Glaser TM - Search Results

1

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. Among authors: glaser tm. 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.

2

Further support of the role of CYP1B1 in patients with Peters anomaly.

Vincent A, Billingsley G, Priston M, Glaser T, Oliver E, Walter M, Ritch R, Levin A, Heon E. Vincent A, et al. Mol Vis. 2006 May 16;12:506-10. Mol Vis. 2006. PMID: 16735991 Free article.

3

Analysis of FOXD3 sequence variation in human ocular disease.

Kloss BA, Reis LM, Brémond-Gignac D, Glaser T, Semina EV. Kloss BA, et al. Mol Vis. 2012;18:1740-9. Epub 2012 Jun 27. Mol Vis. 2012. PMID: 22815627 Free PMC article.

4

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. Hum Mol Genet. 2021 Aug 12;30(17):1591-1606. doi: 10.1093/hmg/ddab142. Hum Mol Genet. 2021. PMID: 34046667 Free PMC article.

5

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. 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.

6

NAA10 polyadenylation signal variants cause syndromic microphthalmia.

Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: glaser tm. J Med Genet. 2019 Jul;56(7):444-452. doi: 10.1136/jmedgenet-2018-105836. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842225 Free PMC article.

7

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. 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.

8

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. 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.

9

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ. Slavotinek AM, et al. Hum Mol Genet. 2013 Feb 15;22(4):696-703. doi: 10.1093/hmg/dds477. Epub 2012 Nov 16. Hum Mol Genet. 2013. PMID: 23161670 Free PMC article.

10

Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease.

Chou CM, Nelson C, Tarlé SA, Pribila JT, Bardakjian T, Woods S, Schneider A, Glaser T. Chou CM, et al. Cell. 2015 Apr 23;161(3):634-646. doi: 10.1016/j.cell.2015.03.006. Cell. 2015. PMID: 25910211 Free PMC article.

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