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Journal Abstract Search

228 related items for PubMed ID: 14612970

  • 1. A novel termination codon mutation of the WAS gene in a Thai family with Wiskott-Aldrich syndrome.
    Chatchatee P, Srichomthong C, Chewatavorn A, Shotelersuk V.
    Int J Mol Med; 2003 Dec; 12(6):939-41. PubMed ID: 14612970
    [Abstract] [Full Text] [Related]

  • 2. Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
    Andreu N, Matamoros N, Escudero A, Fillat C.
    Int J Mol Med; 2007 May; 19(5):777-82. PubMed ID: 17390083
    [Abstract] [Full Text] [Related]

  • 3. Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
    Bourne HC, Weston S, Prasad M, Edkins E, Benson EM.
    Pathology; 2004 Jun; 36(3):262-4. PubMed ID: 15203732
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  • 4. Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.
    Lemahieu V, Gastier JM, Francke U.
    Hum Mutat; 1999 Jun; 14(1):54-66. PubMed ID: 10447259
    [Abstract] [Full Text] [Related]

  • 5. Mutations of the WASP gene in 10 Japanese patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
    Itoh S, Nonoyama S, Morio T, Imai K, Okawa H, Ochs HD, Shimadzu M, Yata J.
    Int J Hematol; 2000 Jan; 71(1):79-83. PubMed ID: 10729999
    [Abstract] [Full Text] [Related]

  • 6. Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.
    Stewart DM, Tian L, Nelson DL.
    J Immunol; 1999 Apr 15; 162(8):5019-24. PubMed ID: 10202051
    [Abstract] [Full Text] [Related]

  • 7. Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.
    Brooimans RA, van den Berg AJ, Tamminga RY, Revesz T, Wulffraat NM, Zegers BJ.
    Hum Mutat; 2000 Apr 15; 15(4):386-7. PubMed ID: 10737997
    [Abstract] [Full Text] [Related]

  • 8. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.
    Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, Verhoef GE, Boogaerts MA, Fryns JP, You D, Rosen MK, Vandenberghe P.
    Nat Genet; 2001 Mar 15; 27(3):313-7. PubMed ID: 11242115
    [Abstract] [Full Text] [Related]

  • 9. Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
    El-Hakeh J, Rosenzweig S, Oleastro M, Basack N, Berozdnik L, Molina F, Rivas EM, Zelazko M, Danielian S.
    Hum Mutat; 2002 Feb 15; 19(2):186-7. PubMed ID: 11793485
    [Abstract] [Full Text] [Related]

  • 10. Recurrent V75M mutation within the Wiskott-Aldrich syndrome protein: description of a homozygous female patient.
    Proust A, Guillet B, Pellier I, Rachieru P, Hoarau C, Claeyssens S, Léonard C, Charrier S, Vainchenker W, Tchernia G, Delaunay J.
    Eur J Haematol; 2005 Jul 15; 75(1):54-9. PubMed ID: 15946311
    [Abstract] [Full Text] [Related]

  • 11. The genotype of the original Wiskott phenotype.
    Binder V, Albert MH, Kabus M, Bertone M, Meindl A, Belohradsky BH.
    N Engl J Med; 2006 Oct 26; 355(17):1790-3. PubMed ID: 17065640
    [Abstract] [Full Text] [Related]

  • 12. Molecular biology of the Wiskott-Aldrich syndrome.
    Rengan R, Ochs HD.
    Rev Immunogenet; 2000 Oct 26; 2(2):243-55. PubMed ID: 11258421
    [Abstract] [Full Text] [Related]

  • 13. Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
    Proust A, Guillet B, Picard C, de Saint Basile G, Pondarré C, Tamary H, Dreyfus M, Tchernia G, Fischer A, Delaunay J.
    Blood Cells Mol Dis; 2007 Oct 26; 39(1):102-6. PubMed ID: 17400488
    [Abstract] [Full Text] [Related]

  • 14. The Wiskott-Aldrich syndrome.
    Ochs HD.
    Semin Hematol; 1998 Oct 26; 35(4):332-45. PubMed ID: 9801262
    [Abstract] [Full Text] [Related]

  • 15. Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.
    Gulácsy V, Freiberger T, Shcherbina A, Pac M, Chernyshova L, Avcin T, Kondratenko I, Kostyuchenko L, Prokofjeva T, Pasic S, Bernatowska E, Kutukculer N, Rascon J, Iagaru N, Mazza C, Tóth B, Erdos M, van der Burg M, Maródi L, J Project Study Group.
    Mol Immunol; 2011 Feb 26; 48(5):788-92. PubMed ID: 21185603
    [Abstract] [Full Text] [Related]

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  • 17. Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.
    Boztug K, Germeshausen M, Avedillo Díez I, Gulacsy V, Diestelhorst J, Ballmaier M, Welte K, Maródi L, Chernyshova L, Klein C.
    Clin Genet; 2008 Jul 26; 74(1):68-74. PubMed ID: 18479478
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  • 19. A novel WASP gene mutation in a Chinese boy with Wiskott-Aldrich syndrome.
    Yu H, Liu T, Meng W, Hou L.
    Int J Hematol; 2010 Sep 26; 92(2):271-5. PubMed ID: 20683686
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