-
1
-
-
0032830638
-
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
-
DOI 10.1038/13793
-
Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166-175. (Pubitemid 29455388)
-
(1999)
Nature Genetics
, vol.23
, Issue.2
, pp. 166-175
-
-
Song, W.-J.1
Sullivan, M.G.2
Legare, R.D.3
Hutchings, S.4
Tan, X.5
Kufrin, D.6
Ratajczak, J.7
Resende, I.C.8
Haworth, C.9
Hock, R.10
Loh, M.11
Felix, C.12
Roy, R.-C.13
Busque, L.14
Kurnit, D.15
Willman, C.16
Gewirtz, A.M.17
Speck, N.A.18
Bushweller, J.H.19
Li, F.P.20
Gardiner, K.21
Poncz, M.22
Maris, J.M.23
Gilliland, D.G.24
more..
-
2
-
-
0035525785
-
A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies
-
Buijs A, Poddighe P, van Wijk R, van Solinge W, Borst E, Verdonck L et al. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood 2001; 98: 2856-2858.
-
(2001)
Blood
, vol.98
, pp. 2856-2858
-
-
Buijs, A.1
Poddighe, P.2
Van Wijk, R.3
Van Solinge, W.4
Borst, E.5
Verdonck, L.6
-
3
-
-
58149378467
-
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
-
Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008; 112: 4639-4645.
-
(2008)
Blood
, vol.112
, pp. 4639-4645
-
-
Owen, C.J.1
Toze, C.L.2
Koochin, A.3
Forrest, D.L.4
Smith, C.A.5
Stevens, J.M.6
-
4
-
-
74249104168
-
Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: Clues for improved identification of the FPD/AML syndrome
-
Jongmans MC, Kuiper RP, Carmichael CL, Wilkins EJ, Dors N, Carmagnac A et al. Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. Leukemia 2010; 24: 242-246.
-
(2010)
Leukemia
, vol.24
, pp. 242-246
-
-
Jongmans, M.C.1
Kuiper, R.P.2
Carmichael, C.L.3
Wilkins, E.J.4
Dors, N.5
Carmagnac, A.6
-
5
-
-
51649102382
-
Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q
-
Shinawi M, Erez A, Shardy DL, Lee B, Naeem R, Weissenberger G et al. Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q. Blood 2008; 112: 1042-1047.
-
(2008)
Blood
, vol.112
, pp. 1042-1047
-
-
Shinawi, M.1
Erez, A.2
Shardy, D.L.3
Lee, B.4
Naeem, R.5
Weissenberger, G.6
-
6
-
-
48349142469
-
Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions
-
Beri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V et al. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet 2008; 16: 1014-1018.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 1014-1018
-
-
Beri-Dexheimer, M.1
Latger-Cannard, V.2
Philippe, C.3
Bonnet, C.4
Chambon, P.5
Roth, V.6
-
7
-
-
73249129521
-
Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation
-
van der Crabben S, van Binsbergen E, Ausems M, Poot M, Bierings M, Buijs A. Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. Leuk Res 2010; 34: e8-e12.
-
(2010)
Leuk Res
, vol.34
-
-
Van Der Crabben, S.1
Van Binsbergen, E.2
Ausems, M.3
Poot, M.4
Bierings, M.5
Buijs, A.6
-
8
-
-
74849107151
-
Insights into familial platelet disorder with propensity to myeloid malignancy (FPD/AML)
-
Owen C. Insights into familial platelet disorder with propensity to myeloid malignancy (FPD/AML). Leuk Res 2010; 34: 141-142.
-
(2010)
Leuk Res
, vol.34
, pp. 141-142
-
-
Owen, C.1
-
9
-
-
2942667930
-
Point mutations in the RUNX1/AML1 gene: Another actor in RUNX leukemia
-
DOI 10.1038/sj.onc.1207779
-
Osato M. Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia. Oncogene 2004; 23: 4284-4296. (Pubitemid 38765137)
-
(2004)
Oncogene
, vol.23
, Issue.24
, pp. 4284-4296
-
-
Osato, M.1
-
10
-
-
0037082499
-
In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: Implications for mechanisms of pathogenesis
-
DOI 10.1182/blood.V99.4.1364
-
Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002; 99: 1364-1372. (Pubitemid 34547093)
-
(2002)
Blood
, vol.99
, Issue.4
, pp. 1364-1372
-
-
Michaud, J.1
Wu, F.2
Osato, M.3
Cottles, G.M.4
Yanagida, M.5
Asou, N.6
Shigesada, K.7
Ito, Y.8
Benson, K.F.9
Raskind, W.H.10
Bossier, C.11
Antonarakis, S.E.12
Israels, S.13
McNicol, A.14
Weiss, H.15
Horwitz, M.16
Scott, H.S.17
-
11
-
-
79955416773
-
Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline
-
Kloosterman WP, Guryev V, van Roosmalen M, Duran KJ, de Bruijn E, Bakker SC et al. Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline. Hum Mol Genet 2011; 20: 1916-1924.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1916-1924
-
-
Kloosterman, W.P.1
Guryev, V.2
Van Roosmalen, M.3
Duran, K.J.4
De Bruijn, E.5
Bakker, S.C.6
-
12
-
-
67349202133
-
Cluster analysis of genomic ETV6-RUNX1 (TEL-AML1) fusion sites in childhood acute lymphoblastic leukemia
-
von Goessel H, Jacobs U, Semper S, Krumbholz M, Langer T, Keller T et al. Cluster analysis of genomic ETV6-RUNX1 (TEL-AML1) fusion sites in childhood acute lymphoblastic leukemia. Leuk Res 2009; 33: 1082-1088.
-
(2009)
Leuk Res
, vol.33
, pp. 1082-1088
-
-
Von Goessel, H.1
Jacobs, U.2
Semper, S.3
Krumbholz, M.4
Langer, T.5
Keller, T.6
-
13
-
-
38349165800
-
Runx1-mediated hematopoietic stem-cell emergence is controlled by a Gata/Ets/SCL-regulated enhancer
-
DOI 10.1182/blood-2007-07-100883
-
Nottingham WT, Jarratt A, Burgess M, Speck CL, Cheng JF, Prabhakar S et al. Runx1-mediated hematopoietic stem-cell emergence is controlled by a Gata/Ets/SCL-regulated enhancer. Blood 2007; 110: 4188-4197. (Pubitemid 351377782)
-
(2007)
Blood
, vol.110
, Issue.13
, pp. 4188-4197
-
-
Nottingham, W.T.1
Jarratt, A.2
Burgess, M.3
Speck, C.L.4
Cheng, J.-F.5
Prabhakar, S.6
Rubin, E.M.7
Li, P.-S.8
Sloane-Stanley, J.9
Kong-A-San, J.10
De Bruijn, M.F.T.R.11
-
14
-
-
67149099806
-
The mouse Runx1 +23 hematopoietic stem cell enhancer confers hematopoietic specificity to both Runx1 promoters
-
Bee T, Ashley EL, Bickley SR, Jarratt A, Li PS, Sloane-Stanley J et al. The mouse Runx1 +23 hematopoietic stem cell enhancer confers hematopoietic specificity to both Runx1 promoters. Blood 2009; 113: 5121-5124.
-
(2009)
Blood
, vol.113
, pp. 5121-5124
-
-
Bee, T.1
Ashley, E.L.2
Bickley, S.R.3
Jarratt, A.4
Li, P.S.5
Sloane-Stanley, J.6
-
15
-
-
64149129167
-
MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity
-
Liu L, Ishihara K, Ichimura T, Fujita N, Hino S, Tomita S et al. MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity. J Biol Chem 2009; 284: 5165-5174.
-
(2009)
J Biol Chem
, vol.284
, pp. 5165-5174
-
-
Liu, L.1
Ishihara, K.2
Ichimura, T.3
Fujita, N.4
Hino, S.5
Tomita, S.6
|