Roos BR - Search Results

1

LADD syndrome with glaucoma is caused by a novel gene.

Simpson A, Avdic A, Roos BR, DeLuca A, Miller K, Schnieders MJ, Scheetz TE, Alward WL, Fingert JH. Simpson A, et al. Among authors: roos br. Mol Vis. 2017 Mar 30;23:179-184. eCollection 2017. Mol Vis. 2017. PMID: 28400699 Free PMC article.

2

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.

Alward WL, Kwon YH, Kawase K, Craig JE, Hayreh SS, Johnson AT, Khanna CL, Yamamoto T, Mackey DA, Roos BR, Affatigato LM, Sheffield VC, Stone EM. Alward WL, et al. Among authors: roos br. Am J Ophthalmol. 2003 Nov;136(5):904-10. doi: 10.1016/s0002-9394(03)00577-4. Am J Ophthalmol. 2003. PMID: 14597044

3

Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.

Grassi MA, Fingert JH, Scheetz TE, Roos BR, Ritch R, West SK, Kawase K, Shire AM, Mullins RF, Stone EM. Grassi MA, et al. Among authors: roos br. Hum Mutat. 2006 Sep;27(9):921-5. doi: 10.1002/humu.20359. Hum Mutat. 2006. PMID: 16865697

4

Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.

Shah SS, Al-Rajhi A, Brandt JD, Mannis MJ, Roos B, Sheffield VC, Syed NA, Stone EM, Fingert JH. Shah SS, et al. Ophthalmic Genet. 2008 Mar;29(1):41-5. doi: 10.1080/13816810701850033. Ophthalmic Genet. 2008. PMID: 18363173

5

Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.

Fingert JH, Roos B, Eyestone ME, Pham JD, Mellot ML, Stone E. Fingert JH, et al. Ophthalmic Genet. 2010 Jun;31(2):77-80. doi: 10.3109/13816810903584989. Ophthalmic Genet. 2010. PMID: 20450309

6

Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy.

Rosenberg T, Roos B, Johnsen T, Bech N, Scheetz TE, Larsen M, Stone EM, Fingert JH. Rosenberg T, et al. Mol Vis. 2010 Dec 9;16:2659-68. Mol Vis. 2010. PMID: 21179233 Free PMC article.

7

Chromosome 7q31 POAG locus: ocular expression of caveolins and lack of association with POAG in a US cohort.

Kuehn MH, Wang K, Roos B, Stone EM, Kwon YH, Alward WL, Mullins RF, Fingert JH. Kuehn MH, et al. Mol Vis. 2011 Feb 8;17:430-5. Mol Vis. 2011. PMID: 21321670 Free PMC article.

8

Copy number variations on chromosome 12q14 in patients with normal tension glaucoma.

Fingert JH, Robin AL, Stone JL, Roos BR, Davis LK, Scheetz TE, Bennett SR, Wassink TH, Kwon YH, Alward WL, Mullins RF, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: roos br. Hum Mol Genet. 2011 Jun 15;20(12):2482-94. doi: 10.1093/hmg/ddr123. Epub 2011 Mar 29. Hum Mol Genet. 2011. PMID: 21447600 Free PMC article.

9

Confirmation of TBK1 duplication in normal tension glaucoma.

Kawase K, Allingham RR, Meguro A, Mizuki N, Roos B, Solivan-Timpe FM, Robin AL, Ritch R, Fingert JH. Kawase K, et al. Exp Eye Res. 2012 Mar;96(1):178-80. doi: 10.1016/j.exer.2011.12.021. Epub 2012 Jan 2. Exp Eye Res. 2012. PMID: 22306015 Free PMC article. No abstract available.

10

Localization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucoma.

Mao M, Solivan-Timpe F, Roos BR, Mullins RF, Oetting TA, Kwon YH, Brzeskiewicz PM, Stone EM, Alward WL, Anderson MG, Fingert JH. Mao M, et al. Among authors: roos br. Mol Vis. 2012;18:705-13. Epub 2012 Mar 26. Mol Vis. 2012. PMID: 22509100 Free PMC article.

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