-
1
-
-
0031922316
-
The hematopoietic garden. How does it grow?
-
J.M. Lipton The hematopoietic garden. How does it grow? J. Pediatr. 132 1998 565 567
-
(1998)
J. Pediatr.
, vol.132
, pp. 565-567
-
-
Lipton, J.M.1
-
2
-
-
0001306494
-
Familiaere infantile perniziosaartige Anaemie (pernizioeses Blutbild und Konstitution)
-
G. Fanconi Familiaere infantile perniziosaartige Anaemie (pernizioeses Blutbild und Konstitution) Jahrbuch Kinderheil 117 1927 257 280
-
(1927)
Jahrbuch Kinderheil
, vol.117
, pp. 257-280
-
-
Fanconi, G.1
-
3
-
-
0036775612
-
Bone marrow failure syndromes in children
-
B.P. Alter Bone marrow failure syndromes in children Pediatr. Clin. North Amer. 49 2002 973 988
-
(2002)
Pediatr. Clin. North Amer.
, vol.49
, pp. 973-988
-
-
Alter, B.P.1
-
4
-
-
0027861014
-
Fanconi anemia diagnosis and the diepoxybutane (DEB) test
-
A.D. Auerbach Fanconi anemia diagnosis and the diepoxybutane (DEB) test Exp. Hematol. 21 1993 731 733
-
(1993)
Exp. Hematol.
, vol.21
, pp. 731-733
-
-
Auerbach, A.D.1
-
5
-
-
0029861118
-
Fanconi anemia and malignancies
-
B.P. Alter Fanconi anemia and malignancies Am. J. Hematol. 53 1996 99 110
-
(1996)
Am. J. Hematol.
, vol.53
, pp. 99-110
-
-
Alter, B.P.1
-
6
-
-
12944315003
-
Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA matched unrelated donors: A study on behalf of the European Group for Blood and Bone Marrow Transplantation
-
P. Guardiola, R. Pasquini, and I. Dokal Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA matched unrelated donors: a study on behalf of the European Group for Blood and Bone Marrow Transplantation Blood 95 2000 422 429
-
(2000)
Blood
, vol.95
, pp. 422-429
-
-
Guardiola, P.1
Pasquini, R.2
Dokal, I.3
-
8
-
-
0028858123
-
Carrier frequency of the IVS4 +4 a to T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population
-
P.C. Verlander, A. Kaporis, and Q. Liu Carrier frequency of the IVS4 +4 A to T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population Blood 86 1995 4034 4038
-
(1995)
Blood
, vol.86
, pp. 4034-4038
-
-
Verlander, P.C.1
Kaporis, A.2
Liu, Q.3
-
10
-
-
16944362011
-
Evidence for at least eight Fanconi anemia genes
-
H. Joenje, A.B. Oostra, and M. Wijker Evidence for at least eight Fanconi anemia genes Am. J. Hum. Genet. 61 1997 940 944
-
(1997)
Am. J. Hum. Genet.
, vol.61
, pp. 940-944
-
-
Joenje, H.1
Oostra, A.B.2
Wijker, M.3
-
11
-
-
0037123768
-
Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways
-
T. Taniguchi, I. Garcia-Higuera, and B. Xu Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways Cell 109 2002 459 472
-
(2002)
Cell
, vol.109
, pp. 459-472
-
-
Taniguchi, T.1
Garcia-Higuera, I.2
Xu, B.3
-
12
-
-
0037178762
-
D-Day or BRCA2
-
E. Witt, and A. Ashworth D-Day or BRCA2 Science 297 2002 534
-
(2002)
Science
, vol.297
, pp. 534
-
-
Witt, E.1
Ashworth, A.2
-
13
-
-
8944258558
-
Germ cell defects and hematopoietic hypersensitivity to gamma interferon in mice with a targeted disruption Fanconi anemia C gene
-
M.A. Whitney, G. Royle, and M.J. Low Germ cell defects and hematopoietic hypersensitivity to gamma interferon in mice with a targeted disruption Fanconi anemia C gene Blood 88 1996 49 58
-
(1996)
Blood
, vol.88
, pp. 49-58
-
-
Whitney, M.A.1
Royle, G.2
Low, M.J.3
-
14
-
-
0142150968
-
Phenotype correction of Fanconi anemia group a hematopoietic cells using lentiviral vector
-
K. Yamada, and A. Ramazani Phenotype correction of Fanconi anemia group A hematopoietic cells using lentiviral vector Mol. Ther. 8 2003 600 610
-
(2003)
Mol. Ther.
, vol.8
, pp. 600-610
-
-
Yamada, K.1
Ramazani, A.2
-
15
-
-
0032796554
-
Spontaneous functional correction of homozygous Fanconi anemia alleles reveals novel mechanistic basis for reverse mosaicism
-
Q. Waisfisz, N.V. Morgan, and M. Savino Spontaneous functional correction of homozygous Fanconi anemia alleles reveals novel mechanistic basis for reverse mosaicism Nat. Genet. 22 1999 379 383
-
(1999)
Nat. Genet.
, vol.22
, pp. 379-383
-
-
Waisfisz, Q.1
Morgan, N.V.2
Savino, M.3
-
16
-
-
0037105463
-
In vitro phenotypic correction of hematopoietic progenitors from Fanconi anemia group-A knockout mice
-
P. Rio, J.C. Segovia, and H. Haneberg In vitro phenotypic correction of hematopoietic progenitors from Fanconi anemia group-A knockout mice Blood 100 2002 2032 2039
-
(2002)
Blood
, vol.100
, pp. 2032-2039
-
-
Rio, P.1
Segovia, J.C.2
Haneberg, H.3
-
17
-
-
0033588822
-
Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANC C)
-
J.M. Lin, and S. Kim Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANC C) Hum. Gene Ther. 10 1999 2337 2346
-
(1999)
Hum. Gene Ther.
, vol.10
, pp. 2337-2346
-
-
Lin, J.M.1
Kim, S.2
-
18
-
-
0037108187
-
Gene therapy of Fanconi anemia: Preclinical efficacy using lentiviral vectors
-
F. Galimi, M. Noll, and Y. Kanazawa Gene therapy of Fanconi anemia: preclinical efficacy using lentiviral vectors Blood 100 2002 2732 2736
-
(2002)
Blood
, vol.100
, pp. 2732-2736
-
-
Galimi, F.1
Noll, M.2
Kanazawa, Y.3
-
19
-
-
0001033529
-
Anaemia of infancy and early childhood
-
H.W. Josephs Anaemia of infancy and early childhood Medicine 15 1936 307 345
-
(1936)
Medicine
, vol.15
, pp. 307-345
-
-
Josephs, H.W.1
-
21
-
-
0035093173
-
Hematopoietic stem cell transplantation for Diamond Blackfan anemia: A report from the Diamond Blackfan Anemia Registry
-
A. Vlachos, N. Federman, and C. Reyes-Haley Hematopoietic stem cell transplantation for Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry Bone Marrow Transplant. 27 2001 381 386
-
(2001)
Bone Marrow Transplant.
, vol.27
, pp. 381-386
-
-
Vlachos, A.1
Federman, N.2
Reyes-Haley, C.3
-
22
-
-
0035129306
-
Osteogenic sarcoma associated with Diamond Blackfan anemia: A report from the Diamond Blackfan Anemia Registry
-
J.M. Lipton, N. Federman, and Y. Khabbaze Osteogenic sarcoma associated with Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry J. Pediatr. Hematol. Oncol. 23 2001 39 45
-
(2001)
J. Pediatr. Hematol. Oncol.
, vol.23
, pp. 39-45
-
-
Lipton, J.M.1
Federman, N.2
Khabbaze, Y.3
-
23
-
-
0030921672
-
Diamond-Blackfan anaemia in a girl with a de-novo balanced reciprocal (X;19) translocation
-
P. Gustavsson, G. Skeppner, and B. Johansson Diamond-Blackfan anaemia in a girl with a de-novo balanced reciprocal (X;19) translocation J. Med. Genet. 34 1997 779 782
-
(1997)
J. Med. Genet.
, vol.34
, pp. 779-782
-
-
Gustavsson, P.1
Skeppner, G.2
Johansson, B.3
-
24
-
-
0030814581
-
Diamond-Blackfan anaemia: Genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8Mb
-
P. Gustavsson, T.N. Willig, and A. Van Haeringen Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8Mb Nat. Genet. 16 1997 368 371
-
(1997)
Nat. Genet.
, vol.16
, pp. 368-371
-
-
Gustavsson, P.1
Willig, T.N.2
Van Haeringen, A.3
-
25
-
-
0032907438
-
The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anemia
-
N. Draptchinskaia, P. Gustavsson, and B. Andersson The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anemia Nat. Genet. 21 1999 169 175
-
(1999)
Nat. Genet.
, vol.21
, pp. 169-175
-
-
Draptchinskaia, N.1
Gustavsson, P.2
Andersson, B.3
-
26
-
-
0035976755
-
Fibroblast growth factor-2 interacts with free ribosomal protein S19
-
F. Soulet, T. Al Saati, and S. Roga Fibroblast growth factor-2 interacts with free ribosomal protein S19 Biochem. Biophys. Res. Commun. 289 2001 591 596
-
(2001)
Biochem. Biophys. Res. Commun.
, vol.289
, pp. 591-596
-
-
Soulet, F.1
Al Saati, T.2
Roga, S.3
-
27
-
-
0032748378
-
Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia
-
H. Matsson, J. Klar, and N. Draptchinskaia Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia Hum. Genet. 105 1999 496 500
-
(1999)
Hum. Genet.
, vol.105
, pp. 496-500
-
-
Matsson, H.1
Klar, J.2
Draptchinskaia, N.3
-
28
-
-
13044266374
-
Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: Wide variations in phenotypic expression
-
T.N. Willig, N. Draptchinskaia, and I. Dianzani Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: wide variations in phenotypic expression Blood 94 1999 4294 4306
-
(1999)
Blood
, vol.94
, pp. 4294-4306
-
-
Willig, T.N.1
Draptchinskaia, N.2
Dianzani, I.3
-
29
-
-
1942486326
-
Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation
-
H. Matsson, E.J. Davey, and N. Draptchinskaia Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation Mol. Cell. Biol. 24 2004 4032 4037
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 4032-4037
-
-
Matsson, H.1
Davey, E.J.2
Draptchinskaia, N.3
-
30
-
-
0038383284
-
Nucleolar localization of RPS 19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: Potential insights into pathophysiology
-
L. Da Costa, G. Tchernia, and P. Gascard Nucleolar localization of RPS 19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology Blood 101 2003 5039 5045
-
(2003)
Blood
, vol.101
, pp. 5039-5045
-
-
Da Costa, L.1
Tchernia, G.2
Gascard, P.3
-
31
-
-
0037222691
-
Ribosomal protein S19 expression during erythroid differentiation
-
L. Da Costa, G. Narla, and T.N. Willig Ribosomal protein S19 expression during erythroid differentiation Blood 101 2003 318 324
-
(2003)
Blood
, vol.101
, pp. 318-324
-
-
Da Costa, L.1
Narla, G.2
Willig, T.N.3
-
32
-
-
26244444485
-
+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia
-
+ cells generated by siRNA blocks erythroid development and mimics defects seen in Diamond-Blackfan anemia Blood 2004 (Epub ahead of print)
-
(2004)
Blood
-
-
Flygare, J.1
Kiefer, T.2
Miyake, K.3
-
33
-
-
0035313157
-
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.2-23.1 and non-19q non-8p familial disease
-
H. Gazda, J.M. Lipton, and T.N. Willig Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.2-23.1 and non-19q non-8p familial disease Blood 97 2001 2145 2150
-
(2001)
Blood
, vol.97
, pp. 2145-2150
-
-
Gazda, H.1
Lipton, J.M.2
Willig, T.N.3
-
34
-
-
0034014386
-
A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome
-
D. Tentler, P. Gustavsson, G. Elinder, O. Eklof, L. Gordon, and A. Mandel A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome J. Med. Genet. 37 2000 128 131
-
(2000)
J. Med. Genet.
, vol.37
, pp. 128-131
-
-
Tentler, D.1
Gustavsson, P.2
Elinder, G.3
Eklof, O.4
Gordon, L.5
Mandel, A.6
-
35
-
-
0037108191
-
Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia
-
I. Hamaguchi, A. Ooka, and A. Brun Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia Blood 100 2002 2724 2731
-
(2002)
Blood
, vol.100
, pp. 2724-2731
-
-
Hamaguchi, I.1
Ooka, A.2
Brun, A.3
-
36
-
-
0038190929
-
Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient Diamond-Blackfan anemia improves following RPS19 gene transfer
-
I. Hamaguchi, J. Flygare, and H. Nishiura Proliferation deficiency of multipotent hematopoietic progenitors in ribosomal protein S19 (RPS19)-deficient Diamond-Blackfan anemia improves following RPS19 gene transfer Mol. Ther. 7 2003 613 622
-
(2003)
Mol. Ther.
, vol.7
, pp. 613-622
-
-
Hamaguchi, I.1
Flygare, J.2
Nishiura, H.3
-
37
-
-
0000785397
-
The syndrome of pancreatic insufficiency and bone marrow dysfunction
-
H. Shwachman, L.K. Diamond, and F.A. Oski The syndrome of pancreatic insufficiency and bone marrow dysfunction J. Pediatr. 65 1964 645 663
-
(1964)
J. Pediatr.
, vol.65
, pp. 645-663
-
-
Shwachman, H.1
Diamond, L.K.2
Oski, F.A.3
-
38
-
-
0000951515
-
Congenital hypoplasia of the exocrine pancreas
-
M. Bodian, W. Sheldon, and R. Lightwood Congenital hypoplasia of the exocrine pancreas Acta Pediatr. 53 1964 282 293
-
(1964)
Acta Pediatr.
, vol.53
, pp. 282-293
-
-
Bodian, M.1
Sheldon, W.2
Lightwood, R.3
-
39
-
-
0033497428
-
Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
-
H. Ginzberg, J. Shin, and L. Ellis Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar J. Pediatr. 135 1999 81 88
-
(1999)
J. Pediatr.
, vol.135
, pp. 81-88
-
-
Ginzberg, H.1
Shin, J.2
Ellis, L.3
-
40
-
-
1242273630
-
Skeletal phenotypes in patients with Shwachman-Diamond syndrome and mutations in SBDS
-
O. Makitie, L. Ellis, and P.R. Durie Skeletal phenotypes in patients with Shwachman-Diamond syndrome and mutations in SBDS Clin. Genet. 65 2004 101 112
-
(2004)
Clin. Genet.
, vol.65
, pp. 101-112
-
-
Makitie, O.1
Ellis, L.2
Durie, P.R.3
-
42
-
-
85047697639
-
Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome
-
J. Flietz, S. Rumelhart, and F. Goldman Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman-Diamond syndrome Bone Marrow Transplant. 29 2002 75 79
-
(2002)
Bone Marrow Transplant.
, vol.29
, pp. 75-79
-
-
Flietz, J.1
Rumelhart, S.2
Goldman, F.3
-
43
-
-
0030729911
-
Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome
-
I. Dokai, S. Rule, and F. Chen Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome Br. J. Haematol. 99 1997 171 173
-
(1997)
Br. J. Haematol.
, vol.99
, pp. 171-173
-
-
Dokai, I.1
Rule, S.2
Chen, F.3
-
44
-
-
0029929155
-
Haematological abnormalities in Shwachman-Diamond syndrome
-
O. Smith, I.M. Hann, and J.M. Chessels Haematological abnormalities in Shwachman-Diamond syndrome Br. J. Haematol. 94 1996 279 284
-
(1996)
Br. J. Haematol.
, vol.94
, pp. 279-284
-
-
Smith, O.1
Hann, I.M.2
Chessels, J.M.3
-
45
-
-
0033230361
-
Shwachman-Diamond syndrome: An inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty microenvironment
-
Y. Dror, and M.H. Freedman Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty microenvironment Blood 94 1999 3048 3054
-
(1999)
Blood
, vol.94
, pp. 3048-3054
-
-
Dror, Y.1
Freedman, M.H.2
-
46
-
-
0035874541
-
Shwachman-Diamond syndrome marrow cells show increased apoptosis mediated through the Fas pathway
-
Y. Dror, and M.H. Freedman Shwachman-Diamond syndrome marrow cells show increased apoptosis mediated through the Fas pathway Blood 97 2001 3011 3016
-
(2001)
Blood
, vol.97
, pp. 3011-3016
-
-
Dror, Y.1
Freedman, M.H.2
-
47
-
-
0036229263
-
Telomere shortening in leukocytes of children with Shwachman-Diamond syndrome
-
I. Thornley, Y. Dror, and L. Sung Telomere shortening in leukocytes of children with Shwachman-Diamond syndrome Br. J. Haematol. 117 2002 189 192
-
(2002)
Br. J. Haematol.
, vol.117
, pp. 189-192
-
-
Thornley, I.1
Dror, Y.2
Sung, L.3
-
48
-
-
0031702803
-
Malignant myeloid transformation with isochrome 7 (q) in Shwachman-Diamond syndrome
-
Y. Dror, J. Squire, and P. Durie Malignant myeloid transformation with isochrome 7 (q) in Shwachman-Diamond syndrome Leukaemia 12 1998 1591 1595
-
(1998)
Leukaemia
, vol.12
, pp. 1591-1595
-
-
Dror, Y.1
Squire, J.2
Durie, P.3
-
49
-
-
0035071609
-
Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7
-
S. Goobie, M. Popovic, and J.A. Morrison Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7 Am. J. Hum. Genet. 68 2001 1048 1054
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 1048-1054
-
-
Goobie, S.1
Popovic, M.2
Morrison, J.A.3
-
50
-
-
0037229094
-
Mutations in SBDS are associated with Shwachman-Diamond syndrome
-
G. Boocock, J.A. Morrison, and M. Popovic Mutations in SBDS are associated with Shwachman-Diamond syndrome Nat. Genet. 33 2003 97 101
-
(2003)
Nat. Genet.
, vol.33
, pp. 97-101
-
-
Boocock, G.1
Morrison, J.A.2
Popovic, M.3
-
51
-
-
0034322389
-
CGC-CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis
-
J.M. Chen, O. Raguenes, and C. Ferec CGC-CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis J. Med. Genet. 37 2000 E36
-
(2000)
J. Med. Genet.
, vol.37
, pp. 36
-
-
Chen, J.M.1
Raguenes, O.2
Ferec, C.3
-
52
-
-
0031788063
-
Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II
-
S. Bunge Homologous nonallelic recombinations between the iduronate-sulfatase gene and pseudogene cause various intragenic deletions and inversions in patients with mucopolysaccharidosis type II Eur. J. Hum. Genet. 6 1998 492 500
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 492-500
-
-
Bunge, S.1
-
53
-
-
0034653483
-
Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease
-
J. Roesler Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease Blood 15 2000 2150 2156
-
(2000)
Blood
, vol.15
, pp. 2150-2156
-
-
Roesler, J.1
-
54
-
-
9444291841
-
Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
-
J.R. Woloszynek, R.J. Rothbaum, and A.S. Rawls Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome Blood 104 2004 3588 3590
-
(2004)
Blood
, vol.104
, pp. 3588-3590
-
-
Woloszynek, J.R.1
Rothbaum, R.J.2
Rawls, A.S.3
-
55
-
-
21444446063
-
The Schwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism
-
A. Savchenko, N. Krogan, and J.R. Cort The Schwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism J. Biol. Chem. 280 2005 19213 19220
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 19213-19220
-
-
Savchenko, A.1
Krogan, N.2
Cort, J.R.3
-
56
-
-
0011416218
-
CAMT: New findings and new questions
-
K. Kaushansky CAMT: new findings and new questions Blood 97 2001 1 2
-
(2001)
Blood
, vol.97
, pp. 1-2
-
-
Kaushansky, K.1
-
57
-
-
0032837601
-
Serum levels of thrombopoietin, IL-11 and IL-6 in pediatric thrombocytopenias
-
M. Cremer, H. Schulze, and G. Linthorst Serum levels of thrombopoietin, IL-11 and IL-6 in pediatric thrombocytopenias Ann. Hematol. 78 1999 401 407
-
(1999)
Ann. Hematol.
, vol.78
, pp. 401-407
-
-
Cremer, M.1
Schulze, H.2
Linthorst, G.3
-
58
-
-
0033867088
-
Hematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia
-
A. Lackner, O. Basu, and M. Bierings Hematopoietic stem cell transplantation for amegakaryocytic thrombocytopenia Br. J. Haematol. 109 2000 773 775
-
(2000)
Br. J. Haematol.
, vol.109
, pp. 773-775
-
-
Lackner, A.1
Basu, O.2
Bierings, M.3
-
59
-
-
1942538288
-
Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT)
-
A. Al-Ahmari, M. Ayas, and A. Al-Jefri Allogeneic stem cell transplantation for patients with congenital amegakaryocytic thrombocytopenia (CAT) Bone Marrow Transplant. 33 2004 829 831
-
(2004)
Bone Marrow Transplant.
, vol.33
, pp. 829-831
-
-
Al-Ahmari, A.1
Ayas, M.2
Al-Jefri, A.3
-
60
-
-
0027530150
-
Cytokine treatment of inherited bone marrow failure syndromes
-
A.P. Gillio, and J.L. Gabrilove Cytokine treatment of inherited bone marrow failure syndromes Blood 81 1993 1669 1674
-
(1993)
Blood
, vol.81
, pp. 1669-1674
-
-
Gillio, A.P.1
Gabrilove, J.L.2
-
61
-
-
0027470022
-
Effects of interleukin 3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia
-
E.C. Guinan, Y.S. Lee, and K.D. Lopez Effects of interleukin 3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia Blood 81 1993 1691 1698
-
(1993)
Blood
, vol.81
, pp. 1691-1698
-
-
Guinan, E.C.1
Lee, Y.S.2
Lopez, K.D.3
-
62
-
-
0033019932
-
Identification of mutations in the c-mpl gene in amegakaryocytic thrombocytopenia
-
K. Ihara, E. Ishii, and M. Eguchi Identification of mutations in the c-mpl gene in amegakaryocytic thrombocytopenia Proc. Natl. Acad. Sci. USA 96 1999 3132 3136
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 3132-3136
-
-
Ihara, K.1
Ishii, E.2
Eguchi, M.3
-
63
-
-
0033845012
-
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia
-
S. van den Oudenrijn, M. Bruin, and C.C. Folman Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia Br. J. Haematol. 110 2000 441 448
-
(2000)
Br. J. Haematol.
, vol.110
, pp. 441-448
-
-
Van Den Oudenrijn, S.1
Bruin, M.2
Folman, C.C.3
-
64
-
-
0033781085
-
Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT)
-
R. Tonelli, A.L. Scardovi, and A. Pession Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT) Hum. Genet. 107 2000 225 233
-
(2000)
Hum. Genet.
, vol.107
, pp. 225-233
-
-
Tonelli, R.1
Scardovi, A.L.2
Pession, A.3
-
65
-
-
0035174334
-
C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia
-
M. Ballmaier, M. Germeshausen, and H. Schulze C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia Blood 97 2001 139 146
-
(2001)
Blood
, vol.97
, pp. 139-146
-
-
Ballmaier, M.1
Germeshausen, M.2
Schulze, H.3
-
66
-
-
0029960265
-
Deficiencies in progenitor cells of multiple hematpoietic lineages and defective megakaryopoiesis in mice lacking the thrombopoietic receptor c-Mpl
-
W.S. Alexander, A.W. Roberts, and N.A. Nicola Deficiencies in progenitor cells of multiple hematpoietic lineages and defective megakaryopoiesis in mice lacking the thrombopoietic receptor c-Mpl Blood 87 1996 2162 2170
-
(1996)
Blood
, vol.87
, pp. 2162-2170
-
-
Alexander, W.S.1
Roberts, A.W.2
Nicola, N.A.3
-
67
-
-
0032126638
-
Role of c-mpl in early hematopoiesis
-
G.P. Solar, W.G. Kerr, and F.C. Ziegler Role of c-mpl in early hematopoiesis Blood 92 1998 4 10
-
(1998)
Blood
, vol.92
, pp. 4-10
-
-
Solar, G.P.1
Kerr, W.G.2
Ziegler, F.C.3
-
68
-
-
0032477741
-
Hematopoietic stem cell deficiencies in mice lacking c-Mpl, the receptor for thrombopoietin
-
S. Kimura, A.W. Roberts, and D. Metcalf Hematopoietic stem cell deficiencies in mice lacking c-Mpl, the receptor for thrombopoietin Proc. Natl. Acad. Sci. USA 95 1998 1195 1200
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 1195-1200
-
-
Kimura, S.1
Roberts, A.W.2
Metcalf, D.3
-
69
-
-
0032870567
-
Ectopic overexpression of c-mpl by retroviral-mediated gene transfer suppressed megakaryopoiesis but enhanced erythropoiesis in mice
-
X.Q. Yan, D.L. Lacey, and C. Saris Ectopic overexpression of c-mpl by retroviral-mediated gene transfer suppressed megakaryopoiesis but enhanced erythropoiesis in mice Exp. Hematol. 27 1999 1409 1417
-
(1999)
Exp. Hematol.
, vol.27
, pp. 1409-1417
-
-
Yan, X.Q.1
Lacey, D.L.2
Saris, C.3
-
70
-
-
0033754823
-
Dyskeratosis congenita in all its forms
-
I. Dokai Dyskeratosis congenita in all its forms Br. J. Haematol. 110 2000 768 779
-
(2000)
Br. J. Haematol.
, vol.110
, pp. 768-779
-
-
Dokai, I.1
-
71
-
-
0032424906
-
Dyskeratosis congenita (DC) registry: Identification of new features of DC
-
S. Knight, T. Vuillamy, and A. Copplestone Dyskeratosis congenita (DC) registry: identification of new features of DC Br. J. Haematol. 103 1998 990 996
-
(1998)
Br. J. Haematol.
, vol.103
, pp. 990-996
-
-
Knight, S.1
Vuillamy, T.2
Copplestone, A.3
-
72
-
-
26244466023
-
Bone marrow transplant for dyskeratosis congenita
-
Y.L. Lau, S.Y. Ha, and C.F. Chan Bone marrow transplant for dyskeratosis congenita Br. J. Haematol. 23 1999 299 301
-
(1999)
Br. J. Haematol.
, vol.23
, pp. 299-301
-
-
Lau, Y.L.1
Ha, S.Y.2
Chan, C.F.3
-
73
-
-
0022477628
-
Assignment of the gene for dyskeratosis congenita to Xq28
-
J.M. Connor, D. Gatherer, and F.C. Gray Assignment of the gene for dyskeratosis congenita to Xq28 Hum. Genet. 72 1986 348 351
-
(1986)
Hum. Genet.
, vol.72
, pp. 348-351
-
-
Connor, J.M.1
Gatherer, D.2
Gray, F.C.3
-
74
-
-
0035960043
-
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
-
T. Vulliamy, A. Marrone, and F. Goldman The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita Nature 413 2001 432 435
-
(2001)
Nature
, vol.413
, pp. 432-435
-
-
Vulliamy, T.1
Marrone, A.2
Goldman, F.3
-
75
-
-
0032705706
-
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
-
S.W. Knight, N.S. Heiss, and T.J. Vuillamy Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 Br. J. Haematol. 107 1999 335 339
-
(1999)
Br. J. Haematol.
, vol.107
, pp. 335-339
-
-
Knight, S.W.1
Heiss, N.S.2
Vuillamy, T.J.3
-
76
-
-
0030963268
-
Function and synthesis of small nucleolar RNAs
-
D. Tollervey, and T. Kiss Function and synthesis of small nucleolar RNAs Curr. Opin. Cell Biol. 9 1997 337 342
-
(1997)
Curr. Opin. Cell Biol.
, vol.9
, pp. 337-342
-
-
Tollervey, D.1
Kiss, T.2
-
77
-
-
0033518188
-
A telomerase component is defective in the human disease dyskeratosis congenita
-
J.R. Mitchell, E. Wood, and K. Collins A telomerase component is defective in the human disease dyskeratosis congenita Nature 402 1999 551 555
-
(1999)
Nature
, vol.402
, pp. 551-555
-
-
Mitchell, J.R.1
Wood, E.2
Collins, K.3
-
78
-
-
0141763835
-
Telomere maintenance and disease
-
J.M. Wong, and K. Collins Telomere maintenance and disease Lancet 362 2003 983 988
-
(2003)
Lancet
, vol.362
, pp. 983-988
-
-
Wong, J.M.1
Collins, K.2
-
79
-
-
0037148271
-
Telomerase in the human organism
-
K. Collins, and J.R. Mitchell Telomerase in the human organism Oncogene 21 2002 564 579
-
(2002)
Oncogene
, vol.21
, pp. 564-579
-
-
Collins, K.1
Mitchell, J.R.2
-
80
-
-
0034966374
-
Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
-
T.J. Vulliamy, S.W. Knight, and P.J. Mason Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita Blood Cells 27 2001 353 357
-
(2001)
Blood Cells
, vol.27
, pp. 353-357
-
-
Vulliamy, T.J.1
Knight, S.W.2
Mason, P.J.3
-
82
-
-
5044251217
-
Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita
-
J.M. Wong, M.J. Kyasa, and L. Hutchins Telomerase RNA deficiency in peripheral blood mononuclear cells in X-linked dyskeratosis congenita Hum. Genet. 115 2004 448 455
-
(2004)
Hum. Genet.
, vol.115
, pp. 448-455
-
-
Wong, J.M.1
Kyasa, M.J.2
Hutchins, L.3
-
83
-
-
25444519237
-
Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakle active telomerase enzyme defective in telomere elongation
-
M.A. Cerrone, R.J. Ward, and J.A. Londono-Vallejo Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakle active telomerase enzyme defective in telomere elongation Cell Cycle 4 2005 (Epublication ahead of print)
-
(2005)
Cell Cycle
, vol.4
-
-
Cerrone, M.A.1
Ward, R.J.2
Londono-Vallejo, J.A.3
-
84
-
-
0037206947
-
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice
-
J. He, S. Navarrete, and M. Jasinski Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice Oncogene 21 2002 7740 7744
-
(2002)
Oncogene
, vol.21
, pp. 7740-7744
-
-
He, J.1
Navarrete, S.2
Jasinski, M.3
-
85
-
-
0030931491
-
Telomere shortening and tumor formation by mouse cells lacking telomerase RNA
-
M.A. Blasco, H. Lee, and M.P. Hande Telomere shortening and tumor formation by mouse cells lacking telomerase RNA Cell 91 1997 25 34
-
(1997)
Cell
, vol.91
, pp. 25-34
-
-
Blasco, M.A.1
Lee, H.2
Hande, M.P.3
-
86
-
-
0036200639
-
Immunosenescence phenotypes in the telomerase knockout mouse
-
M.A. Blasco Immunosenescence phenotypes in the telomerase knockout mouse Springer Semin. Immunopathol. 24 2002 75 85
-
(2002)
Springer Semin. Immunopathol.
, vol.24
, pp. 75-85
-
-
Blasco, M.A.1
-
87
-
-
2442617343
-
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
-
T. Vulliamy, A. Marrone, and R. Szydlo Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC Nat. Genet. 36 2004 447 449
-
(2004)
Nat. Genet.
, vol.36
, pp. 447-449
-
-
Vulliamy, T.1
Marrone, A.2
Szydlo, R.3
-
88
-
-
0034667771
-
+ T cell clones by ectopic expression of telomerase reverse transcriptase
-
+ T cell clones by ectopic expression of telomerase reverse transcriptase J. Immunol. 165 2000 4239 4245
-
(2000)
J. Immunol.
, vol.165
, pp. 4239-4245
-
-
Hoijberg, E.1
Ruizendaal, J.J.2
Snijders, P.J.3
-
89
-
-
0035437179
-
Transfer of the human telomerase reverse transcriptase (TERT) gene into T lymphocytes results in extension of replicative potential
-
N. Rufer, M. Migliaccio, and J. Antonchuk Transfer of the human telomerase reverse transcriptase (TERT) gene into T lymphocytes results in extension of replicative potential Blood 98 2001 597 603
-
(2001)
Blood
, vol.98
, pp. 597-603
-
-
Rufer, N.1
Migliaccio, M.2
Antonchuk, J.3
-
90
-
-
77049235105
-
Infantile genetic agranulocytosis. a new recessive lethal disease in man
-
R. Kostmann Infantile genetic agranulocytosis. A new recessive lethal disease in man Acta Paediatr. Scand. 45 1956 1 78
-
(1956)
Acta Paediatr. Scand.
, vol.45
, pp. 1-78
-
-
Kostmann, R.1
-
91
-
-
0036216657
-
Kostmann syndrome and severe congenital neutropenia
-
C. Ziedler, and K. Welte Kostmann syndrome and severe congenital neutropenia Semin. Hematol. 39 2002 82 88
-
(2002)
Semin. Hematol.
, vol.39
, pp. 82-88
-
-
Ziedler, C.1
Welte, K.2
-
92
-
-
0011982978
-
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy
-
M.H. Freedman, M.A. Bonilla, and C. Fier Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy Blood 96 2000 429 436
-
(2000)
Blood
, vol.96
, pp. 429-436
-
-
Freedman, M.H.1
Bonilla, M.A.2
Fier, C.3
-
93
-
-
12244255076
-
Severe chronic neutropenia: Treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry
-
D.C. Dale, T.E. Cottle, and C.J. Fier Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry Am. J. Hematol. 72 2003 82 93
-
(2003)
Am. J. Hematol.
, vol.72
, pp. 82-93
-
-
Dale, D.C.1
Cottle, T.E.2
Fier, C.J.3
-
94
-
-
0030815976
-
Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia
-
M.H. Freedman Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia Curr. Opin. Hematol. 4 1997 217
-
(1997)
Curr. Opin. Hematol.
, vol.4
, pp. 217
-
-
Freedman, M.H.1
-
95
-
-
0034651925
-
Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation
-
C. Ziedler, K. Welte, and F. Barak Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation Blood 95 2000 1195 1198
-
(2000)
Blood
, vol.95
, pp. 1195-1198
-
-
Ziedler, C.1
Welte, K.2
Barak, F.3
-
96
-
-
15544363068
-
Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation
-
S.W. Choi, L.A. Boxer, and M.A. Pulsipher Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation Bone Marrow Transplant. 35 2005 473 477
-
(2005)
Bone Marrow Transplant.
, vol.35
, pp. 473-477
-
-
Choi, S.W.1
Boxer, L.A.2
Pulsipher, M.A.3
-
97
-
-
0029792176
-
Dominantly inherited severe congenital neutropenia
-
G.L. Briars, H.F. Parry, and B.M. Ansari Dominantly inherited severe congenital neutropenia J. Infect. 33 1996 123 126
-
(1996)
J. Infect.
, vol.33
, pp. 123-126
-
-
Briars, G.L.1
Parry, H.F.2
Ansari, B.M.3
-
98
-
-
0029129034
-
Mutations in the gene for the granulocyte colony-stimulating factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia
-
F. Dong, R.K. Brynes, and N. Tidow 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. 333 1995 487 493
-
(1995)
N. Engl. J. Med.
, vol.333
, pp. 487-493
-
-
Dong, F.1
Brynes, R.K.2
Tidow, N.3
-
99
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
D.C. Dale, R.E. Pearson, and A.A. Bolyard Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia Blood 96 2000 2317 2322
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Pearson, R.E.2
Bolyard, A.A.3
-
100
-
-
2542434031
-
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: A study of 81 patients from the French Neutropenia Register
-
C. Bellanne-Chantelot, S. Clauin, and T. Leblanc Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register Blood 103 2004 4119 4125
-
(2004)
Blood
, vol.103
, pp. 4119-4125
-
-
Bellanne-Chantelot, C.1
Clauin, S.2
Leblanc, T.3
-
102
-
-
0031836105
-
Mice lacking neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis
-
A. Belaaouaj, R. McCarthy, and M. Baumabb Mice lacking neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis Nat. Med. 4 1998 615 618
-
(1998)
Nat. Med.
, vol.4
, pp. 615-618
-
-
Belaaouaj, A.1
McCarthy, R.2
Baumabb, M.3
-
103
-
-
0036839563
-
Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis
-
D.S. Grenda, S.E. Johnson, and J.R. Mayer Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis Blood 100 2002 3221 3228
-
(2002)
Blood
, vol.100
, pp. 3221-3228
-
-
Grenda, D.S.1
Johnson, S.E.2
Mayer, J.R.3
-
104
-
-
18244377662
-
Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes
-
P. Massullo, L.J. Druhan, and B.A. Bunnell Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes Blood 105 2005 3397 3404
-
(2005)
Blood
, vol.105
, pp. 3397-3404
-
-
Massullo, P.1
Druhan, L.J.2
Bunnell, B.A.3
|