Li Z - Search Results

1

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina.

Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, Yang X, Kam JH, Isaacs TW, Holder GE, Jeffery G, Beck JA, Moore AT, Plagnol V, Webster AR. Sergouniotis PI, et al. Among authors: li z. Am J Hum Genet. 2011 Dec 9;89(6):782-91. doi: 10.1016/j.ajhg.2011.11.004. Epub 2011 Dec 1. Am J Hum Genet. 2011. PMID: 22137173 Free PMC article.

2

Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).

Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR. Michaelides M, et al. Among authors: li z. Ophthalmology. 2010 Jan;117(1):120-127.e1. doi: 10.1016/j.ophtha.2009.06.011. Epub 2009 Oct 8. Ophthalmology. 2010. PMID: 19818506

3

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.

Li Z, Sergouniotis PI, Michaelides M, Mackay DS, Wright GA, Devery S, Moore AT, Holder GE, Robson AG, Webster AR. Li Z, et al. Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878917 Free PMC article.

4

Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.

Henderson RH, Li Z, Abd El Aziz MM, Mackay DS, Eljinini MA, Zeidan M, Moore AT, Bhattacharya SS, Webster AR. Henderson RH, et al. Among authors: li z. Mol Vis. 2010 Jan 15;16:46-52. Mol Vis. 2010. PMID: 20087419 Free PMC article.

5

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.

Mackay DS, Henderson RH, Sergouniotis PI, Li Z, Moradi P, Holder GE, Waseem N, Bhattacharya SS, Aldahmesh MA, Alkuraya FS, Meyer B, Webster AR, Moore AT. Mackay DS, et al. Among authors: li z. Mol Vis. 2010 Mar 9;16:369-77. Mol Vis. 2010. PMID: 20300561 Free PMC article.

6

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

Mukhopadhyay R, Sergouniotis PI, Mackay DS, Day AC, Wright G, Devery S, Leroy BP, Robson AG, Holder GE, Li Z, Webster AR. Mukhopadhyay R, et al. Among authors: li z. Mol Vis. 2010 Mar 26;16:540-8. Mol Vis. 2010. PMID: 20361016 Free PMC article.

7

A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.

Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR. Sergouniotis PI, et al. Among authors: li z. Invest Ophthalmol Vis Sci. 2011 Mar 30;52(3):1880-6. doi: 10.1167/iovs.10-6043. Invest Ophthalmol Vis Sci. 2011. PMID: 20811058

8

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

Henderson RH, Mackay DS, Li Z, Moradi P, Sergouniotis P, Russell-Eggitt I, Thompson DA, Robson AG, Holder GE, Webster AR, Moore AT. Henderson RH, et al. Among authors: li z. Br J Ophthalmol. 2011 Jun;95(6):811-7. doi: 10.1136/bjo.2010.186882. Epub 2010 Oct 17. Br J Ophthalmol. 2011. PMID: 20956273

9

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR. Sergouniotis PI, et al. Among authors: li z. Ophthalmology. 2011 Aug;118(8):1661-70. doi: 10.1016/j.ophtha.2010.12.031. Epub 2011 Apr 29. Ophthalmology. 2011. PMID: 21529959

10

Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR. Sergouniotis PI, et al. Among authors: li z. Am J Hum Genet. 2011 Jul 15;89(1):183-90. doi: 10.1016/j.ajhg.2011.06.002. Am J Hum Genet. 2011. PMID: 21763485 Free PMC article.

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