-
1
-
-
0038777336
-
Inherited thrombocytopenias: A proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine
-
Balduini CL, Cattaneo M, Fabris F, et al. Inherited thrombocytopenias: a proposed diagnostic algorithm from the Italian Gruppo di Studio delle Piastrine. Haematologica. 2003;88(5):582-592. (Pubitemid 36648448)
-
(2003)
Haematologica
, vol.88
, Issue.5
, pp. 582-592
-
-
Balduini, C.L.1
Cattaneo, M.2
Fabris, F.3
Gresele, P.4
Iolascon, A.5
Pulcinelli, F.M.6
Savoia, A.7
-
2
-
-
79959279291
-
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: Analysis of 78 patients from 21 families
-
Noris P, Perrotta S, Seri M, et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood. 2011;117(24):6673-6680.
-
(2011)
Blood
, vol.117
, Issue.24
, pp. 6673-6680
-
-
Noris, P.1
Perrotta, S.2
Seri, M.3
-
3
-
-
78650879044
-
Mutations in the 5′UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
-
Pippucci T, Savoia A, Perrotta S, et al. Mutations in the 5′UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet. 2011;88(1):115-120.
-
(2011)
Am J Hum Genet.
, vol.88
, Issue.1
, pp. 115-120
-
-
Pippucci, T.1
Savoia, A.2
Perrotta, S.3
-
4
-
-
41349097770
-
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia
-
DOI 10.1038/ng.103, PII NG103
-
Morison IM, Cramer Borde EM, Cheesman EJ, et al. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet. 2008;40(4):387-389. (Pubitemid 351450877)
-
(2008)
Nature Genetics
, vol.40
, Issue.4
, pp. 387-389
-
-
Morison, I.M.1
Cramer Borde, E.M.2
Cheesman, E.J.3
Cheong, P.L.4
Holyoake, A.J.5
Fichelson, S.6
Weeks, R.J.7
Lo, A.8
Davies, S.M.K.9
Wilbanks, S.M.10
Fagerlund, R.D.11
Ludgate, M.W.12
Da Silva Tatley, F.M.13
Coker, M.S.A.14
Bockett, N.A.15
Hughes, G.16
Pippig, D.A.17
Smith, M.P.18
Capron, C.19
Ledgerwood, E.C.20
more..
-
5
-
-
31544469757
-
POTE paralogs are induced and differentially expressed in many cancers
-
DOI 10.1158/0008-5472.CAN-05-3014
-
Bera TK, Saint Fleur A, Lee Y, et al. POTE paralogs are induced and differentially expressed in many cancers. Cancer Res. 2006;66(1):52-56. (Pubitemid 43166008)
-
(2006)
Cancer Research
, vol.66
, Issue.1
, pp. 52-56
-
-
Bera, T.K.1
Fleur, A.S.2
Lee, Y.3
Kydd, A.4
Hahn, Y.5
Popescu, N.C.6
Zimonjic, D.B.7
Lee, B.8
Pastan, I.9
-
6
-
-
0032830638
-
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
-
DOI 10.1038/13793
-
Song WJ, Sullivan MG, Legare RD, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23(2):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..
-
7
-
-
77956492055
-
A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5) identified in autosomal dominant thrombocytopenia
-
Punzo F, Mientjes EJ, Rohe CF, et al. A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5) identified in autosomal dominant thrombocytopenia. J Thromb Haemost (JTH). 2010;8(9): 2085-2087.
-
(2010)
J Thromb Haemost (JTH)
, vol.8
, Issue.9
, pp. 2085-2087
-
-
Punzo, F.1
Mientjes, E.J.2
Rohe, C.F.3
-
8
-
-
0042173047
-
FLJ14813 missense mutation: A candidate for autosomal dominant thrombocytopenia on human chromosome 10
-
DOI 10.1159/000071812
-
Gandhi MJ, Cummings CL, Drachman JG. FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. Hum Hered. 2003;55(1):66-70. (Pubitemid 36928748)
-
(2003)
Human Heredity
, vol.55
, Issue.1
, pp. 66-70
-
-
Gandhi, M.J.1
Cummings, C.L.2
Drachman, J.G.3
|