Condition: RETINOSCHISIS 1, X-LINKED, JUVENILE
rs104894929 in
CDKL5;RS1 gene and
RETINOSCHISIS 1, X-LINKED, JUVENILE
PMID 9760195 1998 Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
PMID 19093009 2008 Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
PMID 27798099 2016 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
PMID 9326935 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis.
PMID 17631851 2007 Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
PMID 19849666 2009 Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
PMID 17304551 2007 X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
PMID 10450864 1999 Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
PMID 17615541 2007 Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
PMID 10220153 1999 Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
PMID 10079181 1999 Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
PMID 10533068 1999 Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
PMID 10234514 1999 Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
PMID 10589241 1999 [A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene].
PMID 12928282 2003 Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.
PMID 17987333 2008 ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
PMID 21701876 2011 Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.
PMID 19390641 2009 Molecular genetic characteristics of X-linked retinoschisis in Koreans.
PMID 20061330 2010 Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
PMID 18369700 2008 Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
PMID 15932525 2005 Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
PMID 9618178 1998 Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
PMID 17296904 2007 Novel phenotypic and genotypic findings in X-linked retinoschisis.
PMID 15937075 2005 X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
PMID 22332228 2012 Novel clinical manifestation of congenital X-linked retinoschisis.
PMID 18834580 2009 Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
PMID 16361673 2006 Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
PMID 10636429 2000 Clinical phenotype associated with the arg141 his mutation in the X-linked retinoschisis gene.
PMID 18690710 2008 Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose.
PMID 17525175 2007 Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.
PMID 10636421 2000 X-linked retinoschisis with point mutations in the XLRS1 gene.
PMID 10947001 1999 Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.
PMID 17515881 2007 Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
PMID 10922205 2000 Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene.
PMID 20809529 2010 Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.
PMID 23453514 2013 A phenotype-genotype correlation study of X-linked retinoschisis.
PMID 23514609 2014 Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide.
PMID 23847049 2013 Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
PMID 12417531 2002 Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.
rs104894935 in
RS1 gene and
RETINOSCHISIS 1, X-LINKED, JUVENILE
PMID 10234514 1999 Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
PMID 17304551 2007 X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
PMID 10079181 1999 Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
PMID 10533068 1999 Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
PMID 10450864 1999 Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
PMID 19849666 2009 Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
PMID 9760195 1998 Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
PMID 27798099 2016 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
PMID 17615541 2007 Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
PMID 9326935 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis.
PMID 19093009 2008 Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
PMID 10220153 1999 Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
PMID 17631851 2007 Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
rs104894928 in
RS1;CDKL5 gene and
RETINOSCHISIS 1, X-LINKED, JUVENILE
PMID 10234514 1999 Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
PMID 27798099 2016 Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
PMID 9760195 1998 Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.
PMID 19849666 2009 Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
PMID 17304551 2007 X-linked retinoschisis in a female with a heterozygous RS1 missense mutation.
PMID 19093009 2008 Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
PMID 9326935 1997 Positional cloning of the gene associated with X-linked juvenile retinoschisis.
PMID 17615541 2007 Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
PMID 10533068 1999 Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.
PMID 10079181 1999 Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
PMID 17631851 2007 Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
PMID 10220153 1999 Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
PMID 10450864 1999 Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
PMID 9618178 1998 Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
PMID 20061330 2010 Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
PMID 26356828 2015 Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.
PMID 18541843 2008 Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.
PMID 16167295 2005 Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis.
PMID 10636740 1999 First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.
PMID 17515881 2007 Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis.
PMID 22039241 2011 X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
PMID 12920343 2003 Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 29081674 2017 Segmented swept source optical coherence tomography angiography assessment of the perifoveal vasculature in patients with X-linked juvenile retinoschisis: a serial case report.
PMID 23847049 2013 Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
PMID 27246168 2016 Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report.
PMID 28450823 2017 Proteomic profiling of human intraschisis cavity fluid.
PMID 19390641 2009 Molecular genetic characteristics of X-linked retinoschisis in Koreans.
PMID 15531314 2004 Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.
PMID 15932525 2005 Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
PMID 16272055 2005 Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease.
PMID 28272453 2017 Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
PMID 20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
PMID 17987333 2008 ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
PMID 16361673 2006 Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
PMID 19324861 2009 Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
PMID 12782284 2003 Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.