Dharmaraj S - Search Results

1

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH. Dharmaraj S, et al. Arch Ophthalmol. 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029. Arch Ophthalmol. 2004. PMID: 15249368

2

Mutational analysis and clinical correlation in Leber congenital amaurosis.

Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Dharmaraj SR, et al. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546

3

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.

Silva E, Yang JM, Li Y, Dharmaraj S, Sundin OH, Maumenee IH. Silva E, et al. Among authors: dharmaraj s. Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2076-9. Invest Ophthalmol Vis Sci. 2000. PMID: 10892846

4

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I. Silva E, et al. Among authors: dharmaraj s. Ophthalmic Genet. 2004 Sep;25(3):205-17. doi: 10.1080/13816810490513451. Ophthalmic Genet. 2004. PMID: 15512997

5

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. Zernant J, et al. Among authors: dharmaraj s. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9. doi: 10.1167/iovs.05-0111. Invest Ophthalmol Vis Sci. 2005. PMID: 16123401

6

Prevalence of AIPL1 mutations in inherited retinal degenerative disease.

Sohocki MM, Perrault I, Leroy BP, Payne AM, Dharmaraj S, Bhattacharya SS, Kaplan J, Maumenee IH, Koenekoop R, Meire FM, Birch DG, Heckenlively JR, Daiger SP. Sohocki MM, et al. Among authors: dharmaraj s. Mol Genet Metab. 2000 Jun;70(2):142-50. doi: 10.1006/mgme.2000.3001. Mol Genet Metab. 2000. PMID: 10873396

7

A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

Abouzeid H, Li Y, Maumenee IH, Dharmaraj S, Sundin O. Abouzeid H, et al. Among authors: dharmaraj s. Ophthalmic Genet. 2006 Mar;27(1):15-20. doi: 10.1080/13816810500481840. Ophthalmic Genet. 2006. PMID: 16543197

8

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

Tucker CL, Ramamurthy V, Pina AL, Loyer M, Dharmaraj S, Li Y, Maumenee IH, Hurley JB, Koenekoop RK. Tucker CL, et al. Among authors: dharmaraj s. Mol Vis. 2004 Apr 20;10:297-303. Mol Vis. 2004. PMID: 15123990 Free article.

9

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

Sundin OH, Leppert GS, Silva ED, Yang JM, Dharmaraj S, Maumenee IH, Santos LC, Parsa CF, Traboulsi EI, Broman KW, Dibernardo C, Sunness JS, Toy J, Weinberg EM. Sundin OH, et al. Among authors: dharmaraj s. Proc Natl Acad Sci U S A. 2005 Jul 5;102(27):9553-8. doi: 10.1073/pnas.0501451102. Epub 2005 Jun 23. Proc Natl Acad Sci U S A. 2005. PMID: 15976030 Free PMC article.

10

Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.

Sundin OH, Dharmaraj S, Bhutto IA, Hasegawa T, McLeod DS, Merges CA, Silval ED, Maumenee IH, Lutty GA. Sundin OH, et al. Among authors: dharmaraj s. Ophthalmic Genet. 2008 Mar;29(1):1-9. doi: 10.1080/13816810701651241. Ophthalmic Genet. 2008. PMID: 18363166 Free PMC article.

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