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Items: 1 to 20 of 93

1.

Genetic and clinical evaluation of juvenile retinoschisis.

Kim JE, Ruttum MS, Koeberl MJ, Hassemer EL, Sidjanin DJ.

J AAPOS. 2009 Apr;13(2):215-7. doi: 10.1016/j.jaapos.2008.11.005.

2.

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.

Skorczyk A, Krawczyński MR.

Mol Vis. 2012;18:3004-12. Epub 2012 Dec 13.

3.

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
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. eCollection 2014.

6.

Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations.

Chan WM, Choy KW, Wang J, Lam DS, Yip WW, Fu W, Pang CP.

Clin Exp Ophthalmol. 2004 Aug;32(4):429-32.

PMID:
15281981
7.

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. Epub 2014 Aug 29. Erratum in: Eye (Lond). 2014 Nov;28(11):1394.

8.

X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.

Saldana M, Thompson J, Monk E, Trump D, Long V, Sheridan E.

Am J Med Genet A. 2007 Mar 15;143A(6):608-9. No abstract available.

PMID:
17304551
9.

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA, Wang X.

Mol Vis. 2013 Nov 7;19:2209-16. eCollection 2013.

10.

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.

11.

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. Epub 2011 Dec 15.

PMID:
22171610
12.

Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.

Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez-Pardo A, Trujillo-Tiebas MJ, Ayuso C.

Hum Genet. 2008 Jun;123(5):551. No abstract available.

PMID:
20960647
13.

Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis.

Inoue Y, Yamamoto S, Inoue T, Fujikado T, Kusaka S, Ohguro N, Ohji M, Tano Y.

Am J Ophthalmol. 2002 Oct;134(4):622-4.

PMID:
12383832
14.

X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.

Ulinska M, Kmera-Muszynska M, Szulborski K, Broniek-Kowalik K, Franaszczyk M, Oldak M, Ploski R.

Klin Oczna. 2014;116(3):187-92.

PMID:
25799783
15.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C.

Hum Genet. 2005 Dec;118(3-4):536. No abstract available.

PMID:
16521246
16.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C.

Hum Genet. 2005 Dec;118(3-4):536. No abstract available.

PMID:
16521245
17.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C.

Hum Genet. 2005 Dec;118(3-4):535. No abstract available.

PMID:
16521244
18.

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro R, Trujillo-Tiebas MJ, Gimenez A, Garcia-Hoyos M, Cantalapiedra D, Vallespin E, Queipo A, Ramos C, Ayuso C.

Hum Genet. 2005 Dec;118(3-4):535. No abstract available.

PMID:
16521243
19.

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
20.

An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.

Iannaccone A, Mura M, Dyka FM, Ciccarelli ML, Yashar BM, Ayyagari R, Jablonski MM, Molday RS.

Vision Res. 2006 Oct;46(22):3845-52. Epub 2006 Aug 1.

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