|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Two homozygous missense mutations in the crumbs homolog 1 (CRB1) gene, which is known to cause severe retinal dystrophies, were found to be related to the phenotype of the two arRP families.
|
31322236 |
2019 |
|
Retinal Dystrophies
|
0.200 |
CausalMutation
|
group |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Patients with mutations in the CRB1 gene develop retinal dystrophies, including early-onset retinitis pigmentosa and Leber congenital amaurosis.
|
29893966 |
2018 |
|
Retinal Dystrophies
|
0.200 |
Biomarker
|
group |
BEFREE |
Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient.
|
28129017 |
2017 |
|
Retinal Dystrophies
|
0.200 |
Biomarker
|
group |
BEFREE |
Fifty-five patients with CRB1-associated retinal dystrophies from 16 families.
|
28341475 |
2017 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Pathogenic variants in CRB1 lead to a huge variety of phenotypes ranging from milder forms of inherited retinal dystrophy, such as retinitis pigmentosa to more severe phenotypes such as Leber congenital amaurosis.
|
28819299 |
2017 |
|
Retinal Dystrophies
|
0.200 |
Biomarker
|
group |
BEFREE |
Systemic inflammatory immune signatures in a patient with CRB1 linked retinal dystrophy.
|
27690673 |
2016 |
|
Retinal Dystrophies
|
0.200 |
Biomarker
|
group |
BEFREE |
Two sisters were clinically diagnosed and genetically confirmed to have recessive CRB1-related retinal dystrophy.
|
27007588 |
2016 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the Crumbs-homologue-1 (CRB1) gene lead to severe recessive inherited retinal dystrophies.
|
25701872 |
2015 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in CRB1 lead to a spectrum of autosomal recessive retinal dystrophies with variable phenotypes suggesting the influence of modifying factors.
|
25147295 |
2015 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In this study, we studied the cellular localization of CRB1 and CRB2 in human retina and tested the influence of the Crb2 gene allele on Crb1-retinal dystrophies in mice.
|
24565864 |
2014 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
To describe three siblings with childhood cone-rod dystrophy and macular cystic degeneration in a family with apparently variable phenotypes of CRB1-related recessive retinal dystrophy.
|
23767994 |
2014 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
We report a novel CRB1 mutation in inherited RD in a Lebanese family, and confirm the considerable phenotype heterogeneity that may exist between individuals sharing the same mutations.
|
23362850 |
2014 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The results suggested that macular nummular pigmentation is a gene-specific indication for CRB1‑associated retinal dystrophy and confirm that CRB1 mutations are also common causes of early onset retinitis pigmentosa.
|
24535598 |
2014 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
CRB1 mutations in 67 patients with sporadic retinal dystrophy were examined with Sanger sequencing.
|
24715753 |
2014 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population.
|
23379534 |
2013 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
CRB1 mutations in inherited retinal dystrophies.
|
22065545 |
2012 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in CRB1 are associated with a range of recessively inherited retinal dystrophies, including LCA, childhood- and juvenile-onset rod-cone and cone-rod dystrophies.
|
20956273 |
2011 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Clinical analysis of additional subjects with retinal dystrophies due to CRB1 mutations will help to identify if the high hyperopia, a frequently observed trait in these subjects, could be related to decreased eye axial length (nanophthalmos).
|
21484995 |
2011 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
CLINVAR |
Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
|
20591486 |
2010 |
|
Retinal Dystrophies
|
0.200 |
Biomarker
|
group |
BEFREE |
Leber congenital amaurosis caused by CRB1 is a unique form of early-onset retinal dystrophy because it spares the para-arteriolar RPE and causes abnormal retinal lamination with thickening.
|
19401883 |
2009 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (e.g., RP12), RP with Coats-like exudative vasculopathy, and pigmented paravenous retinochoroidal atrophy.
|
17234588 |
2007 |
|
Retinal Dystrophies
|
0.200 |
CausalMutation
|
group |
CLINVAR |
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
|
18055820 |
2007 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In total, 71 different sequence variants have been identified on 184 CRB1 alleles of patients with retinal dystrophies, including amino acid substitutions, frameshift, nonsense, and splice site mutations, in-frame deletions, and large insertions.
|
15459956 |
2004 |
|
Retinal Dystrophies
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in the human transmembrane protein CRB1 are associated with severe forms of retinal dystrophy, retinitis pigmentosa 12 (RP12), and Leber's congenital amaurosis (LCA).
|
12361571 |
2002 |