122 related articles for article (PubMed ID: 17054430)
1. Novel mutations in a child with congenital amegakaryocytic thrombocytopenia.
Pemberton LC; Levett D; Skinner R; Hall AG; Hanley JP
Br J Haematol; 2006 Dec; 135(5):742-3. PubMed ID: 17054430
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. [Congenital amegakaryocytic thrombocytopenia in a 12 year old boy with no signs of pancytopenia: molecular analysis].
Bastida Eizaguirre M; Pereda Vicandi A; Pujana Zaldegui I
An Pediatr (Barc); 2008 Apr; 68(4):353-6. PubMed ID: 18394379
[TBL] [Abstract][Full Text] [Related]
6. Congenital amegakaryocytic thrombocytopenia.
Geddis AE
Pediatr Blood Cancer; 2011 Aug; 57(2):199-203. PubMed ID: 21337678
[TBL] [Abstract][Full Text] [Related]
7. Advances in the understanding of congenital amegakaryocytic thrombocytopenia.
Ballmaier M; Germeshausen M
Br J Haematol; 2009 Jun; 146(1):3-16. PubMed ID: 19388932
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.
Stoddart MT; Connor P; Germeshausen M; Ballmaier M; Steward CG
Pediatr Blood Cancer; 2013 Sep; 60(9):E94-6. PubMed ID: 23625800
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
Pecci A; Ragab I; Bozzi V; De Rocco D; Barozzi S; Giangregorio T; Ali H; Melazzini F; Sallam M; Alfano C; Pastore A; Balduini CL; Savoia A
EMBO Mol Med; 2018 Jan; 10(1):63-75. PubMed ID: 29191945
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation.
Thompson AA; Nguyen LT
Nat Genet; 2000 Dec; 26(4):397-8. PubMed ID: 11101832
[No Abstract] [Full Text] [Related]
14. Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor.
Muraoka K; Ishii E; Ihara K; Imayoshi M; Miyazaki S; Hara T; Hamasaki Y
Pediatr Transplant; 2005 Feb; 9(1):101-3. PubMed ID: 15667621
[TBL] [Abstract][Full Text] [Related]
15. Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate.
Saqlain N; Ahmed N; Qamar U
J Coll Physicians Surg Pak; 2014 Nov; 24 Suppl 3():S253-5. PubMed ID: 25518793
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. CAMT in a female with developmental delay, facial malformations and central nervous system anomalies.
Martinón-Torres N; Vázquez-Donsión M; Loidi L; Couselo JM
Pediatr Blood Cancer; 2011 Mar; 56(3):452-3. PubMed ID: 21225925
[TBL] [Abstract][Full Text] [Related]
18. Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment.
Ballmaier M; Germeshausen M
Semin Thromb Hemost; 2011 Sep; 37(6):673-81. PubMed ID: 22102270
[TBL] [Abstract][Full Text] [Related]
19. Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
Geddis AE
Semin Hematol; 2006 Jul; 43(3):196-203. PubMed ID: 16822462
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
