Achromatopsia 3
|
0.930 |
Biomarker
|
disease |
MGD |
A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3.
|
30592498 |
2018 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
|
28795510 |
2017 |
Achromatopsia 3
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
|
28795510 |
2017 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.
|
26992781 |
2016 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.
|
25616768 |
2015 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Antifungal activity of compounds targeting the Hsp90-calcineurin pathway against various mould species.
|
25558076 |
2015 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels.
|
26106334 |
2015 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Five novel CNGB3 gene mutations in Polish patients with achromatopsia.
|
25558176 |
2014 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Retinal structure and function in achromatopsia: implications for gene therapy.
|
24148654 |
2014 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.
|
25205868 |
2014 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
|
23776498 |
2013 |
Achromatopsia 3
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.
|
23805033 |
2013 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
|
20079539 |
2010 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.
|
20574029 |
2010 |
Achromatopsia 3
|
0.930 |
Biomarker
|
disease |
MGD |
Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.
|
19767295 |
2009 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
|
19592100 |
2009 |
Achromatopsia 3
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
|
17652762 |
2007 |
Achromatopsia 3
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
|
17265047 |
2007 |
Achromatopsia 3
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
|
15712225 |
2005 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and genetic features of Hungarian achromatopsia patients.
|
16319819 |
2005 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
|
15712225 |
2005 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
|
15657609 |
2005 |
Achromatopsia 3
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
|
15657609 |
2005 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
|
15712225 |
2005 |
Achromatopsia 3
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
|
15657609 |
2005 |