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Journal Abstract Search

230 related items for PubMed ID: 22075512

  • 1. A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura.
    Lee SH, Park JH, Park SK, Lee EH, Choi JI, Visentin GP, Park TS, Oh SH, Kim SR.
    Ann Clin Lab Sci; 2011; 41(3):273-6. PubMed ID: 22075512
    [Abstract] [Full Text] [Related]

  • 2. The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice.
    De Cock E, Hermans C, De Raeymaecker J, De Ceunynck K, De Maeyer B, Vandeputte N, Vandenbulcke A, Deckmyn H, Rottensteiner H, De Maeyer M, De Meyer SF, Vanhoorelbeke K.
    J Thromb Haemost; 2015 Feb; 13(2):283-92. PubMed ID: 25442981
    [Abstract] [Full Text] [Related]

  • 3. Two novel heterozygote missense mutations of the ADAMTS13 gene in a child with recurrent thrombotic thrombocytopenic purpura.
    Rossio R, Ferrari B, Cairo A, Mancini I, Pisapia G, Palazzo G, Peyvandi F.
    Blood Transfus; 2013 Apr; 11(2):241-4. PubMed ID: 23058857
    [Abstract] [Full Text] [Related]

  • 4. Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene.
    Krabbe JG, Kemna EW, Strunk AL, Jobse PA, Kramer PA, Dikkeschei LD, van den Heuvel LP, Fijnheer R, Verdonck LF.
    Int J Hematol; 2015 Oct; 102(4):477-81. PubMed ID: 26267233
    [Abstract] [Full Text] [Related]

  • 5. Low incidence of ADAMTS13 missense mutation R1060W in adult Egyptian patients with thrombotic thrombocytopenic purpura.
    El Sissy MH, El Hafez AA, El Sissy AH.
    Acta Haematol; 2014 Oct; 132(1):30-5. PubMed ID: 24401653
    [Abstract] [Full Text] [Related]

  • 6. Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene.
    Rank CU, Kremer Hovinga J, Taleghani MM, Lämmle B, Gøtze JP, Nielsen OJ.
    Eur J Haematol; 2014 Feb; 92(2):168-71. PubMed ID: 24033710
    [Abstract] [Full Text] [Related]

  • 7. A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.
    Meyer SC, Jeddi R, Meddeb B, Gouider E, Lämmle B, Kremer Hovinga JA.
    Ann Hematol; 2008 Aug; 87(8):663-6. PubMed ID: 18443791
    [Abstract] [Full Text] [Related]

  • 8. A novel homozygous frameshift mutation in Exon 7 of the ADAMTS13 gene in a patient with congenital thrombotic thrombocytopenic purpura from India: a case report.
    Yadav S, Shetty S, Kulkarni B.
    Transfusion; 2017 Nov; 57(11):2712-2714. PubMed ID: 28833243
    [Abstract] [Full Text] [Related]

  • 9. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
    Lotta LA, Garagiola I, Palla R, Cairo A, Peyvandi F.
    Hum Mutat; 2010 Jan; 31(1):11-9. PubMed ID: 19847791
    [Abstract] [Full Text] [Related]

  • 10. [Hereditary form of thrombotic thrombocytopenic purpura].
    Hrachovinová I, Rittich S, Salaj P, Suttnar J, Dyr JE, Suláková T, Pták J, Dulícek P, Seeman T.
    Cas Lek Cesk; 2006 Jan; 145(5):390-2. PubMed ID: 16755777
    [Abstract] [Full Text] [Related]

  • 11. Thrombotic thrombocytopenic purpura associated with von Willebrand factor-cleaving protease (ADAMTS13) deficiency in children.
    Loirat C, Veyradier A, Girma JP, Ribba AS, Meyer D.
    Semin Thromb Hemost; 2006 Mar; 32(2):90-7. PubMed ID: 16575683
    [Abstract] [Full Text] [Related]

  • 12. Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency.
    Assink K, Schiphorst R, Allford S, Karpman D, Etzioni A, Brichard B, van de Kar N, Monnens L, van den Heuvel L.
    Kidney Int; 2003 Jun; 63(6):1995-9. PubMed ID: 12753286
    [Abstract] [Full Text] [Related]

  • 13. Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura.
    Falter T, Kremer Hovinga JA, Lackner K, Füllemann HG, Lämmle B, Scharrer I.
    Hamostaseologie; 2014 Jun; 34(3):244-8. PubMed ID: 24994604
    [Abstract] [Full Text] [Related]

  • 14. ADAMTS13 and von Willebrand factor in thrombotic thrombocytopenic purpura.
    Zheng XL.
    Annu Rev Med; 2015 Jun; 66():211-25. PubMed ID: 25587650
    [Abstract] [Full Text] [Related]

  • 15. Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.
    Shibagaki Y, Matsumoto M, Kokame K, Ohba S, Miyata T, Fujimura Y, Fujita T.
    Nephrol Dial Transplant; 2006 May; 21(5):1289-92. PubMed ID: 16449289
    [Abstract] [Full Text] [Related]

  • 16. A case of severe ADAMTS13 deficiency presenting as thrombotic thrombocytopenic purpura in pregnancy.
    Nikolaou M, Karakantza M, Adonakis G, Theodorou G, Zoumbos N, Decavalas G.
    Med Pregl; 2012 May; 65(9-10):436-9. PubMed ID: 23214340
    [Abstract] [Full Text] [Related]

  • 17. Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report.
    Romão de Souza V, Beatriz Cavalcante de Oliveira A, Maria Vanderlei A, Queiroz da Mota Silveira Aroucha A, Pontes Duarte B, Nunes Machado A, Netto Chaer L, Wanderley de Barros Correia C, da Conceição de Barros Correia M, Freire Hazin Costa M.
    J Med Case Rep; 2018 Jan 22; 12(1):15. PubMed ID: 29357939
    [Abstract] [Full Text] [Related]

  • 18. [Siblings with congenital thrombotic thrombocytopenic purpura].
    Funakoshi Y, Okada M, Matsumoto M, Kokame K, Moriuchi H.
    Rinsho Ketsueki; 2017 Jan 22; 58(8):933-937. PubMed ID: 28883277
    [Abstract] [Full Text] [Related]

  • 19. Current insights into thrombotic microangiopathies: Thrombotic thrombocytopenic purpura and pregnancy.
    von Auer C, von Krogh AS, Kremer Hovinga JA, Lämmle B.
    Thromb Res; 2015 Feb 22; 135 Suppl 1():S30-3. PubMed ID: 25903530
    [Abstract] [Full Text] [Related]

  • 20. Ten patient stories illustrating the extraordinarily diverse clinical features of patients with thrombotic thrombocytopenic purpura and severe ADAMTS13 deficiency.
    George JN, Chen Q, Deford CC, Al-Nouri Z.
    J Clin Apher; 2012 Feb 22; 27(6):302-11. PubMed ID: 22927184
    [Abstract] [Full Text] [Related]

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