BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

229 related articles for article (PubMed ID: 10077649)

  • 1. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia.
    Ihara K; Ishii E; Eguchi M; Takada H; Suminoe A; Good RA; Hara T
    Proc Natl Acad Sci U S A; 1999 Mar; 96(6):3132-6. PubMed ID: 10077649
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT).
    Tonelli R; Scardovi AL; Pession A; Strippoli P; Bonsi L; Vitale L; Prete A; Locatelli F; Bagnara GP; Paolucci G
    Hum Genet; 2000 Sep; 107(3):225-33. PubMed ID: 11071383
    [TBL] [Abstract][Full Text] [Related]  

  • 3. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
    Ballmaier M; Germeshausen M; Schulze H; Cherkaoui K; Lang S; Gaudig A; Krukemeier S; Eilers M; Strauss G; Welte K
    Blood; 2001 Jan; 97(1):139-46. PubMed ID: 11133753
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [From gene to disease; from a thrombopoietin receptor gene defect to congenital amegakaryocytic thrombocytopenia].
    van den Oudenrijn S; Bruin M; de Haas M; von dem Borne AE
    Ned Tijdschr Geneeskd; 2002 Mar; 146(10):469-71. PubMed ID: 11913111
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia.
    Muraoka K; Ishii E; Tsuji K; Yamamoto S; Yamaguchi H; Hara T; Koga H; Nakahata T; Miyazaki S
    Br J Haematol; 1997 Feb; 96(2):287-92. PubMed ID: 9029014
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Implications of mutations in hematopoietic growth factor receptor genes in congenital cytopenias.
    Germeshausen M; Ballmaier M; Welte K
    Ann N Y Acad Sci; 2001 Jun; 938():305-20; discussion 320-1. PubMed ID: 11458519
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Congenital amegakaryocytic thrombocytopenia (CAMT) - a defect of the thrombopoietin receptor c-Mpl].
    Germeshausen M; Schulze H; Gaudig A; Krukemeier S; Strauss G; Welte K; Ballmaier M
    Klin Padiatr; 2001; 213(4):155-61. PubMed ID: 11528548
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation.
    Gandhi MJ; Pendergrass TW; Cummings CC; Ihara K; Blau CA; Drachman JG
    Exp Hematol; 2005 Oct; 33(10):1215-21. PubMed ID: 16219544
    [TBL] [Abstract][Full Text] [Related]  

  • 9. MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
    Germeshausen M; Ballmaier M; Welte K
    Hum Mutat; 2006 Mar; 27(3):296. PubMed ID: 16470591
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Severe Clinical Course in a Patient with Congenital Amegakaryocytic Thrombocytopenia Due to a Missense Mutation of the c-MPL Gene.
    Ok Bozkaya İ; Yaralı N; Işık P; Ünsal Saç R; Tavil B; Tunç B
    Turk J Haematol; 2015 Jun; 32(2):172-4. PubMed ID: 26316487
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
    Jalas C; Anderson SL; Laufer T; Martimucci K; Bulanov A; Xie X; Ekstein J; Rubin BY
    Blood Cells Mol Dis; 2011 Jun; 47(1):79-83. PubMed ID: 21489838
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
    Fox NE; Chen R; Hitchcock I; Keates-Baleeiro J; Frangoul H; Geddis AE
    Exp Hematol; 2009 Apr; 37(4):495-503. PubMed ID: 19302922
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia.
    van den Oudenrijn S; Bruin M; Folman CC; Peters M; Faulkner LB; de Haas M; von dem Borne AE
    Br J Haematol; 2000 Aug; 110(2):441-8. PubMed ID: 10971406
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism.
    van den Oudenrijn S; de Haas M; von dem Borne AE
    Blood; 2001 Jun; 97(11):3675-6. PubMed ID: 11392330
    [No Abstract]   [Full Text] [Related]  

  • 15. A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia.
    Chung HS; Koh KN; Kim HJ; Kim HJ; Lee KO; Park CJ; Chi HS; Kim SH; Seo JJ; Im HJ
    Pediatr Blood Cancer; 2011 Feb; 56(2):304-6. PubMed ID: 21162090
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia.
    Varghese LN; Zhang JG; Young SN; Willson TA; Alexander WS; Nicola NA; Babon JJ; Murphy JM
    Growth Factors; 2014 Feb; 32(1):18-26. PubMed ID: 24438083
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia.
    Tijssen MR; di Summa F; van den Oudenrijn S; Zwaginga JJ; van der Schoot CE; Voermans C; de Haas M
    Br J Haematol; 2008 Jun; 141(6):808-13. PubMed ID: 18422784
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital amegakaryocytic thrombocytopenia--report of a new c-mpl gene missense mutation.
    Passos-Coelho JL; Sebastião M; Gameiro P; Reichert A; Vieira L; Ferreira I; Miranda N; Guimarães A; Leal-da-Costa F; Abecasis MM
    Am J Hematol; 2007 Mar; 82(3):240-1. PubMed ID: 17034029
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).
    Strippoli P; Savoia A; Iolascon A; Tonelli R; Savino M; Giordano P; D'Avanzo M; Massolo F; Locatelli F; Borgna C; De Mattia D; Zelante L; Paolucci G; Bagnara GP
    Br J Haematol; 1998 Nov; 103(2):311-4. PubMed ID: 9827898
    [TBL] [Abstract][Full Text] [Related]  

  • 20. CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.
    Germeshausen M; Ballmaier M
    Haematologica; 2021 Sep; 106(9):2439-2448. PubMed ID: 32703794
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.