Al-Rajhi A - Search Results

1

Of mice and men: tyrosinase modification of congenital glaucoma in mice but not in humans.

Bidinost C, Hernandez N, Edward DP, Al-Rajhi A, Lewis RA, Lupski JR, Stockton DW, Bejjani BA. Bidinost C, et al. Invest Ophthalmol Vis Sci. 2006 Apr;47(4):1486-90. doi: 10.1167/iovs.05-0763. Invest Ophthalmol Vis Sci. 2006. PMID: 16565383

2

Molecular basis of Peters anomaly in Saudi Arabia.

Edward D, Al Rajhi A, Lewis RA, Curry S, Wang Z, Bejjani B. Edward D, et al. Ophthalmic Genet. 2004 Dec;25(4):257-70. doi: 10.1080/13816810490902648. Ophthalmic Genet. 2004. PMID: 15621878

3

A novel locus for Leber congenital amaurosis on chromosome 14q24.

Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR. Stockton DW, et al. Hum Genet. 1998 Sep;103(3):328-33. doi: 10.1007/s004390050825. Hum Genet. 1998. PMID: 9799089

4

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R. Wang X, et al. Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23. Hum Mutat. 2011. PMID: 21901789 Free PMC article.

5

Exome capture sequencing identifies a novel mutation in BBS4.

Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, Wei Y, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Gibbs RA, Perkins BD, Chen R. Wang H, et al. Mol Vis. 2011;17:3529-40. Epub 2011 Dec 30. Mol Vis. 2011. PMID: 22219648 Free PMC article.

6

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R. Wang H, et al. Am J Hum Genet. 2009 Mar;84(3):380-7. doi: 10.1016/j.ajhg.2009.02.005. Epub 2009 Mar 5. Am J Hum Genet. 2009. PMID: 19268277 Free PMC article.

7

Pigmented hypopyon in association with Listeria monocytogenes endopthalmitis: an interesting case report following refractive surgery procedure with literature review.

Alkatan HM, Al-Dhibi HA, Edward DP, Al-Rajhi AA. Alkatan HM, et al. Middle East Afr J Ophthalmol. 2014 Jan-Mar;21(1):40-3. doi: 10.4103/0974-9233.124090. Middle East Afr J Ophthalmol. 2014. PMID: 24669144 Free PMC article. Review.

8

Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.

Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Katsanis N, et al. Clin Genet. 2001 Jun;59(6):424-9. doi: 10.1034/j.1399-0004.2001.590607.x. Clin Genet. 2001. PMID: 11453974

9

Analysis and comparison of proteomic profiles of tear fluid from human, cow, sheep, and camel eyes.

Shamsi FA, Chen Z, Liang J, Li K, Al-Rajhi AA, Chaudhry IA, Li M, Wu K. Shamsi FA, et al. Invest Ophthalmol Vis Sci. 2011 Nov 25;52(12):9156-65. doi: 10.1167/iovs.11-8301. Invest Ophthalmol Vis Sci. 2011. PMID: 22025569

10

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

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