LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
A significant number of EOSRD cases, often diagnosed as Leber congenital amaurosis (LCA13), are associated with mutations in the gene encoding retinol dehydrogenase 12 (RDH12).
|
31237438 |
2019 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives.
|
31505163 |
2019 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
|
29186038 |
2017 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
|
26355662 |
2016 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
|
26047050 |
2015 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
|
26497376 |
2015 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
|
26306921 |
2015 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
|
26124963 |
2015 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
Biomarker
|
disease |
CTD_human |
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
|
25526675 |
2015 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
|
24474277 |
2014 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
|
24474277 |
2014 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
|
23847139 |
2013 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RDH12 retinopathy: novel mutations and phenotypic description.
|
22065924 |
2011 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
RDH12 retinopathy: novel mutations and phenotypic description.
|
22065924 |
2011 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
RDH12 retinopathy: novel mutations and phenotypic description.
|
22065924 |
2011 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.
|
19140180 |
2009 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Molecular characterization of retinitis pigmentosa in Saudi Arabia.
|
19956407 |
2009 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
|
17389517 |
2007 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
|
17964524 |
2007 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
|
16269441 |
2005 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
|
16269441 |
2005 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
|
15258582 |
2004 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
|
15258582 |
2004 |