These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 27997221)

  • 1. Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis.
    Nicoletti A; Ziccardi L; Maltese PE; Benedetti S; Palumbo O; Rendina M; D'Agruma L; Falsini B; Wang X; Bertelli M
    Genet Test Mol Biomarkers; 2017 Feb; 21(2):116-121. PubMed ID: 27997221
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 19():2209-16. PubMed ID: 24227916
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 13():611-7. PubMed ID: 17515881
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 13():804-12. PubMed ID: 17615541
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 24529551
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 15281981
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular characterization of females affected by X-linked retinoschisis.
    Staffieri SE; Rose L; Chang A; De Roach JN; McLaren TL; Mackey DA; Hewitt AW; Lamey TM
    Clin Exp Ophthalmol; 2015; 43(7):643-7. PubMed ID: 25894957
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss.
    Sudha D; Patric IRP; Ganapathy A; Agarwal S; Krishna S; Neriyanuri S; Sripriya S; Sen P; Chidambaram S; Arunachalam JP
    Ophthalmic Genet; 2017; 38(3):260-266. PubMed ID: 28574807
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 19474399
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.
    Skorczyk A; Krawczyński MR
    Mol Vis; 2012; 18():3004-12. PubMed ID: 23288992
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families.
    Huopaniemi L; Tyynismaa H; Rantala A; Rosenberg T; Alitalo T
    Hum Mutat; 2000 Oct; 16(4):307-14. PubMed ID: 11013441
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
    Ma X; Li X; Wang L
    Jpn J Ophthalmol; 2008; 52(1):48-51. PubMed ID: 18369700
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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. PubMed ID: 15932525
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis].
    Chu Y; Fang D; Hou QF; Wang LY; Guo XR; Wang YT; Liao SX
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr; 30(2):199-202. PubMed ID: 23568735
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 20():132-9. PubMed ID: 24505212
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 14():1549-58. PubMed ID: 18728755
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 15531314
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 25168411
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel RS1 mutations associated with X-linked juvenile retinoschisis.
    Yi J; Li S; Jia X; Xiao X; Wang P; Guo X; Zhang Q
    Int J Mol Med; 2012 Apr; 29(4):644-8. PubMed ID: 22245991
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.
    Murro V; Caputo R; Bacci GM; Sodi A; Mucciolo DP; Bargiacchi S; Giglio SR; Virgili G; Rizzo S
    BMC Ophthalmol; 2017 Feb; 17(1):19. PubMed ID: 28235399
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.