1. Alexander B, Goldstein R, Landwehr G, Cook CD. Congenital SPCA deficiency: a hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions. The Journal of clinical investigation 1951;30:596-608.
2. Lapecorella M, Mariani G, International Registry on Congenital Factor VIID. Factor VII deficiency: defining the clinical picture and optimizing therapeutic options. Haemophilia: the official journal of the World Federation of Hemophilia 2008;14:1170-5.
3. Brummel-Ziedins K, Mann K. Molecular basis of blood coagulation. In: Hoffmann R, Benz E, Silberstein L, Heslop H, Weitz J, Anastasi J, eds. Hematology: Basic Principles and Practice 6ed. Philadelphia: Elsevier-Saunders; 2013:1821-42.
4. Bauer KA, Kass BL, ten Cate H, Hawiger JJ, Rosenberg RD. Factor IX is activated in vivo by the tissue factor mechanism. Blood 1990;76:731-6.
5. Davie EW, Fujikawa K, Kisiel W. The coagulation cascade: initiation, maintenance, and regulation. Biochemistry 1991;30:10363-70.
6. Osterud B. Factor VII and haemostasis. Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis 1990;1:175-81.
7. Mariani G, Lo Coco L, Bernardi F, Pinotti M. Molecular and clinical aspects of factor VII deficiency. Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis 1998;9 Suppl 1:S83-8.
8. Mariani G, Herrmann F, Dolce A, et al. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thrombosis and haemostasis 2005;93:481-7.
9. Giansily-Blaizot M, Thorel D, Khau Van Kien P, et al. Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency. British journal of haematology 2007;138:359-65.
10. http://www.iss.it/binary/iss4/cont/Registro_nazionale_coagulopatie_congenite_
Rapporto_Istisan_2014.pdf
11. Di Minno M, Dolce A, Mariani G, Group SS. Bleeding symptoms at disease presentation and prediction of ensuing bleeding in inherited FVII deficiency. Thrombosis and haemostasis 2013;109: 1051-9.
12. Inherited FVIII deficiency. 2004. (Accessed August 14, 2013, at https://www.orpha.net/data/patho/GB/uk-factorVII.pdf.)
13. O’Hara PJ, Grant FJ, Haldeman BA, et al. Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation. Proceedings of the National Academy of Sciences of the United States of America 1987;84:5158-62.
14. Di Castelnuovo A, D’Orazio A, Amore C, et al. Genetic modulation of coagulation factor VII plasma levels: contribution of different polymorphisms and gender-related effects. Thrombosis and haemostasis 1998;80:592-7.
15. Bernardi F, Marchetti G, Pinotti M, et al. Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma. Arteriosclerosis, thrombosis, and vascular biology 1996;16:72-6.
16. Bernardi F, Arcieri P, Bertina RM, et al. Contribution of factor VII genotype to activated FVII levels. Differences in genotype frequencies between northern and southern European populations. Arteriosclerosis, thrombosis, and vascular biology 1997;17:2548-53.
17. McVey JH, Boswell E, Mumford AD, Kemball-Cook G, Tuddenham EG. Factor VII deficiency and the FVII mutation database. Hum Mutat 2001;17:3-17.
18. Quintavalle G, Riccardi F, Rivolta GF, Martorana D, Di Perna C, Percesepe A, Tagliaferri A, Ad-Hoc Study Group OBOT. F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency. Results from a genotype-phenotype study. Thromb Haemost. 2017 Aug 1;117(8):1455-1464.
19. Bolton-Maggs PH, Perry DJ, Chalmers EA, et al. The rare coagulation disorders–review with guidelines for management from the United Kingdom Haemophilia Centre Doctors’ Organisation. Haemophilia: the official journal of the World Federation of Hemophilia 2004;10:593-628.
20. Mariani G, Konkle BA, Ingerslev J. Congenital factor VII deficiency: therapy with recombinant activated factor VII — a critical appraisal. Haemophilia: the official journal of the World Federation of Hemophilia 2006;12:19-27.
21. Mariani G, Bernardi F. Factor VII deficiency. Seminars in thrombosis and hemostasis 2009;35:400-6.
22. Barnett JM, Demel KC, Mega AE, Butera JN, Sweeney JD. Lack of bleeding in patients with severe factor VII deficiency. American journal of hematology 2005;78:134-7.
23. Giansily-Blaizot M, Biron-Andreani C, Aguilar-Martinez P, et al. Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding. British journal of haematology 2002;117:172-5.
24. Giansily-Blaizot M, Verdier R, Biron-Andreani C, Schved JF, The Study Group of FVII Deficiency. Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predit the bleeding risk? Haematologica 2004;89:704-9.
25. Mariani G, Dolce A, Marchetti G, Bernardi F. Clinical picture and management of congenital factor VII deficiency. Haemophilia: the official journal of the World Federation of Hemophilia 2004;10 Suppl 4:180-3.
26. Kadir RA, Economides DL, Sabin CA, Owens D, Lee CA. Frequency of inherited bleeding disorders in women with menorrhagia. Lancet 1998;351:485-9.
27. Napolitano M., Dolce A., Celenza G., Grandone E., Perilli M.G., Siragusa S., Carta G., Orecchioni A., Mariani G. Iron dependent erythropoiesis in women with excessive menstrual blood losses and women with normal menses. Ann. Hemat. 2014;93:557–563.
28. Napolitano M., Di Minno M.N.D., Batorova A., Dolce A., Giansily-Blaizot M., Ingerslev J., Schved J.F., Auerswald G., Kenet G., Karimi M., et al. Women with congenital factor VII deficiency: Clinical phenotype and treatment options from two international studies. Haemophilia. 2016;22:752–759.
29. Mariani G, Dolce A, Napolitano M, et al. Invasive procedures and minor surgery in factor VII deficiency. Haemophilia: the official journal of the World Federation of Hemophilia 2012;18:e63-5.
30. Mariani G, Dolce A, Batorova A, et al. Recombinant, activated factor VII for surgery in factor VII deficiency: a prospective evaluation – the surgical STER. British journal of haematology 2011;152:340-6.
31. Napolitano M., Mariani G., Lapecorella M. Hereditary combined deficiency of the vitamin K-dependent clotting factors. Orphanet. J. Rare Dis. 2010;5:21.
32. Takamiya O, Ishikawa S, Ohnuma O, et al. Japanese collaborative study to assess inter-laboratory variation in factor VII activity assays. Journal of thrombosis and haemostasis: JTH 2007;5:1686-92.
33. Mariani G, Liberti G, D’Angelo T, LoCoco L. Factor VII activity and antigen. In: Jespersen J, Bertina R, Haverkate F, eds. Laboratory Techniques in Thrombosis, a Manual. Dordrecht, NL: Kluwer Academic Publishers; 1999:99-106.
34. Shetty S, Ghosh K. Robustness of factor assays following cordocentesis in the prenatal diagnosis of haemophilia and other bleeding disorders. Haemophilia: the official journal of the World Federation of Hemophilia 2007;13:172-7.
35. Mota L, Ghosh K, Shetty S. Second trimester antenatal diagnosis in rare coagulation factor deficiencies. J Pediatr Hematol Oncol 2007;29:137-9.
36. Giansily-Blaizot M, Aguilar-Martinez P, Mazurier C, et al. Prenatal diagnosis of severe factor VII deficiency using mutation detection and linkage analysis. British journal of haematology 2001;112:251-2.
37. Mariani G, Napolitano M, Dolce A, et al. Replacement therapy for bleeding episodes in factor VII deficiency. A prospective evaluation. Thrombosis and haemostasis 2013;109:238-47.
38. Napolitano M, Giansily-Blaizot M, Dolce A, et al. Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER). Haematologica 2013;98:538-44.
39. Berrettini M, Mariani G, Schiavoni M, et al. Pharmacokinetic evaluation of recombinant, activated factor VII in patients with inherited factor VII deficiency. Haematologica 2001;86:640-5.
40. Ingerslev J, Kristensen HL. Clinical picture and treatment strategies in factor VII deficiency. Haemophilia: the official journal of the World Federation of Hemophilia 1998;4:689-96.
41. Bauer KA. Treatment of factor VII deficiency with recombinant factor VIIa. Haemostasis 1996;26 Suppl 1:155-8.
42. Nicolaisen EM. Antigenicity of activated recombinant factor VII followed through nine years of clinical experience. Blood Coagulation & Fibrinolysis 1998;9 Suppl 1:S119-23.
43. Ingerslev J, Christiansen K, Sorensen B. Inhibitor to factor VII in severe factor VII deficiency: detection and course of the inhibitory response. Journal of thrombosis and haemostasis: JTH 2005;3:799-800.
44. Bysted BV, Scharling B, Moller T, Hansen BL. A randomized, double-blind trial demonstrating bioequivalence of the current recombinant activated factor VII formulation and a new robust 25 degrees C stable formulation. Haemophilia: the official journal of the World Federation of Hemophilia 2007;13:527-32.
45. Scharling B, Nielsen GG, Klitgaard T, et al. Comparison of coagulant activity of factor VII and activated factor VII activity assays when used for determination of recombinant activated factor VII levels in plasma. Blood coagulation & fibrinolysis: an international journal in haemostasis and thrombosis 2007;18:677-84.
46. Pinotti M, Rizzotto L, Pinton P, et al. Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII. Journal of thrombosis and haemostasis: JTH 2006;4:1308-14.
47. Pinotti M, Rizzotto L, Chuansumrit A, Mariani G, Bernardi F, International Factor VIIDSG. Gentamicin induces sub-therapeutic levels of coagulation factor VII in patients with nonsense mutations. Journal of thrombosis and haemostasis: JTH 2006;4:1828-30.
48. Batorova A, Mariani G, Kavakli K, de Saez AR, Caliskan U, Karimi M, Pinotti M, Napolitano M, Dolce A, Sørensen B, Ingerslev J; STER Study Group. Inhibitors to factor VII in congenital factor VII deficiency. Haemophilia 2014;20: e188-e191.
Rare Coagulation Disorders Resource Room, an extension of the RBDD Registry (eu.rbdd.org), was developed in collaboration with the Indiana Hemophilia & Thrombosis Center (www.innovativehematology.org).
The Resource Room serves as a platform to promote international collaboration to increase knowledge of these very rare disorders and to improve the care of affected individuals. The international RBDD mission, under the leadership of Dr. Peyvandi, will continue to be expanded over time.
The Resource Room thanks all contributing authors of the website articles that have made this valuable information available to the global community of both individuals affected with rare coagulation disorders and their healthcare providers.
