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  • Antonarakis, S.E., Rossiter, J.P., Young, M., Horst, J., De Moerloose, P., Sommer, S.S., Ketterling, R.P., Kazazian, Jr, H.H., Negrier, 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., Windsor, S., Valleix, S.V., Nafa, K., Sultan, Y., Delpech, M., Vnencak-Jones, C.L., Phillips, III, J.A., Ljung, R.C., 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. (1995) Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood, 86, 22062212.
  • Bagnall, R.D., Waseem, N.H., Green, P.M., Colvin, B., Lee, C. & Giannelli, F. (1999) Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191 bp cryptic exon in two haemophilia A patients. British Journal of Haematology, 107, 766771.
  • Bagnall, R.D., Waseem, N., Green, P.M. & Giannelli, F. (2002) Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood, 99, 168174.
  • Bagnall, R.D., Giannelli, F. & Green, P.M. (2006a) Inversions causing hemophilia A: novel insight into their origin and a new more discriminant PCR test for their detection. Journal of Thrombosis and Haemostasis, 4, 591598.
  • Bagnall, R.D., Giannelli, F. & Green, P.M. (2006b) Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture. Journal of Thrombosis and Haemostasis, 31, 25982599.
  • Batzer, M.A. & Deininger, P.L. (1996) Alu repeats and human genomic diversity. Nature Reviews Genetics, 3, 370379.
  • Becker, J., Schwaab, R., Moller-Taube, A., Schwaab, U., Schmidt, W., Brackmann, H.H., Grimm, T., Olek, K. & Oldenburg, J. (1996) Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. American Journal of Human Genetics, 58, 657670.
  • Bininda-Emonds, O.R.P., Cardillo, M., Jones, K.E., MacPhee, R.D.E., Beck, R.M.D., Grenyer, R., Price, S.A., Vos, R.A., Gittleman, J.L. & Purvis, A. (2007) The delayed rise of present-day mammals. Nature, 446, 507512.
  • Bogdanova, N., Markoff, A., Eisert, R., Wermes, C., Pollmann, H., Todorova, A., Chlystun, M., Nowak-Göttl, U. & Horst, J. (2007) Spectrum of molecular defects and mutation detection rate in patients with mild and moderate haemophilia A. Human Mutation, 28, 5460.
  • Colvin, B., Tagliavacca, L. & Rowley, G. (1996) Analysis of the FVIII mutation in the sporadic patients with 2 or 3 generation families from the Royal London Hospital. Haemophilia 2, Suppl. 1, 60 abstr. 227.
  • Dai, L., Cutler, J.A., Savidge, G.F. & Mitchell, M.J. (2008) Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene (F8). Journal of Thrombosis and Haemostasis, 6, 193195.
  • Den Dunnen, J.T. & Antonarakis, E. (2001) Nomenclature for the description of human sequence varaitions. Human Genetics, 109, 121124.
  • Figueiredo, M.S. & Brownlee, G.G. (1995) Cis-acting elements and transcription factors involved in the promoter activity of the human factor VIII gene. Journal of Biological Chemistry, 270, 1182811838.
  • Giannelli, F. & Brownlee, G.G. (1986) Cause of the “inhibitor” phenotype in the haemophilias. Nature, 320, 196.
  • Graw, J., Brackmann, H.H., Oldenburg, J., Scheppenheim, R., Spannagl, M. & Schwaab, R. (2005) Haemophilia A: from mutation analysis to new therapies. Nature Reviews Genetics, 6, 488501.
  • Green, P.M., Montandon, A.J., Ljung, R., Bentley, D.R., Nilsson, I.M., Kling, S. & Giannelli, F. (1991) Haemophilia B mutations in a complete Swedish population sample. A test for the new strategy for genetic counselling of diseases with high mutational hetrogeneity. British Journal of Haematology, 78, 390397.
  • Haldane, J.B.S. (1935) The rate of spontaneous mutation of a human gene. Journal of Genetics, 31, 317326.
  • Hay, C.R., Ludlam, C.A., Colvin, B.T., Hill, F.G., Preston, F.E., Wasseem, N., Bagnall, R., Peake, I.R., Berntorp, E., Mauser Bunschoten, E.P., Fijnvandraat, K., Kasper, C.K., White, G. & Santagostino, E. (1998) Factor VIII inhibitors in mild and moderate-severity haemophilia A. UK Haemophilia Centre Directors Organisation. Thrombosis and Haemostasis, 79, 762766.
  • Higuchi, M., Kazazian, Jr, H.H., Kasch, L., Warren, T.C., McGinniss, M.J., Phillips, III, J.A., Kasper, C., Janco, R. & Antonarakis, S.E. (1991) Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. Proceedings of the National Academy of Sciences of the United States of America, 88, 74057409.
  • Huber, C., Oefner, P. & Bonn, G. (1995) Rapid and accurate sizing of DNA fragments by ion-pair chromatography on alkylated non-porous poly(styrenedivinylbenzine) particles. Analytical Chemistry, 67, 578585.
  • Lakich, D., Kazazian, Jr, H.H., Antonarakis, S.E. & Gitschier, J. (1993) Inversions disrupting the factor VIII gene are a common cause of hemophilia A. Nature Genetics, 5, 236241.
  • Liu, Q., Nozari, G. & Sommer, S.S. (1998) Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood, 92, 14581459.
  • McGlynn, L.K., Mueller, C.R., Begbie, M., Notley, C.R. & Lillicrap, D. (1996) Role of the liver-enriched transcription factor hepatocyte nuclear factor 1 in transcriptional regulation of the factor VIII gene. Molecular and Cellular Biology, 16, 19361945.
  • Mibashan, R.S., Giannelli, F., Pembrey, M.E. & Rodeck, C.H. (1986) The antenatal diagnosis of clotting disorders. In: Advanced Medicine 21 (ed. by M.J.Brown), pp. 415–438. Churchill Livingstone, Edinburgh.
  • Mumford, A.D., Laffan, M., O’Donnell, J., McVey, J.H., Johnson, D.J.D., Manning, R.A. & Kemball-Cook, G. (2002) A Tyr346[RIGHTWARDS ARROW]Cys substitution in the interdomain acidic region a1 of factor VIII in an individual with factor VIII:C assay discrepancy. British Journal of Haematology, 118, 589594.
  • Naylor, J.A., Green, P.M., Montandon, A.J., Rizza, C.R. & Giannelli, F. (1991) Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene. Lancet, 337, 635639.
  • Naylor, J.A., Green, P.M., Rizza, C.R. & Giannelli, F. (1992) Factor VIII gene explains all cases of haemophilia A. Lancet, 340, 10661067.
  • Naylor, J., Brinke, A., Hassock, S., Green, P.M. & Giannelli, F. (1993a) Characteristic mRNA abnormality found in half the patients with severe hemophilia A is due to large DNA inversions. Human Molecular Genetics, 2, 17731778.
  • Naylor, J.A., Green, P.M., Rizza, C.R. & Giannelli, F. (1993b) Analysis of factor VIII mRNA reveals defects in every one of 28 haemophilia A patients. Human Molecular Genetics, 2, 1117.
  • Oldenburg, J., Schröder, J., Schmitt, C., Brackmann, H.H. & Schwaab, R. (1998) Small deletion/insertion mutations within Poly-A runs of the factor viii gene mitigate the severe haemophilia A phenotype. Thrombosis and Haemostasis, 79, 452453.
  • Paulsen, M., Lund, C., Akram, Z., Winther, J.R., Horn, N. & Møller, L.B. (2006) Evidence that translation reinitiation leads to a partially functional menkes protein containing two copper-binding sites. American Journal of Human Genetics, 79, 214229.
  • Rizza, C.R., Spooner, R.D.J. & Giangrande, P.L.F. (2001) Treatment of haemophilia in the United Kingdom 1981-1996. Haemophilia, 7, 349359.
  • Ronn, A.-C. (2002) Analysis of Sequence Variations in the Factor VIII Gene in Haemophilia A Patients. MSc project published electronically at http://www.ibg.uu.se/upload/2002-10-04_211206_355/1_02035.pdf
  • Rowley, G., Saad, S., Giannelli, F. & Green, P.M. (1995) Ultrarapid mutation detection by multiplex solid-phase chemical cleavage. Genomics, 30, 574582.
  • Schroeder, J., El-Maarri, O., Schwaab, R., Mueller, C.R. & Oldenburg, J. (2006) Factor VIII intron-1 inversion: frequency and inhibitor prevalence. Journal of Thrombosis and Haemostasis, 4, 11411143.
  • Tagliavacca, L., Rowley, G., Green, P.M., Hatden, S., Woosey, C., Colvin, B. & Giannelli, F. (1997) Analysis of the haemophilia A mutation in sporadic patients registered at the Royal London Hospital and their families. Haemophilia, 3, 177182.
  • Waseem, N.M., Bagnall, R., Green, P.M., Giannelli, F. & Haemophilia Centres. (1999) Start of UK haemophilia A database: analysis of 140 patients by solid phase fluorescent chemical cleavage of mismatch. Thrombosis and Haemostasis, 81, 900905.
  • Young, M., Inaba, H., Hoyer, L.W., Higuchi, M., Kazazian, Jr, H.H. & Antonarakis, S.E. (1997) Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene. American Journal of Human Genetics, 60, 565573.