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Page 1
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.
Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Héon E. Vincent A, et al. Among authors: glaser t. J Med Genet. 2001 May;38(5):324-6. doi: 10.1136/jmg.38.5.324. J Med Genet. 2001. PMID: 11403040 Free PMC article. No abstract available.
3' deletions cause aniridia by preventing PAX6 gene expression.
Lauderdale JD, Wilensky JS, Oliver ER, Walton DS, Glaser T. Lauderdale JD, et al. Among authors: glaser t. Proc Natl Acad Sci U S A. 2000 Dec 5;97(25):13755-9. doi: 10.1073/pnas.240398797. Proc Natl Acad Sci U S A. 2000. PMID: 11087823 Free PMC article.
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T. Prasov L, et al. Among authors: glaser t. Hum Mol Genet. 2012 Aug 15;21(16):3681-94. doi: 10.1093/hmg/dds197. Epub 2012 May 29. Hum Mol Genet. 2012. PMID: 22645276 Free PMC article.
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.
Albakri A, Pisuchpen P, Capasso JE, Schneider A, Kopinsky S, Glaser T, Chiang JP, Yomai AA, McNear D, Levin AV. Albakri A, et al. Among authors: glaser t. Am J Med Genet A. 2023 Apr;191(4):1007-1012. doi: 10.1002/ajmg.a.63108. Epub 2023 Jan 3. Am J Med Genet A. 2023. PMID: 36595661 Free PMC article.
Comprehensive phenotypic and functional analysis of dominant and recessive FOXE3 alleles in ocular developmental disorders.
Reis LM, Sorokina EA, Dudakova L, Moravikova J, Skalicka P, Malinka F, Seese SE, Thompson S, Bardakjian T, Capasso J, Allen W, Glaser T, Levin AV, Schneider A, Khan A, Liskova P, Semina EV. Reis LM, et al. Among authors: glaser t. Hum Mol Genet. 2021 Aug 12;30(17):1591-1606. doi: 10.1093/hmg/ddab142. Hum Mol Genet. 2021. PMID: 34046667 Free PMC article.
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV. Reis LM, et al. J Med Genet. 2023 Apr;60(4):368-379. doi: 10.1136/jmg-2022-108646. Epub 2022 Jul 26. J Med Genet. 2023. PMID: 35882526 Free PMC article.
380 results