-
1
-
-
84857116229
-
-
Online Mendelian Inheritance in Man (Feb 25, 2011)
-
Online Mendelian Inheritance in Man. Amegakaryocytic thrombocytopenia, congenital; CAMT. http://www.ncbi.nlm.nih.gov/omim/604498 (Feb 25, 2011)
-
Amegakaryocytic Thrombocytopenia, Congenital; CAMT
-
-
-
2
-
-
0033019932
-
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
-
DOI 10.1073/pnas.96.6.3132
-
Ihara K, Ishii E, Eguchi M et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci U S A 1999 96 6 3132-3136 (Pubitemid 29148856)
-
(1999)
Proceedings of the National Academy of Sciences of the United States of America
, vol.96
, Issue.6
, pp. 3132-3136
-
-
Ihara, K.1
Ishii, E.2
Eguchi, M.3
Takada, H.4
Suminoe, A.5
Good, R.A.6
Hara, T.7
-
3
-
-
0035174334
-
C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia
-
DOI 10.1182/blood.V97.1.139
-
Ballmaier M, Germeshausen M, Schulze H et al. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood 2001 97 1 139-146 (Pubitemid 32061253)
-
(2001)
Blood
, vol.97
, Issue.1
, pp. 139-146
-
-
Ballmaier, M.1
Germeshausen, M.2
Schulze, H.3
Cherkaoui, K.4
Lang, S.5
Gaudig, A.6
Krukemeier, S.7
Eilers, M.8
Strauss, G.9
Welte, K.10
-
4
-
-
0029035985
-
Thrombopoietin: The primary regulator of platelet production
-
Kaushansky K. Thrombopoietin: the primary regulator of platelet production. Blood 1995 86 2 419-431
-
(1995)
Blood
, vol.86
, Issue.2
, pp. 419-431
-
-
Kaushansky, K.1
-
5
-
-
66949177954
-
Advances in the understanding of congenital amegakaryocytic thrombocytopenia
-
Ballmaier M, Germeshausen M. Advances in the understanding of congenital amegakaryocytic thrombocytopenia. Br J Haematol 2009 146 1 3-16
-
(2009)
Br J Haematol
, vol.146
, Issue.1
, pp. 3-16
-
-
Ballmaier, M.1
Germeshausen, M.2
-
6
-
-
0024041895
-
A test for Fanconi's anemia
-
Auerbach A D. A test for Fanconi's anemia. Blood 1988 72 1 366-367
-
(1988)
Blood
, vol.72
, Issue.1
, pp. 366-367
-
-
Auerbach, A.D.1
-
7
-
-
0342891683
-
Congenital marrow failure syndromes and malignant hematopoietic Transformation
-
Freedman M H. Congenital Marrow Failure Syndromes and Malignant Hematopoietic Transformation. Oncologist 1996 1 6 354-360 (Pubitemid 126669243)
-
(1996)
Oncologist
, vol.1
, Issue.6
, pp. 354-360
-
-
Freedman, M.H.1
-
8
-
-
0027470022
-
Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia
-
Guinan E C., Lee Y S., Lopez K D. et al. Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia. Blood 1993 81 7 1691-1698 (Pubitemid 23101580)
-
(1993)
Blood
, vol.81
, Issue.7
, pp. 1691-1698
-
-
Guinan, E.C.1
Yi Sheng Lee2
Lopez, K.D.3
Kohler, S.4
Oette, D.H.5
Bruno, E.6
Kozakewich, H.7
Nathan, D.G.8
Hoffman, R.9
-
9
-
-
0031039930
-
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 et al. Defective response to thrombopoietin and impaired expression of c-mpl mRNA of bone marrow cells in congenital amegakaryocytic thrombocytopenia. Br J Haematol 1997 96 2 287-292 (Pubitemid 27077361)
-
(1997)
British Journal of Haematology
, vol.96
, Issue.2
, pp. 287-292
-
-
Muraoka, K.1
Ishii, E.2
Tsuji, K.3
Yamamoto, S.4
Yamaguchi, H.5
Hara, T.6
Koga, H.7
Nakahata, T.8
Miyazaki, S.9
-
10
-
-
0029060878
-
Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia
-
Henter J I., Winiarski J, Ljungman P, Ringdén O, Ost A. Bone marrow transplantation in two children with congenital amegakaryocytic thrombocytopenia. Bone Marrow Transplant 1995 15 5 799-801
-
(1995)
Bone Marrow Transplant
, vol.15
, Issue.5
, pp. 799-801
-
-
Henter, J.I.1
Winiarski, J.2
Ljungman, P.3
Ringdén, O.4
Ost, A.5
-
11
-
-
13744262063
-
Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor
-
DOI 10.1111/j.1399-3046.2005.00247.x
-
Muraoka K, Ishii E, Ihara K et al. Successful bone marrow transplantation in a patient with c-mpl-mutated congenital amegakaryocytic thrombocytopenia from a carrier donor. Pediatr Transplant 2005 9 1 101-103 (Pubitemid 40238973)
-
(2005)
Pediatric Transplantation
, vol.9
, Issue.1
, pp. 101-103
-
-
Muraoka, K.1
Ishii, E.2
Ihara, K.3
Imayoshi, M.4
Miyazaki, S.5
Hara, T.6
Hamasaki, Y.7
-
12
-
-
0031899015
-
Engraftment of unrelated donor stem cells in children with familial amegakaryocytic thrombocytopenia
-
MacMillan M L., Davies S M., Wagner J E., Ramsay N K. Engraftment of unrelated donor stem cells in children with familial amegakaryocytic thrombocytopenia. Bone Marrow Transplant 1998 21 7 735-737 (Pubitemid 28159614)
-
(1998)
Bone Marrow Transplantation
, vol.21
, Issue.7
, pp. 735-737
-
-
MacMillan, M.L.1
Davies, S.M.2
Wagner, J.E.3
Ramsay, N.K.C.4
-
13
-
-
0033519661
-
Transplantation of anergic histoincompatible bone marrow allografts
-
DOI 10.1056/NEJM199906033402202
-
Guinan E C., Boussiotis V A., Neuberg D et al. Transplantation of anergic histoincompatible bone marrow allografts. N Engl J Med 1999 340 22 1704-1714 (Pubitemid 29252598)
-
(1999)
New England Journal of Medicine
, vol.340
, Issue.22
, pp. 1704-1714
-
-
Guinan, E.C.1
Boussiotis, V.A.2
Neuberg, D.3
Brennan, L.L.4
Hirano, N.5
Nadler, L.M.6
Gribben, J.G.7
-
14
-
-
0033867088
-
Haematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia
-
DOI 10.1046/j.1365-2141.2000.02099.x
-
Lackner A, Basu O, Bierings M et al. Haematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia. Br J Haematol 2000 109 4 773-775 (Pubitemid 30609755)
-
(2000)
British Journal of Haematology
, vol.109
, Issue.4
, pp. 773-775
-
-
Lackner, A.1
Basu, O.2
Bierings, M.3
Lassay, L.4
Schaefer, U.W.5
Revesz, T.6
Havers, W.7
Kremens, B.8
-
15
-
-
0033845012
-
Mutations in the thrombopoietin receptor, mpl, in children with congenital amegakaryocytic thrombocytopenia
-
DOI 10.1046/j.1365-2141.2000.02175.x
-
van den Oudenrijn S, Bruin M, Folman C C. et al. Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. Br J Haematol 2000 110 2 441-448 (Pubitemid 30646875)
-
(2000)
British Journal of Haematology
, vol.110
, Issue.2
, pp. 441-448
-
-
Van Den Oudenrijn, S.1
Bruin, M.2
Folman, C.C.3
Peters, M.4
Faulkner, L.B.5
De Haas, M.6
Von Dem Borne, A.E.G.Kr.7
-
16
-
-
0035383805
-
Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism
-
van den Oudenrijn S, de Haas M, von dem Borne A E. Screening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism. Blood 2001 97 11 3675-3676
-
(2001)
Blood
, vol.97
, Issue.11
, pp. 3675-3676
-
-
Van Den Oudenrijn, S.1
De Haas, M.2
Von Dem Borne, A.E.3
-
17
-
-
0036234160
-
Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia
-
DOI 10.1046/j.1365-2141.2002.03455.x
-
van den Oudenrijn S, Bruin M, Folman C C., Bussel J, de Haas M, von dem Borne A E. Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia. Br J Haematol 2002 117 2 390-398 (Pubitemid 34460503)
-
(2002)
British Journal of Haematology
, vol.117
, Issue.2
, pp. 390-398
-
-
Van Den Oudenrijn, S.1
Bruin, M.2
Folman, C.C.3
Bussel, J.4
De Haas, M.5
Von Dem Borne, A.E.G.Kr.6
-
18
-
-
33644795087
-
Congenital amegakaryocytic thrombocytopenia: A retrospective clinical analysis of 20 patients
-
DOI 10.1111/j.1365-2141.2005.05819.x
-
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 5 636-644 (Pubitemid 43899631)
-
(2005)
British Journal of Haematology
, vol.131
, Issue.5
, pp. 636-644
-
-
King, S.1
Germeshausen, M.2
Strauss, G.3
Welte, K.4
Ballmaier, M.5
-
19
-
-
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 3 296
-
(2006)
Hum Mutat
, vol.27
, Issue.3
, pp. 296
-
-
Germeshausen, M.1
Ballmaier, M.2
Welte, K.3
-
20
-
-
0033824419
-
Peripheral stem cell transplantation in a child with amegakaryocytic thrombocytopenia
-
Yeilipek H V., Hazar V, Küpesiz A, Yegin O. Peripheral stem cell transplantation in a child with amegakaryocytic thrombocytopenia. Bone Marrow Transplant 2000 26 5 571-572
-
(2000)
Bone Marrow Transplant
, vol.26
, Issue.5
, pp. 571-572
-
-
Yeilipek, H.V.1
Hazar, V.2
Küpesiz, A.3
Yegin, O.4
-
21
-
-
0036153786
-
Successful engraftment of unrelated donor stem cells in two children with congenital amegakaryocytic thrombocytopenia [2]
-
DOI 10.1097/00043426-200201000-00022
-
Kudo K, Kato K, Matsuyama T, Kojima S. Successful engraftment of unrelated donor stem cells in two children with congenital amegakaryocytic thrombocytopenia. J Pediatr Hematol Oncol 2002 24 1 79-80 (Pubitemid 34094339)
-
(2002)
Journal of Pediatric Hematology/Oncology
, vol.24
, Issue.1
, pp. 79-80
-
-
Kudo, K.1
Kato, K.2
Matsuyama, T.3
Kojima, S.4
-
22
-
-
1942538288
-
Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT)
-
DOI 10.1038/sj.bmt.1704445
-
Al-Ahmari A, Ayas M, Al-Jefri A, Al-Mahr M, Rifai S, El-Solh H. Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT). Bone Marrow Transplant 2004 33 8 829-831 (Pubitemid 38519244)
-
(2004)
Bone Marrow Transplantation
, vol.33
, Issue.8
, pp. 829-831
-
-
Al-Ahmari, A.1
Ayas, M.2
Al-Jefri, A.3
Al-Mahr, M.4
Rifai, S.5
El Solh, H.6
-
23
-
-
22244458939
-
Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7
-
DOI 10.1002/pbc.20332
-
Steele M, Hitzler J, Doyle J J. et al. Reduced intensity hematopoietic stem-cell transplantation across human leukocyte antigen barriers in a patient with congenital amegakaryocytic thrombocytopenia and monosomy 7. Pediatr Blood Cancer 2005 45 2 212-216 (Pubitemid 40993590)
-
(2005)
Pediatric Blood and Cancer
, vol.45
, Issue.2
, pp. 212-216
-
-
Steele, M.1
Hitzler, J.2
Doyle, J.J.3
Germeshausen, M.4
Fernandez, C.V.5
Yuille, K.6
Dror, Y.7
-
24
-
-
26244431673
-
Congenital amegakaryocytic thrombocytopenia in three siblings: Molecular analysis of atypical clinical presentation
-
DOI 10.1016/j.exphem.2005.06.017, PII S0301472X05002973
-
Gandhi M J., Pendergrass T W., Cummings C C., Ihara K, Blau C A., Drachman J G. Congenital amegakaryocytic thrombocytopenia in three siblings: molecular analysis of atypical clinical presentation. Exp Hematol 2005 33 10 1215-1221 (Pubitemid 41416970)
-
(2005)
Experimental Hematology
, vol.33
, Issue.10
, pp. 1215-1221
-
-
Gandhi, M.J.1
Pendergrass, T.W.2
Cummings, C.C.3
Ihara, K.4
Blau, C.A.5
Drachman, J.G.6
-
25
-
-
33847629291
-
Congenital amegakaryocytic thrombocytopenia - Report of a new c-mpl gene missense mutation
-
DOI 10.1002/ajh.20756
-
Passos-Coelho J L., Sebastião M, Gameiro P et al. Congenital amegakaryocytic thrombocytopeniareport of a new c-mpl gene missense mutation. Am J Hematol 2007 82 3 240-241 (Pubitemid 46363795)
-
(2007)
American Journal of Hematology
, vol.82
, Issue.3
, pp. 240-241
-
-
Passos-Coelho, J.L.1
Sebastiao, M.2
Gameiro, P.3
Reichert, A.4
Vieira, L.5
Ferreira, I.6
Miranda, N.7
Guimaraes, A.8
Leal-Da-Costa, F.9
Abecasis, M.M.10
-
26
-
-
33750560435
-
Novel mutations in a child with congenital amegakaryocytic thrombocytopenia [1]
-
DOI 10.1111/j.1365-2141.2006.06358.x
-
Pemberton L C., Levett D, Skinner R, Hall A G., Hanley J P. Novel mutations in a child with congenital amegakaryocytic thrombocytopenia. Br J Haematol 2006 135 5 742-743 (Pubitemid 44674089)
-
(2006)
British Journal of Haematology
, vol.135
, Issue.5
, pp. 742-743
-
-
Pemberton, L.C.1
Levett, D.2
Skinner, R.3
Hall, A.G.4
Hanley, J.P.5
-
27
-
-
36348961924
-
Congenital amegakaryocytic thrombocytopenia: Clinical and biological consequences of five novel mutations
-
DOI 10.3324/haematol.11425
-
Savoia A, Dufour C, Locatelli F et al. Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica 2007 92 9 1186-1193 (Pubitemid 350144176)
-
(2007)
Haematologica
, vol.92
, Issue.9
, pp. 1186-1193
-
-
Savoia, A.1
Dufour, C.2
Locatelli, F.3
Noris, P.4
Ambaglio, C.5
Rosti, V.6
Zecca, M.7
Ferrari, S.8
Di Bari, F.9
Corcione, A.10
Di Stazio, M.11
Seri, M.12
Balduini, C.L.13
-
28
-
-
0033781085
-
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)
-
Tonelli R, Scardovi A L., Pession A et al. Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). Hum Genet 2000 107 3 225-233
-
(2000)
Hum Genet
, vol.107
, Issue.3
, pp. 225-233
-
-
Tonelli, R.1
Scardovi, A.L.2
Pession, A.3
-
29
-
-
48749093670
-
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498)
-
Maserati E, Panarello C, Morerio C et al. Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498). Haematologica 2008 93 8 1271-1273
-
(2008)
Haematologica
, vol.93
, Issue.8
, pp. 1271-1273
-
-
Maserati, E.1
Panarello, C.2
Morerio, C.3
-
30
-
-
34548211814
-
Congenital amegakaryocytic thrombocytopenia (CAMT): A case report with review of literature
-
Desai S R., Ranade S R. Congenital amegakaryocytic thrombocytopenia (CAMT): a case report with review of literature. Indian J Pathol Microbiol 2007 50 3 659-660 (Pubitemid 47329028)
-
(2007)
Indian Journal of Pathology and Microbiology
, vol.50
, Issue.3
, pp. 659-660
-
-
Desai, S.R.1
Ranade, S.R.2
-
31
-
-
37349098053
-
Congenital amegakaryocytic thrombocytopenia - 3 Novel c-MPL mutations and their phenotypic correlations
-
DOI 10.1097/MPH.0b013e318158152e, PII 0004342620071200000005
-
Steinberg O, Gilad G, Dgany O et al. Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations. J Pediatr Hematol Oncol 2007 29 12 822-825 (Pubitemid 350307703)
-
(2007)
Journal of Pediatric Hematology/Oncology
, vol.29
, Issue.12
, pp. 822-825
-
-
Steinberg, O.1
Gilad, G.2
Dgany, O.3
Krasnov, T.4
Zoldan, M.5
Laor, R.6
Kapelushnik, J.7
Gabriel, H.8
Churi, C.9
Stein, J.10
Yaniv, I.11
Tamary, H.12
-
32
-
-
77954348335
-
Frequency and natural history of inherited bone marrow failure syndromes: The Israeli Inherited Bone Marrow Failure Registry
-
Tamary H, Nishri D, Yacobovich J et al. Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry. Haematologica 2010 95 8 1300-1307
-
(2010)
Haematologica
, vol.95
, Issue.8
, pp. 1300-1307
-
-
Tamary, H.1
Nishri, D.2
Yacobovich, J.3
-
33
-
-
42149121404
-
Trombocitopenia congénita amegacariocítica en un niño de 12 años sin pancitopenia acompañante: Análisis molecular
-
DOI 10.1157/13117713
-
Bastida Eizaguirre M, Pereda Vicandi A, Pujana Zaldegui I. [Congenital amegakaryocytic thrombocytopenia in a 12 year old boy with no signs of pancytopenia: molecular analysis]. An Pediatr (Barc) 2008 68 4 353-356 (Pubitemid 351534846)
-
(2008)
Anales de Pediatria
, vol.68
, Issue.4
, pp. 353-356
-
-
Bastida Eizaguirre, M.1
Pereda Vicandi, A.2
Pujana Zaldegui, I.3
-
34
-
-
40449118297
-
Characterization of a patient with atypical amegakaryocytic thrombocytopenia
-
DOI 10.1111/j.1600-0609.2008.01029.x
-
Kanaji S, Kanaji T, Migita M et al. Characterization of a patient with atypical amegakaryocytic thrombocytopenia. Eur J Haematol 2008 80 4 361-364 (Pubitemid 351347584)
-
(2008)
European Journal of Haematology
, vol.80
, Issue.4
, pp. 361-364
-
-
Kanaji, S.1
Kanaji, T.2
Migita, M.3
Kunishima, S.4
Kunicki, T.J.5
Okamura, T.6
Izuhara, K.7
-
35
-
-
62149085569
-
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature
-
Fox N E., Chen R, Hitchcock I, Keates-Baleeiro J, Frangoul H, Geddis A E. Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. Exp Hematol 2009 37 4 495-503
-
(2009)
Exp Hematol
, vol.37
, Issue.4
, pp. 495-503
-
-
Fox, N.E.1
Chen, R.2
Hitchcock, I.3
Keates-Baleeiro, J.4
Frangoul, H.5
Geddis, A.E.6
-
36
-
-
42349089197
-
Congenital amegakaryocytic thrombocytopenia: The diagnostic importance of combining pathology with molecular genetics
-
DOI 10.1002/pbc.21453
-
Rose M J., Nicol K K., Skeens M A., Gross T G., Kerlin B A. Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. Pediatr Blood Cancer 2008 50 6 1263-1265 (Pubitemid 351555555)
-
(2008)
Pediatric Blood and Cancer
, vol.50
, Issue.6
, pp. 1263-1265
-
-
Rose, M.J.1
Nicol, K.K.2
Skeens, M.A.3
Gross, T.G.4
Kerlin, B.A.5
-
37
-
-
77952276420
-
Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: Report of two cases and review of the literature
-
Frangoul H, Keates-Baleeiro J, Calder C et al. Unrelated bone marrow transplant for congenital amegakaryocytic thrombocytopenia: report of two cases and review of the literature. Pediatr Transplant 2010 14 4 E42-E45
-
(2010)
Pediatr Transplant
, vol.14
, Issue.4
-
-
Frangoul, H.1
Keates-Baleeiro, J.2
Calder, C.3
-
38
-
-
78650134934
-
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia
-
Chung H S., Koh K N., Kim H J. et al. A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. Pediatr Blood Cancer 2011 56 2 304-306
-
(2011)
Pediatr Blood Cancer
, vol.56
, Issue.2
, pp. 304-306
-
-
Chung, H.S.1
Koh, K.N.2
Kim, H.J.3
-
39
-
-
81755178905
-
Congenital amegakaryocytic thrombocytopenia (CAMT): A difficult early diagnosis
-
Conde N, Quintero A E., Rives S et al. Congenital amegakaryocytic thrombocytopenia (CAMT): a difficult early diagnosis. Haematologica 2010 95 Suppl 2 412-413
-
(2010)
Haematologica
, vol.95
, Issue.SUPPL. 2
, pp. 412-413
-
-
Conde, N.1
Quintero, A.E.2
Rives, S.3
-
40
-
-
78651068543
-
CAMT in a female with developmental delay, facial malformations and central nervous system anomalies
-
Martinón-Torres N, Vázquez-Donsión M, Loidi L, Couselo J M. CAMT in a female with developmental delay, facial malformations and central nervous system anomalies. Pediatr Blood Cancer 2011 56 3 452-453
-
(2011)
Pediatr Blood Cancer
, vol.56
, Issue.3
, pp. 452-453
-
-
Martinón-Torres, N.1
Vázquez-Donsión, M.2
Loidi, L.3
Couselo, J.M.4
-
41
-
-
81755172543
-
Identification of mutations in the C-MPL gene confirms diagnosis of congenital amegakaryocytic thrombocytopenia (CAMT)
-
[abstract] 5
-
Poles A, Keen L, Steward C et al. Identification of mutations in the C-MPL gene confirms diagnosis of congenital amegakaryocytic thrombocytopenia (CAMT). [abstract] Int J Immunogenet 2010 37 5 423
-
(2010)
Int J Immunogenet
, vol.37
, pp. 423
-
-
Poles, A.1
Keen, L.2
Steward, C.3
-
42
-
-
1942509437
-
-
In: Nathan D. G. Stranahan R. A. Orkin S. H. Look A. T. Ginsburg D. eds. Nathan and Oski's Hematology of Infancy and Childhood. 6th ed Philadelphia Saunders W.B.
-
Alter B P. Inherited bone marrow failure syndromes. In: Nathan D G. Stranahan R A. Orkin S H. Look A T. Ginsburg D eds. Nathan and Oski's Hematology of Infancy and Childhood. 6th ed. Philadelphia Saunders W.B. 2003 280-365
-
(2003)
Inherited Bone Marrow Failure Syndromes
, pp. 280-365
-
-
Alter, B.P.1
-
43
-
-
0037487003
-
Thrombopoietin gene expression in the developing human central nervous system
-
DOI 10.1016/S0165-3806(03)00134-2
-
Dame C, Wolber E M., Freitag P, Hofmann D, Bartmann P, Fandrey J. Thrombopoietin gene expression in the developing human central nervous system. Brain Res Dev Brain Res 2003 143 2 217-223 (Pubitemid 36835864)
-
(2003)
Developmental Brain Research
, vol.143
, Issue.2
, pp. 217-223
-
-
Dame, C.1
Wolber, E.-M.2
Freitag, P.3
Hofmann, D.4
Bartmann, P.5
Fandrey, J.6
-
44
-
-
20044380142
-
A hematopoietic growth factor, thrombopoietin, has a proapoptotic role in the brain
-
DOI 10.1073/pnas.0406008102
-
Ehrenreich H, Hasselblatt M, Knerlich F et al. A hematopoietic growth factor, thrombopoietin, has a proapoptotic role in the brain. Proc Natl Acad Sci U S A 2005 102 3 862-867 (Pubitemid 40282756)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.3
, pp. 862-867
-
-
Ehrenreich, H.1
Hasselblatt, M.2
Knerlich, F.3
Von Ahsen, N.4
Jacob, S.5
Sperling, S.6
Woldt, M.7
Vehmeyer, K.8
Nave, K.-A.9
Siren, A.-L.10
-
45
-
-
77954940511
-
Expression pattern of the thrombopoietin receptor (Mpl) in the murine central nervous system
-
Ivanova A, Wuerfel J, Zhang J, Hoffmann O, Ballmaier M, Dame C. Expression pattern of the thrombopoietin receptor (Mpl) in the murine central nervous system. BMC Dev Biol 2010 10 77
-
(2010)
BMC Dev Biol
, vol.10
, pp. 77
-
-
Ivanova, A.1
Wuerfel, J.2
Zhang, J.3
Hoffmann, O.4
Ballmaier, M.5
Dame, C.6
-
46
-
-
79251516074
-
Thrombopoietin contributes to neuronal damage in experimental bacterial meningitis
-
Hoffmann O, Rung O, Im A R. et al. Thrombopoietin contributes to neuronal damage in experimental bacterial meningitis. Infect Immun 2011 79 2 928-936
-
(2011)
Infect Immun
, vol.79
, Issue.2
, pp. 928-936
-
-
Hoffmann, O.1
Rung, O.2
Im, A.R.3
-
47
-
-
0034764283
-
Thrombocytopenia absent corpus callosum syndrome: Third case of a distinct clinical entity
-
DOI 10.1097/00043426-200110000-00016
-
Khabbaze Y, Karayalcin G, Paley C, Shende A, Valderrama E, Lipton J M. Thrombocytopenia absent corpus callosum syndrome: third case of a distinct clinical entity. J Pediatr Hematol Oncol 2001 23 7 469-471 (Pubitemid 33031779)
-
(2001)
Journal of Pediatric Hematology/Oncology
, vol.23
, Issue.7
, pp. 469-471
-
-
Khabbaze, Y.1
Karayalcin, G.2
Paley, C.3
Shende, A.4
Valderrama, E.5
Lipton, J.M.6
-
48
-
-
0032705706
-
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
-
DOI 10.1046/j.1365-2141.1999.01690.x
-
Knight S W., Heiss N S., Vulliamy T J. et al. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. Br J Haematol 1999 107 2 335-339 (Pubitemid 29530220)
-
(1999)
British Journal of Haematology
, vol.107
, Issue.2
, pp. 335-339
-
-
Knight, S.W.1
Heiss, N.S.2
Vulliamy, T.J.3
Aalfs, C.M.4
McMahon, C.5
Richmond, P.6
Jones, A.7
Hennekam, R.C.M.8
Poustka, A.9
Mason, P.J.10
Dokal, I.11
-
49
-
-
62649108879
-
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii
-
Geddis A E. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol Oncol Clin North Am 2009 23 2 321-331
-
(2009)
Hematol Oncol Clin North Am
, vol.23
, Issue.2
, pp. 321-331
-
-
Geddis, A.E.1
-
50
-
-
0025674093
-
A putative truncated cytokine receptor gene transduced by the myeloproliferative leukemia virus immortalizes hematopoietic progenitors
-
Souyri M, Vigon I, Penciolelli J-F, Heard J M., Tambourin P, Wendling F. A putative truncated cytokine receptor gene transduced by the myeloproliferative leukemia virus immortalizes hematopoietic progenitors. Cell 1990 63 6 1137-1147 (Pubitemid 120035063)
-
(1990)
Cell
, vol.63
, Issue.6
, pp. 1137-1147
-
-
Souyri, M.1
Vigon, I.2
Penciolelli, J.-F.3
Heard, J.-M.4
Tambourin, P.5
Wendling, F.6
-
51
-
-
78649854130
-
Molecular mechanisms associated with leukemic transformation of MPL-mutant myeloproliferative neoplasms
-
Beer P A., Ortmann C A., Stegelmann F et al. Molecular mechanisms associated with leukemic transformation of MPL-mutant myeloproliferative neoplasms. Haematologica 2010 95 12 2153-2156
-
(2010)
Haematologica
, vol.95
, Issue.12
, pp. 2153-2156
-
-
Beer, P.A.1
Ortmann, C.A.2
Stegelmann, F.3
-
52
-
-
40549109626
-
Bone marrow failure as a risk factor for clonal evolution: Prospects for leukemia prevention
-
Bagby G C., Meyers G. Bone marrow failure as a risk factor for clonal evolution: prospects for leukemia prevention. Hematology (Am Soc Hematol Educ Program) 2007 40-46
-
(2007)
Hematology (Am Soc Hematol Educ Program)
, pp. 40-46
-
-
Bagby, G.C.1
Meyers, G.2
-
54
-
-
0031012179
-
Diagnosis of Fanconi anemia in patients without congenital malformations: An International Fanconi Anemia Registry study
-
DOI 10.1002/(SICI)1096-8628(1997 0110)68:1<58::AID-AJ G11>3.0.CO;2-N
-
Giampietro P F., Verlander P C., Davis J G., Auerbach A D. Diagnosis of Fanconi anemia in patients without congenital malformations: an international Fanconi Anemia Registry Study. Am J Med Genet 1997 68 1 58-61 (Pubitemid 27023842)
-
(1997)
American Journal of Medical Genetics
, vol.68
, Issue.1
, pp. 58-61
-
-
Giampietro, P.F.1
Verlander, P.C.2
Davis, J.G.3
Auerbach, A.D.4
-
55
-
-
44949143804
-
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations
-
DOI 10.3324/haematol.12317
-
Basel-Vanagaite L, Dokal I, Tamary H et al. Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. Haematologica 2008 93 6 943-944 (Pubitemid 351821737)
-
(2008)
Haematologica
, vol.93
, Issue.6
, pp. 943-944
-
-
Basel-Vanagaite, L.1
Dokal, I.2
Tamary, H.3
Avigdor, A.4
Garty, B.Z.5
Volkov, A.6
Vulliamy, T.7
-
56
-
-
77951029213
-
Bone marrow transplantation for inherited bone marrow failure syndromes
-
Mehta P, Locatelli F, Stary J, Smith F O. Bone marrow transplantation for inherited bone marrow failure syndromes. Pediatr Clin North Am 2010 57 1 147-170
-
(2010)
Pediatr Clin North Am
, vol.57
, Issue.1
, pp. 147-170
-
-
Mehta, P.1
Locatelli, F.2
Stary, J.3
Smith, F.O.4
-
57
-
-
77952674566
-
Pathophysiology and management of inherited bone marrow failure syndromes
-
Shimamura A, Alter B P. Pathophysiology and management of inherited bone marrow failure syndromes. Blood Rev 2010 24 3 101-122
-
(2010)
Blood Rev
, vol.24
, Issue.3
, pp. 101-122
-
-
Shimamura, A.1
Alter, B.P.2
-
58
-
-
78650978155
-
Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia
-
Eurocord and SAA-WP from EBMT 1
-
Bizzetto R, Bonfim C, Rocha V et al, Eurocord and SAA-WP from EBMT. Outcomes after related and unrelated umbilical cord blood transplantation for hereditary bone marrow failure syndromes other than Fanconi anemia. Haematologica 2011 96 1 134-141
-
(2011)
Haematologica
, vol.96
, pp. 134-141
-
-
Bizzetto, R.1
Bonfim, C.2
Rocha, V.3
-
59
-
-
0029817962
-
Ectopic expression of murine TPO receptor (c-mpl) in mice is pathogenic and induces erythroblastic proliferation
-
Cocault L, Bouscary D, Le Bousse Kerdiles C et al. Ectopic expression of murine TPO receptor (c-mpl) in mice is pathogenic and induces erythroblastic proliferation. Blood 1996 88 5 1656-1665 (Pubitemid 26307060)
-
(1996)
Blood
, vol.88
, Issue.5
, pp. 1656-1665
-
-
Cocault, L.1
Bouscary, D.2
Kerdiles, C.L.B.3
Clay, D.4
Picard, F.5
Gisselbrecht, S.6
Souyri, M.7
-
60
-
-
0032870567
-
Ectopic overexpression of c-mpl by retroviral-mediated gene transfer suppressed megakaryopoiesis but enhanced erythropoiesis in mice
-
DOI 10.1016/S0301-472X(99)00069-7, PII S0301472X99000697
-
Yan X Q., Lacey D L., Saris C et al. Ectopic overexpression of c-mpl by retroviral-mediated gene transfer suppressed megakaryopoiesis but enhanced erythropoiesis in mice. Exp Hematol 1999 27 9 1409-1417 (Pubitemid 29409460)
-
(1999)
Experimental Hematology
, vol.27
, Issue.9
, pp. 1409-1417
-
-
Yan, X.-Q.1
Lacey, D.L.2
Saris, C.3
Mu, S.4
Hill, D.5
Hawley, R.G.6
Fletcher, F.A.7
-
61
-
-
76349089317
-
Gene therapy of MPL deficiency: Challenging balance between leukemia and pancytopenia
-
Wicke D C., Meyer J, Buesche G et al. Gene therapy of MPL deficiency: challenging balance between leukemia and pancytopenia. Mol Ther 2010 18 2 343-352
-
(2010)
Mol Ther
, vol.18
, Issue.2
, pp. 343-352
-
-
Wicke, D.C.1
Meyer, J.2
Buesche, G.3
-
62
-
-
61849120146
-
Incomplete restoration of Mpl expression in the mpl-/- mouse produces partial correction of the stem cell-repopulating defect and paradoxical thrombocytosis
-
Lannutti B J., Epp A, Roy J, Chen J, Josephson N C. Incomplete restoration of Mpl expression in the mpl-/- mouse produces partial correction of the stem cell-repopulating defect and paradoxical thrombocytosis. Blood 2009 113 8 1778-1785
-
(2009)
Blood
, vol.113
, Issue.8
, pp. 1778-1785
-
-
Lannutti, B.J.1
Epp, A.2
Roy, J.3
Chen, J.4
Josephson, N.C.5
-
63
-
-
79952678001
-
Lentiviral gene transfer regenerates hematopoietic stem cells in a mouse model for Mpl-deficient aplastic anemia
-
Heckl D, Wicke D C., Brugman M H. et al. Lentiviral gene transfer regenerates hematopoietic stem cells in a mouse model for Mpl-deficient aplastic anemia. Blood 2011 117 14 3737-3747
-
(2011)
Blood
, vol.117
, Issue.14
, pp. 3737-3747
-
-
Heckl, D.1
Wicke, D.C.2
Brugman, M.H.3
|