-
1
-
-
0003544525
-
Reference ranges for leukocyte counts in children
-
Nathan DG, Orkin SH, eds. Philadelphia: WB Saunders Company; (Appendices XV)
-
Dallman PR. Reference ranges for leukocyte counts in children. In: Nathan DG, Orkin SH, eds. Nathan and Oski's Hematology of Infancy and Childhood. Philadelphia: WB Saunders Company; 1998 (Appendices XV).
-
(1998)
Nathan and Oski's Hematology of Infancy and Childhood
-
-
Dallman, P.R.1
-
2
-
-
0026092859
-
Leukopenia, neutropenia, and reduced hemoglobin levels in healthy American blacks
-
Reed WW, Diehl LF. Leukopenia, neutropenia, and reduced hemoglobin levels in healthy American blacks. Arch Intern Med 1991; 151: 501-505.
-
(1991)
Arch Intern Med
, vol.151
, pp. 501-505
-
-
Reed, W.W.1
Diehl, L.F.2
-
3
-
-
0020616416
-
Differences in polymorphonuclear cell counts between healthy white and black infants: Response to meningitis
-
Sadowitz PD, Oski FA. Differences in polymorphonuclear cell counts between healthy white and black infants: response to meningitis. Pediatrics 1983; 72: 405-407.
-
(1983)
Pediatrics
, vol.72
, pp. 405-407
-
-
Sadowitz, P.D.1
Oski, F.A.2
-
4
-
-
0001754321
-
The phagocyte system and disorders of granulopoiesis and granulocyte function
-
Nathan DG, Orkin SH, eds. Philadelphia: WB Saunders Company
-
Dinauer MC. The phagocyte system and disorders of granulopoiesis and granulocyte function. In: Nathan DG, Orkin SH, eds. Nathan and Oski's Hematology of Infancy and Childhood. Philadelphia: WB Saunders Company; 1998: 910.
-
(1998)
Nathan and Oski's Hematology of Infancy and Childhood
, pp. 910
-
-
Dinauer, M.C.1
-
5
-
-
0001754321
-
The phagocyte system and disorders of granulopoiesis and granulocyte function
-
Nathan DG, Orkin SH, eds. Philadelphia: WB Saunders Company
-
Dinauer MC. The phagocyte system and disorders of granulopoiesis and granulocyte function. In: Nathan DG, Orkin SH, eds. Nathan and Oski's Hematology of Infancy and Childhood. Philadelphia: WB Saunders Company; 1998: 917-918.
-
(1998)
Nathan and Oski's Hematology of Infancy and Childhood
, pp. 917-918
-
-
Dinauer, M.C.1
-
8
-
-
0029883652
-
Pathophysiology and treatment of severe chronic neutropenia
-
Welte K, Dale D. Pathophysiology and treatment of severe chronic neutropenia. Ann Hematol 1996; 72: 158-165.
-
(1996)
Ann Hematol
, vol.72
, pp. 158-165
-
-
Welte, K.1
Dale, D.2
-
9
-
-
0031964652
-
Diagnosis and clinical course of autoimmune neutropenia in infancy: Analysis of 240 cases
-
Bux J, Behrens G, Jaeger G, Welte K. Diagnosis and clinical course of autoimmune neutropenia in infancy: analysis of 240 cases. Blood 1998; 91: 181-186.
-
(1998)
Blood
, vol.91
, pp. 181-186
-
-
Bux, J.1
Behrens, G.2
Jaeger, G.3
Welte, K.4
-
10
-
-
77049235105
-
Infantile genetic agranulocytosis
-
Kostmann R. Infantile genetic agranulocytosis. Acta Paediatr 1956; 45(suppl 105): 1-78.
-
(1956)
Acta Paediatr
, vol.45
, Issue.SUPPL. 105
, pp. 1-78
-
-
Kostmann, R.1
-
11
-
-
0036216657
-
Kostmann syndrome and severe congenital neutropenia
-
Zeidler C, Welte K. Kostmann syndrome and severe congenital neutropenia. Semin Hematol 2002; 39: 82-88.
-
(2002)
Semin Hematol
, vol.39
, pp. 82-88
-
-
Zeidler, C.1
Welte, K.2
-
12
-
-
0025764759
-
Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia
-
Mempel K, Pietsch T, Menzel T, Zeidler C, Welte K. Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia. Blood 1991; 77: 1919-1922.
-
(1991)
Blood
, vol.77
, pp. 1919-1922
-
-
Mempel, K.1
Pietsch, T.2
Menzel, T.3
Zeidler, C.4
Welte, K.5
-
13
-
-
0026586478
-
Expression of receptors for granulocyte colony-stimulating factor on neutrophils from patients with severe congenital neutropenia and cyclic neutropenia
-
Kyas U, Pietsch T, Welte K. Expression of receptors for granulocyte colony-stimulating factor on neutrophils from patients with severe congenital neutropenia and cyclic neutropenia, Blood 1992; 79: 1144-1147.
-
(1992)
Blood
, vol.79
, pp. 1144-1147
-
-
Kyas, U.1
Pietsch, T.2
Welte, K.3
-
14
-
-
0028206608
-
Granulocyte colony-stimulating factor (G-CSF) production and G-CSF receptor structure in patients with congenital neutropenia
-
Guba SC, Sartor CA, Hutchinson R, Boxer LA, Emerson SG. Granulocyte colony-stimulating factor (G-CSF) production and G-CSF receptor structure in patients with congenital neutropenia. Blood 1994; 83: 1486-1492.
-
(1994)
Blood
, vol.83
, pp. 1486-1492
-
-
Guba, S.C.1
Sartor, C.A.2
Hutchinson, R.3
Boxer, L.A.4
Emerson, S.G.5
-
15
-
-
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 et al. 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: 487-493.
-
(1995)
N Engl J Med
, vol.333
, pp. 487-493
-
-
Dong, F.1
Brynes, R.K.2
Tidow, N.3
-
16
-
-
0030945921
-
Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia
-
Tidow N, Pilz C, Teichmann B et al. Clinical relevance of point mutations in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Blood 1997; 89: 2369-2375.
-
(1997)
Blood
, vol.89
, pp. 2369-2375
-
-
Tidow, N.1
Pilz, C.2
Teichmann, B.3
-
17
-
-
0033575794
-
Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment
-
Ward AC, van Aesch YM, Gits J et al. Novel point mutation in the extracellular domain of the granulocyte colony-stimulating factor (G-CSF) receptor in a case of severe congenital neutropenia hyporesponsive to G-CSF treatment. J Exp Med 1999; 190: 497-507.
-
(1999)
J Exp Med
, vol.190
, pp. 497-507
-
-
Ward, A.C.1
Van Aesch, Y.M.2
Gits, J.3
-
18
-
-
0009802226
-
Genetic and biochemical characterization of a deletional mutation of the extra-cellular domain of the human G-CSF receptor in a child with severe congenital neutropenia unresponsive to neupogen [abstract]
-
Sinha S, Watkins S, Corey SJ. Genetic and biochemical characterization of a deletional mutation of the extra-cellular domain of the human G-CSF receptor in a child with severe congenital neutropenia unresponsive to neupogen [abstract]. Blood 2001; 98: 440a.
-
(2001)
Blood
, vol.98
-
-
Sinha, S.1
Watkins, S.2
Corey, S.J.3
-
19
-
-
0032757863
-
Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis
-
Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC. Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 1999; 23: 433-436.
-
(1999)
Nat Genet
, vol.23
, pp. 433-436
-
-
Horwitz, M.1
Benson, K.F.2
Person, R.E.3
Aprikyan, A.G.4
Dale, D.C.5
-
20
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
Dale DC, Person RE, Bolyard AA et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96: 2317-2322.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.A.3
-
21
-
-
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: 2645-2650.
-
(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
-
22
-
-
0034782759
-
Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia
-
Germeshausen M, Schulze H, Ballmaier M, Zeidler C, Welte K. Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia. Br J Haematol 2001; 115: 222-224.
-
(2001)
Br J Haematol
, vol.115
, pp. 222-224
-
-
Germeshausen, M.1
Schulze, H.2
Ballmaier, M.3
Zeidler, C.4
Welte, K.5
-
23
-
-
0037100469
-
Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia
-
Ancliff PJ, Gale RE, Watts MJ et al. Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia. Blood 2002; 100: 707-709.
-
(2002)
Blood
, vol.100
, pp. 707-709
-
-
Ancliff, P.J.1
Gale, R.E.2
Watts, M.J.3
-
24
-
-
0024538840
-
Expression of the neutrophil elastase gene during human bone marrow cell differentiation
-
Fouret P, du Bois RM, Bernaudin JF et al. Expression of the neutrophil elastase gene during human bone marrow cell differentiation. J Exp Med 1989; 169: 833-845.
-
(1989)
J Exp Med
, vol.169
, pp. 833-845
-
-
Fouret, P.1
Du Bois, R.M.2
Bernaudin, J.F.3
-
25
-
-
0033402823
-
Processing and targeting of granule proteins in human neutrophils
-
Gullberg U, Bengtsson N, Bulow E et al. Processing and targeting of granule proteins in human neutrophils. J Immunol Methods 1999; 232: 201-210.
-
(1999)
J Immunol Methods
, vol.232
, pp. 201-210
-
-
Gullberg, U.1
Bengtsson, N.2
Bulow, E.3
-
26
-
-
0030997435
-
Granules of the human neutrophilic polymorphonuclear leukocyte
-
Borregaard N, Cowland JB. Granules of the human neutrophilic polymorphonuclear leukocyte. Blood 1997; 89: 3503-3521.
-
(1997)
Blood
, vol.89
, pp. 3503-3521
-
-
Borregaard, N.1
Cowland, J.B.2
-
27
-
-
0025200926
-
Antimicrobial polypeptides of human neutrophils
-
Lehrer RI, Ganz T. Antimicrobial polypeptides of human neutrophils. Blood 1990; 76: 2169-2181.
-
(1990)
Blood
, vol.76
, pp. 2169-2181
-
-
Lehrer, R.I.1
Ganz, T.2
-
28
-
-
0028366748
-
Mechanisms of tissue damage by leukocytes
-
Lehr HA, Arfors KE. Mechanisms of tissue damage by leukocytes. Curr Opin Hematol 1994; 1: 92-99.
-
(1994)
Curr Opin Hematol
, vol.1
, pp. 92-99
-
-
Lehr, H.A.1
Arfors, K.E.2
-
29
-
-
0036264599
-
Neutrophils and the pathogenesis of COPD
-
Stockley RA. Neutrophils and the pathogenesis of COPD. Chest 2002; 121: 151S-155S.
-
(2002)
Chest
, vol.121
-
-
Stockley, R.A.1
-
30
-
-
0034144636
-
Impaired immunity and enhanced resistance to endotoxin in the absence of neutrophil elastase and cathepsin G
-
Tkalcevic J, Novelli M, Phylactides M et al. Impaired immunity and enhanced resistance to endotoxin in the absence of neutrophil elastase and cathepsin G. Immunity 2000; 12: 201-210.
-
(2000)
Immunity
, vol.12
, pp. 201-210
-
-
Tkalcevic, J.1
Novelli, M.2
Phylactides, M.3
-
31
-
-
0031836105
-
Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis
-
Belaaouai A, McCarthy R, Baumann M et al. Mice lacking neutrophil elastase reveal impaired host defense against gram negative bacterial sepsis. Nat Med 1998; 4: 615-618.
-
(1998)
Nat Med
, vol.4
, pp. 615-618
-
-
Belaaouai, A.1
McCarthy, R.2
Baumann, M.3
-
32
-
-
0035669302
-
Intracellular serpins in haemopoietic and peripheral blood cells
-
Morris EC, Carrell RW, Coughlin PB. Intracellular serpins in haemopoietic and peripheral blood cells. Br J Haematol 2001; 115: 758-766.
-
(2001)
Br J Haematol
, vol.115
, pp. 758-766
-
-
Morris, E.C.1
Carrell, R.W.2
Coughlin, P.B.3
-
33
-
-
0037516735
-
Aberrant subcellular localization of neutrophil elastase in cyclic neutropenia
-
Aprikyan A, Oganesian A, Dale D. Aberrant subcellular localization of neutrophil elastase in cyclic neutropenia (abstract. Blood 2003; 100: 80a-81a.
-
(2003)
Blood
, vol.100
-
-
Aprikyan, A.1
Oganesian, A.2
Dale, D.3
-
34
-
-
0035957966
-
Characterization of mutant neutrophil elastase in severe congenital neutropenia
-
Li FQ, Horwitz M. Characterization of mutant neutrophil elastase in severe congenital neutropenia. J Biol Chem 2001; 276: 14230-14241.
-
(2001)
J Biol Chem
, vol.276
, pp. 14230-14241
-
-
Li, F.Q.1
Horwitz, M.2
-
35
-
-
0036839563
-
Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis
-
Grenda DS, Johnson SE, Mayer JR et al. Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis. Blood 2002; 100: 3221-3228.
-
(2002)
Blood
, vol.100
, pp. 3221-3228
-
-
Grenda, D.S.1
Johnson, S.E.2
Mayer, J.R.3
-
36
-
-
0035161158
-
Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia
-
Aprikyan AA, Liles WC, Rodger E et al. Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia. Blood 2001; 97: 147-153.
-
(2001)
Blood
, vol.97
, pp. 147-153
-
-
Aprikyan, A.A.1
Liles, W.C.2
Rodger, E.3
-
37
-
-
0034627773
-
Nuclear translocation of a leukocyte elastase inhibitor/elastase complex during staurosporine-induced apoptosis: Role in the generation of nuclear L-DNase II activity
-
Belmokhtar CA, Torriglia A, Counis MF et al. Nuclear translocation of a leukocyte elastase inhibitor/elastase complex during staurosporine-induced apoptosis: role in the generation of nuclear L-DNase II activity. Exp Cell Res 2000; 254: 99-109.
-
(2000)
Exp Cell Res
, vol.254
, pp. 99-109
-
-
Belmokhtar, C.A.1
Torriglia, A.2
Counis, M.F.3
-
38
-
-
0038192122
-
Complete inhibition of neutrophil elastase fails to correct the in vitro phenotype of severe congenital neutropenia (abstract)
-
Ancliff PJ, Gale RE, Somervaille TC et al. Complete inhibition of neutrophil elastase fails to correct the in vitro phenotype of severe congenital neutropenia (abstract). Blood 2002; 100: 243.
-
(2002)
Blood
, vol.100
, pp. 243
-
-
Ancliff, P.J.1
Gale, R.E.2
Somervaille, T.C.3
-
39
-
-
0001652428
-
The bone marrow failure syndromes
-
Nathan DG, Orkin SH, eds. Philadelphia: WB Saunders Company
-
Alter BP, Young NS. The bone marrow failure syndromes. In: Nathan DG, Orkin SH, eds. Nathan and Oski's Hematology of Infancy and Childhood. Philadelphia: WB Saunders Company; 1998: 306.
-
(1998)
Nathan and Oski's Hematology of Infancy and Childhood
, pp. 306
-
-
Alter, B.P.1
Young, N.S.2
-
40
-
-
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 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: 2496-2502.
-
(1993)
Blood
, vol.81
, pp. 2496-2502
-
-
Dale, D.C.1
Bonilla, M.A.2
Davis, M.W.3
-
41
-
-
0036221569
-
Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias
-
Freedman MH, Alter BP. Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias. Semin Hematol 2002; 39: 128-133.
-
(2002)
Semin Hematol
, vol.39
, pp. 128-133
-
-
Freedman, M.H.1
Alter, B.P.2
-
42
-
-
0034651925
-
Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation
-
Zeidler C, Welte K, Barak Y et al. Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood 2000; 95: 1195-1198.
-
(2000)
Blood
, vol.95
, pp. 1195-1198
-
-
Zeidler, C.1
Welte, K.2
Barak, Y.3
-
43
-
-
0037330440
-
Long-term follow-up of G-CSF receptor mutations in patients with severe congenital neutropenia: Implications for leukaemogenesis and therapy
-
Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. Long-term follow-up of G-CSF receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy. Br J Haematol 2003; 120: 685-690.
-
(2003)
Br J Haematol
, vol.120
, pp. 685-690
-
-
Ancliff, P.J.1
Gale, R.E.2
Liesner, R.3
Hann, I.M.4
Linch, D.C.5
-
44
-
-
0011982978
-
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy
-
Freedman MH, Bonilla MA, Fier C et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 2000; 96: 429-436.
-
(2000)
Blood
, vol.96
, pp. 429-436
-
-
Freedman, M.H.1
Bonilla, M.A.2
Fier, C.3
-
45
-
-
0028807618
-
Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia
-
Kalra R, Dale D, Freedman M et al. Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia. Blood 1995; 86: 4579-4586.
-
(1995)
Blood
, vol.86
, pp. 4579-4586
-
-
Kalra, R.1
Dale, D.2
Freedman, M.3
-
46
-
-
0031970399
-
Mutations of the granulocyte-colony stimulating factor receptor in patients with severe congenital neutropenia are not required for transformation to acute myeloid leukaemia and may be a bystander phenomenon
-
Bernard T, Gale RE, Evans JP, Linch DC. Mutations of the granulocyte-colony stimulating factor receptor in patients with severe congenital neutropenia are not required for transformation to acute myeloid leukaemia and may be a bystander phenomenon. Br J Haematol 1998; 101: 141-149.
-
(1998)
Br J Haematol
, vol.101
, pp. 141-149
-
-
Bernard, T.1
Gale, R.E.2
Evans, J.P.3
Linch, D.C.4
-
47
-
-
0032146530
-
Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia
-
McLemore ML, Poursine-Laurent J, Link DC. Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia. J Clin Invest 1998; 102: 483-492.
-
(1998)
J Clin Invest
, vol.102
, pp. 483-492
-
-
McLemore, M.L.1
Poursine-Laurent, J.2
Link, D.C.3
-
48
-
-
0033557171
-
Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene
-
Hermans MH, Antonissen C, Ward AC et al. Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene. J Exp Med 1999; 189: 683-692.
-
(1999)
J Exp Med
, vol.189
, pp. 683-692
-
-
Hermans, M.H.1
Antonissen, C.2
Ward, A.C.3
-
49
-
-
0034670015
-
Spontaneous remission of granulocyte colony-stimulating factor-associated leukemia in a child with severe congenital neutropenia
-
Jeha S, Chan KW, Aprikyan AG et al. Spontaneous remission of granulocyte colony-stimulating factor-associated leukemia in a child with severe congenital neutropenia. Blood 2000; 96: 3647-3649.
-
(2000)
Blood
, vol.96
, pp. 3647-3649
-
-
Jeha, S.1
Chan, K.W.2
Aprikyan, A.G.3
-
51
-
-
0036221174
-
Idiopathic, immune, infectious, and idiosyncratic neutropenias
-
Palmblad JE, dem Borne AE. Idiopathic, immune, infectious, and idiosyncratic neutropenias. Semin Hematol 2002; 39: 113-120.
-
(2002)
Semin Hematol
, vol.39
, pp. 113-120
-
-
Palmblad, J.E.1
Dem Borne, A.E.2
-
52
-
-
0036042153
-
Shwachman-Diamond syndrome
-
Dror Y, Freedman MH. Shwachman-Diamond syndrome. Br J Haematol 2002; 118: 701-713.
-
(2002)
Br J Haematol
, vol.118
, pp. 701-713
-
-
Dror, Y.1
Freedman, M.H.2
-
53
-
-
0033230361
-
Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment
-
Dror Y, Freedman MH. Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment. Blood 1999; 94: 3048-3054.
-
(1999)
Blood
, vol.94
, pp. 3048-3054
-
-
Dror, Y.1
Freedman, M.H.2
-
54
-
-
0035874541
-
Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway
-
Dror Y, Freedman MH. Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway. Blood 2001; 97: 3011-3016.
-
(2001)
Blood
, vol.97
, pp. 3011-3016
-
-
Dror, Y.1
Freedman, M.H.2
-
55
-
-
0034785794
-
Immune function in patients with Shwachman-Diamond syndrome
-
Dror Y, Ginzberg H, Dalal I et al. Immune function in patients with Shwachman-Diamond syndrome. Br J Haematol 2001; 114: 712-717.
-
(2001)
Br J Haematol
, vol.114
, pp. 712-717
-
-
Dror, Y.1
Ginzberg, H.2
Dalal, I.3
-
56
-
-
0037229094
-
Mutations in SBDS are associated with Shwachman-Diamond syndrome
-
Boocock GR, Morrison JA, Popovic M et al. Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 2003; 33: 97-101.
-
(2003)
Nat Genet
, vol.33
, pp. 97-101
-
-
Boocock, G.R.1
Morrison, J.A.2
Popovic, M.3
-
57
-
-
0029807493
-
Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression
-
Mack DR, Forstner GG, Wilschanski M, Freedman MH, Durie PR. Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996; 111: 1593-1602.
-
(1996)
Gastroenterology
, vol.111
, pp. 1593-1602
-
-
Mack, D.R.1
Forstner, G.G.2
Wilschanski, M.3
Freedman, M.H.4
Durie, P.R.5
-
58
-
-
0033497428
-
Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
-
Ginzberg H, Shin J, Ellis L et al. Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 1999; 135: 81-88.
-
(1999)
J Pediatr
, vol.135
, pp. 81-88
-
-
Ginzberg, H.1
Shin, J.2
Ellis, L.3
-
59
-
-
0036325553
-
Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: A prospective 5-year follow-up study
-
Dror Y, Durie P, Ginzberg H et al. Clonal evolution in marrows of patients with Shwachman-Diamond syndrome: a prospective 5-year follow-up study. Exp Hematol 2002; 30: 659-669.
-
(2002)
Exp Hematol
, vol.30
, pp. 659-669
-
-
Dror, Y.1
Durie, P.2
Ginzberg, H.3
-
60
-
-
18744386071
-
Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome
-
Cunningham J, Sales M, Pearce A et al. Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome. Br J Haematol 2002; 119: 1062-1069.
-
(2002)
Br J Haematol
, vol.119
, pp. 1062-1069
-
-
Cunningham, J.1
Sales, M.2
Pearce, A.3
-
61
-
-
0036214086
-
Glycogen storage disease
-
Kannourakis G. Glycogen storage disease. Semin Hematol 2002; 39: 103-106.
-
(2002)
Semin Hematol
, vol.39
, pp. 103-106
-
-
Kannourakis, G.1
-
62
-
-
0032726517
-
Liver transplantation for glycogen storage disease types I, III, and IV
-
Matern D, Starzl TE, Arnaout W et al. Liver transplantation for glycogen storage disease types I, III, and IV. Eur J Pediatr 1999; 158(suppl 2): S43-S48.
-
(1999)
Eur J Pediatr
, vol.158
, Issue.SUPPL. 2
-
-
Matern, D.1
Starzl, T.E.2
Arnaout, W.3
-
63
-
-
0035863817
-
Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type Ib
-
Calderwood S, Kilpatrick L, Douglas SD et al. Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type Ib. Blood 2001; 97: 376-382.
-
(2001)
Blood
, vol.97
, pp. 376-382
-
-
Calderwood, S.1
Kilpatrick, L.2
Douglas, S.D.3
-
64
-
-
0036390035
-
Association of glycogen storage disease Ib and Crohn disease: Results of a North American survey
-
Dieckgraefe BK, Korzenik JR, Husain A, Dieruf L. Association of glycogen storage disease Ib and Crohn disease: results of a North American survey. Eur J Pediatr 2002; 161(suppl 2): S88-S92.
-
(2002)
Eur J Pediatr
, vol.161
, Issue.SUPPL. 2
-
-
Dieckgraefe, B.K.1
Korzenik, J.R.2
Husain, A.3
Dieruf, L.4
-
65
-
-
0036900584
-
Acute myelogenous leukemia and glycogen storage disease Ib
-
Pinsk M, Burzynski J, Yhap M et al. Acute myelogenous leukemia and glycogen storage disease Ib. J Pediatr Hematol Oncol 2002; 24: 756-758.
-
(2002)
J Pediatr Hematol Oncol
, vol.24
, pp. 756-758
-
-
Pinsk, M.1
Burzynski, J.2
Yhap, M.3
-
66
-
-
0036216719
-
Neutropenia associated with primary immunodeficiency syndromes
-
Cham B, Bonilla MA, Winkelstein J. Neutropenia associated with primary immunodeficiency syndromes. Semin Hematol 2002; 39: 107-112.
-
(2002)
Semin Hematol
, vol.39
, pp. 107-112
-
-
Cham, B.1
Bonilla, M.A.2
Winkelstein, J.3
-
67
-
-
0030702854
-
Clinical spectrum of X-linked hyper-IgM syndrome
-
Levy J, Espanol-Boren T, Thomas C et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997; 131: 47-54.
-
(1997)
J Pediatr
, vol.131
, pp. 47-54
-
-
Levy, J.1
Espanol-Boren, T.2
Thomas, C.3
-
68
-
-
18844466475
-
CD40-ligand stimulates myelopoiesis by regulating flt3-ligand and thrombopoietin production in bone marrow stromal cells
-
Solanilla A, Dechanet J, El Andaloussi A et al. CD40-ligand stimulates myelopoiesis by regulating flt3-ligand and thrombopoietin production in bone marrow stromal cells. Blood 2000; 95: 3758-3764.
-
(2000)
Blood
, vol.95
, pp. 3758-3764
-
-
Solanilla, A.1
Dechanet, J.2
El Andaloussi, A.3
-
69
-
-
0035093787
-
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
-
Devriendt K, Kim AS, Mathijs G et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001; 27: 313-317.
-
(2001)
Nat Genet
, vol.27
, pp. 313-317
-
-
Devriendt, K.1
Kim, A.S.2
Mathijs, G.3
-
70
-
-
0242338234
-
Activating mutations in the Wiskott Aldrich syndrome protein may define a sub-group of severe congenital neutropenia with specific and unusual laboratory features [abstract]
-
Ancliff PJ, Blundell MP, Gale RE et al. Activating mutations in the Wiskott Aldrich syndrome protein may define a sub-group of severe congenital neutropenia with specific and unusual laboratory features [abstract]. Blood 2001; 98: 439.
-
(2001)
Blood
, vol.98
, pp. 439
-
-
Ancliff, P.J.1
Blundell, M.P.2
Gale, R.E.3
-
71
-
-
0033972915
-
Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors
-
Aprikyan AA, Liles WC, Park JR et al. Myelokathexis, a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors. Blood 2000; 95: 320-327.
-
(2000)
Blood
, vol.95
, pp. 320-327
-
-
Aprikyan, A.A.1
Liles, W.C.2
Park, J.R.3
-
72
-
-
0018712317
-
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction
-
Pearson HA, Lobel JS, Kocoshis SA et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979; 95: 976-984.
-
(1979)
J Pediatr
, vol.95
, pp. 976-984
-
-
Pearson, H.A.1
Lobel, J.S.2
Kocoshis, S.A.3
-
73
-
-
0025133424
-
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
-
Rotig A, Cormier V, Blanche S et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990; 86: 1601-1608.
-
(1990)
J Clin Invest
, vol.86
, pp. 1601-1608
-
-
Rotig, A.1
Cormier, V.2
Blanche, S.3
-
74
-
-
0020974404
-
An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes
-
Barth PG, Scholte HR, Berden JA et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci 1983; 62: 327-355.
-
(1983)
J Neurol Sci
, vol.62
, pp. 327-355
-
-
Barth, P.G.1
Scholte, H.R.2
Berden, J.A.3
-
75
-
-
79960970860
-
Neutropenia in Barth syndrome: Clinical course and treatment of neutropenia [abstract]
-
Zeidler C, Barth PG, Bonilla MA et al. Neutropenia in Barth syndrome: clinical course and treatment of neutropenia [abstract]. Blood 2001; 98: 300.
-
(2001)
Blood
, vol.98
, pp. 300
-
-
Zeidler, C.1
Barth, P.G.2
Bonilla, M.A.3
-
76
-
-
0029963145
-
A novel X-linked gene, G4.5. is responsible for Barth syndrome
-
Bione S, D'Adamo P, Maestrini E et al. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nat Genet 1996; 12: 385-389.
-
(1996)
Nat Genet
, vol.12
, pp. 385-389
-
-
Bione, S.1
D'Adamo, P.2
Maestrini, E.3
|