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1.	Antonarakis, S. E., et al. (author) Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study 1995 In: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 86:6, s. 2206-2212 Journal article (peer-reviewed)abstract Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells ware observed among 225 cases (≃ 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]).
2.	Bounameaux, H, et al. (author) An exploratory trial of two dosages of a novel synthetic thrombin inhibitor (napsagatran, Ro 46-6240) compared with unfractionated heparin for treatment of proximal deep-vein thrombosis -- results of the European multicenter ADVENT trial 1997 In: Thrombosis and haemostasis. - 0340-6245. ; 78:3, s. 997-1002 Journal article (peer-reviewed)
3.	Astermark, J., et al. (author) Symposium in memory of Professor Inga Marie Nilsson 2001 In: Haemophilia. - : Wiley. - 1351-8216. ; 7:4, s. 401-410 Conference paper (peer-reviewed)abstract Professor Inga Marie Nilsson (1923-99) was a pioneer in the field of bleeding and thrombo-embolic disorders and made several major scientific contributions during her career. To honour her memory, colleagues from all over the world were invited to cover several aspects of haemostasis by giving state-of-the-art lectures at an international symposium in Malmö on September 22-23, 2000, chaired by Professors Lou Aledort and Erik Berntorp. Colleagues of Professor Nilsson in Malmö gave a short introduction to each topic. A short review of the meeting will be presented.
4.	White, GC, et al. (author) A multicenter study of recombinant factor VIII (Recombinate) in previously treated patients with hemophilia A. The Recombinate Previously Treated Patient Study Group 1997 In: Thrombosis and haemostasis. - 0340-6245. ; 77:4, s. 660-667 Journal article (peer-reviewed)
5.	Guardiola, P, et al. (author) Allogeneic stem cell transplantation for Fanconi Anaemia. Severe Aplastic Anaemia Working Party of the EBMT and EUFAR. European Group for Blood and Marrow Transplantation 1998 In: Bone marrow transplantation. - 0268-3369. ; 2121 Suppl 2, s. S24-S27 Journal article (peer-reviewed)
6.	Zeidler, C, et al. (author) Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry 2014 In: Haematologica. - : Ferrata Storti Foundation (Haematologica). - 1592-8721 .- 0390-6078. ; 99:8, s. 1395-1402 Journal article (peer-reviewed)

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Type of publication: journal article (5); conference paper (1)

Type of content: peer-reviewed (6)

Author/Editor: Laurian, Y (2); Bernard, C. (1); Schwartz, M. (1); Krammer, B. (1); Williams, L. (1); Lee, M (1); show more...; Green, D. (1); Johansson, E (1); Holmberg, L (1); Krivan, G (1); Notheis, G (1); Mannucci, P (1); Neufeld, E (1); Dufour, C. (1); Ljungman, P (1); White, G (1); Schulman, S (1); Larfars, G (1); Carlsson, G. (1); Brand, B (1); Gill, J (1); Pasquini, R. (1); Berntorp, E (1); Inaba, H (1); Locatelli, F (1); Petersson, C (1); Aledort, L (1); Young, M (1); Tjonnfjord, GE (1); Hofmann, B. (1); Cahn, JY (1); Cooper, H (1); Socie, G (1); Dahlbäck, B (1); Ljung, R (1); Goossens, M (1); Antonarakis, S. E. (1); Rossiter, J. P. (1); Horst, J. (1); De Moerloose, P. (1); Sommer, S. S. (1); Ketterling, R. P. (1); Kazazian, H. H. (1); Négrier, C. (1); Vinciguerra, C. (1); Gitschier, J. (1); Girodon, E. (1); Ghanem, N. (1); Plassa, F. (1); Lavergne, J. M. (1); show less...

University: Karolinska Institutet (4); Lund University (2)

Language: English (6)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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