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210 related items for PubMed ID: 27684817

  • 1. Three cases of congenital dysfibrinogenemia in unrelated Chinese families: heterozygous missense mutation in fibrinogen alpha chain Argl6His.
    Luo M, Deng D, Xiang L, Cheng P, Liao L, Deng X, Yan J, Lin F.
    Medicine (Baltimore); 2016 Sep; 95(39):e4864. PubMed ID: 27684817
    [Abstract] [Full Text] [Related]

  • 2. Fibrinogen Nový Jicín and Praha II: cases of hereditary Aalpha 16 Arg-->Cys and Aalpha 16 Arg-->His dysfibrinogenemia.
    Kotlín R, Chytilová M, Suttnar J, Riedel T, Salaj P, Blatný J, Santrůcek J, Klener P, Dyr JE.
    Thromb Res; 2007 Sep; 121(1):75-84. PubMed ID: 17408725
    [Abstract] [Full Text] [Related]

  • 3. A novel mutation in the fibrinogen Aα chain (Gly13Arg, fibrinogen Nanning) causes congenital dysfibrinogenemia associated with defective peptide A release.
    Yan J, Luo M, Cheng P, Liao L, Deng X, Deng D, Lin F.
    Int J Hematol; 2017 Apr; 105(4):506-514. PubMed ID: 27933517
    [Abstract] [Full Text] [Related]

  • 4. [Genotype and function analyses of four inherited dysfibrinogenemia pedigree caused by Arg16 amino acid substitution in fibrinogen Aα chain].
    Jiang LL, Wang XF, Ding QL, Xu GQ, Zhang LW, Dai J, Lu YL, Xi XD, Wang HL.
    Zhonghua Xue Ye Xue Za Zhi; 2012 Jun; 33(6):475-9. PubMed ID: 22967385
    [Abstract] [Full Text] [Related]

  • 5. [Functional study of abnormal fibrinogen caused by Arg275His mutation in fibrinogen γ chain].
    Zhou JY, Wang XF, Ding QL, Xu GQ, Zhang LW, Dai J, Lu YL, Xi XD, Wang HL.
    Zhonghua Xue Ye Xue Za Zhi; 2013 Mar; 34(3):190-4. PubMed ID: 23683413
    [Abstract] [Full Text] [Related]

  • 6. Dysfibrinogenemia in childhood: two cases of congenital dysfibrinogens.
    Kotlín R, Blažek B, Suttnar J, Malý M, Kvasnička J, Dyr JE.
    Blood Coagul Fibrinolysis; 2010 Oct; 21(7):640-8. PubMed ID: 20829681
    [Abstract] [Full Text] [Related]

  • 7. A novel fibrinogen variant--Liberec: dysfibrinogenaemia associated with gamma Tyr262Cys substitution.
    Kotlín R, Sobotková A, Suttnar J, Salaj P, Walterová L, Riedel T, Reicheltová Z, Dyr JE.
    Eur J Haematol; 2008 Aug; 81(2):123-9. PubMed ID: 18485115
    [Abstract] [Full Text] [Related]

  • 8. Abnormal fibrinogen with an Aα 16Arg → Cys substitution is associated with multiple cerebral infarctions.
    Luo M, Wei A, Xiang L, Yan J, Liao L, Deng X, Deng D, Cheng P, Lin F.
    J Thromb Thrombolysis; 2018 Oct; 46(3):409-419. PubMed ID: 29869737
    [Abstract] [Full Text] [Related]

  • 9. Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'.
    Vorjohann S, Fish RJ, Biron-Andréani C, Nagaswami C, Weisel JW, Boulot P, Reyftmann L, de Moerloose P, Neerman-Arbez M.
    Thromb Haemost; 2010 Nov; 104(5):990-7. PubMed ID: 20806111
    [Abstract] [Full Text] [Related]

  • 10. Dysfibrinogenemia-associated novel heterozygous mutation, Shanghai (FGA c.169_180+2 del), leads to N-terminal truncation of fibrinogen Aα chain and impairs fibrin polymerization.
    Zhou J, Ding Q, Wu W, Ouyang Q, Xie Y, Wu X, Lu Y, Dai J, Liang Q, Wang H, Wang X, Hu Y.
    J Clin Pathol; 2017 Feb; 70(2):145-153. PubMed ID: 27555433
    [Abstract] [Full Text] [Related]

  • 11. [Functional analysis for dysfibrinogenemias, Toyama and Adachi, which have a mutation of Aalpha16Arg-->His (CGT-->CAT) with aberrant fibrinopeptide A release].
    Soya K, Takezawa Y, Terasawa F, Okumura N.
    Rinsho Byori; 2012 Jun; 60(6):499-505. PubMed ID: 22880226
    [Abstract] [Full Text] [Related]

  • 12. Congenital dysfibrinogenemia caused by γAla327Val mutation: structural abnormality of D region.
    Wei A, Wu Y, Xiang L, Yan J, Cheng P, Deng D, Lin F.
    Hematology; 2021 Dec; 26(1):305-311. PubMed ID: 33663356
    [Abstract] [Full Text] [Related]

  • 13. Fibrinogen Šumperk II: dysfibrinogenemia in an individual with two coding mutations.
    Kotlín R, Suttnar J, Cápová I, Hrachovinová I, Urbánková M, Dyr JE.
    Am J Hematol; 2012 May; 87(5):555-7. PubMed ID: 22407772
    [Abstract] [Full Text] [Related]

  • 14. [Analysis of phenotype and genotype in three Chinese pedigrees with inherited dysfibrinogenemia].
    Ouyang Q, Ding QL, Huang DD, Xu GQ, Zhang LW, Dai J, Lu YL, Wang XF, Xi XD, Wang HL.
    Zhonghua Xue Ye Xue Za Zhi; 2011 Mar; 32(3):153-7. PubMed ID: 21535951
    [Abstract] [Full Text] [Related]

  • 15. A novel fibrinogen variant: dysfibrinogenemia associated with γAsp185Asn substitution.
    Zhou N, Xu P, Zhou M, Xu Y, Li P, Chen B, Ouyang J, Zhou R.
    J Thromb Thrombolysis; 2017 Jul; 44(1):139-144. PubMed ID: 28425010
    [Abstract] [Full Text] [Related]

  • 16. Differences in the function and secretion of congenital aberrant fibrinogenemia between heterozygous γD320G (Okayama II) and γΔN319-ΔD320 (Otsu I).
    Mukai S, Ikeda M, Takezawa Y, Sugano M, Honda T, Okumura N.
    Thromb Res; 2015 Dec; 136(6):1318-24. PubMed ID: 26573395
    [Abstract] [Full Text] [Related]

  • 17. [Genetic Analysis of A Case of Congenital Dysfibrinogenemia Caused by Arg16His Mutation in Exon 2 of FGA].
    Zhang YL, Liu SY, Zhang ZL, Tao XY, Peng XX, Kong YY.
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2017 Oct; 25(5):1514-1517. PubMed ID: 29070135
    [Abstract] [Full Text] [Related]

  • 18. Fibrinogen Mahdia: A congenitally abnormal fibrinogen characterized by defective fibrin polymerization.
    Amri Y, Jouini H, Becheur M, Dabboubi R, Mahjoub B, Messaoud T, Sfar MT, Casini A, de Moerloose P, Toumi NEH.
    Haemophilia; 2017 Jul; 23(4):e340-e347. PubMed ID: 28594476
    [Abstract] [Full Text] [Related]

  • 19. Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes.
    Bin Q, Liang F, Ou DY, Cui HR, Luo JM.
    Blood Coagul Fibrinolysis; 2015 Jul; 26(5):564-71. PubMed ID: 25828970
    [Abstract] [Full Text] [Related]

  • 20. Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.
    Casini A, Neerman-Arbez M, Ariëns RA, de Moerloose P.
    J Thromb Haemost; 2015 Jun; 13(6):909-19. PubMed ID: 25816717
    [Abstract] [Full Text] [Related]

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