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260 related items for PubMed ID: 27743313

  • 1. Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
    Burda P, Suormala T, Heuberger D, Schäfer A, Fowler B, Froese DS, Baumgartner MR.
    J Inherit Metab Dis; 2017 Mar; 40(2):297-306. PubMed ID: 27743313
    [Abstract] [Full Text] [Related]

  • 2. Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
    Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR.
    Hum Mutat; 2015 Jun; 36(6):611-21. PubMed ID: 25736335
    [Abstract] [Full Text] [Related]

  • 3. Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
    Froese DS, Huemer M, Suormala T, Burda P, Coelho D, Guéant JL, Landolt MA, Kožich V, Fowler B, Baumgartner MR.
    Hum Mutat; 2016 May; 37(5):427-38. PubMed ID: 26872964
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  • 4. The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
    Goyette P, Rozen R.
    Hum Mutat; 2000 May; 16(2):132-8. PubMed ID: 10923034
    [Abstract] [Full Text] [Related]

  • 5. The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.
    Liu X, Li Y, Wang M, Wang X, Zhang L, Peng T, Liang W, Wang Z, Lu H.
    Aging (Albany NY); 2020 Dec 03; 13(1):1176-1185. PubMed ID: 33290257
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  • 6. 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
    Tsuji M, Takagi A, Sameshima K, Iai M, Yamashita S, Shinbo H, Furuya N, Kurosawa K, Osaka H.
    Brain Dev; 2011 Jun 03; 33(6):521-4. PubMed ID: 20850942
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  • 10. Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
    D'Aco KE, Bearden D, Watkins D, Hyland K, Rosenblatt DS, Ficicioglu C.
    Pediatr Neurol; 2014 Aug 03; 51(2):266-70. PubMed ID: 25079578
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  • 11. [Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].
    Tamura A, Sasaki R, Kagawa K, Nakatani K, Osaka H, Tomimoto H.
    Rinsho Shinkeigaku; 2014 Aug 03; 54(3):200-6. PubMed ID: 24705833
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  • 12. Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.
    Nagarajan H, Narayanaswamy S, Vetrivel U.
    Mutat Res; 2020 Aug 03; 819-820():111687. PubMed ID: 31968288
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  • 13. Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.
    Rommer PS, Zschocke J, Fowler B, Födinger M, Konstantopoulou V, Möslinger D, Stögmann E, Suess E, Baumgartner M, Auff E, Sunder-Plassmann G.
    J Neurol Sci; 2017 Dec 15; 383():123-127. PubMed ID: 29246599
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  • 14. A Glance into MTHFR Deficiency at a Molecular Level.
    Savojardo C, Babbi G, Baldazzi D, Martelli PL, Casadio R.
    Int J Mol Sci; 2021 Dec 23; 23(1):. PubMed ID: 35008593
    [Abstract] [Full Text] [Related]

  • 15. [Molecular genetics of MTHFR: polymorphisms are not all benign].
    Leclerc D, Rozen R.
    Med Sci (Paris); 2007 Mar 23; 23(3):297-302. PubMed ID: 17349292
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  • 16. Retinal Ganglion Cell Loss and Mild Vasculopathy in Methylene Tetrahydrofolate Reductase (Mthfr)-Deficient Mice: A Model of Mild Hyperhomocysteinemia.
    Markand S, Saul A, Roon P, Prasad P, Martin P, Rozen R, Ganapathy V, Smith SB.
    Invest Ophthalmol Vis Sci; 2015 Apr 23; 56(4):2684-95. PubMed ID: 25766590
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  • 17. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
    Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B.
    J Inherit Metab Dis; 2016 Jan 23; 39(1):115-24. PubMed ID: 26025547
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  • 18. Insights on the structural perturbations in human MTHFR Ala222Val mutant by protein modeling and molecular dynamics.
    Abhinand PA, Shaikh F, Bhakat S, Radadiya A, Bhaskar LV, Shah A, Ragunath PK.
    J Biomol Struct Dyn; 2016 Jan 23; 34(4):892-905. PubMed ID: 26273990
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  • 19. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
    Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R.
    Hum Mutat; 2000 Jan 23; 15(3):280-7. PubMed ID: 10679944
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  • 20. Determination and interpretation of MTHFR gene mutations in gynecology and internal medicine.
    Undas A, Chojnowski K, Klukowska A, Łętowska M, Mital A, Młynarski W, Musiał J, Podolak-Dawidziak M, Sąsiadek M, Treliński J, Urasiński T, Windyga J, Zdziarska J, Zawilska K.
    Pol Arch Intern Med; 2019 Oct 30; 129(10):728-732. PubMed ID: 31670725
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