Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
Following a broad panel of immunohistochemical stains, the strong positive staining of the spindle cells for LCA (CD45), CD20, and Bcl-6 confirmed the diagnosis of follicle center cell lymphoma.
|
31693188 |
2020 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Currently, more than 20 LCA genes have been identified, and genetic testing can now successfully identify the genetic defects in at least 75% of all LCA cases.
|
27010695 |
2016 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Children with strictly defined LCA with novel mutations of known LCA genes identified by targeted next-generation sequencing (NGS) and a prediction of pathogenicity (in silico) were included in this study (2013-2015).
|
27422788 |
2016 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
RD3 (LCA12) was implicated as a LCA gene based on the identification of homozygous truncating mutations in two LCA families despite the screening of large cohorts of patients.
|
23308101 |
2013 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Whole-exome sequencing detected mutations in the 19 known LCA genes in approximately half of Chinese families with LCA.
|
23661368 |
2013 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The mutational screenings of RPE65 and other LCA genes are requisite in support of emerging gene specific therapy for LCA.
|
24066033 |
2013 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we developed a comprehensive molecular test for LCA based on targeted MPS of all exons of 16 known LCA genes.
|
22261762 |
2012 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Twelve LCA genes have been identified, three of which account for Type I and nine for LCA type II.
|
20104588 |
2010 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The data obtained from this study will help clinicians provide counseling on visual prognosis to patients with known mutations in LCA genes and be of value in future studies aimed at the treatment of LCA and early childhood-onset RP.
|
20079931 |
2010 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to perform a comprehensive survey of all known Leber congenital amaurosis (LCA) genes and loci in a collection of 37 consanguineous LCA families from Saudi Arabia.
|
18936139 |
2009 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
CEP290 (15%), GUCY2D (12%), and CRB1 (10%) are the most frequently mutated LCA genes; one intronic CEP290 mutation (p.Cys998X) is found in approximately 20% of all LCA patients from north-western Europe, although this frequency is lower in other populations.
|
18632300 |
2008 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This patient cohort was highly selected, as mutations in the known genes had been excluded with the LCA mutation chip, or a significant number of LCA genes had been excluded by comprehensive mutation analysis.
|
18055821 |
2007 |
Amaurosis congenita of Leber, type 1
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Further screening of LCA patients unlinked to any of the four already identified LCA genes (n=86) identified seven additional mutations in six of them.
|
11528500 |
2001 |
Amaurosis congenita of Leber, type 1
|
0.100 |
Biomarker
|
disease |
BEFREE |
H and S-R cells were CD30+, CD15+ (85% of the cases) and LCA (CD45).
|
8750633 |
1995 |