-
1
-
-
0033994422
-
Inherited giant platelet disorders - Classification and literature review
-
Mhawech P., Saleem A. Inherited giant platelet disorders - classification and literature review. Am. J. Clin. Pathol. 113:2000;176-190.
-
(2000)
Am. J. Clin. Pathol.
, vol.113
, pp. 176-190
-
-
Mhawech, P.1
Saleem, A.2
-
2
-
-
0034517761
-
Another family with IGPS
-
Rocca B., Maggiano N., De Cristofaro R., Laghi F., Landolfi R. Another family with IGPS. Am. J. Clin. Pathol. 114:2000;823-824.
-
(2000)
Am. J. Clin. Pathol.
, vol.114
, pp. 823-824
-
-
Rocca, B.1
Maggiano, N.2
De Cristofaro, R.3
Laghi, F.4
Landolfi, R.5
-
3
-
-
0034755959
-
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes
-
Heath K.E., Campos Barros A., Toren A., RozenfeldGranot G., Carlsson L.E., Savige J.et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am. J. Hum. Genet. 69:2001;1033-1045.
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1033-1045
-
-
Heath, K.E.1
Campos Barros, A.2
Toren, A.3
Rozenfeldgranot, G.4
Carlsson, L.E.5
Savige, J.6
-
4
-
-
0036739756
-
Five (un)easy pieces: The MYH9-related giant platelet syndromes
-
Martignetti J. Five (un)easy pieces: the MYH9-related giant platelet syndromes. Haematologica. 87:2002;897-902.
-
(2002)
Haematologica
, vol.87
, pp. 897-902
-
-
Martignetti, J.1
-
5
-
-
0035986783
-
Inherited thrombocytopenlas: From genes to therapy
-
Balduini C.L., Iolascon A., Savoia A. Inherited thrombocytopenlas: from genes to therapy. Haematologica. 87:2002;860-880.
-
(2002)
Haematologica
, vol.87
, pp. 860-880
-
-
Balduini, C.L.1
Iolascon, A.2
Savoia, A.3
-
6
-
-
0028073153
-
Bernard-Soulier syndrome kagoshima: Ser 444→stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX
-
Kunishima S., Miura H., Fukutani H., Yoshida H., Osumi K., Kobayashi S. et al. Bernard-Soulier syndrome kagoshima: Ser 444→stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX. Blood. 84:1994;3356-3362.
-
(1994)
Blood
, vol.84
, pp. 3356-3362
-
-
Kunishima, S.1
Miura, H.2
Fukutani, H.3
Yoshida, H.4
Osumi, K.5
Kobayashi, S.6
-
7
-
-
0029016887
-
Glycoprotein IIb-IIIa and glycoprotein IV expression on Bernard-Soulier syndrome platelets
-
Lozano M., Escolar G., Díaz-Ricart M., Mazzara R., Ordinas A. Glycoprotein IIb-IIIa and glycoprotein IV expression on Bernard-Soulier syndrome platelets. Blood. 85:1995;3763.
-
(1995)
Blood
, vol.85
, pp. 3763
-
-
Lozano, M.1
Escolar, G.2
Díaz-Ricart, M.3
Mazzara, R.4
Ordinas, A.5
-
8
-
-
0035282727
-
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome
-
Savoia A., Balduini C.L., Savino M., Noris P., DelVecchio M., Perrotta S.et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood. 97:2001;1330-1335.
-
(2001)
Blood
, vol.97
, pp. 1330-1335
-
-
Savoia, A.1
Balduini, C.L.2
Savino, M.3
Noris, P.4
Delvecchio, M.5
Perrotta, S.6
-
9
-
-
1242344603
-
Quantitation of surface antigens in two giant platelet syndromes using flow cytometry
-
[Suppl.]
-
Drouin J., Leduc M. Quantitation of surface antigens in two giant platelet syndromes using flow cytometry. Thromb. Haemost. 1997;67a. [Suppl.].
-
(1997)
Thromb. Haemost.
-
-
Drouin, J.1
Leduc, M.2
-
10
-
-
0036738003
-
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome
-
Di Pumpo M., Noris P., Pecci A., Savoia A., Seri M., Ceresa I.F.et al. Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica. 87:2002;943-947.
-
(2002)
Haematologica
, vol.87
, pp. 943-947
-
-
Di Pumpo, M.1
Noris, P.2
Pecci, A.3
Savoia, A.4
Seri, M.5
Ceresa, I.F.6
|