Maumenee IH - Search Results

1

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.

2

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: maumenee ih. 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.

3

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

4

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

5

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

6

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

7

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

8

Genetic basis of total colourblindness among the Pingelapese islanders.

Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH. Sundin OH, et al. Among authors: maumenee ih. Nat Genet. 2000 Jul;25(3):289-93. doi: 10.1038/77162. Nat Genet. 2000. PMID: 10888875

9

Unilateral isolated microphthalmia inherited as an autosomal recessive trait.

Fleckenstein M, Maumenee IH. Fleckenstein M, et al. Among authors: maumenee ih. Ophthalmic Genet. 2005 Dec;26(4):163-8. doi: 10.1080/13816810500468672. Ophthalmic Genet. 2005. PMID: 16352476

10

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

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