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Clinical Ophthalmology, ISSN 1177-5483, 07/2019, Volume 13, pp. 1379 - 1399
Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 gene and characterized by the presence of multiple shimmering... 
Atrophy | Fibroblasts | Mutation | Metabolism | Patients | retinal deposits | corneal deposits | Bietti crystalline dystrophy | CYP4V2 gene
Journal Article
Journal of Current Ophthalmology, ISSN 2452-2325, 06/2019, Volume 31, Issue 2, pp. 172 - 179
To report the genetic analysis of an Iranian Bietti crystalline dystrophy (BCD)-affected family, and to review previously reported mutations in the gene and... 
CYP4V2 mutations | BCD | p.Glu407 | Bietti crystalline dystrophy | CYP4V2
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 1044 - 1049
PURPOSE. We investigate whether choriocapillaris deficits can be visualized in patients with retinitis pigmentosa (RP) using wide-angle swept-source optical... 
swept-source OCT | BIETTI CRYSTALLINE DYSTROPHY | optical coherence tomography angiography | SPECTRAL-DOMAIN | choriocapillaris | retinitis pigmentosa | OPHTHALMOLOGY | MACULAR DEGENERATION | CYP4V2 MUTATIONS | retinal pigment epithelium | NEOVASCULARIZATION
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2019, Volume 2019, pp. 2097087 - 7
Purpose. Several studies have indicated morphological changes in the choroid in amblyopia cases. This study investigates whether choroidal vasculature was... 
MEDICINE, RESEARCH & EXPERIMENTAL | BIETTI CRYSTALLINE DYSTROPHY | CHILDRENS EYES | OPHTHALMOLOGY | CYP4V2 MUTATIONS | LUTEIN | RETINITIS-PIGMENTOSA | THICKNESS | FEATURES
Journal Article
Molecular Medicine Reports, ISSN 1791-2997, 12/2018, Volume 18, Issue 6, pp. 4865 - 4876
Cytochrome P450 family 4 (CYP4) enzymes are known as microsomal omega ()-hydroxylases that metabolize fatty acids, eicosanoids, vitamin D and carcinogens.... 
Hepatocellular carcinoma | Prognosis | Diagnosis | Cytochrome P450 family 4 | MEDICINE, RESEARCH & EXPERIMENTAL | diagnosis | PATTERNS | prognosis | cytochrome P450 family 4 | BREAST-CANCER | METABOLISM | ONCOLOGY | CYP4V2 | ENZYMES | hepatocellular carcinoma | PROGRESSION | SUBFAMILY | Immunohistochemistry | Carcinoma, Hepatocellular - mortality | Multigene Family | Liver Neoplasms - genetics | Humans | Middle Aged | RNA, Messenger - genetics | Gene Expression Regulation, Neoplastic | Transcriptome | Male | Gene Expression Profiling | Liver Neoplasms - mortality | Cytochrome P450 Family 4 - metabolism | Neoplasm Grading | Carcinoma, Hepatocellular - genetics | Carcinoma, Hepatocellular - pathology | Liver Neoplasms - metabolism | Adult | Female | Liver Neoplasms - pathology | Aged | Neoplasm Staging | Carcinoma, Hepatocellular - metabolism | Cytochrome P450 Family 4 - genetics | Genetic aspects | Research | Hepatoma | Gene expression | Cytochrome P-450 | Cytochrome | Eicosanoids | Infections | Genomes | Multivariate analysis | Medical diagnosis | Clinical outcomes | Metastases | Confidence intervals | Variables | Liver cancer | Hepatitis | Carcinogens | Vitamin D | Cell cycle | Enzymes | Cytochrome P450 | Fatty acids | Survival analysis | Medical prognosis | Protein expression | Software | Viral infections | Index Medicus
Journal Article
Journal Article
Zhonghua Shiyan Yanke Zazhi/Chinese Journal of Experimental Ophthalmology, ISSN 2095-0160, 07/2018, Volume 36, Issue 7, pp. 559 - 563
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 2018, Volume 115, Issue 15, pp. 3936 - 3941
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 04/2018, Volume 115, Issue 15, pp. 3936 - 3941
Journal Article
The British journal of ophthalmology, ISSN 0007-1161, 02/2018, Volume 102, Issue 2, pp. 187 - 194
Journal Article
Journal Article
Journal of Ophthalmology, ISSN 2090-004X, 2017, Volume 2017, pp. 4156386 - 4156386
Purpose. To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes. Methods.... 
MEDICINE, RESEARCH & EXPERIMENTAL | HPRP3 | OPHTHALMOLOGY | PRPF31 | MUTATIONS | SPLICING-FACTOR GENES | JAPANESE PATIENTS | IDENTIFICATION | CYP4V2 GENE | SPANISH FAMILIES | Family | Genetic aspects | Nucleotide sequencing | Cytochrome P-450 | Medical genetics | DNA sequencing
Journal Article
Journal Article