BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 2220818)

  • 21. Multimodal characterization of a novel mutation causing vitamin B6-responsive gyrate atrophy.
    Cui X; Jauregui R; Park KS; Tsang SH
    Ophthalmic Genet; 2018 Aug; 39(4):512-516. PubMed ID: 29757052
    [TBL] [Abstract][Full Text] [Related]  

  • 22. An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.
    Mitchell GA; Brody LC; Looney J; Steel G; Suchanek M; Dowling C; Der Kaloustian V; Kaiser-Kupfer M; Valle D
    J Clin Invest; 1988 Feb; 81(2):630-3. PubMed ID: 3339136
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Foveoschisis associated with gyrate atrophy in ornithine aminotransferase deficiency: A case report.
    Berhuni M; Tıskaoğlu NS
    Photodiagnosis Photodyn Ther; 2023 Jun; 42():103618. PubMed ID: 37209764
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Expression of human ornithine aminotransferase (OAT) in OAT-deficient Chinese hamster ovary cells and fibroblasts of gyrate atrophy patient.
    Hotta Y; Inana G
    Jpn J Ophthalmol; 1992; 36(1):28-32. PubMed ID: 1635292
    [TBL] [Abstract][Full Text] [Related]  

  • 25. OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina.
    Katagiri S; Gekka T; Hayashi T; Ida H; Ohashi T; Eto Y; Tsuneoka H
    Doc Ophthalmol; 2014 Apr; 128(2):137-48. PubMed ID: 24429551
    [TBL] [Abstract][Full Text] [Related]  

  • 26. At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.
    Mitchell GA; Brody LC; Sipila I; Looney JE; Wong C; Engelhardt JF; Patel AS; Steel G; Obie C; Kaiser-Kupfer M
    Proc Natl Acad Sci U S A; 1989 Jan; 86(1):197-201. PubMed ID: 2492100
    [TBL] [Abstract][Full Text] [Related]  

  • 27. The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.
    Ramesh V; Benoit LA; Crawford P; Harvey PT; Shows TB; Shih VE; Gusella JF
    Am J Hum Genet; 1988 Feb; 42(2):365-72. PubMed ID: 2893548
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Gyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case report.
    Kim SJ; Lim DH; Kim JH; Kang SW
    Korean J Ophthalmol; 2013 Oct; 27(5):388-91. PubMed ID: 24082780
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Correction of ornithine-delta-aminotransferase deficiency in a Chinese hamster ovary cell line mediated by retrovirus gene transfer.
    Lacorazza HD; Jendoubi M
    Gene Ther; 1995 Jan; 2(1):22-8. PubMed ID: 7712330
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.
    Ramesh V; McClatchey AI; Ramesh N; Benoit LA; Berson EL; Shih VE; Gusella JF
    Proc Natl Acad Sci U S A; 1988 Jun; 85(11):3777-80. PubMed ID: 3375240
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.
    Hotta Y; Kennaway NG; Weleber RG; Inana G
    Am J Hum Genet; 1989 Mar; 44(3):353-7. PubMed ID: 2916581
    [TBL] [Abstract][Full Text] [Related]  

  • 32. First report of c.425-1G>A mutation in ornithine aminotransferase gene causing gyrate atrophy of the choroid and retina with hyperornithinemia.
    Jalali H; Najafi M; Khoshaeen A; Mahdavi MR; Mahdavi M
    Eur J Ophthalmol; 2021 Sep; 31(5):NP23-NP26. PubMed ID: 32418451
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [Molecular genetics of gyrate atrophy].
    Inana G; Inoue I; Totsuka S; Zintz C; Hotta Y; Shiono T; Nakayasu K; Nakajima A; Ohura T; Kominami E
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):518-22. PubMed ID: 3270857
    [No Abstract]   [Full Text] [Related]  

  • 34. Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.
    Doimo M; Desbats MA; Baldoin MC; Lenzini E; Basso G; Murphy E; Graziano C; Seri M; Burlina A; Sartori G; Trevisson E; Salviati L
    Hum Mutat; 2013 Jan; 34(1):229-36. PubMed ID: 23076989
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular basis of ornithine aminotransferase defect in gyrate atrophy.
    Inana G; Hotta Y; Zintz C; Chambers C; Kennaway NG; Weleber RG; Nakajima A; Shiono T
    Prog Clin Biol Res; 1991; 362():191-219. PubMed ID: 1672235
    [No Abstract]   [Full Text] [Related]  

  • 36. Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase.
    Peltola KE; Näntö-Salonen K; Heinonen OJ; Jääskeläinen S; Heinänen K; Simell O; Nikoskelainen E
    Ophthalmology; 2001 Apr; 108(4):721-9. PubMed ID: 11297489
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Mice lacking ornithine-delta-aminotransferase have paradoxical neonatal hypoornithinaemia and retinal degeneration.
    Wang T; Lawler AM; Steel G; Sipila I; Milam AH; Valle D
    Nat Genet; 1995 Oct; 11(2):185-90. PubMed ID: 7550347
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Reversal of cystoid macular edema in gyrate atrophy patients.
    Heller D; Weiner C; Nasie I; Anikster Y; Landau Y; Koren T; Pokroy R; Abulafia A; Pras E
    Ophthalmic Genet; 2017 Dec; 38(6):549-554. PubMed ID: 28388263
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Gyrate atrophy: clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation.
    Renner AB; Walter A; Fiebig BS; Jägle H
    Doc Ophthalmol; 2012 Aug; 125(1):81-9. PubMed ID: 22674428
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.
    Michaud J; Thompson GN; Brody LC; Steel G; Obie C; Fontaine G; Schappert K; Keith CG; Valle D; Mitchell GA
    Am J Hum Genet; 1995 Mar; 56(3):616-22. PubMed ID: 7887415
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.