-
1
-
-
0141609789
-
Inherited platelet-based bleeding disorders
-
Cattaneo M. Inherited platelet-based bleeding disorders. J Thromb Haemost 2003;1:1628-1636.
-
(2003)
J Thromb Haemost
, vol.1
, pp. 1628-1636
-
-
Cattaneo, M.1
-
2
-
-
33646129692
-
Congenital platelet disorders: Overview of their mechanisms, diagnostic evaluation and treatment
-
Hayward CP, Rao AK, Cattaneo M. Congenital platelet disorders: Overview of their mechanisms, diagnostic evaluation and treatment. Haemophilia 2006;12(Suppl 3):128-136.
-
(2006)
Haemophilia
, vol.12
, Issue.SUPPL. 3
, pp. 128-136
-
-
Hayward, C.P.1
Rao, A.K.2
Cattaneo, M.3
-
3
-
-
80052574167
-
British Committee for Standards in H: Guidelines for the laboratory investigation of heritable disorders of platelet function
-
Harrison P, Mackie I, Mumford A, Briggs C, Liesner R, Winter M, Machin S. British Committee for Standards in H: Guidelines for the laboratory investigation of heritable disorders of platelet function. Brit J Haemat 2011;155:30-44.
-
(2011)
Brit J Haemat
, vol.155
, pp. 30-44
-
-
Harrison, P.1
MacKie, I.2
Mumford, A.3
Briggs, C.4
Liesner, R.5
Winter, M.6
MacHin, S.7
-
4
-
-
0008411940
-
Clinical evaluation of hemorrhagic disorders: The bleeding history and differential diagnosis of purpura
-
Hoffman R, Benz EJ, and Shattil S, editors Philadelphia, PA: Elsevier
-
Coller B, Schneiderman P. Clinical evaluation of hemorrhagic disorders: The bleeding history and differential diagnosis of purpura. In: Hoffman R, Benz EJ, and Shattil S, editors. Hematology: Basic Principles and Practice. Philadelphia, PA: Elsevier; 1991. pp 1252-1266.
-
(1991)
Hematology: Basic Principles and Practice
, pp. 1252-1266
-
-
Coller, B.1
Schneiderman, P.2
-
5
-
-
29244439008
-
The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: An international, multicenter study
-
Rodeghiero F, Castaman G, Tosetto A, Batlle J, Baudo F, Cappelletti A, Casana P, De Bosch N, Eikenboom JC, Federici AB, et al. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: An international, multicenter study. J Thromb Haemost 2005;3: 2619-2626.
-
(2005)
J Thromb Haemost
, vol.3
, pp. 2619-2626
-
-
Rodeghiero, F.1
Castaman, G.2
Tosetto, A.3
Batlle, J.4
Baudo, F.5
Cappelletti, A.6
Casana, P.7
De Bosch, N.8
Eikenboom, J.C.9
Federici, A.B.10
-
6
-
-
36349021373
-
Usefulness of PFA-100 testing in the diagnostic screening of patients with suspected abnormalities of hemostasis: Comparison with the bleeding time
-
Podda GM, Bucciarelli P, Lussana F, Lecchi A, Cattaneo M. Usefulness of PFA-100 testing in the diagnostic screening of patients with suspected abnormalities of hemostasis: Comparison with the bleeding time. J Thromb Haemost 2007;5:2393-2398.
-
(2007)
J Thromb Haemost
, vol.5
, pp. 2393-2398
-
-
Podda, G.M.1
Bucciarelli, P.2
Lussana, F.3
Lecchi, A.4
Cattaneo, M.5
-
7
-
-
70249101426
-
Results of a worldwide survey on the assessment of platelet function by light transmission aggregometry: A report from the platelet physiology subcommittee of the SSC of the ISTH
-
Cattaneo M, Hayward CPM, Moffat KA, Pugliano MT, Liu Y, Michelson AD. Results of a worldwide survey on the assessment of platelet function by light transmission aggregometry: A report from the platelet physiology subcommittee of the SSC of the ISTH. J Thromb Haemost 2009;7:1029-1029.
-
(2009)
J Thromb Haemost
, vol.7
, pp. 1029-1029
-
-
Cattaneo, M.1
Cpm, H.2
Moffat, K.A.3
Pugliano, M.T.4
Liu, Y.5
Michelson, A.D.6
-
8
-
-
21844466265
-
Use of native or platelet count adjusted platelet rich plasma for platelet aggregation measurements
-
Mani H, Luxembourg B, Klaffling C, Erbe M, Lindhoff-Last E. Use of native or platelet count adjusted platelet rich plasma for platelet aggregation measurements. J Clin Pathol 2005;58:747-750.
-
(2005)
J Clin Pathol
, vol.58
, pp. 747-750
-
-
Mani, H.1
Luxembourg, B.2
Klaffling, C.3
Erbe, M.4
Lindhoff-Last, E.5
-
9
-
-
40949119392
-
Standardization of light transmittance aggregometry for monitoring antiplatelet therapy: An adjustment for platelet count is not necessary
-
Linnemann B, Schwonberg J, Mani H, Prochnow S, Lindhoff-Last E. Standardization of light transmittance aggregometry for monitoring antiplatelet therapy: An adjustment for platelet count is not necessary. J Thromb Haemost 2008;6:677-683.
-
(2008)
J Thromb Haemost
, vol.6
, pp. 677-683
-
-
Linnemann, B.1
Schwonberg, J.2
Mani, H.3
Prochnow, S.4
Lindhoff-Last, E.5
-
10
-
-
34447297883
-
Platelet aggregation studies: Autologous platelet-poor plasma inhibits platelet aggregation when added to platelet-rich plasma to normalize platelet count
-
Cattaneo M, Lecchi A, Zighetti ML, Lussana F. Platelet aggregation studies: Autologous platelet-poor plasma inhibits platelet aggregation when added to platelet-rich plasma to normalize platelet count. Haematologica 2007;92:694-697.
-
(2007)
Haematologica
, vol.92
, pp. 694-697
-
-
Cattaneo, M.1
Lecchi, A.2
Zighetti, M.L.3
Lussana, F.4
-
11
-
-
63149194068
-
Light transmission aggregometry and ATP release for the diagnostic assessment of platelet function
-
Cattaneo M. Light transmission aggregometry and ATP release for the diagnostic assessment of platelet function. Semin Thromb Hemost 2009;35:158,167.
-
(2009)
Semin Thromb Hemost
, vol.35
, Issue.158
, pp. 167
-
-
Cattaneo, M.1
-
12
-
-
80053183746
-
A prospective cohort study of light transmission platelet aggregometry for bleeding disorders: Is testing native platelet-rich plasma non-inferior to testing platelet count adjusted samples?
-
Castilloux JF, Moffat KA, Liu Y, Seecharan J, Pai M, Hayward CP. A prospective cohort study of light transmission platelet aggregometry for bleeding disorders: Is testing native platelet-rich plasma non-inferior to testing platelet count adjusted samples? Thromb Haemost 2011;106:675-682.
-
(2011)
Thromb Haemost
, vol.106
, pp. 675-682
-
-
Castilloux, J.F.1
Moffat, K.A.2
Liu, Y.3
Seecharan, J.4
Pai, M.5
Hayward, C.P.6
-
13
-
-
0023608663
-
Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: Studies on one hundred six patients
-
Nieuwenhuis HK, Akkerman JW, Sixma JJ. Patients with a prolonged bleeding time and normal aggregation tests may have storage pool deficiency: Studies on one hundred six patients. Blood 1987;70:620-623.
-
(1987)
Blood
, vol.70
, pp. 620-623
-
-
Nieuwenhuis, H.K.1
Akkerman, J.W.2
Sixma, J.J.3
-
14
-
-
84859322306
-
Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder
-
Hayward CP, Moffat KA, Castilloux JF, Liu Y, Seecharan J, Tasneem S, Carlino S, Cormier A, Rivard GE. Simultaneous measurement of adenosine triphosphate release and aggregation potentiates human platelet aggregation responses for some subjects, including persons with Quebec platelet disorder. Thromb Haemost 2012;107:726-34.
-
(2012)
Thromb Haemost
, vol.107
, pp. 726-734
-
-
Hayward, C.P.1
Moffat, K.A.2
Castilloux, J.F.3
Liu, Y.4
Seecharan, J.5
Tasneem, S.6
Carlino, S.7
Cormier, A.8
Rivard, G.E.9
-
15
-
-
33644847306
-
Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura
-
Kunishima S, Imai T, Hamaguchi M, Saito H. Novel heterozygous missense mutation in the second leucine rich repeat of GPIbalpha affects GPIb/IX/V expression and results in macrothrombocytopenia in a patient initially misdiagnosed with idiopathic thrombocytopenic purpura. Eur J Haematol 2006; 76:348-355.
-
(2006)
Eur J Haematol
, vol.76
, pp. 348-355
-
-
Kunishima, S.1
Imai, T.2
Hamaguchi, M.3
Saito, H.4
-
16
-
-
0026595653
-
Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease
-
Miller JL, Lyle VA, Cunningham D. Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. Blood 1992;79:439-446.
-
(1992)
Blood
, vol.79
, pp. 439-446
-
-
Miller, J.L.1
Lyle, V.A.2
Cunningham, D.3
-
17
-
-
55549095626
-
Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: The N41H variant
-
Vettore S, Scandellari R, Moro S, Lombardi AM, Scapin M, Randi ML, Fabris F. Novel point mutation in a leucine-rich repeat of the GPIbalpha chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: The N41H variant. Haematologica 2008;93:1743-1747.
-
(2008)
Haematologica
, vol.93
, pp. 1743-1747
-
-
Vettore, S.1
Scandellari, R.2
Moro, S.3
Lombardi, A.M.4
Scapin, M.5
Randi, M.L.6
Fabris, F.7
-
18
-
-
59849107667
-
Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano
-
Balduini A, Malara A, Pecci A, Badalucco S, Bozzi V, Pallotta I, Noris P, Torti M, Balduini CL. Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. J Thromb Haemost 2009;7:478-484.
-
(2009)
J Thromb Haemost
, vol.7
, pp. 478-484
-
-
Balduini, A.1
Malara, A.2
Pecci, A.3
Badalucco, S.4
Bozzi, V.5
Pallotta, I.6
Noris, P.7
Torti, M.8
Balduini, C.L.9
-
20
-
-
38549092555
-
Platelet-type von Willebrand disease and type 2B von Willebrand disease: A story of nonidentical twins when two different genetic abnormalities evolve into similar phenotypes
-
Othman M. Platelet-type von Willebrand disease and type 2B von Willebrand disease: A story of nonidentical twins when two different genetic abnormalities evolve into similar phenotypes. Semin Thromb Hemost 2007;33:780-786.
-
(2007)
Semin Thromb Hemost
, vol.33
, pp. 780-786
-
-
Othman, M.1
-
21
-
-
84874418465
-
-
Bolton-Maggs P, Chalmers E, Collins P, Harrison P, Kitchen S, Liesner RJ, Minford A, Mumford AD, Parapia LA, Perry DJ, et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO, 2006.
-
(2006)
A Review of Inherited Platelet Disorders with Guidelines for Their Management on Behalf of the UKHCDO
-
-
Bolton-Maggs, P.1
Chalmers, E.2
Collins, P.3
Harrison, P.4
Kitchen, S.5
Liesner, R.J.6
Minford, A.7
Mumford, A.D.8
Parapia, L.A.9
Perry, D.J.10
-
22
-
-
33750546250
-
A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO
-
Bolton-Maggs PHB, Chalmers EA, Collins PW, Harrison P, Kitchen S, Liesner RJ, Minford A, Mumford AD, Parapia LA, Perry DJ, et al. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Brit J Haemat 2006;135:603-633.
-
(2006)
Brit J Haemat
, vol.135
, pp. 603-633
-
-
Bolton-Maggs, P.H.B.1
Chalmers, E.A.2
Collins, P.W.3
Harrison, P.4
Kitchen, S.5
Liesner, R.J.6
Minford, A.7
Mumford, A.D.8
Parapia, L.A.9
Perry, D.J.10
-
23
-
-
84884811639
-
Platelet aggregation
-
Michelson A, editor San Diego, CA: Elsevier
-
Jennings LK, McCabe White M. Platelet aggregation. In: Michelson A, editor. Platelets. San Diego, CA: Elsevier; 2006. pp 495-508.
-
(2006)
Platelets
, pp. 495-508
-
-
Jennings, L.K.1
McCabe White, M.2
-
24
-
-
0032828086
-
The platelet collagen receptor glycoprotein VI is a member of the immunoglobulin superfamily closely related to FcalphaR and the natural killer receptors
-
Clemetson JM, Polgar J, Magnenat E, Wells TN, Clemetson KJ. The platelet collagen receptor glycoprotein VI is a member of the immunoglobulin superfamily closely related to FcalphaR and the natural killer receptors. J Biol Chem 1999;274: 29019-29024.
-
(1999)
J Biol Chem
, vol.274
, pp. 29019-29024
-
-
Clemetson, J.M.1
Polgar, J.2
Magnenat, E.3
Wells, T.N.4
Clemetson, K.J.5
-
25
-
-
78049387105
-
Differentially regulated GPVI ectodomain shedding by multiple platelet-expressed proteinases
-
Bender M, Hofmann S, Stegner D, Chalaris A, Bosl M, Braun A, Scheller J, Rose-John S, Nieswandt B. Differentially regulated GPVI ectodomain shedding by multiple platelet-expressed proteinases. Blood 2010;116:3347-3355.
-
(2010)
Blood
, vol.116
, pp. 3347-3355
-
-
Bender, M.1
Hofmann, S.2
Stegner, D.3
Chalaris, A.4
Bosl, M.5
Braun, A.6
Scheller, J.7
Rose-John, S.8
Nieswandt, B.9
-
26
-
-
18544384397
-
Thrombopoietin initiates demethylation-based transcription of GP6 during megakaryocyte differentiation
-
Kanaji S, Kanaji T, Jacquelin B, Chang M, Nugent DJ, Komatsu N, Moroi M, Izuhara K, Kunicki TJ. Thrombopoietin initiates demethylation-based transcription of GP6 during megakaryocyte differentiation. Blood 2005;105:3888-3892.
-
(2005)
Blood
, vol.105
, pp. 3888-3892
-
-
Kanaji, S.1
Kanaji, T.2
Jacquelin, B.3
Chang, M.4
Nugent, D.J.5
Komatsu, N.6
Moroi, M.7
Izuhara, K.8
Kunicki, T.J.9
-
27
-
-
77957935532
-
The genetics of normal platelet reactivity
-
Kunicki TJ, Nugent DJ. The genetics of normal platelet reactivity. Blood 2010;116:2627-2634.
-
(2010)
Blood
, vol.116
, pp. 2627-2634
-
-
Kunicki, T.J.1
Nugent, D.J.2
-
28
-
-
33646812887
-
Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms
-
Watkins NA, O'Connor MN, Rankin A, Jennings N, Wilson E, Harmer IJ, Davies L, Smethurst PA, Dudbridge F, Farndale RW, et al. Definition of novel GP6 polymorphisms and major difference in haplotype frequencies between populations by a combination of in-depth exon resequencing and genotyping with tag single nucleotide polymorphisms. J Thromb Haemost 2006;4:1197-1205.
-
(2006)
J Thromb Haemost
, vol.4
, pp. 1197-1205
-
-
Watkins, N.A.1
O'Connor, M.N.2
Rankin, A.3
Jennings, N.4
Wilson, E.5
Harmer, I.J.6
Davies, L.7
Smethurst, P.A.8
Dudbridge, F.9
Farndale, R.W.10
-
29
-
-
70349263950
-
Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations
-
Dumont B, Lasne D, Rothschild C, Bouabdelli M, Ollivier V, Oudin C, Ajzenberg N, Grandchamp B, Jandrot-Perrus M. Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. Blood 2009; 114:1900-1903.
-
(2009)
Blood
, vol.114
, pp. 1900-1903
-
-
Dumont, B.1
Lasne, D.2
Rothschild, C.3
Bouabdelli, M.4
Ollivier, V.5
Oudin, C.6
Ajzenberg, N.7
Grandchamp, B.8
Jandrot-Perrus, M.9
-
30
-
-
67949091190
-
A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder
-
Hermans C, Wittevrongel C, Thys C, Smethurst PA, Van Geet C, Freson K. A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. J Thromb Haemost 2009; 7:1356-1363.
-
(2009)
J Thromb Haemost
, vol.7
, pp. 1356-1363
-
-
Hermans, C.1
Wittevrongel, C.2
Thys, C.3
Smethurst, P.A.4
Van Geet, C.5
Freson, K.6
-
31
-
-
0141923911
-
GPVI levels in platelets: Relationship to platelet function at high shear
-
Best D, Senis YA, Jarvis GE, Eagleton HJ, Roberts DJ, Saito T, Jung SM, Moroi M, Harrison P, Green FR, et al. GPVI levels in platelets: Relationship to platelet function at high shear. Blood 2003;102:2811-2818.
-
(2003)
Blood
, vol.102
, pp. 2811-2818
-
-
Best, D.1
Senis, Y.A.2
Jarvis, G.E.3
Eagleton, H.J.4
Roberts, D.J.5
Saito, T.6
Jung, S.M.7
Moroi, M.8
Harrison, P.9
Green, F.R.10
-
32
-
-
3042839777
-
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome
-
Nurden P, Jandrot-Perrus M, Combrie R, Winckler J, Arocas V, Lecut C, Pasquet JM, Kunicki TJ, Nurden AT. Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. Blood 2004;104:107-114.
-
(2004)
Blood
, vol.104
, pp. 107-114
-
-
Nurden, P.1
Jandrot-Perrus, M.2
Combrie, R.3
Winckler, J.4
Arocas, V.5
Lecut, C.6
Pasquet, J.M.7
Kunicki, T.J.8
Nurden, A.T.9
-
33
-
-
0023897855
-
Deficiency of intact thrombospondin and membrane glycoprotein Ia in platelets with defective collagen-induced aggregation and spontaneous loss of disorder
-
Kehrel B, Balleisen L, Kokott R, Mesters R, Stenzinger W, Clemetson KJ, van de Loo J. Deficiency of intact thrombospondin and membrane glycoprotein Ia in platelets with defective collagen-induced aggregation and spontaneous loss of disorder. Blood 1988;71:1074-1078.
-
(1988)
Blood
, vol.71
, pp. 1074-1078
-
-
Kehrel, B.1
Balleisen, L.2
Kokott, R.3
Mesters, R.4
Stenzinger, W.5
Clemetson, K.J.6
Van De Loo, J.7
-
34
-
-
0022536502
-
Deficiency of platelet membrane glycoprotein Ia associated with a decreased platelet adhesion to subendothelium: A defect in platelet spreading
-
Nieuwenhuis HK, Sakariassen KS, Houdijk WP, Nievelstein PF, Sixma JJ. Deficiency of platelet membrane glycoprotein Ia associated with a decreased platelet adhesion to subendothelium: A defect in platelet spreading. Blood 1986;68:692-695.
-
(1986)
Blood
, vol.68
, pp. 692-695
-
-
Nieuwenhuis, H.K.1
Sakariassen, K.S.2
Houdijk, W.P.3
Nievelstein, P.F.4
Sixma, J.J.5
-
35
-
-
79960978263
-
Bleeding manifestations of congenital and druginduced defects of the platelet P2Y12 receptor for adenosine diphosphate
-
Cattaneo M. Bleeding manifestations of congenital and druginduced defects of the platelet P2Y12 receptor for adenosine diphosphate. Thromb Haemost 2011;105(Suppl 1):S67-74.
-
(2011)
Thromb Haemost
, vol.105
, Issue.SUPPL. 1
-
-
Cattaneo, M.1
-
36
-
-
78649371969
-
Usefulness of a flow cytometric analysis of intraplatelet vasodilator-stimulated phosphoprotein phosphorylation for the detection of patients with genetic defects of the platelet P2Y(12) receptor for ADP
-
Zighetti ML, Carpani G, Sinigaglia E, Cattaneo M. Usefulness of a flow cytometric analysis of intraplatelet vasodilator-stimulated phosphoprotein phosphorylation for the detection of patients with genetic defects of the platelet P2Y(12) receptor for ADP. J Thromb Haemost 2010;8:2332-2334.
-
(2010)
J Thromb Haemost
, vol.8
, pp. 2332-2334
-
-
Zighetti, M.L.1
Carpani, G.2
Sinigaglia, E.3
Cattaneo, M.4
-
37
-
-
0028170151
-
Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder
-
Hirata T, Kakizuka A, Ushikubi F, Fuse I, Okuma M, Narumiya S. Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. J Clin Invest 1994;94:1662-1667.
-
(1994)
J Clin Invest
, vol.94
, pp. 1662-1667
-
-
Hirata, T.1
Kakizuka, A.2
Ushikubi, F.3
Fuse, I.4
Okuma, M.5
Narumiya, S.6
-
38
-
-
0029664751
-
Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation
-
Hirata T, Ushikubi F, Kakizuka A, Okuma M, Narumiya S. Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation. J Clin Invest 1996;97:949-956.
-
(1996)
J Clin Invest
, vol.97
, pp. 949-956
-
-
Hirata, T.1
Ushikubi, F.2
Kakizuka, A.3
Okuma, M.4
Narumiya, S.5
-
39
-
-
0030010009
-
Molecular characterization of a dominantly inherited bleeding disorder with impaired platelet responses to thromboxane A2
-
Okuma M, Hirata T, Ushikubi F, Kakizuka A, Narumiya S. Molecular characterization of a dominantly inherited bleeding disorder with impaired platelet responses to thromboxane A2. Pol J Pharmacol 1996;48:77-82.
-
(1996)
Pol J Pharmacol
, vol.48
, pp. 77-82
-
-
Okuma, M.1
Hirata, T.2
Ushikubi, F.3
Kakizuka, A.4
Narumiya, S.5
-
40
-
-
0002764492
-
Congenital disorders of platelet secretion
-
Gresele P, Page C, Fuster V, and Vermylen J, editors Cambridge: Cambridge University Press
-
Cattaneo M. Congenital disorders of platelet secretion. In: Gresele P, Page C, Fuster V, and Vermylen J, editors. Platelets in thrombotic and non-thrombotic disorders. Vol. 43. Cambridge: Cambridge University Press; 2002. pp 655-673.
-
(2002)
Platelets in Thrombotic and Non-thrombotic Disorders
, vol.43
, pp. 655-673
-
-
Cattaneo, M.1
-
41
-
-
84866979163
-
-
Jedlitschky G, Cattaneo M, Lubenow L, Rosskopf D, Lecchi A, Artoni A, Motta G, Niessen J, Kroemer H, Greinacher A. Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: Evidence from patients with delta-storage pool deficiencies, 2010.
-
(2010)
Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: Evidence from patients with delta-storage pool deficiencies
-
-
Jedlitschky, G.1
Cattaneo, M.2
Lubenow, L.3
Rosskopf, D.4
Lecchi, A.5
Artoni, A.6
Motta, G.7
Niessen, J.8
Kroemer, H.9
Greinacher, A.10
-
42
-
-
0018552068
-
Secretable storage pools in platelets
-
Holmsen H, Weiss HJ. Secretable storage pools in platelets. Annu Rev Med 1979;30:119-134.
-
(1979)
Annu Rev Med
, vol.30
, pp. 119-134
-
-
Holmsen, H.1
Weiss, H.J.2
-
43
-
-
0028923424
-
Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometry
-
Gordon N, Thom J, Cole C, Baker R. Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometry. Br J Haematol 1995;89:117-123.
-
(1995)
Br J Haematol
, vol.89
, pp. 117-123
-
-
Gordon, N.1
Thom, J.2
Cole, C.3
Baker, R.4
-
44
-
-
65349119902
-
On behalf of the NWGoPDGD: Results of an external proficiency testing exercise on platelet dense-granule deficiency testing by whole mount electron microscopy
-
Hayward CPM, Moffat KA, Spitzer E, Timleck M, Plumhoff E, Israels SJ, White J. On behalf of the NWGoPDGD: Results of an external proficiency testing exercise on platelet dense-granule deficiency testing by whole mount electron microscopy. Am J Clin Pathol 2009; 131:671-675.
-
(2009)
Am J Clin Pathol
, vol.131
, pp. 671-675
-
-
Cpm, H.1
Moffat, K.A.2
Spitzer, E.3
Timleck, M.4
Plumhoff, E.5
Israels, S.J.6
White, J.7
-
45
-
-
0015293166
-
Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopathia-"storage pool disease"
-
Holmsen H, Weiss HJ. Further evidence for a deficient storage pool of adenine nucleotides in platelets from some patients with thrombocytopathia- "storage pool disease". Blood 1972;39:197-209.
-
(1972)
Blood
, vol.39
, pp. 197-209
-
-
Holmsen, H.1
Weiss, H.J.2
-
46
-
-
28344439804
-
Qualitative disorders of platelets and megakaryocytes
-
Nurden AT. Qualitative disorders of platelets and megakaryocytes. J Thromb Haemost 2005;3:1773-1782.
-
(2005)
J Thromb Haemost
, vol.3
, pp. 1773-1782
-
-
Nurden, A.T.1
-
47
-
-
0032729471
-
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
-
Introne W, Boissy RE, Gahl WA. Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. Mol Genet Metab 1999;68:283-303.
-
(1999)
Mol Genet Metab
, vol.68
, pp. 283-303
-
-
Introne, W.1
Boissy, R.E.2
Gahl, W.A.3
-
48
-
-
0030293556
-
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
-
Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault Jr BJ, Perou CM, Boissy RE, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet 1996;14:307-311.
-
(1996)
Nat Genet
, vol.14
, pp. 307-311
-
-
Nagle, D.L.1
Karim, M.A.2
Woolf, E.A.3
Holmgren, L.4
Bork, P.5
Misumi, D.J.6
McGrail, S.H.7
Dussault Jr., B.J.8
Perou, C.M.9
Boissy, R.E.10
-
49
-
-
84874447467
-
-
Gröttum K, Hovig T, Holmsen H, Abrahamsen A, Jeremic M, Seip M. Wiskott-Aldrich syndrome: Qualitative platelet defects and short platelet survival, 1969.
-
(1969)
Wiskott-Aldrich Syndrome: Qualitative Platelet Defects and Short Platelet Survival
-
-
Gröttum, K.1
Hovig, T.2
Holmsen, H.3
Abrahamsen, A.4
Jeremic, M.5
Seip, M.6
-
50
-
-
0029988146
-
Defects in Wiskott-Aldrich syndrome blood cells
-
Remold-O'Donnell E, Rosen FS, Kenney DM. Defects in Wiskott-Aldrich syndrome blood cells. Blood 1996; 87:2621-2631.
-
(1996)
Blood
, vol.87
, pp. 2621-2631
-
-
Remold-O'Donnell, E.1
Rosen, F.S.2
Kenney, D.M.3
-
51
-
-
84862258551
-
Deficiency of the Y14 protein is a critical factor underlying the etiology of thrombocytopenia with absent radii syndrome
-
Jan A. Deficiency of the Y14 protein is a critical factor underlying the etiology of thrombocytopenia with absent radii syndrome. Clin Genet 2012;82:29-30.
-
(2012)
Clin Genet
, vol.82
, pp. 29-30
-
-
Jan, A.1
-
52
-
-
84863393160
-
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
-
Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet 2012;44:435-439.
-
(2012)
Nat Genet
, vol.44
, pp. 435-439
-
-
Albers, C.A.1
Paul, D.S.2
Schulze, H.3
Freson, K.4
Stephens, J.C.5
Smethurst, P.A.6
Jolley, J.D.7
Cvejic, A.8
Kostadima, M.9
Bertone, P.10
-
54
-
-
84866389112
-
Molecular basis of Wiskott-Aldrich syndrome in patients from India
-
Jun 9 doi: 10.1111/j.1600. 06092012. 01818.x-[Epub ahead of print]
-
David S, Jayandharan GR, Abraham A, Jacob RR, Devi GS, Patkar N, Shaji RV, Nair SC, Viswabandya A, Ahmed R, George B, Mathews V, Chandy M, Srivastava A. Molecular basis of Wiskott-Aldrich syndrome in patients from India. Eur J Haematol 2012 Jun 9, doi: 10.1111/j.1600 0609.2012.01818.x. [Epub ahead of print].
-
(2012)
Eur J Haematol
-
-
David, S.1
Jayandharan, G.R.2
Abraham, A.3
Jacob, R.R.4
Devi, G.S.5
Patkar, N.6
Shaji, R.V.7
Nair, S.C.8
Viswabandya, A.9
Ahmed, R.10
George, B.11
Mathews, V.12
Chandy, M.13
Srivastava, A.14
-
55
-
-
3543104443
-
Confirming or excluding the diagnosis of Wiskott-Aldrich syndrome in children with thrombocytopenia of an unknown etiology
-
Ariga T, Nakajima M, Yoshida J, Yamato K, Nagatoshi Y, Yanai F, Caviles AP, Nelson DL, Sakiyama Y. Confirming or excluding the diagnosis of Wiskott-Aldrich syndrome in children with thrombocytopenia of an unknown etiology. J Pediatr Hematol Oncol 2004;26:435-440.
-
(2004)
J Pediatr Hematol Oncol
, vol.26
, pp. 435-440
-
-
Ariga, T.1
Nakajima, M.2
Yoshida, J.3
Yamato, K.4
Nagatoshi, Y.5
Yanai, F.6
Caviles, A.P.7
Nelson, D.L.8
Sakiyama, Y.9
-
56
-
-
0019434958
-
Defective alpha-granule production in megakaryocytes from gray platelet syndrome: Ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors
-
Breton-Gorius J, Vainchenker W, Nurden A, Levy-Toledano S, Caen J. Defective alpha-granule production in megakaryocytes from gray platelet syndrome: Ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors. Am J Pathol 1981;102:10-19.
-
(1981)
Am J Pathol
, vol.102
, pp. 10-19
-
-
Breton-Gorius, J.1
Vainchenker, W.2
Nurden, A.3
Levy-Toledano, S.4
Caen, J.5
-
57
-
-
0028304622
-
Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: A case report with review of the literature
-
Jantunen E, Hanninen A, Naukkarinen A, Vornanen M, Lahtinen R. Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: A case report with review of the literature. Am J Hematol 1994;46:218-224.
-
(1994)
Am J Hematol
, vol.46
, pp. 218-224
-
-
Jantunen, E.1
Hanninen, A.2
Naukkarinen, A.3
Vornanen, M.4
Lahtinen, R.5
-
58
-
-
0023064666
-
Megakaryocytes and myelofibrosis in gray platelet syndrome
-
Caen JP, Deschamps JF, Bodevin E, Bryckaert MC, Dupuy E, Wasteson A. Megakaryocytes and myelofibrosis in gray platelet syndrome. Nouv Rev Fr Hematol 1987;29:109-114.
-
(1987)
Nouv Rev Fr Hematol
, vol.29
, pp. 109-114
-
-
Caen, J.P.1
Deschamps, J.F.2
Bodevin, E.3
Bryckaert, M.C.4
Dupuy, E.5
Wasteson, A.6
-
59
-
-
0022377796
-
Gray platelet syndrome: Immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes
-
Cramer EM, Vainchenker W, Vinci G, Guichard J, Breton-Gorius J. Gray platelet syndrome: Immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes. Blood 1985;66:1309-1316.
-
(1985)
Blood
, vol.66
, pp. 1309-1316
-
-
Cramer, E.M.1
Vainchenker, W.2
Vinci, G.3
Guichard, J.4
Breton-Gorius, J.5
-
60
-
-
0027443375
-
Ultrastructural demonstration of CD36 in the alpha-granule membrane of human platelets and megakaryocytes
-
Berger G, Caen JP, Berndt MC, Cramer EM. Ultrastructural demonstration of CD36 in the alpha-granule membrane of human platelets and megakaryocytes. Blood 1993;82:3034-3044.
-
(1993)
Blood
, vol.82
, pp. 3034-3044
-
-
Berger, G.1
Caen, J.P.2
Berndt, M.C.3
Cramer, E.M.4
-
61
-
-
0030065045
-
Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and v
-
Berger G, Masse JM, Cramer EM. Alpha-granule membrane mirrors the platelet plasma membrane and contains the glycoproteins Ib, IX, and V. Blood 1996;87:1385-1395.
-
(1996)
Blood
, vol.87
, pp. 1385-1395
-
-
Berger, G.1
Masse, J.M.2
Cramer, E.M.3
-
62
-
-
0025229045
-
Alpha-granule pool of glycoprotein IIb-IIIa in normal and pathologic platelets and megakaryocytes
-
Cramer EM, Savidge GF, Vainchenker W, Berndt MC, Pidard D, Caen JP, Masse JM, Breton-Gorius J. Alpha-granule pool of glycoprotein IIb-IIIa in normal and pathologic platelets and megakaryocytes. Blood 1990;75:1220-1227.
-
(1990)
Blood
, vol.75
, pp. 1220-1227
-
-
Cramer, E.M.1
Savidge, G.F.2
Vainchenker, W.3
Berndt, M.C.4
Pidard, D.5
Caen, J.P.6
Masse, J.M.7
Breton-Gorius, J.8
-
63
-
-
0023574858
-
Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface
-
Rosa JP, George JN, Bainton DF, Nurden AT, Caen JP, McEver RP. Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface. J Clin Invest 1987;80:1138-1146.
-
(1987)
J Clin Invest
, vol.80
, pp. 1138-1146
-
-
Rosa, J.P.1
George, J.N.2
Bainton, D.F.3
Nurden, A.T.4
Caen, J.P.5
McEver, R.P.6
-
64
-
-
28744442588
-
Neutrophil secretory defect in the gray platelet syndrome: A new case
-
Chedani H, Dupuy E, Masse JM, Cramer EM. Neutrophil secretory defect in the gray platelet syndrome: A new case. Platelets 2006;17:14-19.
-
(2006)
Platelets
, vol.17
, pp. 14-19
-
-
Chedani, H.1
Dupuy, E.2
Masse, J.M.3
Cramer, E.M.4
-
65
-
-
0035469816
-
Newly recognized cellular abnormalities in the gray platelet syndrome
-
Drouin A, Favier R, Masse JM, Debili N, Schmitt A, Elbim C, Guichard J, Adam M, Gougerot-Pocidalo MA, Cramer EM. Newly recognized cellular abnormalities in the gray platelet syndrome. Blood 2001;98:1382-1391.
-
(2001)
Blood
, vol.98
, pp. 1382-1391
-
-
Drouin, A.1
Favier, R.2
Masse, J.M.3
Debili, N.4
Schmitt, A.5
Elbim, C.6
Guichard, J.7
Adam, M.8
Gougerot-Pocidalo, M.A.9
Cramer, E.M.10
-
66
-
-
0015176866
-
Gray platelet syndrome: A variety of qualitative platelet disorder
-
Raccuglia G. Gray platelet syndrome: A variety of qualitative platelet disorder. Am J Med 1971;51:818-828.
-
(1971)
Am J Med
, vol.51
, pp. 818-828
-
-
Raccuglia, G.1
-
67
-
-
34247600608
-
Defective platelet responsiveness to thrombin and proteaseactivated receptors agonists in a novel case of gray platelet syndrome: Correlation between the platelet defect and the alphagranule content in the patient and four relatives
-
De Candia E, Pecci A, Ciabattoni G, De Cristofaro R, Rutella S, Yao-Wu Z, Lazzareschi I, Landolfi R, Coughlin S, Balduini C. Defective platelet responsiveness to thrombin and proteaseactivated receptors agonists in a novel case of gray platelet syndrome: Correlation between the platelet defect and the alphagranule content in the patient and four relatives. J Thromb Haemost 2007;5:551-559.
-
(2007)
J Thromb Haemost
, vol.5
, pp. 551-559
-
-
De Candia, E.1
Pecci, A.2
Ciabattoni, G.3
De Cristofaro, R.4
Rutella, S.5
Yao-Wu, Z.6
Lazzareschi, I.7
Landolfi, R.8
Coughlin, S.9
Balduini, C.10
-
68
-
-
78649744166
-
Gray platelet syndrome: Natural history of a large patient cohort and locus assignment to chromosome 3p
-
Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, Geiger D, Cetin M, Khayat M, Kleta R, Kfir N, Anikster Y, Chezar J, et al. Gray platelet syndrome: Natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 2010;116: 4990-5001.
-
(2010)
Blood
, vol.116
, pp. 4990-5001
-
-
Gunay-Aygun, M.1
Zivony-Elboum, Y.2
Gumruk, F.3
Geiger, D.4
Cetin, M.5
Khayat, M.6
Kleta, R.7
Kfir, N.8
Anikster, Y.9
Chezar, J.10
-
69
-
-
0021748223
-
Electron microscopic and functional studies on platelets in gray platelet syndrome
-
Mori K, Suzuki S, Sugai K. Electron microscopic and functional studies on platelets in gray platelet syndrome. Tohoku J Exp Med 1984;143:261-287.
-
(1984)
Tohoku J Exp Med
, vol.143
, pp. 261-287
-
-
Mori, K.1
Suzuki, S.2
Sugai, K.3
-
70
-
-
33846201270
-
The gray platelet syndrome: Clinical spectrum of the disease
-
Nurden AT, Nurden P. The gray platelet syndrome: Clinical spectrum of the disease. Blood Rev 2007;21:21-36.
-
(2007)
Blood Rev
, vol.21
, pp. 21-36
-
-
Nurden, A.T.1
Nurden, P.2
-
71
-
-
34147165665
-
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation
-
Tubman VN, Levine JE, Campagna DR, Monahan-Earley R, Dvorak AM, Neufeld EJ, Fleming MD. X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. Blood 2007; 109:3297-3299.
-
(2007)
Blood
, vol.109
, pp. 3297-3299
-
-
Tubman, V.N.1
Levine, J.E.2
Campagna, D.R.3
Monahan-Earley, R.4
Dvorak, A.M.5
Neufeld, E.J.6
Fleming, M.D.7
-
72
-
-
79960895154
-
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
-
Albers CA, Cvejic A, Favier R, Bouwmans EE, Alessi MC, Bertone P, Jordan G, Kettleborough RN, Kiddle G, Kostadima M, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011;43:735-737.
-
(2011)
Nat Genet
, vol.43
, pp. 735-737
-
-
Albers, C.A.1
Cvejic, A.2
Favier, R.3
Bouwmans, E.E.4
Alessi, M.C.5
Bertone, P.6
Jordan, G.7
Kettleborough, R.N.8
Kiddle, G.9
Kostadima, M.10
-
73
-
-
79960921968
-
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules
-
Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, Zivony-Elboum Y, Gumruk F, Cetin M, Khayat M, Boerkoel CF, Kfir N, Huang Y, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. Nat Genet 2011;43:732-734.
-
(2011)
Nat Genet
, vol.43
, pp. 732-734
-
-
Gunay-Aygun, M.1
Falik-Zaccai, T.C.2
Vilboux, T.3
Zivony-Elboum, Y.4
Gumruk, F.5
Cetin, M.6
Khayat, M.7
Boerkoel, C.F.8
Kfir, N.9
Huang, Y.10
-
74
-
-
79960903114
-
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome
-
Kahr WH, Hinckley J, Li L, Schwertz H, Christensen H, Rowley JW, Pluthero FG, Urban D, Fabbro S, Nixon B, et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011;43:738-740.
-
(2011)
Nat Genet
, vol.43
, pp. 738-740
-
-
Kahr, W.H.1
Hinckley, J.2
Li, L.3
Schwertz, H.4
Christensen, H.5
Rowley, J.W.6
Pluthero, F.G.7
Urban, D.8
Fabbro, S.9
Nixon, B.10
-
75
-
-
61849180824
-
Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes
-
Diamandis M, Paterson AD, Rommens JM, Veljkovic DK, Blavignac J, Bulman DE, Waye JS, Derome F, Rivard GE, Hayward CP. Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes. Blood 2009;113:1543-1546.
-
(2009)
Blood
, vol.113
, pp. 1543-1546
-
-
Diamandis, M.1
Paterson, A.D.2
Rommens, J.M.3
Veljkovic, D.K.4
Blavignac, J.5
Bulman, D.E.6
Waye, J.S.7
Derome, F.8
Rivard, G.E.9
Hayward, C.P.10
-
76
-
-
3042705848
-
Bleeding risks associated with inheritance of the Quebec platelet disorder
-
McKay H, Derome F, Haq MA, Whittaker S, Arnold E, Adam F, Heddle NM, Rivard GE, Hayward CP. Bleeding risks associated with inheritance of the Quebec platelet disorder. Blood 2004;104:159-165.
-
(2004)
Blood
, vol.104
, pp. 159-165
-
-
McKay, H.1
Derome, F.2
Haq, M.A.3
Whittaker, S.4
Arnold, E.5
Adam, F.6
Heddle, N.M.7
Rivard, G.E.8
Hayward, C.P.9
-
77
-
-
77949516918
-
Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene
-
Paterson AD, Rommens JM, Bharaj B, Blavignac J, Wong I, Diamandis M, Waye JS, Rivard GE, Hayward CP. Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene. Blood 2010;115: 1264-1266.
-
(2010)
Blood
, vol.115
, pp. 1264-1266
-
-
Paterson, A.D.1
Rommens, J.M.2
Bharaj, B.3
Blavignac, J.4
Wong, I.5
Diamandis, M.6
Waye, J.S.7
Rivard, G.E.8
Hayward, C.P.9
-
78
-
-
0027411863
-
Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency
-
Weiss HJ, Lages B, Vicic W, Tsung LY, White JG. Heterogeneous abnormalities of platelet dense granule ultrastructure in 20 patients with congenital storage pool deficiency. Br J Haematol 1993;83:282-295.
-
(1993)
Br J Haematol
, vol.83
, pp. 282-295
-
-
Weiss, H.J.1
Lages, B.2
Vicic, W.3
Tsung, L.Y.4
White, J.G.5
-
79
-
-
0018673733
-
Heterogeneity in storage pool deficiency: Studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobulin, and platelet-derived growth factor
-
Weiss HJ, Witte LD, Kaplan KL, Lages BA, Chernoff A, Nossel HL, Goodman DS, Baumgartner HR. Heterogeneity in storage pool deficiency: Studies on granule-bound substances in 18 patients including variants deficient in alpha-granules, platelet factor 4, beta-thromboglobulin, and platelet-derived growth factor. Blood 1979;54:1296-1319.
-
(1979)
Blood
, vol.54
, pp. 1296-1319
-
-
Weiss, H.J.1
Witte, L.D.2
Kaplan, K.L.3
Lages, B.A.4
Chernoff, A.5
Nossel, H.L.6
Goodman, D.S.7
Baumgartner, H.R.8
-
80
-
-
0021024783
-
Evidence that platelet alpha-granules are a major determinant of platelet density: Studies in storage pool deficiency
-
Vicic WJ, Weiss HJ. Evidence that platelet alpha-granules are a major determinant of platelet density: Studies in storage pool deficiency. Thromb Haemost 1983;50:878-880.
-
(1983)
Thromb Haemost
, vol.50
, pp. 878-880
-
-
Vicic, W.J.1
Weiss, H.J.2
-
81
-
-
0005396082
-
Physiological role of an endoperoxide in human platelets: Hemostatic defect due to platelet cyclo-oxygenase deficiency
-
Malmsten C, Hamberg M, Svensson J, Samuelsson B. Physiological role of an endoperoxide in human platelets: Hemostatic defect due to platelet cyclo-oxygenase deficiency. Proc Natl Acad Sci USA 1975;72:1446-1450.
-
(1975)
Proc Natl Acad Sci USA
, vol.72
, pp. 1446-1450
-
-
Malmsten, C.1
Hamberg, M.2
Svensson, J.3
Samuelsson, B.4
-
82
-
-
0030067691
-
Bleeding disorder due to platelet prostaglandin H synthase-1 (PGHS-1) deficiency
-
MatijevicAleksic N, McPhedran P, Wu KK. Bleeding disorder due to platelet prostaglandin H synthase-1 (PGHS-1) deficiency. Brit J Haematol 1996;92:212-217.
-
(1996)
Brit J Haematol
, vol.92
, pp. 212-217
-
-
Matijevicaleksic, N.1
McPhedran, P.2
Wu, K.K.3
-
83
-
-
75149165155
-
Clinical and laboratory phenotype associated with the aspirin-like defect
-
Dragani A, Brancati F, Pascale S, Mattoscio D, Rocca B. Clinical and laboratory phenotype associated with the aspirin-like defect. Brit J Haematol 2010;148:661-663.
-
(2010)
Brit J Haematol
, vol.148
, pp. 661-663
-
-
Dragani, A.1
Brancati, F.2
Pascale, S.3
Mattoscio, D.4
Rocca, B.5
-
84
-
-
75149135588
-
Clinical and laboratory phenotype associated with the aspirin-like defect-response to Dragani et al
-
Knoefler R, Bugert P, Rolf N, Suttorp M. Clinical and laboratory phenotype associated with the aspirin-like defect-response to Dragani et al. Brit J Haematol 2010;148:663-664.
-
(2010)
Brit J Haematol
, vol.148
, pp. 663-664
-
-
Knoefler, R.1
Bugert, P.2
Rolf, N.3
Suttorp, M.4
-
85
-
-
0027999286
-
Scott syndrome: A disorder of platelet coagulant activity
-
Weiss HJ. Scott syndrome: A disorder of platelet coagulant activity. Semin Hematol 1994;31:312-319.
-
(1994)
Semin Hematol
, vol.31
, pp. 312-319
-
-
Weiss, H.J.1
-
86
-
-
0018765862
-
Isolated deficiency of platelet procoagulant activity
-
Weiss HJ, Vicic WJ, Lages BA, Rogers J. Isolated deficiency of platelet procoagulant activity. Am J Med 1979;67:206-213.
-
(1979)
Am J Med
, vol.67
, pp. 206-213
-
-
Weiss, H.J.1
Vicic, W.J.2
Lages, B.A.3
Rogers, J.4
-
87
-
-
0030059544
-
Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder
-
Toti F, Satta N, Fressinaud E, Meyer D, Freyssinet JM. Scott syndrome, characterized by impaired transmembrane migration of procoagulant phosphatidylserine and hemorrhagic complications, is an inherited disorder. Blood 1996;87:1409-1415.
-
(1996)
Blood
, vol.87
, pp. 1409-1415
-
-
Toti, F.1
Satta, N.2
Fressinaud, E.3
Meyer, D.4
Freyssinet, J.M.5
-
88
-
-
0037391960
-
Store-mediated calcium entry in the regulation of phosphatidylserine exposure in blood cells from Scott patients
-
Munnix IC, Harmsma M, Giddings JC, Collins PW, Feijge MA, Comfurius P, Heemskerk JW, Bevers EM. Store-mediated calcium entry in the regulation of phosphatidylserine exposure in blood cells from Scott patients. Thromb Haemost 2003;89: 687-695.
-
(2003)
Thromb Haemost
, vol.89
, pp. 687-695
-
-
Munnix, I.C.1
Harmsma, M.2
Giddings, J.C.3
Collins, P.W.4
Feijge, M.A.5
Comfurius, P.6
Heemskerk, J.W.7
Bevers, E.M.8
-
89
-
-
22144479426
-
A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome
-
Albrecht C, McVey JH, Elliott JI, Sardini A, Kasza I, Mumford AD, Naoumova RP, Tuddenham EG, Szabo K, Higgins CF. A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome. Blood 2005;106: 542-549.
-
(2005)
Blood
, vol.106
, pp. 542-549
-
-
Albrecht, C.1
McVey, J.H.2
Elliott, J.I.3
Sardini, A.4
Kasza, I.5
Mumford, A.D.6
Naoumova, R.P.7
Tuddenham, E.G.8
Szabo, K.9
Higgins, C.F.10
-
90
-
-
80053429773
-
Platelet membrane phospholipid asymmetry: From the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome
-
Lhermusier T, Chap H, Payrastre B. Platelet membrane phospholipid asymmetry: From the characterization of a scramblase activity to the identification of an essential protein mutated in Scott syndrome. J Thromb Haemost 2011;9:1883-1891.
-
(2011)
J Thromb Haemost
, vol.9
, pp. 1883-1891
-
-
Lhermusier, T.1
Chap, H.2
Payrastre, B.3
-
91
-
-
78650172970
-
Calcium-dependent phospholipid scrambling by TMEM16F
-
Suzuki J, Umeda M, Sims PJ, Nagata S. Calcium-dependent phospholipid scrambling by TMEM16F. Nature 2010;468:834-838.
-
(2010)
Nature
, vol.468
, pp. 834-838
-
-
Suzuki, J.1
Umeda, M.2
Sims, P.J.3
Nagata, S.4
-
92
-
-
79955974150
-
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome
-
Castoldi E, Collins PW, Williamson PL, Bevers EM. Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. Blood 2011;117:4399-4400.
-
(2011)
Blood
, vol.117
, pp. 4399-4400
-
-
Castoldi, E.1
Collins, P.W.2
Williamson, P.L.3
Bevers, E.M.4
-
93
-
-
0034323126
-
Platelets from a patient heterozygous for the defect of P2CYC receptors for ADP have a secretion defect despite normal thromboxane A2 production and normal granule stores: Further evidence that some cases of platelet ';primary secretion defect' are heterozygous for a defect of P2CYC receptors
-
Cattaneo M, Lecchi A, Lombardi R, Gachet C, Zighetti ML. Platelets from a patient heterozygous for the defect of P2CYC receptors for ADP have a secretion defect despite normal thromboxane A2 production and normal granule stores: Further evidence that some cases of platelet ';primary secretion defect' are heterozygous for a defect of P2CYC receptors. Arterioscler Thromb Vasc Biol 2000;20:E101-106.
-
(2000)
Arterioscler Thromb Vasc Biol
, vol.20
-
-
Cattaneo, M.1
Lecchi, A.2
Lombardi, R.3
Gachet, C.4
Zighetti, M.L.5
-
94
-
-
0042808205
-
Inherited defects in platelet signaling mechanisms
-
Rao AK. Inherited defects in platelet signaling mechanisms. J Thromb Haemost 2003;1:671-681.
-
(2003)
J Thromb Haemost
, vol.1
, pp. 671-681
-
-
Rao, A.K.1
-
95
-
-
0021324548
-
Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS)
-
Milton JG, Frojmovic MM, Tang SS, White JG. Spontaneous platelet aggregation in a hereditary giant platelet syndrome (MPS). Am J Pathol 1984;114:336-345.
-
(1984)
Am J Pathol
, vol.114
, pp. 336-345
-
-
Milton, J.G.1
Frojmovic, M.M.2
Tang, S.S.3
White, J.G.4
-
96
-
-
65349156985
-
The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation
-
Jackson SC, Sinclair GD, Cloutier S, Duan Z, Rand ML, Poon MC. The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. Blood 2009;113:3348-3351.
-
(2009)
Blood
, vol.113
, pp. 3348-3351
-
-
Jackson, S.C.1
Sinclair, G.D.2
Cloutier, S.3
Duan, Z.4
Rand, M.L.5
Poon, M.C.6
-
97
-
-
2342486055
-
Phosphoinositide 3-kinases and the regulation of platelet function
-
Jackson SP, Yap CL, Anderson KE. Phosphoinositide 3-kinases and the regulation of platelet function. Biochem Soc Trans 2004; 32:387-392.
-
(2004)
Biochem Soc Trans
, vol.32
, pp. 387-392
-
-
Jackson, S.P.1
Yap, C.L.2
Anderson, K.E.3
-
98
-
-
79960636704
-
Advances in our understanding of the molecular basis of disorders of platelet function
-
Nurden A, Nurden P. Advances in our understanding of the molecular basis of disorders of platelet function. J Thromb Haemost 2011;9(Suppl 1):76-91.
-
(2011)
J Thromb Haemost
, vol.9
, Issue.SUPPL. 1
, pp. 76-91
-
-
Nurden, A.1
Nurden, P.2
-
99
-
-
83755195326
-
Do you know this syndrome?
-
Fantinato GT, Cestari S, Afonso JPJM, Sousa LS. Enokihara MMSS. Do you know this syndrome? Anais Brasileiros de Dermatologia 2011;86:1029-1029.
-
(2011)
Anais Brasileiros de Dermatologia
, vol.86
, pp. 1029-1029
-
-
Fantinato, G.T.1
Cestari, S.2
Afonso, J.P.J.M.3
Sousa, L.S.4
Enokihara, M.M.S.S.5
|