Familial aplasia of the vermis
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Familial aplasia of the vermis
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Here, we designed a spliceosome mediated pre-mRNA trans-splicing strategy to rescue expression of CEP290, which is associated with Leber congenital amaurosis type 10 (LCA10) and several syndromic diseases including Joubert syndrome.
|
30195768 |
2018 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis.
|
21153841 |
2011 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
|
16682973 |
2006 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: genotyping a Northern European patient cohort.
|
25920555 |
2016 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4.
|
23954617 |
2013 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity.
|
25445212 |
2015 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.
|
23344081 |
2012 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of Joubert syndrome in Saudi Arabia.
|
22693042 |
2012 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
|
20079931 |
2010 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Development of end-stage renal disease at a young age in two cases with Joubert syndrome.
|
25818971 |
2016 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
|
23847139 |
2013 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
|
23559409 |
2013 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
|
20690115 |
2010 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
|
17564974 |
2007 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
|
28497568 |
2017 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
|
22355252 |
2012 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies.
|
29398085 |
2018 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
|
17564967 |
2007 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
|
29588463 |
2018 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
|
20683928 |
2010 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
|
27491411 |
2016 |
Familial aplasia of the vermis
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
|
17964524 |
2007 |