138 related articles for article (PubMed ID: 36246827)
1. Relationship of familial cytochrome P450 4V2 gene mutation with liver cirrhosis: A case report and review of the literature.
Jiang JL; Qian JF; Xiao DH; Liu X; Zhu F; Wang J; Xing ZX; Xu DL; Xue Y; He YH
World J Clin Cases; 2022 Oct; 10(28):10346-10357. PubMed ID: 36246827
[TBL] [Abstract][Full Text] [Related]
2. New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.
Wang T; Chen Q; Yao X; Kuang L; Gan R; Wang J; Yan X
Gene; 2021 Jul; 790():145698. PubMed ID: 33964374
[TBL] [Abstract][Full Text] [Related]
3. Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.
Yin X; Yang L; Chen N; Cui H; Zhao L; Feng L; Li A; Zhang H; Ma Z; Li G
Exp Eye Res; 2016 May; 146():154-162. PubMed ID: 26971461
[TBL] [Abstract][Full Text] [Related]
4. Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.
Lin J; Nishiguchi KM; Nakamura M; Dryja TP; Berson EL; Miyake Y
J Med Genet; 2005 Jun; 42(6):e38. PubMed ID: 15937078
[TBL] [Abstract][Full Text] [Related]
5. Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.
Nakamura M; Lin J; Nishiguchi K; Kondo M; Sugita J; Miyake Y
Adv Exp Med Biol; 2006; 572():49-53. PubMed ID: 17249554
[TBL] [Abstract][Full Text] [Related]
6. Genotype and Ocular Phenotype in Sixteen Chinese Patients with Bietti Corneoretinal Crystalline Dystrophy.
Dai H; Zhang Y; Li R; Li Y; Li G
Curr Eye Res; 2022 Mar; 47(3):436-442. PubMed ID: 34724870
[TBL] [Abstract][Full Text] [Related]
7. Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy.
Song WK; Clouston P; MacLaren RE
Ophthalmic Genet; 2019 Oct; 40(5):461-465. PubMed ID: 31638456
[No Abstract] [Full Text] [Related]
8. [Analysis of phenotype and CYP4V2 gene variants in two pedigrees affected with Bietti crystalline corneoretinal dystrophy].
Xie Y; Bai Z; Sun Z; Gu L; Zhang X; Kong X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Dec; 37(12):1340-1343. PubMed ID: 33306817
[TBL] [Abstract][Full Text] [Related]
9. Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene.
Yokoi Y; Nakazawa M; Mizukoshi S; Sato K; Usui T; Takeuchi K
Acta Ophthalmol; 2010 Aug; 88(5):607-9. PubMed ID: 19508456
[TBL] [Abstract][Full Text] [Related]
10. Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.
Shan M; Dong B; Zhao X; Wang J; Li G; Yang Y; Li Y
Mol Vis; 2005 Sep; 11():738-43. PubMed ID: 16179904
[TBL] [Abstract][Full Text] [Related]
11. Novel mutations in
Meng XH; He Y; Zhao TT; Li SY; Liu Y; Yin ZQ
Mol Vis; 2019; 25():654-662. PubMed ID: 31741654
[TBL] [Abstract][Full Text] [Related]
12. Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.
García-García GP; López-Garrido MP; Martínez-Rubio M; Moya-Moya MA; Belmonte-Martínez J; Escribano J
Cornea; 2013 Jul; 32(7):1002-8. PubMed ID: 23538635
[TBL] [Abstract][Full Text] [Related]
13. A Novel Compound Heterozygous Mutation in the CYP4V2 Gene in a Japanese Patient with Bietti's Crystalline Corneoretinal Dystrophy.
Yokoi Y; Sato K; Aoyagi H; Takahashi Y; Yamagami M; Nakazawa M
Case Rep Ophthalmol; 2011 Sep; 2(3):296-301. PubMed ID: 22087103
[TBL] [Abstract][Full Text] [Related]
14. Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.
Haddad NM; Waked N; Bejjani R; Khoueir Z; Chouery E; Corbani S; Mégarbané A
Mol Vis; 2012; 18():1182-8. PubMed ID: 22605929
[TBL] [Abstract][Full Text] [Related]
15. Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in
Lockhart CM; Smith TB; Yang P; Naidu M; Rettie AE; Nath A; Weleber R; Kelly EJ
Br J Ophthalmol; 2018 Feb; 102(2):187-194. PubMed ID: 28698241
[TBL] [Abstract][Full Text] [Related]
16. Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations.
Wu S; Zhu T; Sun Z; Wei X; Han X; Zou X; Sui R
Stem Cell Res; 2021 May; 53():102330. PubMed ID: 33857831
[TBL] [Abstract][Full Text] [Related]
17. Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients.
Tian R; Wang SR; Wang J; Chen YX
Int J Ophthalmol; 2015; 8(3):465-9. PubMed ID: 26085992
[TBL] [Abstract][Full Text] [Related]
18. Novel CYP4V2 gene mutation in a Mexican patient with Bietti's crystalline corneoretinal dystrophy.
Zenteno JC; Ayala-Ramirez R; Graue-Wiechers F
Curr Eye Res; 2008 Apr; 33(4):313-8. PubMed ID: 18398705
[TBL] [Abstract][Full Text] [Related]
19. Comparative modeling and molecular docking of orphan human CYP4V2 protein with fatty acid substrates: Insights into substrate specificity.
Kumar S
Bioinformation; 2011; 7(7):360-5. PubMed ID: 22355237
[TBL] [Abstract][Full Text] [Related]
20. [Progress in the studies of molecular genetics in Bietti crystalline corneoretinal dystrophy].
Xu F; Sui RF; Dong FT
Zhonghua Yan Ke Za Zhi; 2012 Oct; 48(10):948-51. PubMed ID: 23302251
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
