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Journal Abstract Search

199 related items for PubMed ID: 18005151

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  • 44. A type II mutation (Glu117stop), induction of allele-specific mRNA degradation and factor XI deficiency.
    Soldà G, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.
    Haematologica; 2005 Dec; 90(12):1716-8. PubMed ID: 16330457
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  • 45. The spectrum of factor XI deficiency in Italy.
    Castaman G, Giacomelli SH, Caccia S, Riccardi F, Rossetti G, Dragani A, Giuffrida AC, Biasoli C, Duga S.
    Haemophilia; 2014 Jan; 20(1):106-13. PubMed ID: 24112640
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  • 47. Thrombin generation in patients with factor XI deficiency and clinical bleeding risk.
    Rugeri L, Quélin F, Chatard B, De Mazancourt P, Negrier C, Dargaud Y.
    Haemophilia; 2010 Sep 01; 16(5):771-7. PubMed ID: 20398070
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  • 48. Factor XI deficiency.
    Gomez K, Bolton-Maggs P.
    Haemophilia; 2008 Nov 01; 14(6):1183-9. PubMed ID: 18312365
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  • 50. Congenital factor XI deficiency caused by a novel F11 missense variant: a case report.
    Gotovac Jerčić K, Blažeković A, Hančević M, Bilić E, Borovečki F.
    Croat Med J; 2020 Feb 29; 61(1):62-65. PubMed ID: 32118380
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  • 51. Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency.
    Spena S, Asselta R, Caccia S, Rimoldi V, Giacomelli SH, Tagliaferri A, Peyvandi F, Castaman G, Duga S.
    Thromb Haemost; 2009 Sep 29; 102(3):603-6. PubMed ID: 19718484
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  • 52. Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations.
    Ivaskevicius V, Windyga J, Baran B, Schroeder V, Junen J, Bykowska K, Seifried E, Kohler HP, Oldenburg J.
    Haemophilia; 2007 Sep 29; 13(5):649-57. PubMed ID: 17880458
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  • 53. Compound heterozygosity for two novel mutations in a severe factor XI deficiency.
    Tsukahara A, Yamada T, Takagi A, Murate T, Matsushita T, Saito H, Kojima T.
    Am J Hematol; 2003 Aug 29; 73(4):279-84. PubMed ID: 12879434
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  • 55. Molecular characterization of five Italian families with inherited severe factor XIII deficiency.
    Castaman G, Giacomelli SH, Ivaskevicius V, Schroeder V, Kohler HP, Dragani A, Biasioli C, Oldenburg J, Madeo D, Rodeghiero F.
    Haemophilia; 2008 Jan 29; 14(1):96-102. PubMed ID: 18028394
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  • 56. Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families.
    Keskin EY, Gürsel T, Kaya Z, Dai L, Koçak Ü, Yenicesu İ, Belen FB, Mitchell M.
    Blood Coagul Fibrinolysis; 2015 Jan 29; 26(1):63-8. PubMed ID: 25158988
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  • 57. A novel mutation (Tyr503Cys) in a severe factor XI deficiency.
    Su K, Cai X, Xia W, Jin Y, Yang L, Wang M.
    Blood Coagul Fibrinolysis; 2018 Apr 29; 29(3):338-343. PubMed ID: 29538003
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  • 58. First diagnosis of factor XI deficiency in a patient with subarachnoid haemorrhage.
    Vasileiadis I, El-Ali M, Nanas S, Kolias S, Zacharatos P, Christopoulou-Cokkinou V, Kotanidou A.
    Blood Coagul Fibrinolysis; 2009 Jun 29; 20(4):309-13. PubMed ID: 19367158
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  • 59. Nonsense mutation in exon V of the factor XI gene does not abolish platelet factor XI expression.
    Shirk RA, Konkle BA, Walsh PN.
    Br J Haematol; 2000 Oct 29; 111(1):91-5. PubMed ID: 11091186
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  • 60. Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
    Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP.
    Hum Mutat; 2009 May 29; 30(5):734-40. PubMed ID: 19306334
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