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Page 1
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.
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.
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.
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: semina ev. 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.
Genetics of anterior segment dysgenesis disorders.
Reis LM, Semina EV. Reis LM, et al. Among authors: semina ev. Curr Opin Ophthalmol. 2011 Sep;22(5):314-24. doi: 10.1097/ICU.0b013e328349412b. Curr Opin Ophthalmol. 2011. PMID: 21730847 Free PMC article. Review.
143 results