Li A - Search Results

1

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

Hejtmancik JF, Jiao X, Li A, Sergeev YV, Ding X, Sharma AK, Chan CC, Medina I, Edwards AO. Hejtmancik JF, et al. Among authors: li a. Am J Hum Genet. 2008 Jan;82(1):174-80. doi: 10.1016/j.ajhg.2007.08.002. Am J Hum Genet. 2008. PMID: 18179896 Free PMC article.

2

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Li A, et al. Am J Hum Genet. 2004 May;74(5):817-26. doi: 10.1086/383228. Epub 2004 Mar 23. Am J Hum Genet. 2004. PMID: 15042513 Free PMC article.

3

A 5-base insertion in the gammaC-crystallin gene is associated with autosomal dominant variable zonular pulverulent cataract.

Ren Z, Li A, Shastry BS, Padma T, Ayyagari R, Scott MH, Parks MM, Kaiser-Kupfer MI, Hejtmancik JF. Ren Z, et al. Among authors: li a. Hum Genet. 2000 May;106(5):531-7. doi: 10.1007/s004390000289. Hum Genet. 2000. PMID: 10914683 Free article.

4

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.

Jiao X, Li A, Jin ZB, Wang X, Iannaccone A, Traboulsi EI, Gorin MB, Simonelli F, Hejtmancik JF. Jiao X, et al. Among authors: li a. Eur J Hum Genet. 2017 Apr;25(4):461-471. doi: 10.1038/ejhg.2016.184. Epub 2017 Jan 4. Eur J Hum Genet. 2017. PMID: 28051075 Free PMC article.

5

Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia.

Jiao X, Wang P, Li S, Li A, Guo X, Zhang Q, Hejtmancik JF. Jiao X, et al. Among authors: li s, li a. Mol Vis. 2012;18:2633-46. Epub 2012 Oct 26. Mol Vis. 2012. PMID: 23170057 Free PMC article.

6

Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

Ouyang XM, Yan D, Du LL, Hejtmancik JF, Jacobson SG, Nance WE, Li AR, Angeli S, Kaiser M, Newton V, Brown SD, Balkany T, Liu XZ. Ouyang XM, et al. Hum Genet. 2005 Mar;116(4):292-9. doi: 10.1007/s00439-004-1227-2. Epub 2005 Jan 20. Hum Genet. 2005. PMID: 15660226

7

The EPHA2 gene is associated with cataracts linked to chromosome 1p.

Shiels A, Bennett TM, Knopf HL, Maraini G, Li A, Jiao X, Hejtmancik JF. Shiels A, et al. Among authors: li a. Mol Vis. 2008;14:2042-55. Epub 2008 Nov 12. Mol Vis. 2008. PMID: 19005574 Free PMC article.

8

An atypical form of Bietti crystalline dystrophy.

Rossi S, Testa F, Li A, Iorio VD, Zhang J, Gesualdo C, Corte MD, Chan CC, Fielding Hejtmancik J, Simonelli F. Rossi S, et al. Among authors: li a. Ophthalmic Genet. 2011 Jun;32(2):118-21. doi: 10.3109/13816810.2011.559653. Epub 2011 Mar 8. Ophthalmic Genet. 2011. PMID: 21385027 Free PMC article.

9

Clinical and genetic features in Italian Bietti crystalline dystrophy patients.

Rossi S, Testa F, Li A, Yaylacioğlu F, Gesualdo C, Hejtmancik JF, Simonelli F. Rossi S, et al. Among authors: li a. Br J Ophthalmol. 2013 Feb;97(2):174-9. doi: 10.1136/bjophthalmol-2012-302469. Epub 2012 Dec 6. Br J Ophthalmol. 2013. PMID: 23221965 Free PMC article.

10

Mutational spectrum in Usher syndrome type II.

Ouyang XM, Hejtmancik JF, Jacobson SG, Li AR, Du LL, Angeli S, Kaiser M, Balkany T, Liu XZ. Ouyang XM, et al. Among authors: li ar. Clin Genet. 2004 Apr;65(4):288-93. doi: 10.1046/j.1399-0004.2004.00216.x. Clin Genet. 2004. PMID: 15025721

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