|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
Biomarker
|
disease |
BEFREE |
Without adopting BCD (bipolar-CMOS-DMOS) technology, the output voltage can be boosted over the breakdown voltage of n-well/substrate diode using triple-well NMOS (n-type metal-oxide-semiconductor) transistors.
|
31557820 |
2019 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic results of the patient and his father showed homozygous for CYP4V2, c. 197T>G p.(Met66Arg) confirming the diagnosis of BCD.<b>Conclusions</b>: The patient's pedigree shows pseudodominant inheritance due to consanguineous parents.
|
31638456 |
2019 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
Biomarker
|
disease |
BEFREE |
In this paper, we present the design and characterization of two microelectronics-compatible SiPMs fabricated in a 0.16 µm⁻BCD (Bipolar-CMOS-DMOS) technology, with 0.67 mm × 0.67 mm total area, 10 × 10 square pixels and 53% fill-factor (FF).
|
30400328 |
2018 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results show that analysis of CYP4V2 variants is required for a reliable diagnosis of BCD.
|
29691984 |
2018 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
Biomarker
|
disease |
BEFREE |
Interestingly, two causative genes, CTNNA1 and CYP4V2, previously reported to cause butterfly-shaped pigment dystrophy (BSPD) and Bietti's crystalline dystrophy (BCD), respectively, were detected in two other patients.
|
28453600 |
2017 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nine eyes of nine BCD patients with CYP4V2 mutations (BCD group) were examined.
|
27658286 |
2017 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This prospective case-series study included consecutive nine eyes of nine BCD patients with CYP4V2 mutations (BCD group), 16 eyes of 16 RP patients with EYS mutations (EYS-RP group), and 16 eyes of 16 normal volunteers matched for age and axial length (control group).
|
28763560 |
2017 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.
|
28051075 |
2017 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.
|
28051075 |
2017 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
Biomarker
|
disease |
BEFREE |
Evaluation of Photoreceptors in Bietti Crystalline Dystrophy with CYP4V2 Mutations Using Adaptive Optics Scanning Laser Ophthalmoscopy.
|
26521715 |
2016 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient.
|
26865810 |
2016 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings broaden the spectrum of CYP4V2 mutations that cause BCD and the phenotypic spectrum of the disease in Chinese families.
|
26971461 |
2016 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.
|
26971461 |
2016 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A 34-year-old woman with BCD and mutations in CYP4V2 (c.802-8_806del13/p.H331P:c992A>C) underwent a complete ophthalmic examination, full-field flash electroretinography (ERG), kinetic and two-color dark-adapted perimetry, and dark-adaptometry.
|
27028354 |
2016 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients.
|
26085992 |
2015 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy.
|
25611614 |
2015 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
|
25629076 |
2015 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing.
|
25356976 |
2015 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with BCD, with no clear link established between disease phenotype and genotype.
|
25593508 |
2014 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
Biomarker
|
disease |
MGD |
Bietti crystalline dystrophy (BCD) is a rare, autosomal recessive, progressive, degenerative eye disease caused by mutations in the CYP4V2 gene, for which no treatments are currently available.
|
25118264 |
2014 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.
|
24739949 |
2014 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All 17 patients with BCD had mutations in CYP4V2; one of these mutations was novel (c.219T>A, p.F73L) and four other mutations had been reported.
|
24739949 |
2014 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.
|
25593508 |
2014 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.
|
23242590 |
2013 |
|
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene.
|
23793346 |
2013 |