-
2
-
-
84891301466
-
The genetic basis of myelodysplasia and its clinical relevance
-
M. Cazzola, M.G. Della Porta, and L. Malcovati The genetic basis of myelodysplasia and its clinical relevance Blood 122 2013 4021 4034
-
(2013)
Blood
, vol.122
, pp. 4021-4034
-
-
Cazzola, M.1
Della Porta, M.G.2
Malcovati, L.3
-
3
-
-
34247172535
-
Myelodysplastic syndromes: Incidence and survival in the United States
-
X. Ma, M. Does, and A. Raza Myelodysplastic syndromes: incidence and survival in the United States Cancer 109 2007 1536 1542
-
(2007)
Cancer
, vol.109
, pp. 1536-1542
-
-
Ma, X.1
Does, M.2
Raza, A.3
-
4
-
-
47249150213
-
Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs
-
D.E. Rollison, N. Howlader, and M.T. Smith Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs Blood 112 2008 45 52
-
(2008)
Blood
, vol.112
, pp. 45-52
-
-
Rollison, D.E.1
Howlader, N.2
Smith, M.T.3
-
6
-
-
77950526605
-
The epidemiology of myelodysplastic syndromes
-
M.A. Sekeres The epidemiology of myelodysplastic syndromes Hematol Oncol Clin North Am 24 2010 287 294
-
(2010)
Hematol Oncol Clin North Am
, vol.24
, pp. 287-294
-
-
Sekeres, M.A.1
-
7
-
-
84904520914
-
Prognostic models in myelodysplastic syndromes
-
R. Bejar Prognostic models in myelodysplastic syndromes Hematology Am Soc Hematol Educ Program 2013 2013 504 510
-
(2013)
Hematology Am Soc Hematol Educ Program
, vol.2013
, pp. 504-510
-
-
Bejar, R.1
-
8
-
-
33744492061
-
Antithymocyte globulin and cyclosporine A as combination therapy for low-risk non-sideroblastic myelodysplastic syndromes
-
P.A. Broliden, I.M. Dahl, and R. Hast Antithymocyte globulin and cyclosporine A as combination therapy for low-risk non-sideroblastic myelodysplastic syndromes Haematologica 91 2006 667 670
-
(2006)
Haematologica
, vol.91
, pp. 667-670
-
-
Broliden, P.A.1
Dahl, I.M.2
Hast, R.3
-
9
-
-
34250767166
-
Low IPSS score and bone marrow hypocellularity in MDS patients predict hematological responses to antithymocyte globulin
-
Z.Y. Lim, S. Killick, and U. Germing Low IPSS score and bone marrow hypocellularity in MDS patients predict hematological responses to antithymocyte globulin Leukemia 21 2007 1436 1441
-
(2007)
Leukemia
, vol.21
, pp. 1436-1441
-
-
Lim, Z.Y.1
Killick, S.2
Germing, U.3
-
10
-
-
45149093744
-
Factors affecting response and survival in patients with myelodysplasia treated with immunosuppressive therapy
-
E.M. Sloand, C.O. Wu, and P. Greenberg Factors affecting response and survival in patients with myelodysplasia treated with immunosuppressive therapy J Clin Oncol 26 2008 2505 2511
-
(2008)
J Clin Oncol
, vol.26
, pp. 2505-2511
-
-
Sloand, E.M.1
Wu, C.O.2
Greenberg, P.3
-
11
-
-
79951996237
-
Immunosuppressive therapy for patients with myelodysplastic syndrome: A prospective randomized multicenter phase III trial comparing antithymocyte globulin plus cyclosporine with best supportive care-SAKK 33/99
-
J.R. Passweg, A.A. Giagounidis, and M. Simcock Immunosuppressive therapy for patients with myelodysplastic syndrome: a prospective randomized multicenter phase III trial comparing antithymocyte globulin plus cyclosporine with best supportive care-SAKK 33/99 J Clin Oncol 29 2011 303 309
-
(2011)
J Clin Oncol
, vol.29
, pp. 303-309
-
-
Passweg, J.R.1
Giagounidis, A.A.2
Simcock, M.3
-
12
-
-
77949392920
-
Haematopoeitic cell transplantation for Fanconi anaemia - When and how?
-
M.L. MacMillan, and J.E. Wagner Haematopoeitic cell transplantation for Fanconi anaemia - when and how? Br J Haematol 149 2010 14 21
-
(2010)
Br J Haematol
, vol.149
, pp. 14-21
-
-
Macmillan, M.L.1
Wagner, J.E.2
-
13
-
-
84885400184
-
Transplantation for myelodysplastic syndromes 2013
-
J.E. Vaughn, B.L. Scott, and H.J. Deeg Transplantation for myelodysplastic syndromes 2013 Curr Opin Hematol 20 2013 494 500
-
(2013)
Curr Opin Hematol
, vol.20
, pp. 494-500
-
-
Vaughn, J.E.1
Scott, B.L.2
Deeg, H.J.3
-
14
-
-
84883742527
-
Reduced intensity conditioning is effective for hematopoietic SCT in dyskeratosis congenita-related BM failure
-
M. Ayas, A. Nassar, and A.A. Hamidieh Reduced intensity conditioning is effective for hematopoietic SCT in dyskeratosis congenita-related BM failure Bone Marrow Transplant 48 2013 1168 1172
-
(2013)
Bone Marrow Transplant
, vol.48
, pp. 1168-1172
-
-
Ayas, M.1
Nassar, A.2
Hamidieh, A.A.3
-
15
-
-
84880448795
-
Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita
-
S.M. Gadalla, C. Sales-Bonfim, and J. Carreras Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita Biol Blood Marrow Transplant 19 2013 1238 1243
-
(2013)
Biol Blood Marrow Transplant
, vol.19
, pp. 1238-1243
-
-
Gadalla, S.M.1
Sales-Bonfim, C.2
Carreras, J.3
-
16
-
-
50049114380
-
Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome
-
D. Bhatla, S.M. Davies, and S. Shenoy Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome Bone Marrow Transplant 42 2008 159 165
-
(2008)
Bone Marrow Transplant
, vol.42
, pp. 159-165
-
-
Bhatla, D.1
Davies, S.M.2
Shenoy, S.3
-
17
-
-
0344851536
-
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
-
P.F. Fogarty, H. Yamaguchi, and A. Wiestner Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA Lancet 362 2003 1628 1630
-
(2003)
Lancet
, vol.362
, pp. 1628-1630
-
-
Fogarty, P.F.1
Yamaguchi, H.2
Wiestner, A.3
-
18
-
-
0000160699
-
Failure of red cell production following allogenic BMT for Diamond Blackfan anaemia (DBA) illustrates functional significance of high erythrocyte adenosine deaminase (eADA) activity in the donor
-
[abstract] Abstract 414
-
R.F. Orfali, R.F. Wynn, and R.F. Stevens Failure of red cell production following allogenic BMT for Diamond Blackfan anaemia (DBA) illustrates functional significance of high erythrocyte adenosine deaminase (eADA) activity in the donor [abstract] Blood 94 1999 Abstract 414
-
(1999)
Blood
, vol.94
-
-
Orfali, R.F.1
Wynn, R.F.2
Stevens, R.F.3
-
19
-
-
0037439356
-
Cancer in Fanconi anemia, 1927-2001
-
B.P. Alter Cancer in Fanconi anemia, 1927-2001 Cancer 97 2003 425 440
-
(2003)
Cancer
, vol.97
, pp. 425-440
-
-
Alter, B.P.1
-
21
-
-
67650273697
-
Cancer in dyskeratosis congenita
-
B.P. Alter, N. Giri, and S.A. Savage Cancer in dyskeratosis congenita Blood 113 2009 6549 6557
-
(2009)
Blood
, vol.113
, pp. 6549-6557
-
-
Alter, B.P.1
Giri, N.2
Savage, S.A.3
-
22
-
-
0029400779
-
Identification and treatment of late onset Fanconi's anemia
-
A. Zatterale, R. Calzone, and S. Renda Identification and treatment of late onset Fanconi's anemia Haematologica 80 1995 535 538
-
(1995)
Haematologica
, vol.80
, pp. 535-538
-
-
Zatterale, A.1
Calzone, R.2
Renda, S.3
-
23
-
-
33645091213
-
Delayed diagnosis and complications of Fanconi anaemia at advanced age-a paradigm
-
K. Huck, H. Hanenberg, and S. Gudowius Delayed diagnosis and complications of Fanconi anaemia at advanced age-a paradigm Br J Haematol 133 2006 188 197
-
(2006)
Br J Haematol
, vol.133
, pp. 188-197
-
-
Huck, K.1
Hanenberg, H.2
Gudowius, S.3
-
24
-
-
0242583890
-
Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy
-
M. Bremer, D. Schindler, and M. Gross Fanconi's anemia and clinical radiosensitivity report on two adult patients with locally advanced solid tumors treated by radiotherapy Strahlenther Onkol 179 2003 748 753
-
(2003)
Strahlenther Onkol
, vol.179
, pp. 748-753
-
-
Bremer, M.1
Schindler, D.2
Gross, M.3
-
25
-
-
45249109165
-
Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man
-
C. Reimann, B. Kloeckener-Gruissem, and C.M. Niemeyer Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man J Eur Acad Dermatol Venereol 22 2008 897 898
-
(2008)
J Eur Acad Dermatol Venereol
, vol.22
, pp. 897-898
-
-
Reimann, C.1
Kloeckener-Gruissem, B.2
Niemeyer, C.M.3
-
26
-
-
79961058537
-
Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: Diagnostic features and clinical implications
-
K.R. Calvo, D.C. Vinh, and I. Maric Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications Haematologica 96 2011 1221 1225
-
(2011)
Haematologica
, vol.96
, pp. 1221-1225
-
-
Calvo, K.R.1
Vinh, D.C.2
Maric, I.3
-
27
-
-
77949902065
-
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia
-
D.C. Vinh, S.Y. Patel, and G. Uzel Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia Blood 115 2010 1519 1529
-
(2010)
Blood
, vol.115
, pp. 1519-1529
-
-
Vinh, D.C.1
Patel, S.Y.2
Uzel, G.3
-
28
-
-
84898985439
-
X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora
-
J.B. Powell, I. Dokal, and R. Carr X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora Clin Exp Dermatol 39 2014 310 314
-
(2014)
Clin Exp Dermatol
, vol.39
, pp. 310-314
-
-
Powell, J.B.1
Dokal, I.2
Carr, R.3
-
29
-
-
0021999796
-
Diamond-Blackfan syndrome in adult patients
-
E.P. Balaban, G.R. Buchanan, and M. Graham Diamond-Blackfan syndrome in adult patients Am J Med 78 1985 533 538
-
(1985)
Am J Med
, vol.78
, pp. 533-538
-
-
Balaban, E.P.1
Buchanan, G.R.2
Graham, M.3
-
30
-
-
55549133272
-
Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia
-
T. Pabst, M. Eyholzer, and S. Haefliger Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia J Clin Oncol 26 2008 5088 5093
-
(2008)
J Clin Oncol
, vol.26
, pp. 5088-5093
-
-
Pabst, T.1
Eyholzer, M.2
Haefliger, S.3
-
31
-
-
84868613789
-
Molecular pathogenesis and clinical management of Fanconi anemia
-
Y. Kee, and A.D. D'Andrea Molecular pathogenesis and clinical management of Fanconi anemia J Clin Invest 122 2012 3799 3806
-
(2012)
J Clin Invest
, vol.122
, pp. 3799-3806
-
-
Kee, Y.1
D'Andrea, A.D.2
-
32
-
-
84872578210
-
Fanconi anaemia and the repair of Watson and Crick DNA crosslinks
-
M.C. Kottemann, and A. Smogorzewska Fanconi anaemia and the repair of Watson and Crick DNA crosslinks Nature 493 2013 356 363
-
(2013)
Nature
, vol.493
, pp. 356-363
-
-
Kottemann, M.C.1
Smogorzewska, A.2
-
33
-
-
84879357878
-
Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders
-
B.J. Ballew, and S.A. Savage Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders Expert Rev Hematol 6 2013 327 337
-
(2013)
Expert Rev Hematol
, vol.6
, pp. 327-337
-
-
Ballew, B.J.1
Savage, S.A.2
-
35
-
-
81755166539
-
Congenital amegakaryocytic thrombocytopenia: Clinical presentation, diagnosis, and treatment
-
M. Ballmaier, and M. Germeshausen Congenital amegakaryocytic thrombocytopenia: clinical presentation, diagnosis, and treatment Semin Thromb Hemost 37 2011 673 681
-
(2011)
Semin Thromb Hemost
, vol.37
, pp. 673-681
-
-
Ballmaier, M.1
Germeshausen, M.2
-
36
-
-
78149435818
-
How i treat Diamond-Blackfan anemia
-
A. Vlachos, and E. Muir How I treat Diamond-Blackfan anemia Blood 116 2010 3715 3723
-
(2010)
Blood
, vol.116
, pp. 3715-3723
-
-
Vlachos, A.1
Muir, E.2
-
37
-
-
84872694478
-
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: An update
-
[ix]
-
K.C. Myers, S.M. Davies, and A. Shimamura Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update Hematol Oncol Clin North Am 27 2013 117 128 [ix]
-
(2013)
Hematol Oncol Clin North Am
, vol.27
, pp. 117-128
-
-
Myers, K.C.1
Davies, S.M.2
Shimamura, A.3
-
38
-
-
84872719498
-
ELANE mutations in cyclic and severe congenital neutropenia: Genetics and pathophysiology
-
[vii]
-
M.S. Horwitz, S.J. Corey, and H.L. Grimes ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology Hematol Oncol Clin North Am 27 2013 19 41 [vii]
-
(2013)
Hematol Oncol Clin North Am
, vol.27
, pp. 19-41
-
-
Horwitz, M.S.1
Corey, S.J.2
Grimes, H.L.3
-
39
-
-
84872738388
-
Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase
-
[vii]
-
K. Boztug, and C. Klein Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase Hematol Oncol Clin North Am 27 2013 43 60 [vii]
-
(2013)
Hematol Oncol Clin North Am
, vol.27
, pp. 43-60
-
-
Boztug, K.1
Klein, C.2
-
40
-
-
84894095710
-
GATA2 deficiency: A protean disorder of hematopoiesis, lymphatics, and immunity
-
M.A. Spinner, L.A. Sanchez, and A.P. Hsu GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity Blood 123 2014 809 821
-
(2014)
Blood
, vol.123
, pp. 809-821
-
-
Spinner, M.A.1
Sanchez, L.A.2
Hsu, A.P.3
-
42
-
-
0037306904
-
Cancer incidence in persons with Fanconi anemia
-
P.S. Rosenberg, M.H. Greene, and B.P. Alter Cancer incidence in persons with Fanconi anemia Blood 101 2003 822 826
-
(2003)
Blood
, vol.101
, pp. 822-826
-
-
Rosenberg, P.S.1
Greene, M.H.2
Alter, B.P.3
-
43
-
-
79954595653
-
Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions
-
S. Quentin, W. Cuccuini, and R. Ceccaldi Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions Blood 117 2011 e161 e170
-
(2011)
Blood
, vol.117
, pp. e161-e170
-
-
Quentin, S.1
Cuccuini, W.2
Ceccaldi, R.3
-
44
-
-
19944431331
-
Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway
-
J. Soulier, T. Leblanc, and J. Larghero Detection of somatic mosaicism and classification of Fanconi anemia patients by analysis of the FA/BRCA pathway Blood 105 2005 1329 1336
-
(2005)
Blood
, vol.105
, pp. 1329-1336
-
-
Soulier, J.1
Leblanc, T.2
Larghero, J.3
-
45
-
-
80054808620
-
Clinical utility gene card for: Dyskeratosis congenita
-
I. Dokal, T. Vulliamy, and P. Mason Clinical utility gene card for: dyskeratosis congenita Eur J Hum Genet 2011 19
-
(2011)
Eur J Hum Genet
, pp. 19
-
-
Dokal, I.1
Vulliamy, T.2
Mason, P.3
-
46
-
-
84894078016
-
The evolution of cellular deficiency in GATA2 mutation
-
R.E. Dickinson, P. Milne, and L. Jardine The evolution of cellular deficiency in GATA2 mutation Blood 123 2014 863 874
-
(2014)
Blood
, vol.123
, pp. 863-874
-
-
Dickinson, R.E.1
Milne, P.2
Jardine, L.3
-
47
-
-
84896732313
-
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation
-
R.R. West, A.P. Hsu, and S.M. Holland Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation Haematologica 99 2014 276 281
-
(2014)
Haematologica
, vol.99
, pp. 276-281
-
-
West, R.R.1
Hsu, A.P.2
Holland, S.M.3
-
48
-
-
58149378467
-
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
-
C.J. Owen, C.L. Toze, and A. Koochin Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy Blood 112 2008 4639 4645
-
(2008)
Blood
, vol.112
, pp. 4639-4645
-
-
Owen, C.J.1
Toze, C.L.2
Koochin, A.3
-
49
-
-
74249104168
-
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: Clues for improved identification of the FPD/AML syndrome
-
M.C. Jongmans, R.P. Kuiper, and C.L. Carmichael Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome Leukemia 24 2010 242 246
-
(2010)
Leukemia
, vol.24
, pp. 242-246
-
-
Jongmans, M.C.1
Kuiper, R.P.2
Carmichael, C.L.3
-
50
-
-
48349142469
-
Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions
-
M. Beri-Dexheimer, V. Latger-Cannard, and C. Philippe Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions Eur J Hum Genet 16 2008 1014 1018
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1014-1018
-
-
Beri-Dexheimer, M.1
Latger-Cannard, V.2
Philippe, C.3
-
51
-
-
67049162141
-
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder
-
C. Preudhomme, A. Renneville, and V. Bourdon High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder Blood 113 2009 5583 5587
-
(2009)
Blood
, vol.113
, pp. 5583-5587
-
-
Preudhomme, C.1
Renneville, A.2
Bourdon, V.3
-
52
-
-
16544391755
-
Mutation of CEBPA in familial acute myeloid leukemia
-
M.L. Smith, J.D. Cavenagh, and T.A. Lister Mutation of CEBPA in familial acute myeloid leukemia N Engl J Med 351 2004 2403 2407
-
(2004)
N Engl J Med
, vol.351
, pp. 2403-2407
-
-
Smith, M.L.1
Cavenagh, J.D.2
Lister, T.A.3
-
53
-
-
64849093213
-
Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation
-
A. Renneville, V. Mialou, and N. Philippe Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation Leukemia 23 2009 804 806
-
(2009)
Leukemia
, vol.23
, pp. 804-806
-
-
Renneville, A.1
Mialou, V.2
Philippe, N.3
-
54
-
-
84860782889
-
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia
-
M. Kirwan, A.J. Walne, and V. Plagnol Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia Am J Hum Genet 90 2012 888 892
-
(2012)
Am J Hum Genet
, vol.90
, pp. 888-892
-
-
Kirwan, M.1
Walne, A.J.2
Plagnol, V.3
-
55
-
-
84859469338
-
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia
-
A.J. Walne, A. Dokal, and V. Plagnol Exome sequencing identifies MPL as a causative gene in familial aplastic anemia Haematologica 97 2012 524 528
-
(2012)
Haematologica
, vol.97
, pp. 524-528
-
-
Walne, A.J.1
Dokal, A.2
Plagnol, V.3
-
56
-
-
48749093670
-
Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498)
-
E. Maserati, C. Panarello, and C. Morerio Clonal chromosome anomalies and propensity to myeloid malignancies in congenital amegakaryocytic thrombocytopenia (OMIM 604498) Haematologica 93 2008 1271 1273
-
(2008)
Haematologica
, vol.93
, pp. 1271-1273
-
-
Maserati, E.1
Panarello, C.2
Morerio, C.3
-
57
-
-
0032723176
-
Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d'Hematologie et d'Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI)
-
T.N. Willig, C.M. Niemeyer, and T. Leblanc Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d'Hematologie et d'Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI) Pediatr Res 46 1999 553 561
-
(1999)
Pediatr Res
, vol.46
, pp. 553-561
-
-
Willig, T.N.1
Niemeyer, C.M.2
Leblanc, T.3
-
58
-
-
84863554398
-
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
-
V.G. Sankaran, R. Ghazvinian, and R. Do Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia J Clin Invest 122 2012 2439 2443
-
(2012)
J Clin Invest
, vol.122
, pp. 2439-2443
-
-
Sankaran, V.G.1
Ghazvinian, R.2
Do, R.3
-
59
-
-
84873091956
-
Erythrocyte adenosine deaminase: Diagnostic value for Diamond-Blackfan anaemia
-
J.H. Fargo, C.P. Kratz, and N. Giri Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia Br J Haematol 160 2013 547 554
-
(2013)
Br J Haematol
, vol.160
, pp. 547-554
-
-
Fargo, J.H.1
Kratz, C.P.2
Giri, N.3
-
60
-
-
84860338982
-
Incidence of neoplasia in Diamond Blackfan anemia: A report from the Diamond Blackfan Anemia Registry
-
A. Vlachos, P.S. Rosenberg, and E. Atsidaftos Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry Blood 119 2012 3815 3819
-
(2012)
Blood
, vol.119
, pp. 3815-3819
-
-
Vlachos, A.1
Rosenberg, P.S.2
Atsidaftos, E.3
-
61
-
-
77049235105
-
Infantile genetic agranulocytosis; Agranulocytosis infantilis hereditaria
-
R. Kostmann Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria Acta Paediatr Suppl 45 1956 1 78
-
(1956)
Acta Paediatr Suppl
, vol.45
, pp. 1-78
-
-
Kostmann, R.1
-
62
-
-
84908477706
-
Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene
-
H.K. Cho, and I.S. Jeon Different clinical phenotypes in familial severe congenital neutropenia cases with same mutation of the ELANE gene J Korean Med Sci 29 2014 452 455
-
(2014)
J Korean Med Sci
, vol.29
, pp. 452-455
-
-
Cho, H.K.1
Jeon, I.S.2
-
63
-
-
77954324689
-
Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy
-
P.S. Rosenberg, C. Zeidler, and A.A. Bolyard Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy Br J Haematol 150 2010 196 199
-
(2010)
Br J Haematol
, vol.150
, pp. 196-199
-
-
Rosenberg, P.S.1
Zeidler, C.2
Bolyard, A.A.3
-
64
-
-
33745096897
-
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
-
P.S. Rosenberg, B.P. Alter, and A.A. Bolyard The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy Blood 107 2006 4628 4635
-
(2006)
Blood
, vol.107
, pp. 4628-4635
-
-
Rosenberg, P.S.1
Alter, B.P.2
Bolyard, A.A.3
-
65
-
-
37249056583
-
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
-
P.S. Rosenberg, B.P. Alter, and D.C. Link Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia Br J Haematol 140 2008 210 213
-
(2008)
Br J Haematol
, vol.140
, pp. 210-213
-
-
Rosenberg, P.S.1
Alter, B.P.2
Link, D.C.3
-
66
-
-
84902166547
-
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: A unique pathway in myeloid leukemogenesis
-
J. Skokowa, D. Steinemann, and J.E. Katsman-Kuipers Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis Blood 123 2014 2229 2237
-
(2014)
Blood
, vol.123
, pp. 2229-2237
-
-
Skokowa, J.1
Steinemann, D.2
Katsman-Kuipers, J.E.3
-
67
-
-
34548820699
-
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia
-
D.C. Link, G. Kunter, and Y. Kasai Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia Blood 110 2007 1648 1655
-
(2007)
Blood
, vol.110
, pp. 1648-1655
-
-
Link, D.C.1
Kunter, G.2
Kasai, Y.3
-
68
-
-
84861813715
-
Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia
-
R. Beekman, M.G. Valkhof, and M.A. Sanders Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia Blood 119 2012 5071 5077
-
(2012)
Blood
, vol.119
, pp. 5071-5077
-
-
Beekman, R.1
Valkhof, M.G.2
Sanders, M.A.3
-
69
-
-
84896542431
-
Variable clinical presentation of Shwachman-Diamond syndrome: Update from the North American Shwachman-Diamond Syndrome Registry
-
K.C. Myers, A.A. Bolyard, and B. Otto Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry J Pediatr 164 2014 866 870
-
(2014)
J Pediatr
, vol.164
, pp. 866-870
-
-
Myers, K.C.1
Bolyard, A.A.2
Otto, B.3
-
70
-
-
0036325553
-
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study
-
Y. Dror, P. Durie, and H. Ginzberg Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study Exp Hematol 30 2002 659 669
-
(2002)
Exp Hematol
, vol.30
, pp. 659-669
-
-
Dror, Y.1
Durie, P.2
Ginzberg, H.3
-
71
-
-
64949131886
-
The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome
-
A. Minelli, E. Maserati, and E. Nicolis The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome Leukemia 23 2009 708 711
-
(2009)
Leukemia
, vol.23
, pp. 708-711
-
-
Minelli, A.1
Maserati, E.2
Nicolis, E.3
-
72
-
-
63449134714
-
The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: The role of ageing, karyotype instability, and acquired chromosome anomalies
-
E. Maserati, B. Pressato, and R. Valli The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies Br J Haematol 145 2009 190 197
-
(2009)
Br J Haematol
, vol.145
, pp. 190-197
-
-
Maserati, E.1
Pressato, B.2
Valli, R.3
|