(WFRF:(Vinciguerra S.)) srt2:(1995-1999)
Sökning: (WFRF:(Vinciguerra S.)) srt2:(1995-1999) > Factor VIII gene in...
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05210naa a2201069 4500 | |
| 001 | oai:lup.lub.lu.se:0b29fbbb-6f05-46da-bff0-96714fa5a463 | |
| 003 | SwePub | |
| 008 | 200731s1995 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://lup.lub.lu.se/record/0b29fbbb-6f05-46da-bff0-96714fa5a4632 URI |
| 024 | 7 | a https://doi.org/10.1182/blood.v86.6.2206.bloodjournal86622062 DOI |
| 040 | a (SwePub)lu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a art2 swepub-publicationtype |
| 072 | 7 | a ref2 swepub-contenttype |
| 100 | 1 | a Antonarakis, S. E.u University of Geneva Medical School4 aut |
| 245 | 1 0 | a Factor VIII gene inversions in severe hemophilia A : Results of an international consortium study |
| 264 | 1 | b American Society of Hematology,c 1995 |
| 520 | a 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%]). | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Hematologi0 (SwePub)302022 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Hematology0 (SwePub)302022 hsv//eng |
| 700 | 1 | a Rossiter, J. P.4 aut |
| 700 | 1 | a Young, M.4 aut |
| 700 | 1 | a Horst, J.4 aut |
| 700 | 1 | a De Moerloose, P.4 aut |
| 700 | 1 | a Sommer, S. S.4 aut |
| 700 | 1 | a Ketterling, R. P.4 aut |
| 700 | 1 | a Kazazian, H. H.4 aut |
| 700 | 1 | a Négrier, C.4 aut |
| 700 | 1 | a Vinciguerra, C.4 aut |
| 700 | 1 | a Gitschier, J.4 aut |
| 700 | 1 | a Goossens, M.4 aut |
| 700 | 1 | a Girodon, E.4 aut |
| 700 | 1 | a Ghanem, N.4 aut |
| 700 | 1 | a Plassa, F.4 aut |
| 700 | 1 | a Lavergne, J. M.4 aut |
| 700 | 1 | a Vidaud, M.4 aut |
| 700 | 1 | a Costa, J. M.4 aut |
| 700 | 1 | a Laurian, Y.4 aut |
| 700 | 1 | a Lin, S. W.4 aut |
| 700 | 1 | a Lin, S. R.4 aut |
| 700 | 1 | a Shen, M. C.4 aut |
| 700 | 1 | a Lillicrap, D.4 aut |
| 700 | 1 | a Taylor, S. A.M.4 aut |
| 700 | 1 | a Windsor, S.4 aut |
| 700 | 1 | a Valleix, S. V.4 aut |
| 700 | 1 | a Nafa, K.4 aut |
| 700 | 1 | a Sultan, Y.4 aut |
| 700 | 1 | a Delpech, M.4 aut |
| 700 | 1 | a Vnencak-Jones, C. L.4 aut |
| 700 | 1 | a Phillips, J. A.4 aut |
| 700 | 1 | a Ljung, R. C.R.u Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital4 aut0 (Swepub:lu)pedi-rlj |
| 700 | 1 | a Koumbarelis, E.4 aut |
| 700 | 1 | a Gialeraki, A.4 aut |
| 700 | 1 | a Mandalaki, T.4 aut |
| 700 | 1 | a Jenkins, P. V.4 aut |
| 700 | 1 | a Collins, P. W.4 aut |
| 700 | 1 | a Pasi, K. J.4 aut |
| 700 | 1 | a Goodeve, A.4 aut |
| 700 | 1 | a Peake, I.4 aut |
| 700 | 1 | a Preston, F. E.4 aut |
| 700 | 1 | a Schwartz, M.4 aut |
| 700 | 1 | a Scheibel, E.4 aut |
| 700 | 1 | a Ingerslev, J.4 aut |
| 700 | 1 | a Cooper, D. N.4 aut |
| 700 | 1 | a Millar, D. S.4 aut |
| 700 | 1 | a Kakkar, V. V.4 aut |
| 700 | 1 | a Giannelli, F.4 aut |
| 700 | 1 | a Naylor, J. A.4 aut |
| 700 | 1 | a Tizzano, E. F.4 aut |
| 700 | 1 | a Baiget, M.4 aut |
| 700 | 1 | a Domenech, M.4 aut |
| 700 | 1 | a Altisent, C.4 aut |
| 700 | 1 | a Tusell, J.4 aut |
| 700 | 1 | a Beneyto, M.4 aut |
| 700 | 1 | a Lorenzo, J. I.4 aut |
| 700 | 1 | a Gaucher, C.4 aut |
| 700 | 1 | a Mazurier, C.4 aut |
| 700 | 1 | a Peerlinck, K.4 aut |
| 700 | 1 | a Matthijs, G.4 aut |
| 700 | 1 | a Cassiman, J. J.4 aut |
| 700 | 1 | a Vermylen, J.4 aut |
| 700 | 1 | a Mori, P. G.4 aut |
| 700 | 1 | a Acquila, M.4 aut |
| 700 | 1 | a Caprino, D.4 aut |
| 700 | 1 | a Inaba, H.4 aut |
| 710 | 2 | a University of Geneva Medical Schoolb Pediatrik, Lund4 org |
| 773 | 0 | t Bloodd : American Society of Hematologyg 86:6, s. 2206-2212q 86:6<2206-2212x 0006-4971x 1528-0020 |
| 856 | 4 | u http://dx.doi.org/10.1182/blood.v86.6.2206.bloodjournal8662206y FULLTEXT |
| 856 | 4 | u https://ashpublications.org/blood/article-pdf/86/6/2206/617486/2206.pdf |
| 856 | 4 8 | u https://lup.lub.lu.se/record/0b29fbbb-6f05-46da-bff0-96714fa5a463 |
| 856 | 4 8 | u https://doi.org/10.1182/blood.v86.6.2206.bloodjournal8662206 |
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- Antonarakis, S. ...
- Rossiter, J. P.
- Young, M.
- Horst, J.
- De Moerloose, P.
- Sommer, S. S.
- visa fler...
- Ketterling, R. P ...
- Kazazian, H. H.
- Négrier, C.
- Vinciguerra, C.
- Gitschier, J.
- Goossens, M.
- Girodon, E.
- Ghanem, N.
- Plassa, F.
- Lavergne, J. M.
- Vidaud, M.
- Costa, J. M.
- Laurian, Y.
- Lin, S. W.
- Lin, S. R.
- Shen, M. C.
- Lillicrap, D.
- Taylor, S. A.M.
- Windsor, S.
- Valleix, S. V.
- Nafa, K.
- Sultan, Y.
- Delpech, M.
- Vnencak-Jones, C ...
- Phillips, J. A.
- Ljung, R. C.R.
- Koumbarelis, E.
- Gialeraki, A.
- Mandalaki, T.
- Jenkins, P. V.
- Collins, P. W.
- Pasi, K. J.
- Goodeve, A.
- Peake, I.
- Preston, F. E.
- Schwartz, M.
- Scheibel, E.
- Ingerslev, J.
- Cooper, D. N.
- Millar, D. S.
- Kakkar, V. V.
- Giannelli, F.
- Naylor, J. A.
- Tizzano, E. F.
- Baiget, M.
- Domenech, M.
- Altisent, C.
- Tusell, J.
- Beneyto, M.
- Lorenzo, J. I.
- Gaucher, C.
- Mazurier, C.
- Peerlinck, K.
- Matthijs, G.
- Cassiman, J. J.
- Vermylen, J.
- Mori, P. G.
- Acquila, M.
- Caprino, D.
- Inaba, H.
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