Tyler RC - Search Results

1

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: tyler rc. 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.

2

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: tyler rc. 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.

3

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: tyler rc. 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.

4

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: tyler rc. Mol Vis. 2010 Apr 28;16:768-73. Mol Vis. 2010. PMID: 20454695 Free PMC article.

5

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: tyler rc. 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.

6

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome.

Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. Reis LM, et al. Among authors: tyler rc. Hum Genet. 2011 Oct;130(4):495-504. doi: 10.1007/s00439-011-0968-y. Epub 2011 Feb 22. Hum Genet. 2011. PMID: 21340693 Free PMC article.

7

VSX2 mutations in autosomal recessive microphthalmia.

Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV. Reis LM, et al. Among authors: tyler rc. Mol Vis. 2011;17:2527-32. Epub 2011 Sep 28. Mol Vis. 2011. PMID: 21976963 Free PMC article.

8

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: tyler rc. 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.

9

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: tyler rc. 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.

10

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. Weh E, et al. Among authors: tyler rc. Clin Genet. 2014 Aug;86(2):142-8. doi: 10.1111/cge.12241. Epub 2013 Sep 17. Clin Genet. 2014. PMID: 23889335 Free PMC article.

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