-
1
-
-
63449093617
-
Severe congenital neutropenia: genetics and pathogenesis
-
Boxer LA. Severe congenital neutropenia: genetics and pathogenesis. Trans Am Clin Climatol Assoc 2006;117:13-31.
-
(2006)
Trans Am Clin Climatol Assoc
, vol.117
, pp. 13-31
-
-
Boxer, L.A.1
-
2
-
-
0016612028
-
Infantile genetic agranulocytosis. A review with presentation of ten new cases
-
Kostmann R. Infantile genetic agranulocytosis. A review with presentation of ten new cases. Acta Paediatr Scand 1975;64:362-8.
-
(1975)
Acta Paediatr Scand
, vol.64
, pp. 362-368
-
-
Kostmann, R.1
-
3
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000;96:2317-22.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.A.3
Aprikyan, A.G.4
Bos, C.5
Bonilla, M.A.6
-
4
-
-
33847395071
-
Neutrophil elastase in cyclic and severe congenital neutropenia
-
Horwitz MS, Duan Z, Korkmaz B, Lee HH, Mealiffe ME, Salipante SJ. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007;109:1817-24.
-
(2007)
Blood
, vol.109
, pp. 1817-1824
-
-
Horwitz, M.S.1
Duan, Z.2
Korkmaz, B.3
Lee, H.H.4
Mealiffe, M.E.5
Salipante, S.J.6
-
5
-
-
33845904894
-
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
-
Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39:86-92.
-
(2007)
Nat Genet
, vol.39
, pp. 86-92
-
-
Klein, C.1
Grudzien, M.2
Appaswamy, G.3
Germeshausen, M.4
Sandrock, I.5
Schaffer, A.A.6
-
6
-
-
42049117271
-
Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations
-
Germeshausen M, Grudzien M, Zeidler C, Abdollahpour H, Yetgin S, Rezaei N, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations. Blood 2008;111:4954-7.
-
(2008)
Blood
, vol.111
, pp. 4954-4957
-
-
Germeshausen, M.1
Grudzien, M.2
Zeidler, C.3
Abdollahpour, H.4
Yetgin, S.5
Rezaei, N.6
-
7
-
-
0037310254
-
Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia
-
Kawaguchi H, Kobayashi M, Nakamura K, Konishi N, Miyagawa S, Sato T, et al. Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia. J Leukoc Biol 2003;73: 225-34.
-
(2003)
J Leukoc Biol
, vol.73
, pp. 225-234
-
-
Kawaguchi, H.1
Kobayashi, M.2
Nakamura, K.3
Konishi, N.4
Miyagawa, S.5
Sato, T.6
-
8
-
-
57349091704
-
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene
-
Ishikawa N, Okada S, Miki M, Shirao K, Kihara H, Tsumura M, et al. Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene. J Med Genet 2008;45:802-7.
-
(2008)
J Med Genet
, vol.45
, pp. 802-807
-
-
Ishikawa, N.1
Okada, S.2
Miki, M.3
Shirao, K.4
Kihara, H.5
Tsumura, M.6
-
9
-
-
77049235105
-
Infantile genetic agranulocytosis (agranulocytosis infantilis hereditaria): a new recessive lethal disease in man
-
Kostmann R. Infantile genetic agranulocytosis (agranulocytosis infantilis hereditaria): a new recessive lethal disease in man. Acta Pediatr Scand. 1956; 45:1-78.
-
(1956)
Acta Pediatr Scand
, vol.45
, pp. 1-78
-
-
Kostmann, R.1
-
10
-
-
0036219412
-
Neutropenia: causes and consequences
-
Boxer L and Dale DC. Neutropenia: causes and consequences. Semin Hematol 2002;39:75-81.
-
(2002)
Semin Hematol
, vol.39
, pp. 75-81
-
-
Boxer, L.1
Dale, D.C.2
-
11
-
-
0011982978
-
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy
-
Freedman MH, Bonilla MA, Fier C, Bolyard AA, Scarlata D, Boxer LA, et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 2000;96:429-36.
-
(2000)
Blood
, vol.96
, pp. 429-436
-
-
Freedman, M.H.1
Bonilla, M.A.2
Fier, C.3
Bolyard, A.A.4
Scarlata, D.5
Boxer, L.A.6
-
12
-
-
0036221569
-
Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias
-
Freedman MH and Alter BP. Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias. Semin Hematol 2002;39:128-33.
-
(2002)
Semin Hematol
, vol.39
, pp. 128-133
-
-
Freedman, M.H.1
Alter, B.P.2
-
13
-
-
77954859128
-
A case of Kostmann syndrome
-
(Kostmann 1. 1983;26 284-8 )
-
Yoo HW, Shin SM, Ahn HS, Choi Y, Hong CY. A case of Kostmann syndrome. J Korean Pediatr Soc 1983;26:284-8. (Kostmann 1. 1983;26:284-8.)
-
(1983)
J Korean Pediatr Soc
, vol.26
, pp. 284-288
-
-
Yoo, H.W.1
Shin, S.M.2
Ahn, H.S.3
Choi, Y.4
Hong, C.Y.5
-
14
-
-
77954859282
-
A case of Kostmann syndrome
-
(Kostmann 1 1989;32:1568-73.)
-
Shin WS, Kim SW, Paik IK. A case of Kostmann syndrome. J Korean Pediatr Soc 1989;32:1568-73. (. Kostmann 1 1989;32:1568-73.)
-
(1989)
J Korean Pediatr Soc
, vol.32
, pp. 1568-1573
-
-
Shin, W.S.1
Kim, S.W.2
Paik, I.K.3
-
15
-
-
77954840841
-
A case of congenital neutropenia
-
(1 1989;9:385-9.)
-
Kim SC, Kim MY, Song KE, Suh JS, Lee WK, Kim JS. A case of congenital neutropenia. Korean J Clin Pathol 1989;9:385-9. (1 1989;9:385-9.)
-
(1989)
Korean J Clin Pathol
, vol.9
, pp. 385-389
-
-
Kim, S.C.1
Kim, M.Y.2
Song, K.E.3
Suh, J.S.4
Lee, W.K.5
Kim, J.S.6
-
17
-
-
77954839704
-
A case of Kostmann syndrome treated with recombinant human granulocyte colony-stimulating factor
-
Kostmann 1. 7 188-93
-
Lee JH, Cho B, Sung IK, Kim HK, Lee KS, Han KJ. A case of Kostmann syndrome treated with recombinant human granulocyte colony-stimulating factor. Korean J Perinatol 1996;7:188-93. ( Kostmann 1. 1996;7:188-93.)
-
(1996)
Korean J Perinatol 1996
, vol.7
, pp. 188-193
-
-
Lee, J.H.1
Cho, B.2
Sung, I.K.3
Kim, H.K.4
Lee, K.S.5
Han, K.J.6
-
18
-
-
0027269718
-
A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia
-
Dale DC, Bonilla MA, Davis MW, Nakanishi AM, Hammond WP, Kurtzberg J, et al. A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia. Blood 1993;81:2496-502.
-
(1993)
Blood
, vol.81
, pp. 2496-2502
-
-
Dale, D.C.1
Bonilla, M.A.2
Davis, M.W.3
Nakanishi, A.M.4
Hammond, W.P.5
Kurtzberg, J.6
-
19
-
-
0030815976
-
Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia
-
Freedman MH. Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia. Curr Opin Hematol 1997;4:217-24.
-
(1997)
Curr Opin Hematol
, vol.4
, pp. 217-224
-
-
Freedman, M.H.1
-
20
-
-
0029883652
-
Pathophysiology and treatment of severe chronic neutropenia
-
Welte K and Dale D. Pathophysiology and treatment of severe chronic neutropenia. Ann Hematol 1996;72:158-65.
-
(1996)
Ann Hematol
, vol.72
, pp. 158-165
-
-
Welte, K.1
Dale, D.2
-
21
-
-
0030814335
-
Severe chronic neutropenia: pathophysiology and therapy
-
Welte K and Boxer LA. Severe chronic neutropenia: pathophysiology and therapy. Semin Hematol 1997;34:267-78.
-
(1997)
Semin Hematol
, vol.34
, pp. 267-278
-
-
Welte, K.1
Boxer, L.A.2
-
23
-
-
0034651925
-
Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation
-
Zeidler C, Welte K, Barak Y, Barriga F, Bolyard AA, Boxer L, et al. Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood 2000;95: 1195-8.
-
(2000)
Blood
, vol.95
, pp. 1195-1198
-
-
Zeidler, C.1
Welte, K.2
Barak, Y.3
Barriga, F.4
Bolyard, A.A.5
Boxer, L.6
-
24
-
-
77954846992
-
Effect of granulocyte colony-stimulating factor in a patient with congenital agranulocytosis
-
G-CSF. BRM 4 123-30
-
Seo JJ, Moon SH, Cha SW, Ko KO, Chung YH, Anh HS, et al. Effect of granulocyte colony-stimulating factor in a patient with congenital agranulocytosis. Korean J BRM 1994;4:123-30. ((G-CSF). BRM 1994;4:123-30.)
-
(1994)
Korean J BRM
, vol.1994
, pp. 123-130
-
-
Seo, J.J.1
Moon, S.H.2
Cha, S.W.3
Ko, K.O.4
Chung, Y.H.5
Anh, H.S.6
-
25
-
-
0035525791
-
Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease
-
Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood 2001;98: 2645-50.
-
(2001)
Blood
, vol.98
, pp. 2645-2650
-
-
Ancliff, P.J.1
Gale, R.E.2
Liesner, R.3
Hann, I.M.4
Linch, D.C.5
-
26
-
-
0029129034
-
Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia
-
Dong F, Brynes RK, Tidow N, Welte K, Lowenberg B, Touw IP. Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N Engl J Med 1995;333:487-93.
-
(1995)
N Engl J Med
, vol.333
, pp. 487-493
-
-
Dong, F.1
Brynes, R.K.2
Tidow, N.3
Welte, K.4
Lowenberg, B.5
Touw, I.P.6
-
27
-
-
0035093787
-
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
-
Devriendt K, Kim AS, Mathijs G, Frints SG, Schwartz M, Van Den Oord JJ, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001;27:313-7.
-
(2001)
Nat Genet
, vol.27
, pp. 313-317
-
-
Devriendt, K.1
Kim, A.S.2
Mathijs, G.3
Frints, S.G.4
Schwartz, M.5
Van Den Oord, J.J.6
-
28
-
-
0038757823
-
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
-
Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003;34:308-12.
-
(2003)
Nat Genet
, vol.34
, pp. 308-312
-
-
Person, R.E.1
Li, F.Q.2
Duan, Z.3
Benson, K.F.4
Wechsler, J.5
Papadaki, H.A.6
-
29
-
-
33749510883
-
LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia
-
Skokowa J, Cario G, Uenalan M, Schambach A, Germeshausen M, Battmer K, et al. LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med 2006;12:1191-7.
-
(2006)
Nat Med
, vol.12
, pp. 1191-1197
-
-
Skokowa, J.1
Cario, G.2
Uenalan, M.3
Schambach, A.4
Germeshausen, M.5
Battmer, K.6
-
30
-
-
67651050077
-
A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia
-
Lee ST, Yoon HS, Kim HJ, Lee JH, Park JH, Kim SH, et al. A novel mutation Ala57Val of the ELA2 gene in a Korean boy with severe congenital neutropenia. Ann Hematol 2009;88:593-5.
-
(2009)
Ann Hematol
, vol.88
, pp. 593-595
-
-
Lee, S.T.1
Yoon, H.S.2
Kim, H.J.3
Lee, J.H.4
Park, J.H.5
Kim, S.H.6
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