-
2
-
-
77049088459
-
Ocular and orbital manifestations of the inherited bone marrow failure syndromes: fanconi anemia and dyskeratosis congenita
-
Tsilou E.T., Giri N., Weinstein S., Mueller C., Savage S.A., Alter B.P. Ocular and orbital manifestations of the inherited bone marrow failure syndromes: fanconi anemia and dyskeratosis congenita. Ophthalmology 2010, 117(3):615-622.
-
(2010)
Ophthalmology
, vol.117
, Issue.3
, pp. 615-622
-
-
Tsilou, E.T.1
Giri, N.2
Weinstein, S.3
Mueller, C.4
Savage, S.A.5
Alter, B.P.6
-
3
-
-
77952668707
-
-
An unusual case of Fanconi Anemia with adult onset, mosaicism in an asymptomatic sibling, and a possible molecular explanation. Presented at the 59th Annual Meeting of the American Society of Human Genetics, October 24th, 2009, Honolulu, Hawaii
-
Johnson MA, Olson S, Alter BP, Giri N, Hogan WJ, Richards CS. An unusual case of Fanconi Anemia with adult onset, mosaicism in an asymptomatic sibling, and a possible molecular explanation. Presented at the 59th Annual Meeting of the American Society of Human Genetics, October 24th, 2009, Honolulu, Hawaii.
-
-
-
Johnson, M.A.1
Olson, S.2
Alter, B.P.3
Giri, N.4
Hogan, W.J.5
Richards, C.S.6
-
4
-
-
0019365249
-
Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method
-
Auerbach A.D., Adler B., Chaganti R.S. Prenatal and postnatal diagnosis and carrier detection of Fanconi anemia by a cytogenetic method. Pediatrics 1981, 67:128-135.
-
(1981)
Pediatrics
, vol.67
, pp. 128-135
-
-
Auerbach, A.D.1
Adler, B.2
Chaganti, R.S.3
-
5
-
-
38149088139
-
Genetic subtyping of Fanconi anemia by comprehensive mutation screening
-
Ameziane N., Errami A., Leveille F., Fontaine C., de Vries Y., van Spaendonk R.M., et al. Genetic subtyping of Fanconi anemia by comprehensive mutation screening. Hum Mutat 2008, 29:159-166.
-
(2008)
Hum Mutat
, vol.29
, pp. 159-166
-
-
Ameziane, N.1
Errami, A.2
Leveille, F.3
Fontaine, C.4
de Vries, Y.5
van Spaendonk, R.M.6
-
6
-
-
23044466578
-
Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism
-
Alter B.P., Joenje H., Oostra A.B., Pals G. Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism. Arch Otolaryngol Head Neck Surg 2005, 131:635-639.
-
(2005)
Arch Otolaryngol Head Neck Surg
, vol.131
, pp. 635-639
-
-
Alter, B.P.1
Joenje, H.2
Oostra, A.B.3
Pals, G.4
-
7
-
-
3142631738
-
Individualized risks of first adverse events in patients with Fanconi anemia
-
Rosenberg P.S., Huang Y., Alter B.P. Individualized risks of first adverse events in patients with Fanconi anemia. Blood 2004, 104:350-355.
-
(2004)
Blood
, vol.104
, pp. 350-355
-
-
Rosenberg, P.S.1
Huang, Y.2
Alter, B.P.3
-
8
-
-
11144235579
-
Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants
-
Rosenberg P.S., Socie G., Alter B.P., Gluckman E. Risk of head and neck squamous cell cancer and death in patients with Fanconi anemia who did and did not receive transplants. Blood 2005, 105:67-73.
-
(2005)
Blood
, vol.105
, pp. 67-73
-
-
Rosenberg, P.S.1
Socie, G.2
Alter, B.P.3
Gluckman, E.4
-
9
-
-
33846415079
-
Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2
-
Alter B.P., Rosenberg P.S., Brody L.C. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet 2007, 44:1-9.
-
(2007)
J Med Genet
, vol.44
, pp. 1-9
-
-
Alter, B.P.1
Rosenberg, P.S.2
Brody, L.C.3
-
10
-
-
0025881472
-
Fanconi's anemia and pregnancy
-
Alter B., Frissora C., et al. Fanconi's anemia and pregnancy. Br J Haematol 1991, 77:410-418.
-
(1991)
Br J Haematol
, vol.77
, pp. 410-418
-
-
Alter, B.1
Frissora, C.2
-
11
-
-
34548759123
-
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins
-
Wang W. Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. Nat Rev Genet 2007, 8:735-748.
-
(2007)
Nat Rev Genet
, vol.8
, pp. 735-748
-
-
Wang, W.1
-
12
-
-
67650500593
-
The genetic and molecular basis of Fanconi anemia
-
de Winter J.P., Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res 2009, 668:11-19.
-
(2009)
Mutat Res
, vol.668
, pp. 11-19
-
-
de Winter, J.P.1
Joenje, H.2
-
14
-
-
72149119542
-
How the fanconi anemia pathway guards the genome
-
Moldovan G.L., D'Andrea A.D. How the fanconi anemia pathway guards the genome. Annu Rev Genet 2009, 43:223-249.
-
(2009)
Annu Rev Genet
, vol.43
, pp. 223-249
-
-
Moldovan, G.L.1
D'Andrea, A.D.2
-
15
-
-
4043133287
-
ATR couples FANCD2 monoubiquitination to the DNA-damage response
-
Andreassen P.R., D'Andrea A.D., Taniguchi T. ATR couples FANCD2 monoubiquitination to the DNA-damage response. Genes Dev 2004, 18:1958-1963.
-
(2004)
Genes Dev
, vol.18
, pp. 1958-1963
-
-
Andreassen, P.R.1
D'Andrea, A.D.2
Taniguchi, T.3
-
16
-
-
0037123768
-
Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways
-
Taniguchi T., Garcia-Higuera I., Xu B., Andreassen P.R., Gregory R.C., Kim S.T., et al. Convergence of the Fanconi anemia and ataxia telangiectasia signaling pathways. Cell 2002, 109:459-472.
-
(2002)
Cell
, vol.109
, pp. 459-472
-
-
Taniguchi, T.1
Garcia-Higuera, I.2
Xu, B.3
Andreassen, P.R.4
Gregory, R.C.5
Kim, S.T.6
-
17
-
-
4544280871
-
Interaction of FANCD2 and NBS1 in the DNA damage response
-
Nakanishi K., Taniguchi T., Ranganathan V., New H.V., Moreau L.A., Stotsky M., et al. Interaction of FANCD2 and NBS1 in the DNA damage response. Nat Cell Biol 2002, 4:913-920.
-
(2002)
Nat Cell Biol
, vol.4
, pp. 913-920
-
-
Nakanishi, K.1
Taniguchi, T.2
Ranganathan, V.3
New, H.V.4
Moreau, L.A.5
Stotsky, M.6
-
18
-
-
0038642027
-
A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome
-
Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., et al. A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. Mol Cell Biol 2003, 23:3417-3426.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 3417-3426
-
-
Meetei, A.R.1
Sechi, S.2
Wallisch, M.3
Yang, D.4
Young, M.K.5
Joenje, H.6
-
19
-
-
4143141093
-
BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks
-
Pichierri P., Franchitto A., Rosselli F. BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks. EMBO J 2004, 23:3154-3163.
-
(2004)
EMBO J
, vol.23
, pp. 3154-3163
-
-
Pichierri, P.1
Franchitto, A.2
Rosselli, F.3
-
20
-
-
0035657297
-
The Fanconi anemia group C gene product: signaling functions in hematopoietic cells
-
Fagerlie S., Lensch M.W., Pang Q., Bagby G.C. The Fanconi anemia group C gene product: signaling functions in hematopoietic cells. Exp Hematol 2001, 29:1371-1381.
-
(2001)
Exp Hematol
, vol.29
, pp. 1371-1381
-
-
Fagerlie, S.1
Lensch, M.W.2
Pang, Q.3
Bagby, G.C.4
-
22
-
-
0038603848
-
Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor
-
Tonnies H., Huber S., Kuhl J.S., Gerlach A., Ebell W., Neitzel H. Clonal chromosomal aberrations in bone marrow cells of Fanconi anemia patients: gains of the chromosomal segment 3q26q29 as an adverse risk factor. Blood 2003, 101:3872-3874.
-
(2003)
Blood
, vol.101
, pp. 3872-3874
-
-
Tonnies, H.1
Huber, S.2
Kuhl, J.S.3
Gerlach, A.4
Ebell, W.5
Neitzel, H.6
-
23
-
-
77952669693
-
Treatment of hematologic abnormalities in Fanconi anemia
-
Fanconi Anemia Research Fund, Eugene, M.E. Eiler, D. Frohnmayer, L. Frohnmayer, K. Larsen, J. Owen (Eds.)
-
Shimamura A. Treatment of hematologic abnormalities in Fanconi anemia. Fanconi anemia guidelines for diagnosis and management 2008, 49-75. Fanconi Anemia Research Fund, Eugene. 3rd Edition. M.E. Eiler, D. Frohnmayer, L. Frohnmayer, K. Larsen, J. Owen (Eds.).
-
(2008)
Fanconi anemia guidelines for diagnosis and management
, pp. 49-75
-
-
Shimamura, A.1
-
24
-
-
0018929949
-
Bone marrow transplantation in Fanconi anaemia
-
Gluckman E., Devergie A., Schaison G., Bussel A., Berger R., Sohier J., et al. Bone marrow transplantation in Fanconi anaemia. Br J Haematol 1980, 45:557-564.
-
(1980)
Br J Haematol
, vol.45
, pp. 557-564
-
-
Gluckman, E.1
Devergie, A.2
Schaison, G.3
Bussel, A.4
Berger, R.5
Sohier, J.6
-
25
-
-
38849178108
-
Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome
-
Gluckman E., Wagner J.E. Hematopoietic stem cell transplantation in childhood inherited bone marrow failure syndrome. Bone Marrow Transplant 2008, 41:127-132.
-
(2008)
Bone Marrow Transplant
, vol.41
, pp. 127-132
-
-
Gluckman, E.1
Wagner, J.E.2
-
26
-
-
59349117687
-
Hematopoietic stem cell transplantation for bone marrow failure syndromes in children
-
Myers K.C., Davies S.M. Hematopoietic stem cell transplantation for bone marrow failure syndromes in children. Biol Blood Marrow Transplant 2009, 15:279-292.
-
(2009)
Biol Blood Marrow Transplant
, vol.15
, pp. 279-292
-
-
Myers, K.C.1
Davies, S.M.2
-
27
-
-
33847349880
-
Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia
-
Wagner J.E., Eapen M., MacMillan M.L., Harris R.E., Pasquini R., Boulad F., et al. Unrelated donor bone marrow transplantation for the treatment of Fanconi anemia. Blood 2007, 109:2256-2262.
-
(2007)
Blood
, vol.109
, pp. 2256-2262
-
-
Wagner, J.E.1
Eapen, M.2
MacMillan, M.L.3
Harris, R.E.4
Pasquini, R.5
Boulad, F.6
-
28
-
-
0030052691
-
Malignancies after marrow transplantation for aplastic anemia and fanconi anemia: a joint Seattle and Paris analysis of results in 700 patients
-
Deeg H.J., Socie G., Schoch G., Henry-Amar M., Witherspoon R.P., Devergie A., et al. Malignancies after marrow transplantation for aplastic anemia and fanconi anemia: a joint Seattle and Paris analysis of results in 700 patients. Blood 1996, 87:386-392.
-
(1996)
Blood
, vol.87
, pp. 386-392
-
-
Deeg, H.J.1
Socie, G.2
Schoch, G.3
Henry-Amar, M.4
Witherspoon, R.P.5
Devergie, A.6
-
29
-
-
9144236362
-
Acute graft-versus-host disease in patients with Fanconi anemia or acquired aplastic anemia undergoing bone marrow transplantation from HLA-identical sibling donors: risk factors and influence on outcome
-
Guardiola P., Socie G., Li X., Ribaud P., Devergie A., Esperou H., et al. Acute graft-versus-host disease in patients with Fanconi anemia or acquired aplastic anemia undergoing bone marrow transplantation from HLA-identical sibling donors: risk factors and influence on outcome. Blood 2004, 103:73-77.
-
(2004)
Blood
, vol.103
, pp. 73-77
-
-
Guardiola, P.1
Socie, G.2
Li, X.3
Ribaud, P.4
Devergie, A.5
Esperou, H.6
-
30
-
-
7244234131
-
Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditions
-
Velazquez I., Alter B.P. Androgens and liver tumors: Fanconi's anemia and non-Fanconi's conditions. Am J Hematol 2004, 77:257-267.
-
(2004)
Am J Hematol
, vol.77
, pp. 257-267
-
-
Velazquez, I.1
Alter, B.P.2
-
31
-
-
0345720836
-
Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients
-
Kutler D.I., Wreesmann V.B., Goberdhan A., Ben-Porat L., Satagopan J., Ngai I., et al. Human papillomavirus DNA and p53 polymorphisms in squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst 2003, 95:1718-1721.
-
(2003)
J Natl Cancer Inst
, vol.95
, pp. 1718-1721
-
-
Kutler, D.I.1
Wreesmann, V.B.2
Goberdhan, A.3
Ben-Porat, L.4
Satagopan, J.5
Ngai, I.6
-
32
-
-
56749181183
-
Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients
-
van Zeeburg H.J., Snijders P.J., Wu T., Gluckman E., Soulier J., Surralles J., et al. Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst 2008, 100:1649-1653.
-
(2008)
J Natl Cancer Inst
, vol.100
, pp. 1649-1653
-
-
van Zeeburg, H.J.1
Snijders, P.J.2
Wu, T.3
Gluckman, E.4
Soulier, J.5
Surralles, J.6
-
33
-
-
33745939777
-
Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita
-
Al-Rahawan M.M., Giri N., Alter B.P. Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita. Int J Hematol 2006, 83:275-276.
-
(2006)
Int J Hematol
, vol.83
, pp. 275-276
-
-
Al-Rahawan, M.M.1
Giri, N.2
Alter, B.P.3
-
34
-
-
67651252761
-
-
American Society of Hematology, American Society of Hematology
-
Rosenberg P.S., Giri N., Savage S.A., BP A. Cancer epidemiology in the National Cancer Institute inherited bone marrow failure syndromes cohort: first report 2008, American Society of Hematology, American Society of Hematology.
-
(2008)
Cancer epidemiology in the National Cancer Institute inherited bone marrow failure syndromes cohort: first report
-
-
Rosenberg, P.S.1
Giri, N.2
Savage, S.A.3
BP, A.4
-
35
-
-
33645508898
-
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
-
Vulliamy T.J., Marrone A., Knight S.W., Walne A., Mason P.J., Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006, 107:2680-2685.
-
(2006)
Blood
, vol.107
, pp. 2680-2685
-
-
Vulliamy, T.J.1
Marrone, A.2
Knight, S.W.3
Walne, A.4
Mason, P.J.5
Dokal, I.6
-
37
-
-
34047188508
-
Telomerase mutations in families with idiopathic pulmonary fibrosis
-
Armanios M.Y., Chen J.J., Cogan J.D., Alder J.K., Ingersoll R.G., Markin C., et al. Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med 2007, 356:1317-1326.
-
(2007)
N Engl J Med
, vol.356
, pp. 1317-1326
-
-
Armanios, M.Y.1
Chen, J.J.2
Cogan, J.D.3
Alder, J.K.4
Ingersoll, R.G.5
Markin, C.6
-
38
-
-
0033995109
-
Fanconi anemia: myelodysplasia as a predictor of outcome
-
Alter B.P., Caruso J.P., Drachtman R.A., Uchida R., Velagaleti G.V.N., Elghetany M.T. Fanconi anemia: myelodysplasia as a predictor of outcome. Cancer Genet Cytogenet 2000, 117:125-131.
-
(2000)
Cancer Genet Cytogenet
, vol.117
, pp. 125-131
-
-
Alter, B.P.1
Caruso, J.P.2
Drachtman, R.A.3
Uchida, R.4
Velagaleti, G.V.N.5
Elghetany, M.T.6
-
39
-
-
34548828783
-
Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
-
Alter B.P., Baerlocher G.M., Savage S.A., Chanock S.J., Weksler B.B., Willner J.P., et al. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007, 110:1439-1447.
-
(2007)
Blood
, vol.110
, pp. 1439-1447
-
-
Alter, B.P.1
Baerlocher, G.M.2
Savage, S.A.3
Chanock, S.J.4
Weksler, B.B.5
Willner, J.P.6
-
40
-
-
58849153303
-
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
-
Du H.Y., Pumbo E., Ivanovich J., An P., Maziarz R.T., Reiss U.M., et al. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009, 113:309-316.
-
(2009)
Blood
, vol.113
, pp. 309-316
-
-
Du, H.Y.1
Pumbo, E.2
Ivanovich, J.3
An, P.4
Maziarz, R.T.5
Reiss, U.M.6
-
41
-
-
63149186313
-
Advances in the understanding of dyskeratosis congenita
-
Walne A.J., Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol 2009, 145:164-172.
-
(2009)
Br J Haematol
, vol.145
, pp. 164-172
-
-
Walne, A.J.1
Dokal, I.2
-
42
-
-
64249090973
-
Dyskeratosis congenita, stem cells and telomeres
-
Kirwan M., Dokal I. Dyskeratosis congenita, stem cells and telomeres. Biochim Biophys Acta 2009, 1792:371-379.
-
(2009)
Biochim Biophys Acta
, vol.1792
, pp. 371-379
-
-
Kirwan, M.1
Dokal, I.2
-
43
-
-
38849168568
-
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
-
Marrone A., Walne A., Tamary H., Masunari Y., Kirwan M., Beswick R., et al. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood 2007, 110:4198-4205.
-
(2007)
Blood
, vol.110
, pp. 4198-4205
-
-
Marrone, A.1
Walne, A.2
Tamary, H.3
Masunari, Y.4
Kirwan, M.5
Beswick, R.6
-
44
-
-
38949103402
-
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene
-
Du H.Y., Pumbo E., Manley P., Field J.J., Bayliss S.J., Wilson D.B., et al. Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. Blood 2008, 111:1128-1130.
-
(2008)
Blood
, vol.111
, pp. 1128-1130
-
-
Du, H.Y.1
Pumbo, E.2
Manley, P.3
Field, J.J.4
Bayliss, S.J.5
Wilson, D.B.6
-
45
-
-
2442617343
-
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
-
Vulliamy T., Marrone A., Szydlo R., Walne A., Mason P.J., Dokal I. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 2004, 36:447-449.
-
(2004)
Nat Genet
, vol.36
, pp. 447-449
-
-
Vulliamy, T.1
Marrone, A.2
Szydlo, R.3
Walne, A.4
Mason, P.J.5
Dokal, I.6
-
46
-
-
27644574342
-
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita
-
Armanios M., Chen J.L., Chang Y.P., Brodsky R.A., Hawkins A., Griffin C.A., et al. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A 2005, 102:15960-15964.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 15960-15964
-
-
Armanios, M.1
Chen, J.L.2
Chang, Y.P.3
Brodsky, R.A.4
Hawkins, A.5
Griffin, C.A.6
-
47
-
-
0041592752
-
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome
-
Yamaguchi H., Baerlocher G.M., Lansdorp P.M., Chanock S.J., Nunez O., Sloand E., et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood 2003, 102:916-918.
-
(2003)
Blood
, vol.102
, pp. 916-918
-
-
Yamaguchi, H.1
Baerlocher, G.M.2
Lansdorp, P.M.3
Chanock, S.J.4
Nunez, O.5
Sloand, E.6
-
48
-
-
18844421369
-
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure
-
Vulliamy T.J., Walne A., Baskaradas A., Mason P.J., Marrone A., Dokal I. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 2005, 34:257-263.
-
(2005)
Blood Cells Mol Dis
, vol.34
, pp. 257-263
-
-
Vulliamy, T.J.1
Walne, A.2
Baskaradas, A.3
Mason, P.J.4
Marrone, A.5
Dokal, I.6
-
49
-
-
15944422499
-
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia
-
Yamaguchi H., Calado R.T., Ly H., Kajigaya S., Baerlocher G.M., Chanock S.J., et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med 2005, 352:1413-1424.
-
(2005)
N Engl J Med
, vol.352
, pp. 1413-1424
-
-
Yamaguchi, H.1
Calado, R.T.2
Ly, H.3
Kajigaya, S.4
Baerlocher, G.M.5
Chanock, S.J.6
-
50
-
-
34250614359
-
Adult-onset pulmonary fibrosis caused by mutations in telomerase
-
Tsakiri K.D., Cronkhite J.T., Kuan P.J., Xing C., Raghu G., Weissler J.C., et al. Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci U S A 2007, 104:7552-7557.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 7552-7557
-
-
Tsakiri, K.D.1
Cronkhite, J.T.2
Kuan, P.J.3
Xing, C.4
Raghu, G.5
Weissler, J.C.6
-
51
-
-
51349113450
-
Short telomeres are a risk factor for idiopathic pulmonary fibrosis
-
Alder J.K., Chen J.J., Lancaster L., Danoff S., Su S.C., Cogan J.D., et al. Short telomeres are a risk factor for idiopathic pulmonary fibrosis. Proc Natl Acad Sci U S A 2008, 105:13051-13056.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 13051-13056
-
-
Alder, J.K.1
Chen, J.J.2
Lancaster, L.3
Danoff, S.4
Su, S.C.5
Cogan, J.D.6
-
52
-
-
40749085700
-
TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita
-
Savage S.A., Giri N., Baerlocher G.M., Orr N., Lansdorp P.M., Alter B.P. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008, 82:501-509.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 501-509
-
-
Savage, S.A.1
Giri, N.2
Baerlocher, G.M.3
Orr, N.4
Lansdorp, P.M.5
Alter, B.P.6
-
53
-
-
55749094159
-
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
-
Walne A.J., Vulliamy T., Beswick R., Kirwan M., Dokal I. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008, 112:3594-3600.
-
(2008)
Blood
, vol.112
, pp. 3594-3600
-
-
Walne, A.J.1
Vulliamy, T.2
Beswick, R.3
Kirwan, M.4
Dokal, I.5
-
54
-
-
34247166543
-
Inherited bone marrow failure syndromes: molecular features
-
Shimamura A. Inherited bone marrow failure syndromes: molecular features. Hematol Am Soc Hematol Educ Program 2006, 63-71.
-
(2006)
Hematol Am Soc Hematol Educ Program
, pp. 63-71
-
-
Shimamura, A.1
-
55
-
-
19444374397
-
The many facets of H/ACA ribonucleoproteins
-
Meier U.T. The many facets of H/ACA ribonucleoproteins. Chromosoma 2005, 114:1-14.
-
(2005)
Chromosoma
, vol.114
, pp. 1-14
-
-
Meier, U.T.1
-
56
-
-
0037292453
-
Ribosome structure and activity are altered in cells lacking snoRNPs that form pseudouridines in the peptidyl transferase center
-
King T.H., Liu B., McCully R.R., Fournier M.J. Ribosome structure and activity are altered in cells lacking snoRNPs that form pseudouridines in the peptidyl transferase center. Mol Cell 2003, 11:425-435.
-
(2003)
Mol Cell
, vol.11
, pp. 425-435
-
-
King, T.H.1
Liu, B.2
McCully, R.R.3
Fournier, M.J.4
-
57
-
-
3242656131
-
Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing
-
Mochizuki Y., He J., Kulkarni S., Bessler M., Mason P.J. Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing. Proc Natl Acad Sci U S A 2004, 101:10756-10761.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 10756-10761
-
-
Mochizuki, Y.1
He, J.2
Kulkarni, S.3
Bessler, M.4
Mason, P.J.5
-
58
-
-
0037428129
-
Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification
-
Ruggero D., Grisendi S., Piazza F., Rego E., Mari F., Rao P.H., et al. Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification. Science 2003, 299:259-262.
-
(2003)
Science
, vol.299
, pp. 259-262
-
-
Ruggero, D.1
Grisendi, S.2
Piazza, F.3
Rego, E.4
Mari, F.5
Rao, P.H.6
-
59
-
-
33646543044
-
Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita
-
Yoon A., Peng G., Brandenburg Y., Zollo O., Xu W., Rego E., et al. Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita. Science 2006, 312:902-906.
-
(2006)
Science
, vol.312
, pp. 902-906
-
-
Yoon, A.1
Peng, G.2
Brandenburg, Y.3
Zollo, O.4
Xu, W.5
Rego, E.6
-
60
-
-
0026095226
-
Late vascular complications after bone marrow transplantation for dyskeratosis congenita
-
Berthou C., Devergi A., D'Agay M.F., Sonsino E., Scrobohaci M.L., Loirat C., et al. Late vascular complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol 1991, 79:335-336.
-
(1991)
Br J Haematol
, vol.79
, pp. 335-336
-
-
Berthou, C.1
Devergi, A.2
D'Agay, M.F.3
Sonsino, E.4
Scrobohaci, M.L.5
Loirat, C.6
-
61
-
-
0344851536
-
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
-
Fogarty P.F., Yamaguchi H., Wiestner A., Baerlocher G.M., Sloand E., Zeng W.S., et al. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA. Lancet 2003, 362:1628-1630.
-
(2003)
Lancet
, vol.362
, pp. 1628-1630
-
-
Fogarty, P.F.1
Yamaguchi, H.2
Wiestner, A.3
Baerlocher, G.M.4
Sloand, E.5
Zeng, W.S.6
-
62
-
-
0031010068
-
Treatment of dyskeratosis congenita with granulocyte macrophage colony-stimulating factor and erythropoietin
-
Alter B.P., Gardner E.H., Hall R.E. Treatment of dyskeratosis congenita with granulocyte macrophage colony-stimulating factor and erythropoietin. Br J Haematol 1997, 97:309-311.
-
(1997)
Br J Haematol
, vol.97
, pp. 309-311
-
-
Alter, B.P.1
Gardner, E.H.2
Hall, R.E.3
-
63
-
-
34548153469
-
Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor
-
Giri N., Pitel P.A., Green D., Alter B.P. Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor. Br J Haematol 2007, 138:815-817.
-
(2007)
Br J Haematol
, vol.138
, pp. 815-817
-
-
Giri, N.1
Pitel, P.A.2
Green, D.3
Alter, B.P.4
-
64
-
-
77952669769
-
-
Fanconi Anemia Research Fund, Inc., Eugene, OR, Fanconi Anemia Research Fund I
-
Fanconi Anemia Research Fund I Guidelines for diagnosis and management 2008, Fanconi Anemia Research Fund, Inc., Eugene, OR.
-
(2008)
Guidelines for diagnosis and management
-
-
-
65
-
-
0021999796
-
Diamond-Blackfan syndrome in adult patients
-
Balaban E.P., Buchanan G.R., Graham M., Frenkel E.P. Diamond-Blackfan syndrome in adult patients. Am J Med 1985, 78:533-538.
-
(1985)
Am J Med
, vol.78
, pp. 533-538
-
-
Balaban, E.P.1
Buchanan, G.R.2
Graham, M.3
Frenkel, E.P.4
-
66
-
-
62949245936
-
Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis
-
Lipton J.M., Ellis S.R. Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis. Hematol Oncol Clin North Am 2009, 23:261-282.
-
(2009)
Hematol Oncol Clin North Am
, vol.23
, pp. 261-282
-
-
Lipton, J.M.1
Ellis, S.R.2
-
67
-
-
1942486326
-
Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation
-
Matsson H., Davey E.J., Draptchinskaia N., Hamaguchi I., Ooka A., Leveen P., et al. Targeted disruption of the ribosomal protein S19 gene is lethal prior to implantation. Mol Cell Biol 2004, 24:4032-4037.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 4032-4037
-
-
Matsson, H.1
Davey, E.J.2
Draptchinskaia, N.3
Hamaguchi, I.4
Ooka, A.5
Leveen, P.6
-
68
-
-
48249117726
-
Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects
-
McGowan K.A., Li J.Z., Park C.Y., Beaudry V., Tabor H.K., Sabnis A.J., et al. Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects. Nat Genet 2008, 40:963-970.
-
(2008)
Nat Genet
, vol.40
, pp. 963-970
-
-
McGowan, K.A.1
Li, J.Z.2
Park, C.Y.3
Beaudry, V.4
Tabor, H.K.5
Sabnis, A.J.6
-
69
-
-
57649107153
-
Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family
-
Danilova N., Sakamoto K.M., Lin S. Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family. Blood 2008, 112:5228-5237.
-
(2008)
Blood
, vol.112
, pp. 5228-5237
-
-
Danilova, N.1
Sakamoto, K.M.2
Lin, S.3
-
70
-
-
53349108470
-
Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia
-
Uechi T., Nakajima Y., Chakraborty A., Torihara H., Higa S., Kenmochi N. Deficiency of ribosomal protein S19 during early embryogenesis leads to reduction of erythrocytes in a zebrafish model of Diamond-Blackfan anemia. Hum Mol Genet 2008, 17:3204-3211.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3204-3211
-
-
Uechi, T.1
Nakajima, Y.2
Chakraborty, A.3
Torihara, H.4
Higa, S.5
Kenmochi, N.6
-
71
-
-
55549110774
-
Diamond-Blackfan anemia: a ribosomal puzzle
-
Dianzani I., Loreni F. Diamond-Blackfan anemia: a ribosomal puzzle. Haematologica 2008, 93:1601-1604.
-
(2008)
Haematologica
, vol.93
, pp. 1601-1604
-
-
Dianzani, I.1
Loreni, F.2
-
72
-
-
39049136491
-
Diamond Blackfan anemia: a disorder of red blood cell development
-
Ellis S.R., Lipton J.M. Diamond Blackfan anemia: a disorder of red blood cell development. Curr Top Dev Biol 2008, 82:217-241.
-
(2008)
Curr Top Dev Biol
, vol.82
, pp. 217-241
-
-
Ellis, S.R.1
Lipton, J.M.2
-
73
-
-
4344660471
-
Inhibition of HDM2 and activation of p53 by ribosomal protein L23
-
Jin A., Itahana K., O'Keefe K., Zhang Y. Inhibition of HDM2 and activation of p53 by ribosomal protein L23. Mol Cell Biol 2004, 24:7669-7680.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 7669-7680
-
-
Jin, A.1
Itahana, K.2
O'Keefe, K.3
Zhang, Y.4
-
74
-
-
4344685939
-
Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition
-
Dai M.S., Zeng S.X., Jin Y., Sun X.X., David L., Lu H. Ribosomal protein L23 activates p53 by inhibiting MDM2 function in response to ribosomal perturbation but not to translation inhibition. Mol Cell Biol 2004, 24:7654-7668.
-
(2004)
Mol Cell Biol
, vol.24
, pp. 7654-7668
-
-
Dai, M.S.1
Zeng, S.X.2
Jin, Y.3
Sun, X.X.4
David, L.5
Lu, H.6
-
75
-
-
0027999512
-
The ribosomal L5 protein is associated with mdm-2 and mdm-2-p53 complexes
-
Marechal V., Elenbaas B., Piette J., Nicolas J.C., Levine A.J. The ribosomal L5 protein is associated with mdm-2 and mdm-2-p53 complexes. Mol Cell Biol 1994, 14:7414-7420.
-
(1994)
Mol Cell Biol
, vol.14
, pp. 7414-7420
-
-
Marechal, V.1
Elenbaas, B.2
Piette, J.3
Nicolas, J.C.4
Levine, A.J.5
-
76
-
-
0038724615
-
Regulation of HDM2 activity by the ribosomal protein L11
-
Lohrum M.A., Ludwig R.L., Kubbutat M.H., Hanlon M., Vousden K.H. Regulation of HDM2 activity by the ribosomal protein L11. Cancer Cell 2003, 3:577-587.
-
(2003)
Cancer Cell
, vol.3
, pp. 577-587
-
-
Lohrum, M.A.1
Ludwig, R.L.2
Kubbutat, M.H.3
Hanlon, M.4
Vousden, K.H.5
-
77
-
-
0242721592
-
Ribosomal protein L11 negatively regulates oncoprotein MDM2 and mediates a p53-dependent ribosomal-stress checkpoint pathway
-
Zhang Y., Wolf G.W., Bhat K., Jin A., Allio T., Burkhart W.A., et al. Ribosomal protein L11 negatively regulates oncoprotein MDM2 and mediates a p53-dependent ribosomal-stress checkpoint pathway. Mol Cell Biol 2003, 23:8902-8912.
-
(2003)
Mol Cell Biol
, vol.23
, pp. 8902-8912
-
-
Zhang, Y.1
Wolf, G.W.2
Bhat, K.3
Jin, A.4
Allio, T.5
Burkhart, W.A.6
-
78
-
-
64049107857
-
Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction
-
Fumagalli S., Di Cara A., Neb-Gulati A., Natt F., Schwemberger S., Hall J., et al. Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction. Nat Cell Biol 2009, 11:501-508.
-
(2009)
Nat Cell Biol
, vol.11
, pp. 501-508
-
-
Fumagalli, S.1
Di Cara, A.2
Neb-Gulati, A.3
Natt, F.4
Schwemberger, S.5
Hall, J.6
-
79
-
-
38349088899
-
Identification of RPS14 as a 5q-syndrome gene by RNA interference screen
-
Ebert B.L., Pretz J., Bosco J., Chang C.Y., Tamayo P., Galili N., et al. Identification of RPS14 as a 5q-syndrome gene by RNA interference screen. Nature 2008, 451:335-339.
-
(2008)
Nature
, vol.451
, pp. 335-339
-
-
Ebert, B.L.1
Pretz, J.2
Bosco, J.3
Chang, C.Y.4
Tamayo, P.5
Galili, N.6
-
80
-
-
0031001278
-
Iron-chelating therapy and the treatment of thalassemia
-
Olivieri N.F., Brittenham G.M. Iron-chelating therapy and the treatment of thalassemia. Blood 1997, 89:739-761.
-
(1997)
Blood
, vol.89
, pp. 739-761
-
-
Olivieri, N.F.1
Brittenham, G.M.2
-
81
-
-
70449567430
-
Severe iron overload in Blackfan-Diamond anemia: a case-control study
-
Roggero S., Quarello P., Vinciguerra T., Longo F., Piga A., Ramenghi U. Severe iron overload in Blackfan-Diamond anemia: a case-control study. Am J Hematol 2009, 84:729-732.
-
(2009)
Am J Hematol
, vol.84
, pp. 729-732
-
-
Roggero, S.1
Quarello, P.2
Vinciguerra, T.3
Longo, F.4
Piga, A.5
Ramenghi, U.6
-
82
-
-
0000785397
-
The syndrome of pancreatic insufficiency and bone marrow dysfunction
-
Shwachman H., Diamond L.K., Oski F.A., Khaw K.T. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 1964, 65:645-663.
-
(1964)
J Pediatr
, vol.65
, pp. 645-663
-
-
Shwachman, H.1
Diamond, L.K.2
Oski, F.A.3
Khaw, K.T.4
-
83
-
-
0036694924
-
Shwachman-Diamond syndrome: report from an international conference
-
Rothbaum R., Perrault J., Vlachos A., Cipolli M., Alter B.P., Burroughs S., et al. Shwachman-Diamond syndrome: report from an international conference. J Pediatr 2002, 141:266-270.
-
(2002)
J Pediatr
, vol.141
, pp. 266-270
-
-
Rothbaum, R.1
Perrault, J.2
Vlachos, A.3
Cipolli, M.4
Alter, B.P.5
Burroughs, S.6
-
84
-
-
0021148138
-
Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases among 16 Finnish patients
-
Savilahti E., Rapola J. Frequent myocardial lesions in Shwachman's syndrome. Eight fatal cases among 16 Finnish patients. Acta Paediatr Scand 1984, 73:642-651.
-
(1984)
Acta Paediatr Scand
, vol.73
, pp. 642-651
-
-
Savilahti, E.1
Rapola, J.2
-
85
-
-
0032728680
-
Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome
-
Alter B.P., Kumar M., Lockhart L.L., Sprinz P.G., Rowe T.F. Pregnancy in bone marrow failure syndromes: Diamond-Blackfan anaemia and Shwachman-Diamond syndrome. Br J Haematol 1999, 107:49-54.
-
(1999)
Br J Haematol
, vol.107
, pp. 49-54
-
-
Alter, B.P.1
Kumar, M.2
Lockhart, L.L.3
Sprinz, P.G.4
Rowe, T.F.5
-
86
-
-
0037229094
-
Mutations in SBDS are associated with Shwachman-Diamond syndrome
-
Boocock G.R., Morrison J.A., Popovic M., Richards N., Ellis L., Durie P.R., 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
Richards, N.4
Ellis, L.5
Durie, P.R.6
-
87
-
-
33747786334
-
Loss of the mouse ortholog of the Shwachman-Diamond syndrome gene (sbds) results in early embryonic lethality
-
Zhang S., Shi M., Hui C.C., Rommens J.M. Loss of the mouse ortholog of the Shwachman-Diamond syndrome gene (sbds) results in early embryonic lethality. Mol Cell Biol 2006, 26:6656-6663.
-
(2006)
Mol Cell Biol
, vol.26
, pp. 6656-6663
-
-
Zhang, S.1
Shi, M.2
Hui, C.C.3
Rommens, J.M.4
-
88
-
-
21444446063
-
The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism
-
Savchenko A., Krogan N., Cort J.R., Evdokimova E., Lew J.M., Yee A.A., et al. The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism. J Biol Chem 2005, 280:19213-19220.
-
(2005)
J Biol Chem
, vol.280
, pp. 19213-19220
-
-
Savchenko, A.1
Krogan, N.2
Cort, J.R.3
Evdokimova, E.4
Lew, J.M.5
Yee, A.A.6
-
89
-
-
21444443081
-
Structural and mutational analysis of the SBDS protein family: insight into the leukemia-associated Shwachman-Diamond syndrome
-
Shammas C., Menne T.F., Hilcenko C., Michell S.R., Goyenechea B., Boocock G.R., et al. Structural and mutational analysis of the SBDS protein family: insight into the leukemia-associated Shwachman-Diamond syndrome. J Biol Chem 2005, 280:19221-19229.
-
(2005)
J Biol Chem
, vol.280
, pp. 19221-19229
-
-
Shammas, C.1
Menne, T.F.2
Hilcenko, C.3
Michell, S.R.4
Goyenechea, B.5
Boocock, G.R.6
-
90
-
-
34548864371
-
The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA
-
Ganapathi K.A., Austin K.M., Lee C.S., Dias A., Malsch M.M., Reed R., et al. The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA. Blood 2007, 110:1458-1465.
-
(2007)
Blood
, vol.110
, pp. 1458-1465
-
-
Ganapathi, K.A.1
Austin, K.M.2
Lee, C.S.3
Dias, A.4
Malsch, M.M.5
Reed, R.6
-
91
-
-
67649557492
-
Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein
-
Ng C.L., Waterman D.G., Koonin E.V., Walters A.D., Chong J.P., Isupov M.N., et al. Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein. BMC Struct Biol 2009, 9:32.
-
(2009)
BMC Struct Biol
, vol.9
, pp. 32
-
-
Ng, C.L.1
Waterman, D.G.2
Koonin, E.V.3
Walters, A.D.4
Chong, J.P.5
Isupov, M.N.6
-
92
-
-
66449137253
-
Sdo1p, the yeast orthologue of Shwachman-Bodian-Diamond syndrome protein, binds RNA and interacts with nuclear rRNA-processing factors
-
Luz J.S., Georg R.C., Gomes C.H., Machado-Santelli G.M., Oliveira C.C. Sdo1p, the yeast orthologue of Shwachman-Bodian-Diamond syndrome protein, binds RNA and interacts with nuclear rRNA-processing factors. Yeast 2009, 26:287-298.
-
(2009)
Yeast
, vol.26
, pp. 287-298
-
-
Luz, J.S.1
Georg, R.C.2
Gomes, C.H.3
Machado-Santelli, G.M.4
Oliveira, C.C.5
-
93
-
-
66749150977
-
Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing
-
Rujkijyanont P., Adams S.L., Beyene J., Dror Y. Bone marrow cells from patients with Shwachman-Diamond syndrome abnormally express genes involved in ribosome biogenesis and RNA processing. Br J Haematol 2009, 145:806-815.
-
(2009)
Br J Haematol
, vol.145
, pp. 806-815
-
-
Rujkijyanont, P.1
Adams, S.L.2
Beyene, J.3
Dror, Y.4
-
94
-
-
0035138270
-
The Saccharomyces cerevisiae TIF6 gene encoding translation initiation factor 6 is required for 60S ribosomal subunit biogenesis
-
Basu U., Si K., Warner J.R., Maitra U. The Saccharomyces cerevisiae TIF6 gene encoding translation initiation factor 6 is required for 60S ribosomal subunit biogenesis. Mol Cell Biol 2001, 21:1453-1462.
-
(2001)
Mol Cell Biol
, vol.21
, pp. 1453-1462
-
-
Basu, U.1
Si, K.2
Warner, J.R.3
Maitra, U.4
-
95
-
-
0346243923
-
Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly
-
Ceci M., Gaviraghi C., Gorrini C., Sala L.A., Offenhauser N., Marchisio P.C., et al. Release of eIF6 (p27BBP) from the 60S subunit allows 80S ribosome assembly. Nature 2003, 426:579-584.
-
(2003)
Nature
, vol.426
, pp. 579-584
-
-
Ceci, M.1
Gaviraghi, C.2
Gorrini, C.3
Sala, L.A.4
Offenhauser, N.5
Marchisio, P.C.6
-
96
-
-
73949144076
-
Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome
-
Moore J.B., Farrar J.E., Arceci R.J., Liu J.M., Ellis S.R. Distinct ribosome maturation defects in yeast models of Diamond-Blackfan anemia and Shwachman-Diamond syndrome. Haematologica 2010 Jan, 95(1):57-64.
-
(2010)
Haematologica
, vol.95
, Issue.1
, pp. 57-64
-
-
Moore, J.B.1
Farrar, J.E.2
Arceci, R.J.3
Liu, J.M.4
Ellis, S.R.5
-
97
-
-
41849120845
-
Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome
-
Austin K.M., Gupta M.L., Coats S.A., Tulpule A., Mostoslavsky G., Balazs A.B., et al. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome. J Clin Invest 2008, 118:1511-1518.
-
(2008)
J Clin Invest
, vol.118
, pp. 1511-1518
-
-
Austin, K.M.1
Gupta, M.L.2
Coats, S.A.3
Tulpule, A.4
Mostoslavsky, G.5
Balazs, A.B.6
-
98
-
-
70349382867
-
SBDS expression and localization at the mitotic spindle in human myeloid progenitors
-
Orelio C., Verkuijlen P., Geissler J., van den Berg T.K., Kuijpers T.W. SBDS expression and localization at the mitotic spindle in human myeloid progenitors. PLoS One 2009, 4:e7084.
-
(2009)
PLoS One
, vol.4
-
-
Orelio, C.1
Verkuijlen, P.2
Geissler, J.3
van den Berg, T.K.4
Kuijpers, T.W.5
-
99
-
-
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
-
Maserati E., Pressato B., Valli R., Minelli A., Sainati L., Patitucci F., et al. 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 2009, 145:190-197.
-
(2009)
Br J Haematol
, vol.145
, pp. 190-197
-
-
Maserati, E.1
Pressato, B.2
Valli, R.3
Minelli, A.4
Sainati, L.5
Patitucci, F.6
-
100
-
-
0033230361
-
Shwachman-Diamond syndrome: an inherited preleukemic bone marrow failure disorder with aberrant hematopoietic progenitors and faulty marrow microenvironment
-
Dror Y., Freedman M.H. 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
-
101
-
-
34948893469
-
Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential
-
Rawls A., Gregory A., Wolosznek J., Liu F., Link D. Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential. Blood 2007, 110:2414-2422.
-
(2007)
Blood
, vol.110
, pp. 2414-2422
-
-
Rawls, A.1
Gregory, A.2
Wolosznek, J.3
Liu, F.4
Link, D.5
-
102
-
-
58949102825
-
SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane
-
Watanabe K., Ambekar C., Wang H., Ciccolini A., Schimmer A.D., Dror Y. SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. Apoptosis 2009, 14:77-89.
-
(2009)
Apoptosis
, vol.14
, pp. 77-89
-
-
Watanabe, K.1
Ambekar, C.2
Wang, H.3
Ciccolini, A.4
Schimmer, A.D.5
Dror, Y.6
-
103
-
-
70350776625
-
Shwachman-Bodian-Diamond syndrome is a multi-functional protein implicated in cellular stress responses
-
Ball H.L., Zhang B., Riches J.J., Gandhi R., Li J., Rommens J.M., et al. Shwachman-Bodian-Diamond syndrome is a multi-functional protein implicated in cellular stress responses. Hum Mol Genet 2009, 18:3684-3695.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3684-3695
-
-
Ball, H.L.1
Zhang, B.2
Riches, J.J.3
Gandhi, R.4
Li, J.5
Rommens, J.M.6
-
104
-
-
0034785794
-
Immune function in patients with Shwachman-Diamond syndrome
-
Dror Y., Ginzberg H., Dalal I., Cherepanov V., Downey G., Durie P., 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
Cherepanov, V.4
Downey, G.5
Durie, P.6
-
105
-
-
62949240235
-
Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics
-
Orelio C., Kuijpers T.W. Shwachman-Diamond syndrome neutrophils have altered chemoattractant-induced F-actin polymerization and polarization characteristics. Haematologica 2009, 94:409-413.
-
(2009)
Haematologica
, vol.94
, pp. 409-413
-
-
Orelio, C.1
Kuijpers, T.W.2
-
106
-
-
13844281748
-
Infections in patients with Shwachman-Diamond syndrome
-
Grinspan Z.M., Pikora C.A. Infections in patients with Shwachman-Diamond syndrome. Pediatr Infect Dis J 2005, 24:179-181.
-
(2005)
Pediatr Infect Dis J
, vol.24
, pp. 179-181
-
-
Grinspan, Z.M.1
Pikora, C.A.2
-
107
-
-
33745096897
-
The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
-
Rosenberg P.S., Alter B.P., Bolyard A.A., Bonilla M.A., Boxer L.A., Cham B., et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006, 107:4628-4635.
-
(2006)
Blood
, vol.107
, pp. 4628-4635
-
-
Rosenberg, P.S.1
Alter, B.P.2
Bolyard, A.A.3
Bonilla, M.A.4
Boxer, L.A.5
Cham, B.6
-
108
-
-
37249056583
-
Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia
-
Rosenberg P.S., Alter B.P., Link D.C., Stein S., Rodger E., Bolyard A.A., et al. Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia. Br J Haematol 2008, 140:210-213.
-
(2008)
Br J Haematol
, vol.140
, pp. 210-213
-
-
Rosenberg, P.S.1
Alter, B.P.2
Link, D.C.3
Stein, S.4
Rodger, E.5
Bolyard, A.A.6
-
109
-
-
62649085630
-
Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment
-
Burroughs L., Woolfrey A., Shimamura A. Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am 2009, 23:233-248.
-
(2009)
Hematol Oncol Clin North Am
, vol.23
, pp. 233-248
-
-
Burroughs, L.1
Woolfrey, A.2
Shimamura, A.3
-
110
-
-
32944459632
-
Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation
-
Cesaro S., Oneto R., Messina C., Gibson B.E., Buzyn A., Steward C., et al. Haematopoietic stem cell transplantation for Shwachman-Diamond disease: a study from the European Group for blood and marrow transplantation. Br J Haematol 2005, 131:231-236.
-
(2005)
Br J Haematol
, vol.131
, pp. 231-236
-
-
Cesaro, S.1
Oneto, R.2
Messina, C.3
Gibson, B.E.4
Buzyn, A.5
Steward, C.6
-
111
-
-
27744529813
-
Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry
-
Donadieu J., Michel G., Merlin E., Bordigoni P., Monteux B., Beaupain B., et al. Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry. Bone Marrow Transplant 2005, 36:787-792.
-
(2005)
Bone Marrow Transplant
, vol.36
, pp. 787-792
-
-
Donadieu, J.1
Michel, G.2
Merlin, E.3
Bordigoni, P.4
Monteux, B.5
Beaupain, B.6
-
112
-
-
50049114380
-
Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome
-
Bhatla D., Davies S.M., Shenoy S., Harris R.E., Crockett M., Shoultz L., Smolarek T., Bleesing J., Hansen M., Jodele S., Jordan M., Filipovich A.H., Mehta P.A. Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome. Bone Marrow Transplant 2008 Aug, 42(3):159-165.
-
(2008)
Bone Marrow Transplant
, vol.42
, Issue.3
, pp. 159-165
-
-
Bhatla, D.1
Davies, S.M.2
Shenoy, S.3
Harris, R.E.4
Crockett, M.5
Shoultz, L.6
Smolarek, T.7
Bleesing, J.8
Hansen, M.9
Jodele, S.10
Jordan, M.11
Filipovich, A.H.12
Mehta, P.A.13
-
113
-
-
33749478463
-
The severe chronic neutropenia international registry: 10-year follow-up report
-
Dale D.C., Bolyard A.A., Schwinzer B.G., Pracht G., Bonilla M.A., Boxer L., et al. The severe chronic neutropenia international registry: 10-year follow-up report. Support Cancer Ther 2006, 3:220-231.
-
(2006)
Support Cancer Ther
, vol.3
, pp. 220-231
-
-
Dale, D.C.1
Bolyard, A.A.2
Schwinzer, B.G.3
Pracht, G.4
Bonilla, M.A.5
Boxer, L.6
-
115
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
Dale D.C., Person R.E., Bolyard A.A., Aprikyan A.G., Bos C., Bonilla M.A., 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
Aprikyan, A.G.4
Bos, C.5
Bonilla, M.A.6
-
116
-
-
33745490496
-
Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response
-
Kollner I., Sodeik B., Schreek S., Heyn H., von Neuhoff N., Germeshausen M., et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 2006, 108:493-500.
-
(2006)
Blood
, vol.108
, pp. 493-500
-
-
Kollner, I.1
Sodeik, B.2
Schreek, S.3
Heyn, H.4
von Neuhoff, N.5
Germeshausen, M.6
-
117
-
-
39649098272
-
Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis
-
Grenda D.S., Murakami M., Ghatak J., Xia J., Boxer L.A., Dale D., et al. Mutations of the ELA2 gene found in patients with severe congenital neutropenia induce the unfolded protein response and cellular apoptosis. Blood 2007, 110:4179-4187.
-
(2007)
Blood
, vol.110
, pp. 4179-4187
-
-
Grenda, D.S.1
Murakami, M.2
Ghatak, J.3
Xia, J.4
Boxer, L.A.5
Dale, D.6
-
118
-
-
36549023532
-
Severe congenital neutropenia and the unfolded protein response
-
Xia J., Link D.C. Severe congenital neutropenia and the unfolded protein response. Curr Opin Hematol 2008, 15:1-7.
-
(2008)
Curr Opin Hematol
, vol.15
, pp. 1-7
-
-
Xia, J.1
Link, D.C.2
-
119
-
-
33845904894
-
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
-
Klein C., Grudzien M., Appaswamy G., Germeshausen M., Sandrock I., Schaffer A.A., 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
-
120
-
-
0035093787
-
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
-
Devriendt K., Kim A.S., Mathijs G., Frints S.G., Schwartz M., Van Den Oord J.J., 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
Frints, S.G.4
Schwartz, M.5
Van Den Oord, J.J.6
-
121
-
-
33749343053
-
Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia
-
Ancliff P.J., Blundell M.P., Cory G.O., Calle Y., Worth A., Kempski H., et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood 2006, 108:2182-2189.
-
(2006)
Blood
, vol.108
, pp. 2182-2189
-
-
Ancliff, P.J.1
Blundell, M.P.2
Cory, G.O.3
Calle, Y.4
Worth, A.5
Kempski, H.6
-
122
-
-
34548447079
-
Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia
-
Moulding D.A., Blundell M.P., Spiller D.G., White M.R., Cory G.O., Calle Y., et al. Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia. J Exp Med 2007, 204:2213-2224.
-
(2007)
J Exp Med
, vol.204
, pp. 2213-2224
-
-
Moulding, D.A.1
Blundell, M.P.2
Spiller, D.G.3
White, M.R.4
Cory, G.O.5
Calle, Y.6
-
124
-
-
0038757823
-
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
-
Person R.E., Li F.Q., Duan Z., Benson K.F., Wechsler J., Papadaki H.A., et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003, 34:308-312.
-
(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
-
125
-
-
0036510161
-
Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1
-
Karsunky H., Zeng H., Schmidt T., Zevnik B., Kluge R., Schmid K.W., et al. Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1. Nat Genet 2002, 30:295-300.
-
(2002)
Nat Genet
, vol.30
, pp. 295-300
-
-
Karsunky, H.1
Zeng, H.2
Schmidt, T.3
Zevnik, B.4
Kluge, R.5
Schmid, K.W.6
-
126
-
-
0037244284
-
Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation
-
Hock H., Hamblen M.J., Rooke H.M., Traver D., Bronson R.T., Cameron S., et al. Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation. Immunity 2003, 18:109-120.
-
(2003)
Immunity
, vol.18
, pp. 109-120
-
-
Hock, H.1
Hamblen, M.J.2
Rooke, H.M.3
Traver, D.4
Bronson, R.T.5
Cameron, S.6
-
127
-
-
33644843788
-
Zinc-finger transcription factor Gfi-1: versatile regulator of lymphocytes, neutrophils and hematopoietic stem cells
-
Hock H., Orkin S.H. Zinc-finger transcription factor Gfi-1: versatile regulator of lymphocytes, neutrophils and hematopoietic stem cells. Curr Opin Hematol 2006, 13:1-6.
-
(2006)
Curr Opin Hematol
, vol.13
, pp. 1-6
-
-
Hock, H.1
Orkin, S.H.2
-
128
-
-
33746195568
-
The growth factor independence-1 transcription factor: new functions and new insights
-
Kazanjian A., Gross E.A., Grimes H.L. The growth factor independence-1 transcription factor: new functions and new insights. Crit Rev Oncol Hematol 2006, 59:85-97.
-
(2006)
Crit Rev Oncol Hematol
, vol.59
, pp. 85-97
-
-
Kazanjian, A.1
Gross, E.A.2
Grimes, H.L.3
-
129
-
-
66549105485
-
Gfi1 regulates miR-21 and miR-196b to control myelopoiesis
-
Velu C.S., Baktula A.M., Grimes H.L. Gfi1 regulates miR-21 and miR-196b to control myelopoiesis. Blood 2009, 113:4720-4728.
-
(2009)
Blood
, vol.113
, pp. 4720-4728
-
-
Velu, C.S.1
Baktula, A.M.2
Grimes, H.L.3
-
130
-
-
58249089770
-
A syndrome with congenital neutropenia and mutations in G6PC3
-
Boztug K., Appaswamy G., Ashikov A., Schaffer A.A., Salzer U., Diestelhorst J., et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med 2009, 360:32-43.
-
(2009)
N Engl J Med
, vol.360
, pp. 32-43
-
-
Boztug, K.1
Appaswamy, G.2
Ashikov, A.3
Schaffer, A.A.4
Salzer, U.5
Diestelhorst, J.6
-
131
-
-
33845972945
-
Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey
-
Germeshausen M., Ballmaier M., Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood 2007, 109:93-99.
-
(2007)
Blood
, vol.109
, pp. 93-99
-
-
Germeshausen, M.1
Ballmaier, M.2
Welte, K.3
-
132
-
-
34548820699
-
Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia
-
Link D.C., Kunter G., Kasai Y., Zhao Y., Miner T., McLellan M.D., et al. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood 2007, 110:1648-1655.
-
(2007)
Blood
, vol.110
, pp. 1648-1655
-
-
Link, D.C.1
Kunter, G.2
Kasai, Y.3
Zhao, Y.4
Miner, T.5
McLellan, M.D.6
-
133
-
-
70349747024
-
Novel genetic etiologies of severe congenital neutropenia
-
Boztug K., Klein C. Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol 2009, 21:472-480.
-
(2009)
Curr Opin Immunol
, vol.21
, pp. 472-480
-
-
Boztug, K.1
Klein, C.2
-
134
-
-
0027269718
-
A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (filgrastim) for treatment of severe chronic neutropenia
-
Dale D.C., Bonilla M.A., Davis M.W., Nakanishi A.M., Hammond W.P., 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, 81:2496-2502.
-
(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
-
135
-
-
0034651925
-
Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation
-
Zeidler C., Welte K., Barak Y., Barriga F., Bolyard A.A., Boxer L., 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
Barriga, F.4
Bolyard, A.A.5
Boxer, L.6
-
136
-
-
33745693042
-
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease
-
Germeshausen M., Ballmaier M., Welte K. MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Hum Mutat 2006, 27:296-301.
-
(2006)
Hum Mutat
, vol.27
, pp. 296-301
-
-
Germeshausen, M.1
Ballmaier, M.2
Welte, K.3
-
137
-
-
0033019932
-
Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia
-
Ihara K., Ishii E., Eguchi M., Takada H., Suminoe A., Good R.A., et al. Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. Proc Natl Acad Sci U S A 1999, 96:3132-3136.
-
(1999)
Proc Natl Acad Sci U S A
, vol.96
, pp. 3132-3136
-
-
Ihara, K.1
Ishii, E.2
Eguchi, M.3
Takada, H.4
Suminoe, A.5
Good, R.A.6
-
138
-
-
0028332474
-
Promotion of megakaryocyte progenitor expansion and differentiation by the c-Mpl ligand thrombopoietin
-
Kaushansky K., Lok S., Holly R.D., Broudy V.C., Lin N., Bailey M.C., et al. Promotion of megakaryocyte progenitor expansion and differentiation by the c-Mpl ligand thrombopoietin. Nature 1994, 369:568-571.
-
(1994)
Nature
, vol.369
, pp. 568-571
-
-
Kaushansky, K.1
Lok, S.2
Holly, R.D.3
Broudy, V.C.4
Lin, N.5
Bailey, M.C.6
-
139
-
-
0028343099
-
Identification and cloning of a megakaryocyte growth and development factor that is a ligand for the cytokine receptor Mpl
-
Bartley T.D., Bogenberger J., Hunt P., Li Y.S., Lu H.S., Martin F., et al. Identification and cloning of a megakaryocyte growth and development factor that is a ligand for the cytokine receptor Mpl. Cell 1994, 77:1117-1124.
-
(1994)
Cell
, vol.77
, pp. 1117-1124
-
-
Bartley, T.D.1
Bogenberger, J.2
Hunt, P.3
Li, Y.S.4
Lu, H.S.5
Martin, F.6
-
140
-
-
0028086542
-
Thrombocytopenia in c-mpl-deficient mice
-
Gurney A.L., Carver-Moore K., de Sauvage F.J., Moore M.W. Thrombocytopenia in c-mpl-deficient mice. Science 1994, 265:1445-1447.
-
(1994)
Science
, vol.265
, pp. 1445-1447
-
-
Gurney, A.L.1
Carver-Moore, K.2
de Sauvage, F.J.3
Moore, M.W.4
-
141
-
-
0029960265
-
Deficiencies in progenitor cells of multiple hematopoietic lineages and defective megakaryocytopoiesis in mice lacking the thrombopoietic receptor c-Mpl
-
Alexander W.S., Roberts A.W., Nicola N.A., Li R., Metcalf D. Deficiencies in progenitor cells of multiple hematopoietic lineages and defective megakaryocytopoiesis in mice lacking the thrombopoietic receptor c-Mpl. Blood 1996, 87:2162-2170.
-
(1996)
Blood
, vol.87
, pp. 2162-2170
-
-
Alexander, W.S.1
Roberts, A.W.2
Nicola, N.A.3
Li, R.4
Metcalf, D.5
-
142
-
-
33644795087
-
Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients
-
King S., Germeshausen M., Strauss G., Welte K., Ballmaier M. Congenital amegakaryocytic thrombocytopenia: a retrospective clinical analysis of 20 patients. Br J Haematol 2005, 131:636-644.
-
(2005)
Br J Haematol
, vol.131
, pp. 636-644
-
-
King, S.1
Germeshausen, M.2
Strauss, G.3
Welte, K.4
Ballmaier, M.5
-
143
-
-
0035174334
-
C-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia
-
Ballmaier M., Germeshausen M., Schulze H., Cherkaoui K., Lang S., Gaudig A., et al. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Blood 2001, 97:139-146.
-
(2001)
Blood
, vol.97
, pp. 139-146
-
-
Ballmaier, M.1
Germeshausen, M.2
Schulze, H.3
Cherkaoui, K.4
Lang, S.5
Gaudig, A.6
-
144
-
-
36348961924
-
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations
-
Savoia A., Dufour C., Locatelli F., Noris P., Ambaglio C., Rosti V., et al. Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Haematologica 2007, 92:1186-1193.
-
(2007)
Haematologica
, vol.92
, pp. 1186-1193
-
-
Savoia, A.1
Dufour, C.2
Locatelli, F.3
Noris, P.4
Ambaglio, C.5
Rosti, V.6
-
145
-
-
66949177954
-
Advances in the understanding of congenital amegakaryocytic thrombocytopenia
-
Ballmaier M., Germeshausen M. Advances in the understanding of congenital amegakaryocytic thrombocytopenia. Br J Haematol 2009, 146:3-16.
-
(2009)
Br J Haematol
, vol.146
, pp. 3-16
-
-
Ballmaier, M.1
Germeshausen, M.2
-
146
-
-
62649108879
-
Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii
-
Geddis A.E. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol Oncol Clin North Am 2009, 23:321-331.
-
(2009)
Hematol Oncol Clin North Am
, vol.23
, pp. 321-331
-
-
Geddis, A.E.1
-
147
-
-
0027470022
-
Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia
-
Guinan E.C., Lee Y.S., Lopez K.D., Kohler S., Oette D.H., Bruno E., et al. Effects of interleukin-3 and granulocyte-macrophage colony-stimulating factor on thrombopoiesis in congenital amegakaryocytic thrombocytopenia. Blood 1993, 81:1691-1698.
-
(1993)
Blood
, vol.81
, pp. 1691-1698
-
-
Guinan, E.C.1
Lee, Y.S.2
Lopez, K.D.3
Kohler, S.4
Oette, D.H.5
Bruno, E.6
-
148
-
-
0034936465
-
Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome
-
Thompson A.A., Woodruff K., Feig S.A., Nguyen L.T., Schanen N.C. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome. Br J Haematol 2001, 113:866-870.
-
(2001)
Br J Haematol
, vol.113
, pp. 866-870
-
-
Thompson, A.A.1
Woodruff, K.2
Feig, S.A.3
Nguyen, L.T.4
Schanen, N.C.5
-
149
-
-
77952573629
-
Pearson syndrome (PS) presenting as nonimmune hydrops fetalis
-
Oblender M.G., Richardson C.J., Alter B.P. Pearson syndrome (PS) presenting as nonimmune hydrops fetalis. Clin Res 1993, 41.
-
(1993)
Clin Res
, pp. 41
-
-
Oblender, M.G.1
Richardson, C.J.2
Alter, B.P.3
-
150
-
-
77952555461
-
Cytokine treatment improves the hematologic manifestations of Pearson's syndrome
-
Fleming W.H., Trounce I., N.K., et al. Cytokine treatment improves the hematologic manifestations of Pearson's syndrome. Blood Cells Mol Dis 1994, 84.
-
(1994)
Blood Cells Mol Dis
, pp. 84
-
-
Fleming, W.H.1
Trounce, I.2
-
151
-
-
50249089462
-
Cord blood transplantation in a child with Pearson's disease
-
Hoyoux C., Dresse M.F., Robinet S., Forget P., Pieltain C., Ketelslegers O., et al. Cord blood transplantation in a child with Pearson's disease. Pediatr Blood Cancer 2008, 51:566.
-
(2008)
Pediatr Blood Cancer
, vol.51
, pp. 566
-
-
Hoyoux, C.1
Dresse, M.F.2
Robinet, S.3
Forget, P.4
Pieltain, C.5
Ketelslegers, O.6
-
152
-
-
34250676955
-
Mitochondrial diseases: therapeutic approaches
-
DiMauro S., Mancuso M. Mitochondrial diseases: therapeutic approaches. Biosci Rep 2007, 27:125-137.
-
(2007)
Biosci Rep
, vol.27
, pp. 125-137
-
-
DiMauro, S.1
Mancuso, M.2
-
153
-
-
1942509437
-
Inherited bone marrow failure syndromes
-
W.B. Saunders, Philadelphia
-
Alter B.P. Inherited bone marrow failure syndromes. Nathan and Oski's hematology of infancy and childhood 2003, Vol. 1:280-365. W.B. Saunders, Philadelphia.
-
(2003)
Nathan and Oski's hematology of infancy and childhood
, vol.1
, pp. 280-365
-
-
Alter, B.P.1
-
154
-
-
77952672679
-
Leiden Open Variation Database: Fanconi anemia database: Leiden University Medical Center 2009
-
Leiden Open Variation Database: Fanconi anemia database: Leiden University Medical Center 2009.
-
-
-
-
155
-
-
77952669887
-
-
Online Mendelian Inheritance in Man, OMIM (TM) ®: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, National Center for Biotechnology Information, National Library of Medicine
-
Online Mendelian Inheritance in Man, OMIM (TM) ®: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, National Center for Biotechnology Information, National Library of Medicine; 2009.
-
(2009)
-
-
|