Li Y - Search Results

1

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

2

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

3

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee IH. Kerrison JB, et al. Among authors: li y. Arch Ophthalmol. 1999 Jun;117(6):805-10. doi: 10.1001/archopht.117.6.805. Arch Ophthalmol. 1999. PMID: 10369594

4

A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Dharmaraj S, Li Y, Robitaille JM, Silva E, Zhu D, Mitchell TN, Maltby LP, Baffoe-Bonnie AB, Maumenee IH. Dharmaraj S, et al. Among authors: li y. Am J Hum Genet. 2000 Jan;66(1):319-26. doi: 10.1086/302719. Am J Hum Genet. 2000. PMID: 10631161 Free PMC article. No abstract available.

5

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: li y. Nat Genet. 2000 Jul;25(3):289-93. doi: 10.1038/77162. Nat Genet. 2000. PMID: 10888875

6

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.

Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K. Zhang K, et al. Among authors: li y, li w. Nat Genet. 2001 Jan;27(1):89-93. doi: 10.1038/83817. Nat Genet. 2001. PMID: 11138005

7

Dominant inheritance of optic pits.

Stefko ST, Campochiaro P, Wang P, Li Y, Zhu D, Traboulsi EI. Stefko ST, et al. Among authors: li y. Am J Ophthalmol. 1997 Jul;124(1):112-3. doi: 10.1016/s0002-9394(14)71656-3. Am J Ophthalmol. 1997. PMID: 9222245

8

Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium.

Chang JT, Esumi N, Moore K, Li Y, Zhang S, Chew C, Goodman B, Rattner A, Moody S, Stetten G, Campochiaro PA, Zack DJ. Chang JT, et al. Among authors: li y. Hum Mol Genet. 1999 Apr;8(4):575-83. doi: 10.1093/hmg/8.4.575. Hum Mol Genet. 1999. PMID: 10072424

9

Mammalian homolog of Drosophila retinal degeneration B rescues the mutant fly phenotype.

Chang JT, Milligan S, Li Y, Chew CE, Wiggs J, Copeland NG, Jenkins NA, Campochiaro PA, Hyde DR, Zack DJ. Chang JT, et al. Among authors: li y. J Neurosci. 1997 Aug 1;17(15):5881-90. doi: 10.1523/JNEUROSCI.17-15-05881.1997. J Neurosci. 1997. PMID: 9221785 Free PMC article.

10

Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus.

Li Y, Marcos I, Borrego S, Yu Z, Zhang K, Antiñolo G. Li Y, et al. J Med Genet. 2001 Jul;38(7):478-80. doi: 10.1136/jmg.38.7.478. J Med Genet. 2001. PMID: 11474659 Free PMC article. No abstract available.

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