BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

196 related articles for article (PubMed ID: 17250667)

  • 1. A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.
    Dobbs AK; Yang T; Farmer DM; Howard V; Conley ME
    Clin Genet; 2007 Feb; 71(2):171-6. PubMed ID: 17250667
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Double-strand DNA break repair with replication slippage on two strands: a novel mechanism of deletion formation.
    MacLean HE; Favaloro JM; Warne GL; Zajac JD
    Hum Mutat; 2006 May; 27(5):483-9. PubMed ID: 16619235
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutation spectrum in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia: identification of twelve different mutations in the WASP gene.
    Schwartz M; Békássy A; Donnér M; Hertel T; Hreidarson S; Kerndrup G; Stormorken H; Stokland T; Tranebjaerg L; Orstavik KH; Skovby F
    Thromb Haemost; 1996 Apr; 75(4):546-50. PubMed ID: 8743175
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.
    Du W; Kumaki S; Uchiyama T; Yachie A; Yeng Looi C; Kawai S; Minegishi M; Ramesh N; Geha RS; Sasahara Y; Tsuchiya S
    Hum Mutat; 2006 Apr; 27(4):370-5. PubMed ID: 16511828
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 8. IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family.
    Yoon SH; Cho T; Kim HJ; Kim SY; Ko JH; Baek HS; Lee HJ; Lee CH
    Pediatr Blood Cancer; 2012 Feb; 58(2):297-9. PubMed ID: 22038941
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.
    Wada T; Konno A; Schurman SH; Garabedian EK; Anderson SM; Kirby M; Nelson DL; Candotti F
    J Clin Invest; 2003 May; 111(9):1389-97. PubMed ID: 12727931
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata.
    Shirahama S; Miyahara A; Kitoh H; Honda A; Kawase A; Yamada K; Mabuchi A; Kura H; Yokoyama Y; Tsutsumi M; Ikeda T; Tanaka N; Nishimura G; Ohashi H; Ikegawa S
    Hum Genet; 2003 Jan; 112(1):78-83. PubMed ID: 12483303
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
    Puck JM; Pepper AE; Bédard PM; Laframboise R
    J Clin Invest; 1995 Feb; 95(2):895-9. PubMed ID: 7860773
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.
    Wimplinger I; Rauch A; Orth U; Schwarzer U; Trautmann U; Kutsche K
    Eur J Med Genet; 2007; 50(6):421-31. PubMed ID: 17845869
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 74(1):68-74. PubMed ID: 18479478
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Wiskott-Aldrich syndrome in a girl caused by heterozygous WASP mutation and extremely skewed X-chromosome inactivation: a novel association with maternal uniparental isodisomy 6.
    Takimoto T; Takada H; Ishimura M; Kirino M; Hata K; Ohara O; Morio T; Hara T
    Neonatology; 2015; 107(3):185-90. PubMed ID: 25633059
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
    Martínez-Garay I; Tomás M; Oltra S; Ramser J; Moltó MD; Prieto F; Meindl A; Kutsche K; Martínez F
    Eur J Hum Genet; 2007 Jan; 15(1):29-34. PubMed ID: 17033686
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.
    Lose F; Duffy DL; Kay GF; Kedda MA; Spurdle AB; ;
    J Natl Cancer Inst; 2008 Nov; 100(21):1519-29. PubMed ID: 18957670
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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(4):386-7. PubMed ID: 10737997
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 27(3):313-7. PubMed ID: 11242115
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.