PubMed

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

Simonelli F, Cennamo G, Ziviello C, Testa F, de Crecchio G, Nesti A, Manitto MP, Ciccodicola A, Banfi S, Brancato R, Rinaldi E.

Br J Ophthalmol. 2003 Sep;87(9):1130-4.PMID: 12928282 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene.

Eksandh LC, Ponjavic V, Ayyagari R, Bingham EL, Hiriyanna KT, Andréasson S, Ehinger B, Sieving PA.

Arch Ophthalmol. 2000 Aug;118(8):1098-104.PMID: 10922205 [PubMed - indexed for MEDLINE]Related articlesFree article

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

Li X, Ma X, Tao Y.

Mol Vis. 2007 Jun 7;13:804-12.PMID: 17615541 [PubMed - indexed for MEDLINE]Related articlesFree article

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. Epub 2008 Dec 12.PMID: 19093009 [PubMed - indexed for MEDLINE]Related articlesFree article

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]Related articles

Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome.

Sato M, Oshika T, Kaji Y, Nose H.

Ophthalmic Res. 2003 Sep-Oct;35(5):295-300.PMID: 12920343 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave.

Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K.

Am J Ophthalmol. 1999 Aug;128(2):179-84.PMID: 10458173 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2008 Mar 28.PMID: 18369700 [PubMed - indexed for MEDLINE]Related articles

Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis.

Zeng M, Yi C, Guo X, Jia X, Deng Y, Wang J, Shen H.

Curr Eye Res. 2007 Jul-Aug;32(7-8):685-91.PMID: 17852193 [PubMed - indexed for MEDLINE]Related articles

Unusual phenotypic expression of an XLRS1 mutation in X-linked juvenile retinoschisis.

Dodds JA, Srivastava AK, Holden KR.

J Child Neurol. 2006 Apr;21(4):331-3.PMID: 16900931 [PubMed - indexed for MEDLINE]Related articles

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

Hotta Y, Fujiki K, Hayakawa M, Ohta T, Fujimaki T, Tamaki K, Yokoyama T, Kanai A, Hirakata A, Hida T, Nishina S, Azuma N.

Hum Genet. 1998 Aug;103(2):142-4.PMID: 9760195 [PubMed - indexed for MEDLINE]Related articles

Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation.

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

Ophthalmic Genet. 2000 Sep;21(3):171-80.PMID: 11035549 [PubMed - indexed for MEDLINE]Related articles

A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis.

Koh HJ, Jwa NS, Kim SS, Lee SC, Kwon OW.

Korean J Ophthalmol. 2006 Mar;20(1):62-4.PMID: 16768192 [PubMed - indexed for MEDLINE]Related articlesFree article

Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease.

Sieving PA, Yashar BM, Ayyagari R.

Trans Am Ophthalmol Soc. 1999;97:451-64; discussion 464-9.PMID: 10703138 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 18728755 [PubMed - indexed for MEDLINE]Related articlesFree article

Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene.

Tanimoto N, Usui T, Takagi M, Hasegawa S, Abe H, Sekiya K, Miyagawa Y, Nakazawa M.

Jpn J Ophthalmol. 2002 Sep-Oct;46(5):568-76.PMID: 12457918 [PubMed - indexed for MEDLINE]Related articles

X-linked retinoschisis with point mutations in the XLRS1 gene.

Inoue Y, Yamamoto S, Okada M, Tsujikawa M, Inoue T, Okada AA, Kusaka S, Saito Y, Wakabayashi K, Miyake Y, Fujikado T, Tano Y.

Arch Ophthalmol. 2000 Jan;118(1):93-6.PMID: 10636421 [PubMed - indexed for MEDLINE]Related articlesFree article

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]Related articlesFree article