These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

172 related articles for article (PubMed ID: 1682785)

  • 1. Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.
    Ramesh V; Gusella JF; Shih VE
    Mol Biol Med; 1991 Feb; 8(1):81-93. PubMed ID: 1682785
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.
    Park JK; O'Donnell JJ; Shih VE; Gusella JF; Ramesh V
    Hum Mutat; 1992; 1(4):293-7. PubMed ID: 1301936
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Rapid and efficient molecular analysis of gyrate atrophy using denaturing gradient gel electrophoresis.
    Mashima Y; Shiono T; Inana G
    Invest Ophthalmol Vis Sci; 1994 Mar; 35(3):1065-70. PubMed ID: 8125717
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
    McClatchey AI; Kaufman DL; Berson EL; Tobin AJ; Shih VE; Gusella JF; Ramesh V
    Am J Hum Genet; 1990 Nov; 47(5):790-4. PubMed ID: 2220818
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expression defect of ornithine aminotransferase gene in gyrate atrophy.
    Inana G; Hotta Y; Zintz C; Takki K; Weleber RG; Kennaway NG; Nakayasu K; Nakajima A; Shiono T
    Invest Ophthalmol Vis Sci; 1988 Jul; 29(7):1001-5. PubMed ID: 3417397
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.
    Mashima Y; Shiono T; Tamai M; Inana G
    Curr Eye Res; 1996 Jul; 15(7):792-6. PubMed ID: 8670789
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular genetics of ornithine aminotransferase defect in gyrate atrophy.
    Inana G; Hotta Y; Zintz C; Nakajima A; Shiono T; Kennaway NG; Weleber RG
    Prog Clin Biol Res; 1989; 314():99-111. PubMed ID: 2575258
    [No Abstract]   [Full Text] [Related]  

  • 11. Retinal structure, function, and molecular pathologic features in gyrate atrophy.
    Sergouniotis PI; Davidson AE; Lenassi E; Devery SR; Moore AT; Webster AR
    Ophthalmology; 2012 Mar; 119(3):596-605. PubMed ID: 22182799
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Chromosomal localization of human ornithine aminotransferase gene sequences to 10q26 and Xp11.2.
    Barrett DJ; Bateman JB; Sparkes RS; Mohandas T; Klisak I; Inana G
    Invest Ophthalmol Vis Sci; 1987 Jul; 28(7):1037-42. PubMed ID: 3596985
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.
    Heinänen K; Näntö-Salonen K; Leino L; Pulkki K; Heinonen O; Valle D; Simell O
    Pediatr Res; 1998 Sep; 44(3):381-5. PubMed ID: 9727717
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.
    Brody LC; Mitchell GA; Obie C; Michaud J; Steel G; Fontaine G; Robert MF; Sipila I; Kaiser-Kupfer M; Valle D
    J Biol Chem; 1992 Feb; 267(5):3302-7. PubMed ID: 1737786
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.
    Montioli R; Desbats MA; Grottelli S; Doimo M; Bellezza I; Borri Voltattorni C; Salviati L; Cellini B
    Biochim Biophys Acta Mol Basis Dis; 2018 Nov; 1864(11):3629-3638. PubMed ID: 30251682
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.
    Montioli R; Bellezza I; Desbats MA; Borri Voltattorni C; Salviati L; Cellini B
    Biochim Biophys Acta Proteins Proteom; 2021 Jan; 1869(1):140555. PubMed ID: 33068755
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.
    Mashima Y; Weleber RG; Kennaway NG; Inana G
    Hum Genet; 1992 Nov; 90(3):305-7. PubMed ID: 1487247
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.