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Results: 1 to 20 of 148

1.

X-linked retinoschisis: a clinical and molecular genetic review.

Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA.

Surv Ophthalmol. 2004 Mar-Apr;49(2):214-30. Review.

PMID:
14998693
[PubMed - indexed for MEDLINE]
2.
3.
4.

Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells.

Grayson C, Reid SN, Ellis JA, Rutherford A, Sowden JC, Yates JR, Farber DB, Trump D.

Hum Mol Genet. 2000 Jul 22;9(12):1873-9.

PMID:
10915776
[PubMed - indexed for MEDLINE]
Free Article
5.

Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration.

Kjellstrom S, Bush RA, Zeng Y, Takada Y, Sieving PA.

Invest Ophthalmol Vis Sci. 2007 Aug;48(8):3837-45.

PMID:
17652759
[PubMed - indexed for MEDLINE]
Free Article
6.

Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis.

Min SH, Molday LL, Seeliger MW, Dinculescu A, Timmers AM, Janssen A, Tonagel F, Tanimoto N, Weber BH, Molday RS, Hauswirth WW.

Mol Ther. 2005 Oct;12(4):644-51.

PMID:
16027044
[PubMed - indexed for MEDLINE]
7.

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Molday RS, Kellner U, Weber BH.

Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002. Epub 2012 Jan 3. Review.

PMID:
22245536
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.

Zeng Y, Takada Y, Kjellstrom S, Hiriyanna K, Tanikawa A, Wawrousek E, Smaoui N, Caruso R, Bush RA, Sieving PA.

Invest Ophthalmol Vis Sci. 2004 Sep;45(9):3279-85.

PMID:
15326152
[PubMed - indexed for MEDLINE]
Free Article
9.

RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer.

Wu WW, Wong JP, Kast J, Molday RS.

J Biol Chem. 2005 Mar 18;280(11):10721-30. Epub 2005 Jan 11.

PMID:
15644328
[PubMed - indexed for MEDLINE]
Free Article
10.

X-linked retinoschisis: report of a family with a rare deletion in the XLRS1 gene.

Tantri A, Vrabec TR, Cu-Unjieng A, Frost A, Annesley WH Jr, Donoso LA.

Am J Ophthalmol. 2003 Sep;136(3):547-9.

PMID:
12967815
[PubMed - indexed for MEDLINE]
11.

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

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

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

PMID:
15932525
[PubMed - indexed for MEDLINE]
12.

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.

Pimenides D, George ND, Yates JR, Bradshaw K, Roberts SA, Moore AT, Trump D.

J Med Genet. 2005 Jun;42(6):e35.

PMID:
15937075
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

X-linked retinoschisis: novel mutation in the initiation codon of the XLRS1 gene in a large family.

Kim DY, Neely KA, Sassani JW, Vrabec TR, Tantri A, Frost A, Donoso LA.

Retina. 2006 Oct;26(8):940-6.

PMID:
17031297
[PubMed - indexed for MEDLINE]
14.

Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene.

Shinoda K, Mashima Y, Ishida S, Oguchi Y.

Ophthalmic Genet. 1999 Mar;20(1):57-61.

PMID:
10454824
[PubMed - indexed for MEDLINE]
15.

The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.

Friedrich U, Stöhr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, Weber BH.

Hum Mol Genet. 2011 Mar 15;20(6):1132-42. doi: 10.1093/hmg/ddq557. Epub 2010 Dec 31.

PMID:
21196491
[PubMed - indexed for MEDLINE]
Free Article
16.

X-linked retinoschisis: an update.

Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D.

J Med Genet. 2007 Apr;44(4):225-32. Epub 2006 Dec 15. Review.

PMID:
17172462
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.

Dyka FM, Molday RS.

Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2491-7.

PMID:
17525175
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

PMID:
17515881
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Macular and extramacular optical coherence tomography findings in X-linked retinoschisis.

Urrets-Zavalía JA, Venturino JP, Mercado J, Urrets-Zavalía EA.

Ophthalmic Surg Lasers Imaging. 2007 Sep-Oct;38(5):417-22.

PMID:
17955851
[PubMed - indexed for MEDLINE]
20.

Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis.

Teixeira C, Rocha-Sousa A, Trump D, Brandão E, Falcão-Reis F.

Eur J Ophthalmol. 2005 Sep-Oct;15(5):638-40.

PMID:
16167295
[PubMed - indexed for MEDLINE]

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