|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.
|
21701876 |
2011 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Dramatic regression of macular and peripheral retinoschisis with dorzolamide 2 % in X-linked retinoschisis: a case report.
|
27246168 |
2016 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
|
15932525 |
2005 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
|
19093009 |
2008 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
|
15932525 |
2005 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Positional cloning of the gene associated with X-linked juvenile retinoschisis.
|
9326935 |
1997 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
|
28272453 |
2017 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.
|
18369700 |
2008 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.
|
18541843 |
2008 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
|
9618178 |
1998 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
|
20801516 |
2011 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.
|
17615541 |
2007 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene.
|
15531314 |
2004 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
|
10220153 |
1999 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis.
|
16167295 |
2005 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Novel phenotypic and genotypic findings in X-linked retinoschisis.
|
17296904 |
2007 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
|
23847049 |
2013 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.
|
20809529 |
2010 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis.
|
10636740 |
1999 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
|
15937075 |
2005 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene.
|
10922205 |
2000 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis. Mutation in brief no. 234. Online.
|
10220153 |
1999 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
CausalMutation |
CLINVAR |
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
|
16361673 |
2006 |
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
|
20061330 |
2010 |