Maumenee IH - Search Results

1

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. Among authors: maumenee ih. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546

2

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. Among authors: maumenee ih. Arch Ophthalmol. 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029. Arch Ophthalmol. 2004. PMID: 15249368

3

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. Ophthalmic Genet. 2004 Sep;25(3):205-17. doi: 10.1080/13816810490513451. Ophthalmic Genet. 2004. PMID: 15512997

4

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: maumenee ih. Invest Ophthalmol Vis Sci. 2000 Jul;41(8):2076-9. Invest Ophthalmol Vis Sci. 2000. PMID: 10892846

5

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: maumenee ih. Ophthalmic Genet. 2006 Mar;27(1):15-20. doi: 10.1080/13816810500481840. Ophthalmic Genet. 2006. PMID: 16543197

6

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: maumenee ih. Mol Vis. 2004 Apr 20;10:297-303. Mol Vis. 2004. PMID: 15123990 Free article.

7

Posterior polar cataract: genetic analysis of a large family.

Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O. Finzi S, et al. Among authors: maumenee ih. Ophthalmic Genet. 2005 Sep;26(3):125-30. doi: 10.1080/13816810500229124. Ophthalmic Genet. 2005. PMID: 16272057

8

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: maumenee ih. Ophthalmic Genet. 2008 Mar;29(1):1-9. doi: 10.1080/13816810701651241. Ophthalmic Genet. 2008. PMID: 18363166 Free PMC article.

9

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. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9. doi: 10.1167/iovs.05-0111. Invest Ophthalmol Vis Sci. 2005. PMID: 16123401

10

Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis.

Koenekoop R, Pina AL, Loyer M, Davidson J, Robitaille J, Maumenee I, Tombran-Tink J. Koenekoop R, et al. Mol Vis. 1999 Jul 2;5:10. Mol Vis. 1999. PMID: 10398730 Free article.

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