BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 32418451)

  • 1. 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]  

  • 2. Gyrate Atrophy of the Choroid and Retina: A Review.
    Elnahry AG; Elnahry GA
    Eur J Ophthalmol; 2022 May; 32(3):1314-1323. PubMed ID: 34894815
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Diagnostic value of a combination of next-generation sequencing, chorioretinal imaging and metabolic analysis: lessons from a consanguineous Chinese family with gyrate atrophy of the choroid and retina stemming from a novel OAT variant.
    Huang J; Fu J; Fu S; Yang L; Nie K; Duan C; Cheng J; Li Y; Lv H; Chen R; Liu L; Fu J
    Br J Ophthalmol; 2019 Mar; 103(3):428-435. PubMed ID: 30366948
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in
    Sen S; Kannan SK; Shanmugam U; Rajan R; Babu N; Vanniarajan A
    Ophthalmic Genet; 2021 Jun; 42(3):300-303. PubMed ID: 33463379
    [No Abstract]   [Full Text] [Related]  

  • 6. Gyrate atrophy of the choroid and retina.
    Hasanoğlu A; Biberoğlu G; Tümer L
    Turk J Pediatr; 1996; 38(2):253-6. PubMed ID: 8701494
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up.
    Santinelli R; Costagliola C; Tolone C; D'Aloia A; D'Avanzo A; Prisco F; Perrone L; del Giudice EM
    J Inherit Metab Dis; 2004; 27(2):187-96. PubMed ID: 15159649
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the
    Zekušić M; Škaričić A; Fumić K; Rogić D; Žigman T; Petković Ramadža D; Vukojević N; Rüfenacht V; Uroić V; Barić I
    Biochem Med (Zagreb); 2018 Oct; 28(3):030801. PubMed ID: 30429681
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Gyrate atrophy of the choroid and retina with hyperornithinemia: characterization of mutant liver L-ornithine:2-oxoacid aminotransferase kinetics.
    Sipilä I; Simell O; O'Donnell JJ
    J Clin Invest; 1981 Jun; 67(6):1805-7. PubMed ID: 7240420
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel c.980C>G variant in
    Magliyah M; Alsalamah AK; AlOtaibi M; Nowilaty SR
    Ophthalmic Genet; 2021 Apr; 42(2):204-208. PubMed ID: 33243052
    [No Abstract]   [Full Text] [Related]  

  • 14. Gyrate atrophy of the choroid and retina: deficiency of ornithine aminotransferase in transformed lymphocytes.
    Valle D; Kaiser-Kupfer MI; Del Valle LA
    Proc Natl Acad Sci U S A; 1977 Nov; 74(11):5159-61. PubMed ID: 270753
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Gyrate atrophy of the choroid and retina: a case report].
    Lahbil D; Hamdani M; D'khissy M; El Belhadji M; Rachid R; Laouissi N; Zaghloul K; Amraoui A
    J Fr Ophtalmol; 2000 Oct; 23(8):788-93. PubMed ID: 11033500
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Case of Foveoschisis Associated with Ornithine Aminotransferase Deficiency and Gyrate Atrophy.
    Ozcaliskan S; Balci S; Artunay O
    J Coll Physicians Surg Pak; 2021 Nov; 31(11):1354-1356. PubMed ID: 34689497
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Gyrate atrophy of choroid and retina, and hyperornithinemia].
    Sela BA; Zlotnik J; Masos T; Yablonski G; Abraham F
    Harefuah; 2000 Jan; 138(2):101-5, 175. PubMed ID: 10883069
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.
    Shih VE; Berson EL; Mandell R; Schmidt SY
    Am J Hum Genet; 1978 Mar; 30(2):174-9. PubMed ID: 655164
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration.
    Kaiser-Kupfer MI; Caruso RC; Valle D
    Arch Ophthalmol; 1991 Nov; 109(11):1539-48. PubMed ID: 1755734
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.