ophthalmol Vis Sci. 2011 Mar 18;52(3):1450-9. doi: 10.1167/iovs.10-6060. Print 2011 Mar. Invest Ophthalmol Vis Sci. 2011. PMID: 20881290 Free PMC article.

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