-
1
-
-
0023164845
-
Epidemiological investigation of the prevalence of von Willebrand's disease
-
Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987;69:454-459
-
(1987)
Blood
, vol.69
, pp. 454-459
-
-
Rodeghiero, F.1
Castaman, G.2
Dini, E.3
-
2
-
-
0024331438
-
Structure of the gene for human von Willebrand factor
-
Mancuso DJ, Tuley EA, Westfield LA, et al. Structure of the gene for human von Willebrand factor. J Biol Chem 1989;264:19514-19527
-
(1989)
J Biol Chem
, vol.264
, pp. 19514-19527
-
-
Mancuso, D.J.1
Tuley, E.A.2
Westfield, L.A.3
-
3
-
-
33748802581
-
Update on the pathophysiology and classification of von Willebrand disease: A report of the Subcommittee on von Willebrand Factor
-
Sadler JE, Budde U, Eikenboom JC, et al. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost 2006;4:2103-2114
-
(2006)
J Thromb Haemost
, vol.4
, pp. 2103-2114
-
-
Sadler, J.E.1
Budde, U.2
Eikenboom, J.C.3
-
4
-
-
34249889865
-
More than menorrhagia: A review of the obstetric and gynaecological manifestations of von Willebrand disease
-
James AH. More than menorrhagia: a review of the obstetric and gynaecological manifestations of von Willebrand disease. Thromb Res 2007;120(Suppl 1):S17-S20
-
(2007)
Thromb Res
, vol.120
, Issue.SUPPL. 1
-
-
James, A.H.1
-
5
-
-
33846026307
-
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study
-
James PD, Notley C, Hegadorn C, et al. The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study. Blood 2007;109:145-154
-
(2007)
Blood
, vol.109
, pp. 145-154
-
-
James, P.D.1
Notley, C.2
Hegadorn, C.3
-
6
-
-
33845967766
-
Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD)
-
Goodeve A, Eikenboom J, Castaman G, et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007;109:112-121
-
(2007)
Blood
, vol.109
, pp. 112-121
-
-
Goodeve, A.1
Eikenboom, J.2
Castaman, G.3
-
7
-
-
57149116083
-
Novel VWF sequence variations identified in normal controls and index cases enrolled in the TS Zimmerman Program for the Molecular and Clinical Biology of VWD (ZPMCB-VWD)
-
a218
-
Bellissimo DB, Christopherson PA, Haberichter SL, et al. Novel VWF sequence variations identified in normal controls and index cases enrolled in the TS Zimmerman Program for the Molecular and Clinical Biology of VWD (ZPMCB-VWD). Blood 2007;110:709 (a218)
-
(2007)
Blood
, vol.110
, pp. 709
-
-
Bellissimo, D.B.1
Christopherson, P.A.2
Haberichter, S.L.3
-
8
-
-
29244439008
-
-
Rodeghiero F, Castaman G, Tosetto A, et al. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. [see comment] [erratum appears in J Thromb Haemost 2006;4(4):925] J Thromb Haemost 2005;3:2619-2626
-
Rodeghiero F, Castaman G, Tosetto A, et al. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. [see comment] [erratum appears in J Thromb Haemost 2006;4(4):925] J Thromb Haemost 2005;3:2619-2626
-
-
-
-
9
-
-
57149105854
-
The prevalence of reduced VWF survival phenotype (type 1C VWD) in type 1 index cases recruited into the TS Zimmerman Program for the Molecular and Clinical Biology of VWD (ZPMCB - VWD)
-
a635
-
Haberichter SL, Christopherson PA, Perry CL, et al. The prevalence of reduced VWF survival phenotype (type 1C VWD) in type 1 index cases recruited into the TS Zimmerman Program for the Molecular and Clinical Biology of VWD (ZPMCB - VWD). Blood 2007;110:2133 (a635)
-
(2007)
Blood
, vol.110
, pp. 2133
-
-
Haberichter, S.L.1
Christopherson, P.A.2
Perry, C.L.3
-
10
-
-
33644979514
-
Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD
-
Eikenboom J, Van Marion V, Putter H, et al. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost 2006;4:774-782
-
(2006)
J Thromb Haemost
, vol.4
, pp. 774-782
-
-
Eikenboom, J.1
Van Marion, V.2
Putter, H.3
-
11
-
-
33746988071
-
Von Willebrand's disease: A novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency
-
Casana P, Cabrera N, Haya S, Cid AR, Aznar JA. Von Willebrand's disease: a novel mutation, P1824H and the incidence of R1205H defect among families with dominant quantitative von Willebrand factor deficiency. Haematologica 2006;91:1130-1133
-
(2006)
Haematologica
, vol.91
, pp. 1130-1133
-
-
Casana, P.1
Cabrera, N.2
Haya, S.3
Cid, A.R.4
Aznar, J.A.5
-
12
-
-
1642581706
-
An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13
-
Bowen DJ, Collins PW. An amino acid polymorphism in von Willebrand factor correlates with increased susceptibility to proteolysis by ADAMTS13. Blood 2004;103:941-947
-
(2004)
Blood
, vol.103
, pp. 941-947
-
-
Bowen, D.J.1
Collins, P.W.2
-
13
-
-
33751219230
-
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease
-
Cumming A, Grundy P, Keeney S, et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006;96:630-641
-
(2006)
Thromb Haemost
, vol.96
, pp. 630-641
-
-
Cumming, A.1
Grundy, P.2
Keeney, S.3
-
14
-
-
34648819054
-
Genetics of type 1 von Willebrand disease
-
Goodeve A. Genetics of type 1 von Willebrand disease. Curr Opin Hematol 2007;14:444-449
-
(2007)
Curr Opin Hematol
, vol.14
, pp. 444-449
-
-
Goodeve, A.1
-
15
-
-
57149100107
-
Common VWF haplotypes in normal African-Americans and Caucasians recruited into the ZPMCB-VWD and their impact on VWF laboratory testing
-
a219
-
Flood VH, Kautza BC, Miller CA, et al. Common VWF haplotypes in normal African-Americans and Caucasians recruited into the ZPMCB-VWD and their impact on VWF laboratory testing. Blood 2007;110:714 (a219)
-
(2007)
Blood
, vol.110
, pp. 714
-
-
Flood, V.H.1
Kautza, B.C.2
Miller, C.A.3
-
16
-
-
36949030473
-
A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: An elusive phenotype and a difficult diagnosis
-
Casonato A, Sartorello F, Pontara E, et al. A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis. Thromb Haemost 2007;98:1182-1187
-
(2007)
Thromb Haemost
, vol.98
, pp. 1182-1187
-
-
Casonato, A.1
Sartorello, F.2
Pontara, E.3
-
17
-
-
0034912198
-
Congenital von Willebrand disease type 3: Clinical manifestations, pathophysiology and molecular biology
-
Eikenboom JC. Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. Best Pract Res Clin Haematol 2001;14:365-379
-
(2001)
Best Pract Res Clin Haematol
, vol.14
, pp. 365-379
-
-
Eikenboom, J.C.1
-
18
-
-
0033126328
-
Hereditary pseudohaemophilia
-
discussion 222
-
von Willebrand EA. Hereditary pseudohaemophilia. Haemophilia 1999;5:223-231discussion 222
-
(1999)
Haemophilia
, vol.5
, pp. 223-231
-
-
von Willebrand, E.A.1
-
19
-
-
0027185452
-
Mutations of von Willebrand factor gene in families with von Willebrand disease in the Åland Islands
-
Zhang ZP, Blomback M, Nyman D, Anvret M. Mutations of von Willebrand factor gene in families with von Willebrand disease in the Åland Islands. Proc Natl Acad Sci U S A 1993;90:7937-7940
-
(1993)
Proc Natl Acad Sci U S A
, vol.90
, pp. 7937-7940
-
-
Zhang, Z.P.1
Blomback, M.2
Nyman, D.3
Anvret, M.4
-
20
-
-
0037624499
-
Molecular defects in type 3 von Willebrand disease: Updated results from 40 multiethnic patients
-
Baronciani L, Cozzi G, Canciani MT, et al. Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. Blood Cells Mol Dis 2003;30:264-270
-
(2003)
Blood Cells Mol Dis
, vol.30
, pp. 264-270
-
-
Baronciani, L.1
Cozzi, G.2
Canciani, M.T.3
-
23
-
-
0037443406
-
Willebrand disease type 1: A diagnosis in search of a disease
-
Sadler JE. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood 2003;101:2089-2093
-
(2003)
Blood
, vol.101
, pp. 2089-2093
-
-
Von, S.J.E.1
-
24
-
-
57149114670
-
-
Goldberg L, Ragni M. Bleeding score as a preoperative predictor of postoperative bleeding in type 1 von Willebrand disease. Blood 2006;4394: (303a)
-
Goldberg L, Ragni M. Bleeding score as a preoperative predictor of postoperative bleeding in type 1 von Willebrand disease. Blood 2006;4394: (303a)
-
-
-
-
25
-
-
33646160453
-
Von Willebrand's disease: Clinical management
-
Federici AB, Castaman G, Thompson A, Berntorp E. Von Willebrand's disease: clinical management. Haemophilia 2006;12(Suppl 3):152-158
-
(2006)
Haemophilia
, vol.12
, Issue.SUPPL. 3
, pp. 152-158
-
-
Federici, A.B.1
Castaman, G.2
Thompson, A.3
Berntorp, E.4
-
26
-
-
33644977050
-
A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: Results from a multicenter European study (MCMDM-1 VWD)
-
Tosetto A, Rodeghiero F, Castaman G, et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006;4:766-773
-
(2006)
J Thromb Haemost
, vol.4
, pp. 766-773
-
-
Tosetto, A.1
Rodeghiero, F.2
Castaman, G.3
-
27
-
-
33947198691
-
Assessing bleeding in von Willebrand disease with bleeding score
-
Tosetto A, Castaman G, Rodeghiero F. Assessing bleeding in von Willebrand disease with bleeding score. Blood Rev 2007;21:89-97
-
(2007)
Blood Rev
, vol.21
, pp. 89-97
-
-
Tosetto, A.1
Castaman, G.2
Rodeghiero, F.3
-
28
-
-
43249098361
-
Evidence-based diagnosis of type 1 von Willebrand disease: A Bayes theorem approach
-
Tosetto A, Castaman G, Rodeghiero F. Evidence-based diagnosis of type 1 von Willebrand disease: a Bayes theorem approach. Blood 2008;111:3998-4003
-
(2008)
Blood
, vol.111
, pp. 3998-4003
-
-
Tosetto, A.1
Castaman, G.2
Rodeghiero, F.3
-
29
-
-
0030767469
-
Desmopressin (DDAVP) in the treatment of bleeding disorders: The first 20 years
-
Mannucci PM. Desmopressin (DDAVP) in the treatment of bleeding disorders: the first 20 years. Blood 1997;90:2515-2521
-
(1997)
Blood
, vol.90
, pp. 2515-2521
-
-
Mannucci, P.M.1
-
30
-
-
3943048700
-
Treatment of von Willebrand's disease
-
Mannucci PM. Treatment of von Willebrand's disease. N Engl J Med 2004;351:683-694
-
(2004)
N Engl J Med
, vol.351
, pp. 683-694
-
-
Mannucci, P.M.1
-
31
-
-
0141991934
-
Clinical practice. Combination estrogen-progestin oral contraceptives
-
Petitti DB. Clinical practice. Combination estrogen-progestin oral contraceptives. N Engl J Med 2003;349:1443-1450
-
(2003)
N Engl J Med
, vol.349
, pp. 1443-1450
-
-
Petitti, D.B.1
-
32
-
-
0036862293
-
DDAVP nasal spray for treatment of menorrhagia in women with inherited bleeding disorders: A randomized placebo-controlled crossover study
-
Kadir RA, Lee CA, Sabin CA, Pollard D, Economides DL. DDAVP nasal spray for treatment of menorrhagia in women with inherited bleeding disorders: a randomized placebo-controlled crossover study. Haemophilia 2002;8:787-793
-
(2002)
Haemophilia
, vol.8
, pp. 787-793
-
-
Kadir, R.A.1
Lee, C.A.2
Sabin, C.A.3
Pollard, D.4
Economides, D.L.5
-
33
-
-
43549097149
-
Response to desmopressin is influenced by the genotype and phenotype in type 1 Von Willebrand Disease (VWD): Results from the European study MCMDM-1VWD
-
Castaman G, Lethagen S, Federici AB, et al. Response to desmopressin is influenced by the genotype and phenotype in type 1 Von Willebrand Disease (VWD): results from the European study MCMDM-1VWD. Blood 2008;111:3531-3539
-
(2008)
Blood
, vol.111
, pp. 3531-3539
-
-
Castaman, G.1
Lethagen, S.2
Federici, A.B.3
-
34
-
-
17044373272
-
Use of desmopressin (DDAVP) during early pregnancy in factor VIII-deficient women
-
Mannucci PM. Use of desmopressin (DDAVP) during early pregnancy in factor VIII-deficient women. Blood 2005;105:3382
-
(2005)
Blood
, vol.105
, pp. 3382
-
-
Mannucci, P.M.1
-
35
-
-
10744220312
-
Successful treatment for patients with von Willebrand disease undergoing urgent surgery using factor VIII/VWF concentrate (Humate-P)
-
Thompson AR, Gill JC, Ewenstein BM, Mueller-Velten G, Schwartz BA. Successful treatment for patients with von Willebrand disease undergoing urgent surgery using factor VIII/VWF concentrate (Humate-P). Haemophilia 2004;10:42-51
-
(2004)
Haemophilia
, vol.10
, pp. 42-51
-
-
Thompson, A.R.1
Gill, J.C.2
Ewenstein, B.M.3
Mueller-Velten, G.4
Schwartz, B.A.5
-
36
-
-
57149108627
-
Recombinant IL-11 (Neumega, rhIL-11) increases plasma von Willebrand factor in type 1 von Willebrand disease
-
299a
-
Jankowitz R, Nichols T, Ragni M. Recombinant IL-11 (Neumega, rhIL-11) increases plasma von Willebrand factor in type 1 von Willebrand disease. Blood 2006;108:1003 (299a)
-
(2006)
Blood
, vol.108
, pp. 1003
-
-
Jankowitz, R.1
Nichols, T.2
Ragni, M.3
-
37
-
-
0035863915
-
Interleukin 11 significantly increases plasma von Willebrand factor and factor VIII in wild type and von Willebrand disease mouse models
-
Denis CV, Kwack K, Saffaripour S, et al. Interleukin 11 significantly increases plasma von Willebrand factor and factor VIII in wild type and von Willebrand disease mouse models. Blood 2001;97:465-472
-
(2001)
Blood
, vol.97
, pp. 465-472
-
-
Denis, C.V.1
Kwack, K.2
Saffaripour, S.3
-
38
-
-
33846460012
-
Menorrhagia due to abnormalities of the platelet function: Evaluation of two young patients
-
Aydinok Y, Egemen A, Balkan C. Menorrhagia due to abnormalities of the platelet function: evaluation of two young patients. Pediatr Int 2007;49:106-108
-
(2007)
Pediatr Int
, vol.49
, pp. 106-108
-
-
Aydinok, Y.1
Egemen, A.2
Balkan, C.3
-
39
-
-
33846416964
-
Trp207Gly in platelet glycoprotein Ib alpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome
-
Rosenberg N, Lalezari S, Landau M, Shenkman B, Seligsohn U, Izraeli S. Trp207Gly in platelet glycoprotein Ib alpha is a novel mutation that disrupts the connection between the leucine-rich repeat domain and the disulfide loop structure and causes Bernard-Soulier syndrome. J Thromb Haemost 2007;5:378-386
-
(2007)
J Thromb Haemost
, vol.5
, pp. 378-386
-
-
Rosenberg, N.1
Lalezari, S.2
Landau, M.3
Shenkman, B.4
Seligsohn, U.5
Izraeli, S.6
-
40
-
-
0033135652
-
The critical interaction of glycoprotein (GP) IB beta with GPIX-a genetic cause of Bernard-Soulier syndrome
-
Kenny D, Morateck PA, Gill JC, Montgomery RR. The critical interaction of glycoprotein (GP) IB beta with GPIX-a genetic cause of Bernard-Soulier syndrome. Blood 1999;93:2968-2975
-
(1999)
Blood
, vol.93
, pp. 2968-2975
-
-
Kenny, D.1
Morateck, P.A.2
Gill, J.C.3
Montgomery, R.R.4
-
41
-
-
0029951698
-
Platelet-type von Willebrand disease
-
Miller JL. Platelet-type von Willebrand disease. Thromb Haemost 1996;75:865-869
-
(1996)
Thromb Haemost
, vol.75
, pp. 865-869
-
-
Miller, J.L.1
-
42
-
-
40549137503
-
Clinical, laboratory and therapeutic aspects of platelet-type von Willebrand disease
-
Franchini M, Montagnana M, Lippi G. Clinical, laboratory and therapeutic aspects of platelet-type von Willebrand disease. Int J Lab Hematol 2008;30:91-94
-
(2008)
Int J Lab Hematol
, vol.30
, pp. 91-94
-
-
Franchini, M.1
Montagnana, M.2
Lippi, G.3
-
43
-
-
0027938512
-
Precise diagnosis by gene analysis and successful management of delivery in three patients with type IIB von Willebrand disease
-
Takafuta T, Fujimura K, Shimomura T, et al. Precise diagnosis by gene analysis and successful management of delivery in three patients with type IIB von Willebrand disease. Int J Hematol 1994;60:163-172
-
(1994)
Int J Hematol
, vol.60
, pp. 163-172
-
-
Takafuta, T.1
Fujimura, K.2
Shimomura, T.3
-
44
-
-
33947325827
-
Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia
-
Gohda F, Uchiumi H, Handa H, et al. Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia. Thromb Res 2007;119:741-746
-
(2007)
Thromb Res
, vol.119
, pp. 741-746
-
-
Gohda, F.1
Uchiumi, H.2
Handa, H.3
-
45
-
-
36148957054
-
Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann's thrombasthenia
-
Poon M-C. Clinical use of recombinant human activated factor VII (rFVIIa) in the prevention and treatment of bleeding episodes in patients with Glanzmann's thrombasthenia. Vasc Health Risk Manag 2007;3:655-664
-
(2007)
Vasc Health Risk Manag
, vol.3
, pp. 655-664
-
-
Poon, M.-C.1
-
46
-
-
34547218485
-
Proposed management of pregnancy and labour in an inherited platelet disorder, Glanzmann's thrombasthenia
-
Anwer A, Hanley J, Kumarendran K. Proposed management of pregnancy and labour in an inherited platelet disorder, Glanzmann's thrombasthenia. J Obstet Gynaecol 2007;27:421-423
-
(2007)
J Obstet Gynaecol
, vol.27
, pp. 421-423
-
-
Anwer, A.1
Hanley, J.2
Kumarendran, K.3
-
47
-
-
7444235492
-
Hermansky-Pudlak syndrome in a pregnant patient
-
Poddar RK, Coley S, Pavord S. Hermansky-Pudlak syndrome in a pregnant patient. Br J Anaesth 2004;93:740-742
-
(2004)
Br J Anaesth
, vol.93
, pp. 740-742
-
-
Poddar, R.K.1
Coley, S.2
Pavord, S.3
-
49
-
-
4844225791
-
Clinical manifestations and management of labor and delivery in women with factor IX deficiency
-
Yang MY, Ragni MV. Clinical manifestations and management of labor and delivery in women with factor IX deficiency. Haemophilia 2004;10:483-490
-
(2004)
Haemophilia
, vol.10
, pp. 483-490
-
-
Yang, M.Y.1
Ragni, M.V.2
-
50
-
-
0028966086
-
A skewed lyonization phenomenon as cause of hemophilia A in a female patient
-
Acquila M, Caprino D, Bicocchi P, Mori PG, Tagliaferri AR. A skewed lyonization phenomenon as cause of hemophilia A in a female patient. Blood 1995;85:599-600
-
(1995)
Blood
, vol.85
, pp. 599-600
-
-
Acquila, M.1
Caprino, D.2
Bicocchi, P.3
Mori, P.G.4
Tagliaferri, A.R.5
-
51
-
-
0030820687
-
The obstetric experience of carriers of haemophilia
-
Kadir RA, Economides DL, Braithwaite J, Goldman E, Lee CA. The obstetric experience of carriers of haemophilia. Br J Obstet Gynaecol 1997;104:803-810
-
(1997)
Br J Obstet Gynaecol
, vol.104
, pp. 803-810
-
-
Kadir, R.A.1
Economides, D.L.2
Braithwaite, J.3
Goldman, E.4
Lee, C.A.5
-
52
-
-
0035023768
-
-
Leissinger C, Becton D, Cornell CJr, Cox Gill J. High-dose DDAVP intranasal spray (Stimate) for the prevention and treatment of bleeding in patients with mild haemophilia A, mild or moderate type 1 von Willebrand disease and symptomatic carriers of haemophilia A. Haemophilia 2001;7:258-266
-
Leissinger C, Becton D, Cornell CJr, ,Cox Gill J. High-dose DDAVP intranasal spray (Stimate) for the prevention and treatment of bleeding in patients with mild haemophilia A, mild or moderate type 1 von Willebrand disease and symptomatic carriers of haemophilia A. Haemophilia 2001;7:258-266
-
-
-
-
53
-
-
34547409739
-
Outcome of pregnancy in patients with haemophilia B - two case reports
-
Gekas J, Broermann L, Heidenreich W. Outcome of pregnancy in patients with haemophilia B - two case reports. Z Geburtshilfe Neonatol 2007;211:90-92
-
(2007)
Z Geburtshilfe Neonatol
, vol.211
, pp. 90-92
-
-
Gekas, J.1
Broermann, L.2
Heidenreich, W.3
-
54
-
-
0028899613
-
One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews
-
Shpilberg O, Peretz H, Zivelin A, et al. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 1995;85:429-432
-
(1995)
Blood
, vol.85
, pp. 429-432
-
-
Shpilberg, O.1
Peretz, H.2
Zivelin, A.3
-
55
-
-
0021987658
-
Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds
-
Ragni MV, Sinha D, Seaman F, Lewis JH, Spero JA, Walsh PN. Comparison of bleeding tendency, factor XI coagulant activity, and factor XI antigen in 25 factor XI-deficient kindreds. Blood 1985;65:719-724
-
(1985)
Blood
, vol.65
, pp. 719-724
-
-
Ragni, M.V.1
Sinha, D.2
Seaman, F.3
Lewis, J.H.4
Spero, J.A.5
Walsh, P.N.6
-
56
-
-
0032773303
-
Bleeding problems in factor XI deficient women
-
Bolton-Maggs PH. Bleeding problems in factor XI deficient women. Haemophilia 1999;5:155-159
-
(1999)
Haemophilia
, vol.5
, pp. 155-159
-
-
Bolton-Maggs, P.H.1
-
57
-
-
3042755229
-
Response to desmopressin of factors XI, X and V in patients with factor VIII deficiency and von Willebrand disease
-
White B, Lawler P, Riddell A, et al. Response to desmopressin of factors XI, X and V in patients with factor VIII deficiency and von Willebrand disease. Br J Haematol 2004;126:100-104
-
(2004)
Br J Haematol
, vol.126
, pp. 100-104
-
-
White, B.1
Lawler, P.2
Riddell, A.3
-
58
-
-
0033968802
-
Prophylactic use of desmopressin in surgery of six patients with symptomatic heterozygous factor XI deficiency
-
Franchini M, de Gironcoli M, Lippi G, Manzato F, Aprili G, Gandini G. Prophylactic use of desmopressin in surgery of six patients with symptomatic heterozygous factor XI deficiency. Haematologica 2000;85:106-107
-
(2000)
Haematologica
, vol.85
, pp. 106-107
-
-
Franchini, M.1
de Gironcoli, M.2
Lippi, G.3
Manzato, F.4
Aprili, G.5
Gandini, G.6
-
59
-
-
36049037379
-
Uneventful cesarean delivery with administration of factor XI concentrate in a patient with severe factor XI deficiency
-
Mavromatidis G, Dinas K, Delkos D, et al. Uneventful cesarean delivery with administration of factor XI concentrate in a patient with severe factor XI deficiency. Int J Hematol 2007;86:222-224
-
(2007)
Int J Hematol
, vol.86
, pp. 222-224
-
-
Mavromatidis, G.1
Dinas, K.2
Delkos, D.3
-
60
-
-
13844253969
-
Treatment of factor XI inhibitor using recombinant activated factor VIIa
-
Bern MM, Sahud M, Zhukov O, Qu K, Mitchell WJr. Treatment of factor XI inhibitor using recombinant activated factor VIIa. Haemophilia 2005;11:20-25
-
(2005)
Haemophilia
, vol.11
, pp. 20-25
-
-
Bern, M.M.1
Sahud, M.2
Zhukov, O.3
Qu, K.4
WJr, M.5
-
61
-
-
33646138963
-
Genetic diagnosis of haemophilia and other inherited bleeding disorders
-
Peyvandi F, Jayandharan G, Chandy M, et al. Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia 2006;12(Suppl 3):82-89
-
(2006)
Haemophilia
, vol.12
, Issue.SUPPL. 3
, pp. 82-89
-
-
Peyvandi, F.1
Jayandharan, G.2
Chandy, M.3
-
62
-
-
0030903445
-
Pregnancies in a patient with congenital absence of prothrombin activity: Case report
-
Catanzarite VA, Novotny WF, Cousins LM, Schneider JM. Pregnancies in a patient with congenital absence of prothrombin activity: case report. Am J Perinatol 1997;14: 135-138
-
(1997)
Am J Perinatol
, vol.14
, pp. 135-138
-
-
Catanzarite, V.A.1
Novotny, W.F.2
Cousins, L.M.3
Schneider, J.M.4
-
63
-
-
0031743980
-
Congenital deficiencies and abnormalities of prothrombin
-
Girolami A, Scarano L, Saggiorato G, Girolami B, Bertomoro A, Marchiori A. Congenital deficiencies and abnormalities of prothrombin. Blood Coagul Fibrinolysis 1998;9:557-569
-
(1998)
Blood Coagul Fibrinolysis
, vol.9
, pp. 557-569
-
-
Girolami, A.1
Scarano, L.2
Saggiorato, G.3
Girolami, B.4
Bertomoro, A.5
Marchiori, A.6
-
64
-
-
33646458533
-
Successful pregnancy in a patient with factor V deficiency: Case report and review of the literature
-
Vellinga S, Steel E, Vangenechten I, Gadisseur A. Successful pregnancy in a patient with factor V deficiency: case report and review of the literature. Thromb Haemost 2006;95:896-897
-
(2006)
Thromb Haemost
, vol.95
, pp. 896-897
-
-
Vellinga, S.1
Steel, E.2
Vangenechten, I.3
Gadisseur, A.4
-
65
-
-
13844296532
-
Pregnancy and oral contraceptives in factor V deficiency: A study of 22 patients (five homozygotes and 17 heterozygotes) and review of the literature
-
Girolami A, Scandellari R, Lombardi AM, Girolami B, Bortoletto E, Zanon E. Pregnancy and oral contraceptives in factor V deficiency: a study of 22 patients (five homozygotes and 17 heterozygotes) and review of the literature. Haemophilia 2005;11:26-30
-
(2005)
Haemophilia
, vol.11
, pp. 26-30
-
-
Girolami, A.1
Scandellari, R.2
Lombardi, A.M.3
Girolami, B.4
Bortoletto, E.5
Zanon, E.6
-
66
-
-
33846900444
-
A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients
-
D'Ambrosio R, Santacroce R, Di Perna P, Sarno M, Romondia A, Margaglione M. A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients. Blood Coagul Fibrinolysis 2007;18:203-204
-
(2007)
Blood Coagul Fibrinolysis
, vol.18
, pp. 203-204
-
-
D'Ambrosio, R.1
Santacroce, R.2
Di Perna, P.3
Sarno, M.4
Romondia, A.5
Margaglione, M.6
-
67
-
-
23244461060
-
Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII
-
Mohanty D, Ghosh K, Shetty S, Spreafico M, Garagiola I, Peyvandi F. Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII. Am J Hematol 2005;79:262-266
-
(2005)
Am J Hematol
, vol.79
, pp. 262-266
-
-
Mohanty, D.1
Ghosh, K.2
Shetty, S.3
Spreafico, M.4
Garagiola, I.5
Peyvandi, F.6
-
68
-
-
0036839309
-
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16
-
Fregin A, Rost S, Wolz W, Krebsova A, Muller CR, Oldenburg J. Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. Blood 2002;100:3229-3232
-
(2002)
Blood
, vol.100
, pp. 3229-3232
-
-
Fregin, A.1
Rost, S.2
Wolz, W.3
Krebsova, A.4
Muller, C.R.5
Oldenburg, J.6
-
69
-
-
13244256852
-
Familial multiple coagulation factor deficiencies: New biologic insight from rare genetic bleeding disorders
-
Zhang B, Ginsburg D. Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders. J Thromb Haemost 2004;2:1564-1572
-
(2004)
J Thromb Haemost
, vol.2
, pp. 1564-1572
-
-
Zhang, B.1
Ginsburg, D.2
-
70
-
-
0029125615
-
A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12
-
Johnson DW, Berg JN, Gallione CJ, et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. Genome Res 1995;5:21-28
-
(1995)
Genome Res
, vol.5
, pp. 21-28
-
-
Johnson, D.W.1
Berg, J.N.2
Gallione, C.J.3
-
71
-
-
0028171579
-
Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
-
McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet 1994;8:345-351
-
(1994)
Nat Genet
, vol.8
, pp. 345-351
-
-
McAllister, K.A.1
Grogg, K.M.2
Johnson, D.W.3
-
72
-
-
33846208639
-
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network
-
Lesca G, Olivieri C, Burnichon N, et al. Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med 2007;9:14-22
-
(2007)
Genet Med
, vol.9
, pp. 14-22
-
-
Lesca, G.1
Olivieri, C.2
Burnichon, N.3
-
73
-
-
33645786728
-
Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia
-
Letteboer TG, Mager JJ, Snijder RJ, et al. Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia. J Med Genet 2006;43:371-377
-
(2006)
J Med Genet
, vol.43
, pp. 371-377
-
-
Letteboer, T.G.1
Mager, J.J.2
Snijder, R.J.3
-
74
-
-
39049194993
-
Pregnancy with uterine vascular malformations associated with hemorrhagic hereditary telangiectasia: A case report
-
Dahlgren LS, Effer SB, McGillivray BC, Pugash DJ. Pregnancy with uterine vascular malformations associated with hemorrhagic hereditary telangiectasia: a case report. J Obstet Gynaecol Can 2006;28:720-723
-
(2006)
J Obstet Gynaecol Can
, vol.28
, pp. 720-723
-
-
Dahlgren, L.S.1
Effer, S.B.2
McGillivray, B.C.3
Pugash, D.J.4
-
76
-
-
33846195431
-
Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: A series of 126 patients
-
Cottin V, Chinet T, Lavole A, et al. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. Medicine 2007;86:1-17
-
(2007)
Medicine
, vol.86
, pp. 1-17
-
-
Cottin, V.1
Chinet, T.2
Lavole, A.3
-
77
-
-
0034054910
-
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
-
Pepin M, Schwarze U, Superti-Furga A, Byers PH. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 2000;342:673-680
-
(2000)
N Engl J Med
, vol.342
, pp. 673-680
-
-
Pepin, M.1
Schwarze, U.2
Superti-Furga, A.3
Byers, P.H.4
-
78
-
-
34047176482
-
Fatal bleeding following delivery: A manifestation of the vascular type of Ehlers-Danlos' syndrome
-
Bjorck M, Pigg M, Kragsterman B, Bergqvist D. Fatal bleeding following delivery: a manifestation of the vascular type of Ehlers-Danlos' syndrome. Gynecol Obstet Invest 2007;63:173-175
-
(2007)
Gynecol Obstet Invest
, vol.63
, pp. 173-175
-
-
Bjorck, M.1
Pigg, M.2
Kragsterman, B.3
Bergqvist, D.4
-
80
-
-
3342927633
-
Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome
-
Pallotta R, Ehresmann T, Fusilli P, De Paepe A, Nuytinck L. Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome. Am J Med Genet A 2004;128A:436-438
-
(2004)
Am J Med Genet A
, vol.128 A
, pp. 436-438
-
-
Pallotta, R.1
Ehresmann, T.2
Fusilli, P.3
De Paepe, A.4
Nuytinck, L.5
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