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Items: 1 to 20 of 152

2.

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 1;97(1):139-46.

3.

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. Review.

PMID:
11458519
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 9;146(10):469-71. Dutch.

PMID:
11913111
5.

[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 Jul-Aug;213(4):155-61. Review. German.

PMID:
11528548
6.

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.

PMID:
10971406
7.

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V, Zecca M, Ferrari S, di Bari F, Corcione A, Di Stazio M, Seri M, Balduini CL.

Haematologica. 2007 Sep;92(9):1186-93. Epub 2007 Aug 1.

9.

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.

PMID:
9029014
10.

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. doi: 10.1111/j.1365-2141.2008.07139.x. Epub 2008 Apr 13.

PMID:
18422784
11.
12.

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.

PMID:
16219544
13.

Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations.

Steinberg O, Gilad G, Dgany O, Krasnov T, Zoldan M, Laor R, Kapelushnik J, Gabriel H, Churi C, Stein J, Yaniv I, Tamary H.

J Pediatr Hematol Oncol. 2007 Dec;29(12):822-5.

PMID:
18090929
14.

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. doi: 10.1002/pbc.22842.

PMID:
21162090
15.

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.

PMID:
11071383
16.

Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia.

van den Oudenrijn S, Bruin M, Folman CC, Bussel J, de Haas M, von dem Borne AE.

Br J Haematol. 2002 May;117(2):390-8.

PMID:
11972523
17.

Congenital amegakaryocytic thrombocytopenia.

Geddis AE.

Pediatr Blood Cancer. 2011 Aug;57(2):199-203. doi: 10.1002/pbc.22927. Epub 2011 Feb 18. Review.

PMID:
21337678
18.

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 15;47(1):79-83. doi: 10.1016/j.bcmd.2011.03.006. Epub 2011 Apr 13.

PMID:
21489838
19.

Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

Ballmaier M, Germeshausen M.

Br J Haematol. 2009 Jun;146(1):3-16. doi: 10.1111/j.1365-2141.2009.07706.x. Epub 2009 Apr 21. Review.

PMID:
19388932
20.

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.

PMID:
9827898

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