-
1
-
-
26244445825
-
The genetic basis of bone marrow failure syndromes in children
-
Federman N, Sakamoto KM. The genetic basis of bone marrow failure syndromes in children. Mol Genet Metab 2005;86:100-9.
-
(2005)
Mol Genet Metab
, vol.86
, pp. 100-109
-
-
Federman, N.1
Sakamoto, K.M.2
-
2
-
-
33644795087
-
Congenital amegakaryocytic thrombocytopenia: A retrospective clinical analysis of 20 patients
-
King S, Germeshausen M, Strauss G, Welte K, Ballmaier M. Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. Br J Haematol 2005;131:636-44.
-
(2005)
Br J Haematol
, vol.131
, pp. 636-644
-
-
King, S.1
Germeshausen, M.2
Strauss, G.3
Welte, K.4
Ballmaier, M.5
-
3
-
-
0033019932
-
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
-
Ihara K, Ishii E, Eguchi M, Takada H, Suminoe A, Good RA, et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci USA 1999;96:3132-6.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 3132-3136
-
-
Ihara, K.1
Ishii, E.2
Eguchi, M.3
Takada, H.4
Suminoe, A.5
Good, R.A.6
-
4
-
-
33745693042
-
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. MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Hum Mutat 2006;27:296-301.
-
(2006)
Hum Mutat
, vol.27
, pp. 296-301
-
-
Germeshausen, M.1
Ballmaier, M.2
Welte, K.3
-
5
-
-
36348961924
-
Congenital amegakaryocytic thrombocytopenia: Clinical and biological consequences of five novel mutations
-
Savoia A, Dufour C, Locatelli F, Noris P, Ambaglio C, Rosti V, et al. Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica 2007;92:1186-93.
-
(2007)
Haematologica
, vol.92
, pp. 1186-1193
-
-
Savoia, A.1
Dufour, C.2
Locatelli, F.3
Noris, P.4
Ambaglio, C.5
Rosti, V.6
-
6
-
-
1942509437
-
Inherited bone marrow failure syndromes
-
Nathan DG, Orkin SH, Look AT, Ginsburg D, editors, W B Saunders: Philadelphia, PA
-
Alter B. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Look AT, Ginsburg D, editors. Nathan and Oski's hematology of infancy and childhood. W B Saunders: Philadelphia, PA, 2003, p. 314-5.
-
(2003)
Nathan and Oski's hematology of infancy and childhood
, pp. 314-315
-
-
Alter, B.1
-
7
-
-
37349098053
-
Congenital amegakaryocytic thrombocytopenia - 3 novel c-MPL mutations and their phenotypic correlations
-
Steinberg O, Gilad G, Dgany O, Krasnov T, Zoldan M, Loar R, et al. Congenital amegakaryocytic thrombocytopenia - 3 novel c-MPL mutations and their phenotypic correlations. J Pediatr Hematol Oncol 2007;29:822-5.
-
(2007)
J Pediatr Hematol Oncol
, vol.29
, pp. 822-825
-
-
Steinberg, O.1
Gilad, G.2
Dgany, O.3
Krasnov, T.4
Zoldan, M.5
Loar, R.6
-
8
-
-
22244458939
-
Reduced intensity hematopoietic stem-cell transplantation across human leukocytes antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7
-
Steele MacG, Hitzler J, Doyle JJ, Germeshausen M, Fernandez CV, Yuille K, et al. Reduced intensity hematopoietic stem-cell transplantation across human leukocytes antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7. Pediatr Blood Cancer 2005;45:212-6.
-
(2005)
Pediatr Blood Cancer
, vol.45
, pp. 212-216
-
-
MacG, S.1
Hitzler, J.2
Doyle, J.J.3
Germeshausen, M.4
Fernandez, C.V.5
Yuille, K.6
-
9
-
-
0036131872
-
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases
-
Maserati E, Aprili F, Vinante F, Locatelli F, Amendola G, Zatterale A, et al. Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. Genes Chromosom Cancer 2002;33:93-7.
-
(2002)
Genes Chromosom Cancer
, vol.33
, pp. 93-97
-
-
Maserati, E.1
Aprili, F.2
Vinante, F.3
Locatelli, F.4
Amendola, G.5
Zatterale, A.6
-
10
-
-
2542554191
-
Familial platelet disorder with propensity to acute myelogenous leukemia: Genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies
-
Minelli A, Maserati E, Rossi G, Bernardo ME, De Stefano P, Cecchini MP, et al. Familial platelet disorder with propensity to acute myelogenous leukemia: genetic heterogeneity and progression to leukemia via acquisition of clonal chromosome anomalies. Genes Chromosom Cancer 2004;40:165-71.
-
(2004)
Genes Chromosom Cancer
, vol.40
, pp. 165-171
-
-
Minelli, A.1
Maserati, E.2
Rossi, G.3
Bernardo, M.E.4
De Stefano, P.5
Cecchini, M.P.6
-
11
-
-
27644511287
-
-
Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005;45:892-901.
-
Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005;45:892-901.
-
-
-
|