BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 36550574)

  • 1. Identification of a novel WAS mutation and the non-splicing effect of a second-site mutation in a Chinese pedigree with Wiskott-Aldrich syndrome.
    Ji X; Hou X; Guo X; Sun Y; Ma F; Hao J
    Orphanet J Rare Dis; 2022 Dec; 17(1):447. PubMed ID: 36550574
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].
    Liu N; Shi H; Kong X; Wu Q; Xu X; Bai Q; Feng Y; Zhao Z
    Zhonghua Er Ke Za Zhi; 2014 Sep; 52(9):662-6. PubMed ID: 25476427
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [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; 41(8):590-3. PubMed ID: 14744380
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical aspects and genetic analysis of taiwanese patients with wiskott-Aldrich syndrome protein mutation: the first identification of x-linked thrombocytopenia in the chinese with novel mutations.
    Lee WI; Huang JL; Jaing TH; Wu KH; Chien YH; Chang KW
    J Clin Immunol; 2010 Jul; 30(4):593-601. PubMed ID: 20232122
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome.
    Baharin MF; Kader Ibrahim SB; Yap SH; Abdul Manaf AM; Mat Ripen A; Dhaliwal JS
    Malays J Pathol; 2015 Aug; 37(2):153-8. PubMed ID: 26277674
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome.
    Ariga T; Yamada M; Pudua FR; Sakiyama Y
    Biochim Biophys Acta; 1996 Dec; 1317(3):158-60. PubMed ID: 8988230
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 14(1):54-66. PubMed ID: 10447259
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 92(2):271-5. PubMed ID: 20683686
    [TBL] [Abstract][Full Text] [Related]  

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

  • 10. 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; 355(17):1790-3. PubMed ID: 17065640
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome.
    Chan KW; Lee TL; Chung BH; Yang X; Lau YL
    Hum Mutat; 2002 Aug; 20(2):151-2. PubMed ID: 12124997
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.
    Jin Y; Mazza C; Christie JR; Giliani S; Fiorini M; Mella P; Gandellini F; Stewart DM; Zhu Q; Nelson DL; Notarangelo LD; Ochs HD
    Blood; 2004 Dec; 104(13):4010-9. PubMed ID: 15284122
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling.
    Kim MK; Kim ES; Kim DS; Choi IH; Moon T; Yoon CN; Shin JS
    Biochim Biophys Acta; 2004 Oct; 1690(2):134-40. PubMed ID: 15469902
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 44(5):450-4. PubMed ID: 26993433
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification and characterization of a novel splice-site mutation in a patient with Wiskott-Aldrich syndrome.
    Andreu N; Carreras C; Prieto F; Estivill X; Volpini V; Fillat C
    J Hum Genet; 2003; 48(11):590-3. PubMed ID: 14566484
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant.
    Sero L; Okur N; Yalcin AD; Unal A
    Eur J Med Genet; 2022 Aug; 65(8):104553. PubMed ID: 35777621
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome.
    Fillat C; EspaƱol T; Oset M; Ferrando M; Estivill X; Volpini V
    Am J Med Genet; 2001 Apr; 100(2):116-21. PubMed ID: 11298372
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of clinical and molecular characteristics of Wiskott-Aldrich syndrome in 24 patients from 23 unrelated Chinese families.
    Zhang ZY; Xiao HQ; Jiang LP; Zhou Y; Zhao Q; Yu J; Liu W; Yang XQ; Zhao XD
    Pediatr Allergy Immunol; 2010 May; 21(3):522-32. PubMed ID: 20546529
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.