A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti’s crystalline dystrophy

[1]  S. Halford,et al.  Focus on molecules: cytochrome P450 family 4, subfamily V, polypeptide 2 (CYP4V2). , 2012, Experimental eye research.

[2]  R. Weleber,et al.  Bietti’s Crystalline Dystrophy , 2012, Hereditary Chorioretinal Disorders.

[3]  Xueshan Xiao,et al.  Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. , 2011, Biochemical and biophysical research communications.

[4]  F. Testa,et al.  An Atypical Form of Bietti Crystalline Dystrophy , 2011, Ophthalmic genetics.

[5]  V. Yarov-Yarovoy,et al.  Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states. , 2011, Molecular interventions.

[6]  A. Rettie,et al.  Finding Homes for Orphan Cytochrome P 450 s : CYP 4 V 2 and CYP 4 F 22 in Disease States , 2011 .

[7]  Kimio Takeuchi,et al.  Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene , 2009, Acta ophthalmologica.

[8]  A. Rettie,et al.  Expression and Characterization of CYP4V2 as a Fatty Acid ω-Hydroxylase , 2009, Drug Metabolism and Disposition.

[9]  J. Zenteno,et al.  Novel CYP4V2 Gene Mutation in a Mexican Patient with Bietti's Crystalline Corneoretinal Dystrophy , 2008, Current Eye Research.

[10]  T. Lai,et al.  Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. , 2007, Investigative ophthalmology & visual science.

[11]  S. Halford,et al.  Novel mutations in the CYP4v2 gene associated with Bietti crystalline corneoretinal dystrophy , 2007 .

[12]  A M Mansour,et al.  Long-term follow-up in Bietti crystalline dystrophy. , 2007, European journal of ophthalmology.

[13]  Y. Inoue,et al.  Clinical and Molecular Findings in Three Japanese Patients with Crystalline Retinopathy , 2006, Japanese Journal of Ophthalmology.

[14]  T. Aung,et al.  Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. , 2005, Investigative ophthalmology & visual science.

[15]  Takaaki Hayashi,et al.  CYP4V2 Mutations in Two Japanese Patients with Bietti’s Crystalline Dystrophy , 2005, Ophthalmic Research.

[16]  T. Dryja,et al.  Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy , 2005, Journal of Medical Genetics.

[17]  F. Munier,et al.  BIETTI’S CRYSTALLINE CORNEORETINAL DYSTROPHY: A CROSS-SECTIONAL STUDY , 2004, Retina.

[18]  M. Kaiser-Kupfer,et al.  Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. , 2004, American journal of human genetics.

[19]  J. Dumit.  Drugs for life. , 2002, Molecular interventions.

[20]  J. Alessandri,et al.  Alterations in fatty acid composition of tissue phospholipids in the developing retinal dystrophic rat , 2001, Lipids.

[21]  B. Jurklies,et al.  [Corneoretinal dystrophy (Bietti)-- Long-term course of one patient over a period of 30 years, and interindividual variability of clinical and electrophysiological findings in two patients]. , 2001, Klinische Monatsblatter fur Augenheilkunde.

[22]  M. Kaiser-Kupfer,et al.  The metabolism of fatty acids in human Bietti crystalline dystrophy. , 2001, Investigative ophthalmology & visual science.

[23]  M. Kaiser-Kupfer,et al.  Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. , 2000, American journal of human genetics.

[24]  M. Kaiser-Kupfer,et al.  Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). , 1998, Molecular genetics and metabolism.

[25]  D. Wolf,et al.  Sperm abnormalities in retinitis pigmentosa. , 1997, Investigative ophthalmology & visual science.

[26]  M. Kaiser-Kupfer,et al.  Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy. , 1994, American journal of ophthalmology.

[27]  G. Acland,et al.  Plasma lipid abnormalities in the miniature poodle with progressive rod-cone degeneration. , 1991, Experimental eye research.

[28]  R. Welch,et al.  Bietti's crystalline dystrophy. A clinicopathologic correlative study. , 1989, Archives of ophthalmology.

[29]  D. Hu.  Ophthalmic Genetics in China , 1983 .

[30]  D. Hu,et al.  Genetic aspects of retinitis pigmentosa in China. , 1982, American journal of medical genetics.

[31]  R. Welch.  Bietti's tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. , 1977, Transactions of the American Ophthalmological Society.

[32]  A. Krill,et al.  Retinitis punctata albescens. A functional evaluation of an unusual case. , 1962, American journal of ophthalmology.