249 related articles for article (PubMed ID: 22039241)
1. X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
Bowles K; Cukras C; Turriff A; Sergeev Y; Vitale S; Bush RA; Sieving PA
Invest Ophthalmol Vis Sci; 2011 Nov; 52(12):9250-6. PubMed ID: 22039241
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling.
Vijayasarathy C; Sardar Pasha SPB; Sieving PA
Prog Retin Eye Res; 2022 Mar; 87():100999. PubMed ID: 34390869
[TBL] [Abstract][Full Text] [Related]
4. Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV; Caruso RC; Meltzer MR; Smaoui N; MacDonald IM; Sieving PA
Hum Mol Genet; 2010 Apr; 19(7):1302-13. PubMed ID: 20061330
[TBL] [Abstract][Full Text] [Related]
5. A phenotype-genotype correlation study of X-linked retinoschisis.
Vincent A; Robson AG; Neveu MM; Wright GA; Moore AT; Webster AR; Holder GE
Ophthalmology; 2013 Jul; 120(7):1454-64. PubMed ID: 23453514
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19093009
[TBL] [Abstract][Full Text] [Related]
7. Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
Sergeev YV; Vitale S; Sieving PA; Vincent A; Robson AG; Moore AT; Webster AR; Holder GE
Hum Mol Genet; 2013 Dec; 22(23):4756-67. PubMed ID: 23847049
[TBL] [Abstract][Full Text] [Related]
8. The Road towards Gene Therapy for X-Linked Juvenile Retinoschisis: A Systematic Review of Preclinical Gene Therapy in Cell-Based and Rodent Models of XLRS.
van der Veen I; Heredero Berzal A; Koster C; Ten Asbroek ALMA; Bergen AA; Boon CJF
Int J Mol Sci; 2024 Jan; 25(2):. PubMed ID: 38279267
[TBL] [Abstract][Full Text] [Related]
9. 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; 52(13):9614-23. PubMed ID: 22110067
[TBL] [Abstract][Full Text] [Related]
10. Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
Eksandh L; Andréasson S; Abrahamson M
Ophthalmic Genet; 2005 Sep; 26(3):111-7. PubMed ID: 16272055
[TBL] [Abstract][Full Text] [Related]
11. An ex vivo gene therapy approach in X-linked retinoschisis.
Bashar AE; Metcalfe AL; Viringipurampeer IA; Yanai A; Gregory-Evans CY; Gregory-Evans K
Mol Vis; 2016; 22():718-33. PubMed ID: 27390514
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Chowdhury S; Chermakani P; Baliga G; Anjanamurthy R; Sundaresan P
Indian J Ophthalmol; 2024 Jun; 72(6):902-911. PubMed ID: 38317323
[TBL] [Abstract][Full Text] [Related]
14. ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
Renner AB; Kellner U; Fiebig B; Cropp E; Foerster MH; Weber BH
Doc Ophthalmol; 2008 Mar; 116(2):97-109. PubMed ID: 17987333
[TBL] [Abstract][Full Text] [Related]
15. X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P; Pagliazzi A; Bargiacchi S; Marziali E; Sodi A; Caputo R; Passerini I; Pelo E; Bacci GM
Ophthalmic Genet; 2023 Feb; 44(1):35-42. PubMed ID: 36377647
[TBL] [Abstract][Full Text] [Related]
16. Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
Sudha D; Neriyanuri S; Sachidanandam R; Natarajan SN; Gandra M; Tharigopala A; Sivashanmugam M; Alameen M; Vetrivel U; Gopal L; Khetan V; Raman R; Sen P; Chidambaram S; Arunachalam JP
PLoS One; 2018; 13(5):e0198086. PubMed ID: 29851975
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Hahn LC; van Schooneveld MJ; Wesseling NL; Florijn RJ; Ten Brink JB; Lissenberg-Witte BI; Strubbe I; Meester-Smoor MA; Thiadens AA; Diederen RM; van Cauwenbergh C; de Zaeytijd J; Walraedt S; de Baere E; Klaver CCW; Ossewaarde-van Norel J; van den Born LI; Hoyng CB; van Genderen MM; Sieving PA; Leroy BP; Bergen AA; Boon CJF
Ophthalmology; 2022 Feb; 129(2):191-202. PubMed ID: 34624300
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 20569020
[TBL] [Abstract][Full Text] [Related]
20. Photoreceptor deficits appear at eye opening in Rs1 mutant mouse models of X-linked retinoschisis.
Tarchick MJ; Beight C; Bonezzi PB; Peachey NS; Renna JM
Exp Eye Res; 2024 May; 242():109872. PubMed ID: 38514024
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
