Congenital platelet disorders

Weiss, 1975, Platelet physiology and abnormalities of platelet function, New England Journal of Medicine, 293, 531, 10.1056/NEJM197509112931105 Weiss, 1975, Platelet physiology and abnormalities of platelet function, New England Journal of Medicine, 293, 580, 10.1056/NEJM197509182931204 Bellucci, 1983, Inherited platelet disorders, Progress in Hematology, 13, 223 George, 1984, Molecular defects in interactions of platelets with the vessel wall, New England Journal of Medicine, 104, 1084, 10.1056/NEJM198410253111705 Bernard, 1948, Sur une nouvelle variété de dystrophie thrombocytaire hémorragique congénitale, 97, 3217 Maldonado, 1975, Ultrastructure of platelets in Bernard-Soulier syndrome, 50, 402 White, 1976, Ultrastructural features of abnormal blood platelets. A review, American Journal of Pathology, 83, 589 Caen, 1973, Interaction between platelets and von Willebrand factor provides a new scheme for primary haemostasis, Nature New Biology, 244, 159, 10.1038/newbio244159a0 Weiss, 1974, Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium. Further implications of the role of the von Willebrand factor in hemostasis, American Journal of Medicine, 57, 920, 10.1016/0002-9343(74)90170-3 Caen, 1976, Bernard-Soulier syndrome: a new platelet glycoprotein abnormality. Its relationship with platelet adhesion to subendothelium and with factor VIII von Willebrand protein, Journal of Laboratory and Clinical Medicine, 87, 586 Fauvel, 1983, Interaction of blood platelets with a microfibrillar extract from adult bovine aorta: requirement for von Willebrand factor, 80, 551 Nurden, 1975, Specific roles for surface glycoproteins in platelet function, Nature, 255, 720, 10.1038/255720a0 Nurden, 1979, The different glycoprotein abnormalities in thrombasthenic and Bernard-Soulier platelets, 16, 234 Hourdille, 1987, Megakaryocytes from the marrow of a patient with Bernard-Soulier syndrome lacked GPIb and were deficient in GP IX Tobelem, 1976, New approach to determination of specific functions of platelet membrane sites, Nature, 263, 427, 10.1038/263427a0 Ruan, 1981, Liaison du facteur VIII/Willebrand aux plaquettes de syndrome de Bernard-Soulier et de thrombasthénie de Glanzmann, Nouvelle Revue Francaise d'Hematologie, 23, 89 Jeandrot-Perrus M, Guillin M C, Nurden A T Gamma human thrombin: lack of correlation between a platelet functional response and glycoprotein V hydrolysis. Thrombosis and Haemostasis, submitted for publication Berndt M C, Caen J P Platelet glycoprotein in progress in hemostasis and thrombosis. Spaet Ed. Grüne and Stratton, p7 Montgomery, 1983, Diagnosis of the Bernard-Soulier syndrome and Glanzmann's thrombastjenia with a monoclonal assay on whole blood, Journal of Clinical Investigation, 71, 385, 10.1172/JCI110780 Gruel, 1986, Determination of platelet antigens and glycoproteins in the human fetus, Blood, 68, 488, 10.1182/blood.V68.2.488.488 Weiss, 1982, Pseudo von Willebrand's disease: an intrinsic platelet defect with aggregation by unmodified human factor VIII/von Willebrand factor and enhanced adsorption of its high molecular weight multimers, New England Journal of Medicine, 306, 326, 10.1056/NEJM198202113060603 Bryckaert, 1985, Abnormality of glycoprotein Ib in two cases of ‘pseudo’ von Willebrand's disease, Journal of Laboratory and Clinical Medicine, 106, 393 Ruggeri, 1981, Heightened interaction between platelets and factor VIII/von Willebrand factor in a new subtype of von Willebrand's disease, New England Journal of Medicine, 302, 1047, 10.1056/NEJM198005083021902 Ruggeri, 1982, Type IIB von Willebrand's disease: Differential clearance of endogenous versus transfused large multimer von Willebrand factor, Blood, 60, 1453, 10.1182/blood.V60.6.1453.1453 Nieuwenhuis, 1985, Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia, Nature, 318, 470, 10.1038/318470a0 Hardisty, 1983, A new congenital defect of platelet secretion: impaired responsiveness of the platelets to cytoplasmic free calcium, British Journal of Haematology, 53, 543, 10.1111/j.1365-2141.1983.tb07306.x Koike, 1984, Platelet secretion defect in patients with the attention deficit disorder and easy bruising, Blood, 63, 427, 10.1182/blood.V63.2.427.427 Malmsten, 1975, Physiological role of an endoperoxide in human platelets: Hemostatic defect due to platelet cyclooxygenase deficiency, 72, 1446 Lagarde, 1978, Impairment of platelet thromboxane A2 generation and of the platelet release reaction in two patients with congenital deficiency of platelet cyclooxygenase, British Journal of Haematology, 38, 251, 10.1111/j.1365-2141.1978.tb01041.x Defreyn, 1981, Familial bleeding tendency with partial platelet thromboxane A2 synthetase deficiency: reorientation of cyclic endoperoxide metabolism, British Journal of Haematology, 49, 29, 10.1111/j.1365-2141.1981.tb07194.x Samama, 1981, Constitutional thrombocytopathies with subnormal response to thromboxane A2, British Journal of Haematology, 48, 293, 10.1111/j.1365-2141.1981.tb02715.x Hardisty, 1967, Bleeding tendency associated with a new abnormality of platelet behaviour, Lancet, i, 983, 10.1016/S0140-6736(67)92363-X Weiss, 1979, Heterogeneity in storage pool deficiency: studies on granule-bound substances in 18 patients including variants deficient in alpha granule platelet factor 4, betathromboglobulin and platelet derived growth factor, Blood, 54, 1296, 10.1182/blood.V54.6.1296.1296 Hermansky, 1959, Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies, Blood, 14, 162, 10.1182/blood.V14.2.162.162 Rendu, 1979, Relationship between mepacrine-labelled dense body number, platelet capacity to accumulate 14C-5HT and platelet density in the Bernard-Soulier and Hermansky-Pudlak syndromes, Thrombosis and Haemostasis (Stutg), 42, 694, 10.1055/s-0038-1666908 Buchanan, 1976, Platelet function in the Chediak-Higashi syndrome, Blood, 47, 941, 10.1182/blood.V47.6.941.941 Rendu, 1983, Evidence that abnormal platelet functions in human Chediak-Higashi syndrome are the result of lack of dense bodies, American Journal of Pathology, 111, 307 Baldini, 1972, Nature of the platelet defect in the Wiskott-Aldrich syndrome, Annals of the New York Academy of Sciences, 201, 437, 10.1111/j.1749-6632.1972.tb16316.x Grottum, 1969, Wiskott-Aldrich syndrome: qualitative defects and short platelet survival, British Journal of Haematology, 17, 373, 10.1111/j.1365-2141.1969.tb01383.x Shapiro, 1978, Wiskott-Aldrich syndrome: detection of a carrier state of metabolic stress of platelets, Lancet, i, 121, 10.1016/S0140-6736(78)90419-1 Parkman, 1981, Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome, Lancet, ii, 1387, 10.1016/S0140-6736(81)92802-6 Pidard, 1987, Analysis of the membrane glycoproteins of platelets in the Wiskott-Aldrich syndrome, Blood Raccuglia, 1971, Gray platelet syndrome: a variety of qualitative platelet disorder, American Journal of Medicine, 51, 818, 10.1016/0002-9343(71)90311-1 Breton-Gorius, 1981, Defective alpha granule production in megakaryocytes from gray platelet syndrome. Ultrastructural studies of bone marrow cells and megakarocytes growing in culture from blood precursors, American Journal of Pathology, 102, 10 Cramer, 1985, Gray-platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes, Blood, 66, 1309, 10.1182/blood.V66.6.1309.1309 Nurden, 1982, Specific protein and glycoprotein deficiencies on platelets isolated from two patients with the gray platelet syndrome, Blood, 59, 709, 10.1182/blood.V59.4.709.709 Levy-Toledano, 1981, Gray platelet syndrome: alpha granule deficiency. Its influence on platelet function, Journal of Laboratory and Clinical Medicine, 98, 831 Kaplan, 1979, Platelet alpha granules contain a growth factor for fibroblasts, Blood, 53, 1043, 10.1182/blood.V53.6.1043.1043 Caen, 1987, Megakaryocytes and myelofibrosis in gray platelet syndrome, Nouvelle Revue Francaise D Hematologie, 29, 109 Caen, 1972, Glanzmann thrombasthenia, Clinics in Haematology, 1, 383 Nurden, 1974, An abnormal platelet glycoprotein pattern in three cases of Glanzmann's thrombasthenia, British Journal of Haematology, 28, 253, 10.1111/j.1365-2141.1974.tb06660.x Degos, 1975, A molecular defect in thrombasthenic platelets, Journal of Clinical Investigations, 56, 236, 10.1172/JCI108074 Hagen, 1980, Immunochemical evidence for protein abnormalities in platelets from patients with Glanzmann's thrombasthenia and Bernard-Soulier syndrome, Journal of Clinical Investigation, 65, 722, 10.1172/JCI109719 Pidard, 1983, Interaction of AP-2, a monoclonal antibody specific for the human platelet glycoprotein IIb–IIIa complex, with intact platelets, Journal of Biology and Chemistry, 258, 12582, 10.1016/S0021-9258(17)44216-5 Nurden, 1985, Residual amounts of glycoproteins IIb and IIIa may be present in the platelets of most patients with Glanzmann's thrombasthenia, Blood, 65, 1021, 10.1182/blood.V65.4.1021.1021 Hourdille, 1986, Megakaryocytes from the marrow of a patient with Glanzmann's thrombasthenia lacked gp IIb–IIIa complexes, Thrombosis and Hemostasis, 56, 66, 10.1055/s-0038-1661605 Coller, 1980, Interaction of normal, thrombasthenic and Bernard-Soulier platelets with immobilized fibrinogen: defective platelet-fibrinogen interaction in thrombasthenia, Blood, 55, 169, 10.1182/blood.V55.2.169.169 Lee, 1981, Relationship between fibrinogen binding and the platelet glycoprotein deficiencies in Glanzmann's thrombasthenia type I and type II, British Journal of Haematology, 48, 48, 10.1111/j.1365-2141.1981.00047.x Nachman, 1982, Complex formation of platelet membrane glycoproteins IIb IIIa with fibrinogen, Journal of Clinical Investigation, 69, 263, 10.1172/JCI110448 Gartner, 1982, Fibrinogen is the receptor for the endogenous lectin of human platelets, Nature, 289, 688, 10.1038/289688a0 Langer, 1984, Alpha actinin and Vinculin in normal and thrombasthenic platelets, Blood, 63, 606, 10.1182/blood.V63.3.606.606 Plow, 1984, Evidence that three adhesive proteins interact with a common recognition site on activated platelets, Journal of Biology and Chemistry, 259, 5388, 10.1016/S0021-9258(18)91019-7 Gartner, 1985, The tetrapeptide analogue of the cell attachment site of fibronectin inhibits platelet aggregation and fibrinogen binding to activated platelets, Journal of Biology and Chemistry, 260, 11891, 10.1016/S0021-9258(17)38962-7 Ginsberg, 1983, Reduced surface expression and binding of fibronectin by thrombin stimulated thrombasthenic platelets, Journal of Clinical Investigation, 71, 619, 10.1172/JCI110808 Ruggeri, 1982, Glanzmann's thrombasthenia: Deficient binding of von Willebrand factor to thrombin stimulated platelets, 79, 6038 Nurden, 1987, A variant of Glanzmann's thrombasthenia with abnormal glycoprotein IIb–IIIa complexes in the platelet membrane, Journal of Clinical Investigation, 79, 962, 10.1172/JCI112907 Caen, 1983, Variant de thrombasthenie Paris I Lariboisière, anomalie moléculaire du complexe glycoprotéinique plaquettaire IIbIIIa, Comptes Rendus de l'Académie des Sciences de Paris, 296, 417 Weiss, 1987, Platelet aggregation, adhesion and adenosine diphosphate release in thrombopathia (platelet factor 3 deficiency), American Journal of Medicine, 43, 570, 10.1016/0002-9343(67)90180-5 Girolami, 1973, Congenital thrombocytopathy (platelet factor 3 defect) with prolonged bleeding time but normal platelet adhesiveness and aggregation, Acta Haematologica, 50, 116, 10.1159/000208338 Minkoff, 1980, Bleeding disorder due to an isolated platelet factor 3 deficiency, Archives of Internal Medicine, 140, 366, 10.1001/archinte.140.3.366 Miletich, 1979, Deficiency of factor Xa-factor Va binding sites on the platelets of a patient with a bleeding disorder, Blood, 54, 1015, 10.1182/blood.V54.5.1015.1015 Lacombe, 1963, Etude sur une thrombopathie familiale, Nouvelle Revue Francaise D Hematologie, 3, 611 Milton, 1979, Shape changing agents produce abnormally large platelets in a hereditary “giant platelets syndrome (MPS)”, Journal of Laboratory and Clinical Medicine, 93, 154 Bellucci, 1985, Complete correction of Glanzmann's thrombasthenia by allogeneic bone-marrow transplantation, British Journal of Haematology, 59, 635, 10.1111/j.1365-2141.1985.tb07358.x