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Items: 1 to 20 of 107

1.

Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation.

Xu F, Sui R, Dong F.

Ophthalmic Genet. 2012 Jun;33(2):77-82. doi: 10.3109/13816810.2011.628359.

PMID:
22171610
2.

Long-term 12 year follow-up of X-linked congenital retinoschisis.

Kjellström S, Vijayasarathy C, Ponjavic V, Sieving PA, Andréasson S.

Ophthalmic Genet. 2010 Sep;31(3):114-25. doi: 10.3109/13816810.2010.482555.

3.

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.

Huang Y, Mei L, Gui B, Su W, Liang D, Wu L, Pan Q.

Eye (Lond). 2014 Nov;28(11):1364-9. doi: 10.1038/eye.2014.196. Erratum in: Eye (Lond). 2014 Nov;28(11):1394.

4.

Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.

Chen J, Xu K, Zhang X, Pan Z, Dong B, Li Y.

Mol Vis. 2014 Jan 31;20:132-9.

5.

R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.

Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N.

Mol Vis. 2010 Aug 12;16:1593-600.

6.

Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

Lesch B, Szabó V, Kánya M, Somfai GM, Vámos R, Varsányi B, Pámer Z, Knézy K, Salacz G, Janáky M, Ferencz M, Hargitai J, Papp A, Farkas A.

Mol Vis. 2008;14:2321-32.

7.

A novel gene mutation in a family with X-linked retinoschisis.

Lai YH, Huang SP, Chen SP, Hu PS, Lin SF, Sheu MM, Wang HZ, Tsai RK.

J Formos Med Assoc. 2015 Sep;114(9):872-80. doi: 10.1016/j.jfma.2014.01.001.

8.
9.

Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.

Vijayasarathy C, Ziccardi L, Zeng Y, Smaoui N, Caruso RC, Sieving PA.

Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5375-83. doi: 10.1167/iovs.09-3839.

10.

Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.

Xu F, Xiang H, Jiang R, Dong F, Sui R.

Doc Ophthalmol. 2011 Aug;123(1):21-7. doi: 10.1007/s10633-011-9278-x.

PMID:
21701876
11.

Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis.

Atchaneeyasakul LO, Trinavarat A, Pituksung A, Jinda W, Thongnoppakhun W, Limwongse C.

Jpn J Ophthalmol. 2010 Jan;54(1):89-93. doi: 10.1007/s10384-009-0748-6.

PMID:
20151283
13.

Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.

Wang NK, Liu L, Chen HM, Tsai S, Chang TC, Tsai TH, Yang CM, Chao AN, Chen KJ, Kao LY, Yeung L, Yeh LK, Hwang YS, Wu WC, Lai CC.

Mol Vis. 2015 Apr 28;21:487-501.

14.

Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.

Suganthalakshmi B, Shukla D, Rajendran A, Kim R, Nallathambi J, Sundaresan P.

Mol Vis. 2007 Apr 19;13:611-7.

15.

Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene.

Lesch B, Szabó V, Kánya M, Varsányi B, Somfai GM, Hargitai J, Vámos R, Fiedler O, Farkas A.

Mol Vis. 2008 Aug 25;14:1549-58.

16.

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.

Hewitt AW, FitzGerald LM, Scotter LW, Mulhall LE, McKay JD, Mackey DA.

Clin Exp Ophthalmol. 2005 Jun;33(3):233-9.

PMID:
15932525
17.

Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.

Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A.

Invest Ophthalmol Vis Sci. 2011 Dec 20;52(13):9614-23. doi: 10.1167/iovs.11-8600.

18.

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

Ma X, Li X, Wang L.

Jpn J Ophthalmol. 2008 Jan-Feb;52(1):48-51. doi: 10.1007/s10384-007-0488-4.

PMID:
18369700
19.

Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.

Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K.

Am J Ophthalmol. 2004 Nov;138(5):788-98.

PMID:
15531314
20.

X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.

Gliem M, Holz FG, Stöhr H, Weber BH, Charbel Issa P.

Retina. 2014 Dec;34(12):2472-8. doi: 10.1097/IAE.0000000000000243.

PMID:
25054456
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