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Journal Abstract Search

199 related items for PubMed ID: 18005151

  • 21. High incidence of FXI deficiency in a Spanish town caused by 11 different mutations and the first duplication of F11: Results from the Yecla study.
    Esteban J, de la Morena-Barrio ME, Salloum-Asfar S, Padilla J, Miñano A, Roldán V, Soria JM, Vidal F, Corral J, Vicente V.
    Haemophilia; 2017 Nov; 23(6):e488-e496. PubMed ID: 28960694
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  • 23. Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations.
    Castaman G, Giacomelli SH, Dragani A, Iuliani O, Duga S, Rodeghiero F.
    Haematologica; 2008 Jun; 93(6):957-8. PubMed ID: 18515884
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  • 24. Molecular characterization of FXI deficiency.
    Berber E.
    Clin Appl Thromb Hemost; 2011 Feb; 17(1):27-32. PubMed ID: 20308231
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  • 25. A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency.
    Castaman G, Giacomelli SH, Tagliaferri A, Rodeghiero F.
    Blood Coagul Fibrinolysis; 2013 Sep; 24(6):670-2. PubMed ID: 23571684
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  • 28. Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
    Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS.
    Hum Mutat; 2004 Sep; 24(3):272. PubMed ID: 15300855
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  • 29. New observations on factor XI deficiency.
    Salomon O, Seligsohn U.
    Haemophilia; 2004 Oct; 10 Suppl 4():184-7. PubMed ID: 15479396
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  • 30. Simultaneous genotyping of coagulation factor XI type II and type III mutations by multiplex real-time polymerase chain reaction to determine their prevalence in healthy and factor XI-deficient Italians.
    Zadra G, Asselta R, Tenchini ML, Castaman G, Seligsohn U, Mannucci PM, Duga S.
    Haematologica; 2008 May; 93(5):715-21. PubMed ID: 18387979
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  • 31. Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation.
    Quélin F, Trossaërt M, Sigaud M, Mazancourt PD, Fressinaud E.
    J Thromb Haemost; 2004 Jan; 2(1):71-6. PubMed ID: 14717969
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  • 32. Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.
    Tirefort Y, Uhr MR, Neerman-Arbez M, de Moerloose P.
    Blood Coagul Fibrinolysis; 2012 Apr; 23(3):251-2. PubMed ID: 22322133
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  • 33. Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families.
    Dorgalaleh A, Gholaminezhad M, Shiravand Y, Naderi M, Safa M.
    Blood Coagul Fibrinolysis; 2019 Dec; 30(8):409-412. PubMed ID: 31644447
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  • 34. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
    Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola EZ, Gu XX, Legius E, Vincent MF, Jaeken J, Cassiman JJ, Van den Berghe G.
    Hum Mutat; 1999 Dec; 13(3):197-202. PubMed ID: 10090474
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  • 36. Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.
    Shao Y, Cao Y, Lu Y, Dai J, Ding Q, Wang X, Xi X, Wang H.
    Blood Cells Mol Dis; 2016 May; 58():29-34. PubMed ID: 27067486
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  • 38. Recombinant activated factor VII and tranexamic acid are haemostatically effective during major surgery in factor XI-deficient patients with inhibitor antibodies.
    Livnat T, Tamarin I, Mor Y, Winckler H, Horowitz Z, Korianski Y, Bar-Zakay B, Seligsohn U, Salomon O.
    Thromb Haemost; 2009 Sep; 102(3):487-92. PubMed ID: 19718468
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  • 39. The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.
    Zhang K, Qin L, Xu F, Ye L, Wen M, Pan J, Yang L, Wang M, Xie H.
    Orphanet J Rare Dis; 2024 Jun 04; 19(1):224. PubMed ID: 38835089
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  • 40. Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family.
    Peng Y, Nie L, Qin C, Wan L, Zhou P.
    Acta Haematol; 2020 Jun 04; 143(5):472-477. PubMed ID: 31982874
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