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442 related items for PubMed ID: 16562789

  • 1. A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4.
    Doğu F, Ariga T, Ikincioğullari A, Bozdoğan G, Aytekin C, Metin A, Babacan E.
    Turk J Pediatr; 2006; 48(1):66-8. PubMed ID: 16562789
    [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. 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]

  • 4. 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]

  • 5. Detection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.
    Safaei S, Fazlollahi MR, Houshmand M, Hamidieh AA, Bemanian MH, Alavi S, Mousavi F, Pourpak Z, Moin M.
    Iran J Allergy Asthma Immunol; 2012 Dec 26; 11(4):345-8. PubMed ID: 23264413
    [Abstract] [Full Text] [Related]

  • 6. 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 26; 15(4):386-7. PubMed ID: 10737997
    [Abstract] [Full Text] [Related]

  • 7. [Identification of two novel WASP gene mutations in 3 boys with Wiskott-Aldrich syndrome].
    Jiang LP, Xu YH, Yang XQ, Liu EM, Wang LJ, Lau YL, Chan KW.
    Zhonghua Er Ke Za Zhi; 2003 Aug 26; 41(8):590-3. PubMed ID: 14744380
    [Abstract] [Full Text] [Related]

  • 8. 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 Aug 26; 39(1):102-6. PubMed ID: 17400488
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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 26; 36(3):262-4. PubMed ID: 15203732
    [Abstract] [Full Text] [Related]

  • 11. Novel WASP mutation in a patient with Wiskott-Aldrich syndrome: Case report and review of the literature.
    Eghbali M, Sadeghi-Shabestari M, Najmi Varzaneh F, Zare Bidoki A, Rezaei N.
    Allergol Immunopathol (Madr); 2016 Jun 26; 44(5):450-4. PubMed ID: 26993433
    [Abstract] [Full Text] [Related]

  • 12. 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 26; 19(2):186-7. PubMed ID: 11793485
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size.
    Patel PD, Samanich JM, Mitchell WB, Manwani D.
    Pediatr Blood Cancer; 2011 Jul 01; 56(7):1127-9. PubMed ID: 21488158
    [Abstract] [Full Text] [Related]

  • 15. 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 Jul 01; 14(1):54-66. PubMed ID: 10447259
    [Abstract] [Full Text] [Related]

  • 16. The Wiskott-Aldrich syndrome.
    Ochs HD, Thrasher AJ.
    J Allergy Clin Immunol; 2006 Apr 01; 117(4):725-38; quiz 739. PubMed ID: 16630926
    [Abstract] [Full Text] [Related]

  • 17. Wiskott-Aldrich syndrome.
    Notarangelo LD, Miao CH, Ochs HD.
    Curr Opin Hematol; 2008 Jan 01; 15(1):30-6. PubMed ID: 18043243
    [Abstract] [Full Text] [Related]

  • 18. Wiskott-Aldrich syndrome; an x-linked primary immunodeficiency disease with unique and characteristic features.
    Ariga T.
    Allergol Int; 2012 Jun 01; 61(2):183-9. PubMed ID: 22361515
    [Abstract] [Full Text] [Related]

  • 19. 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 01; 12(6):939-41. PubMed ID: 14612970
    [Abstract] [Full Text] [Related]

  • 20. Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.
    Amarinthnukrowh P, Ittiporn S, Tongkobpetch S, Chatchatee P, Sosothikul D, Shotelersuk V, Suphapeetiporn K.
    Scand J Immunol; 2013 Jan 01; 77(1):69-74. PubMed ID: 23033889
    [Abstract] [Full Text] [Related]

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