References for the Haemophilia A Mutation Database:

Updated 8 May 2012

Acquila,M., Caprino,D., Pecorara,M., Baudo,F., Morfini,M. and Mori,P.G. (1993) Thromb. Haemost. 69, 392-393.

Acquila, M., Pasino, M., Lanza T., Bottini, F., Molinari, A.C., Bicocchi, M.P. (2004A) Haematologica 89, 758-759.

Acquila M, Pasino M, Lanza T, Molinari AC, Caprino D, Bottini F, Bicocchi, MP. (2004B) Haemophilia 10, 744-746.

Ahmed R, Ivaskevicius V, Kannan M, Seifried E, Oldenburg, J, Saxena, R. (2005) Haematologica 90, 283-284.

Akkarapatumwong, V., Oranwiroon, S., Pung-amritt, P., Treesucon, A., Thanootarakul, P., Veerakul, G., Mahasandana, C., Panyim, S. and Yenchitsomanus, P. Hum. Mutat. Mutation in Brief #286 (1999)

Akkarapatumwong, V., Intorasoot, S., Oranwiroon, S., Thanootarakul, P., Pung-amritt, P.,Veerakul, G., Mahasandana, C., Panyim, S. and Yenchitsomanus, P. Hum. Mutat. Mutation in Brief #381 (2000)

Aly,A.M., Higuchi,M., Kasper,C.K., Kazazian,H.H., Antonarakis,S.E. and Hoyer,L.W. (1992) Proc. Natl. Acad. Sci. USA 89, 4933-4937.

Antonarakis,S.E. et al (1985) NEJM 313, 842-8.

Arai,M., Inaba,H., Higuchi,M., Antonarakis,S.E., Kazazian,H.H., Fujimaki,M. and Hoyer,L.W. (1989) Proc. Natl. Acad. Sci. USA 86, 4277-4281.

Arai,M., Higuchi,M., Antonarakis,S.E., Kazazian,H.H., Phillips,J.A., Janco,R.L. and Hoyer,L.W. (1990) Blood 75, 384-389.

Arruda, V.R., Pieneman, W.C., Reitsma, P.H., Deutz-Terlow, P.P., Annichino-Bizzacchi, J.M., Briet, E. and Costa, F.F. (1995) Blood 86, 3015-3020.

Bagnall, R.D., Waseem, N.H., Green, P.M., Colvin, B., Lee, C. and Gianelli, F. (1999) Brit. J. Haematol. 107, 766-771.

Bardoni,B., Sampietro,M., Romano,M., Crapanzano,C., Mannucci,P.M. and Camerino,G. (1988) Hum. Genet. 79, 86-88.

Bauduer,F., Ducout,L., Bendriss,P., Falaises,B. and Lavergne,J.M. (2001) Haemophilia 7, 419-421.

Becker J, Schwaab R, Moller-Taube A, Schwaab U, Schmidt W, Brackmann HH, Grimm T, Olek K, Oldenburg J. (1996) Am J Hum Genet. 1996;58:657-70.

Berg,L-P., Varon,D., Martinowitz,U., Wieland,K., Kakkar,V.V. and Cooper,D.N. (1994) Blood Coag. Fibrinol. 5, 59-62.

Bernardi,F., Legnani,C., Volinia,S., Patracchini,P., Rodorigo,G., De Rosa,V. and Marchetti,G. (1988) Hum. Genet. 78, 359-362.

Bernardi,F., Volinia,S., Patracchini,P., Gemmati,D., Boninsegna,S., Schwienbacher,D. and Marchetti,G. (1989) Br. J. Haematol. 71, 271-276.

Becker, J., Schwaab, R., Moller-Taube, A., Schwaab, U., Schmidt, W., Brackmann, H.H., Grimm, T., Olek, K. and Oldenburg, J. (1996) Am. J. Hum. Genet. 58, 657-670.

Bicocchi, M.P., Pasino, M., Lanza, T., Bottini, F., Boeri, E., Mori, P.G., Molinari, A.C, Rosano, C. and Acquila, M. (2003) Brit. J. Haematol. 122, 810-817.

Bicocchi MP, Pasino M, Lanza T, Bottini F, Molinari AC, Rosano C and Acquila M (2004) Thromb Haemost 93, 391-2 (letter).

Bicocchi MP, Migeon BR, Pasino M, Lanza T, Bottini F, Boeri E, Molinari AC, Corsolini F, Moreiro C and Acquila M (2005A) Eur. J. Hum. Genet. 13, 635-640.

Bicocchi MP, Pasino M, Lanza T, Bottini F, Molinari AC, Caprino D, Rosano C and Acquila M (2005B) Am J Hematol 78, 117-122.

Bidichandani,S.I., Schiach,C.R., Lanyon,W.G. and Connor,J.M. (1994A) Hum. Mol. Genet. 3, 651-653.

Bidichandani,S.I., Lanyon,W.G. and Connor,J.M. (1994B) Hum. Genet. 94, 447-9.

Bidichandani,S.I., Lanyon,W.G., Schiach, C.R., Lowe, G.D.O. and Connor,J.M., (1995) Hum. Genet. 95, 531-538.

Bogdanova, N., Lemcke, B., Markoff, A., Pollmann, H., Dworniczak, B., Eigel, A. and Horst, J. (2001) Hum. Mutat. Mutation in Brief 461 Online.

Bogdanova, N., Markoff, A., Pollmann, H., Nowak-Gottl, U., Eisert, R., Dworniczak, B., Eigel, A. and Horst, J. (2002) Hum. Mutat. Mutation in Brief 533

Bogdanova, N., Markoff, A., Pollmann, H., Nowak-Gottl, U., Eisert, R., Wermes, C., Todorova, A., Eigel, A., Dworniczak, B., and Horst, J. (2005) Hum. Mutat. 26, 249-254.

Broecker-Vriends,A.H.J.T., Briet,E., Dreesen,J.C.F.M., Bakker,G., Reitsma,P., Pannakoek,H., van de Kamp,J.J.P. and Pearson,P.L. (1990) Hum. Genet. 85, 288-292.

Cai XH, Wang X-F, Dai J, Fang Y, Ding Q-L, Xie F and Wang H-L. (2006) J. Thromb. Haemost. 4, 1969-1974.

Camerino,G., Bardoni,B., Sampietro,M., Romano,M., Crapanzano,G. and Mannucci,P.M. (1986) Ric. Clin. Lab. 16, 227.

Casana P, Haya S, Cid AR, Cabrera N, Angeles M, Lerma V, Cortina V, Sanz J, Querol F and Aznar JA. (2004) Haemophilia 10 (Suppl 3) 73-78 abstract PO11.

Casarino,L., Pecorara,M., Mori,P.G., Morfini,M., Mancuso,G. et al (1986) Ric. Clin. Lab. 16, 227.

Casey,G.J., Rodgers,S.E., Hall,J.R., Rudzki,Z. and Lloyd,J.V. (1999) Brit J Haematol 107, 560-562.

Casula,L., Murru,S., Pecorara,M., Ristaldi,M.S., Restagno,G., Mancuso,G., Morfini,M., DeBiasi,R., Baudo,F., Carbonara,A., Mori,P.G., Cao,A. and Pirastu,M. (1990) Blood 75, 662- 670.

Chan,V., Chan,T.K., Tong,T.M.F. and Todd,D. (1989) Blood 74, 2688-2691.

Chan, V., Pang, A., Chan, T.P.T., Chan, V.W.-Y. and Chan, T.K. (1996) Brit. J. Haematol. 93, 451-456.

Cid AR, Casan P, Haya S, Cabrera N and Aznar JA. (2004) Haemophilia 10 (Suppl 3) 73-78 abstract PO 12.

Citron, M., Godmilow, L., Ganguly, T and Ganguly, A. (2002) Human Mutation 20, 267-274.

Collins,P.W., Jenkins,P.V., Goldman,E., Lee,C.A. and Pasi,K.J. (1994) Lancet 343, 791.

Colvin, B.T., Tagliavacca, L. and Rowley, G. (1996) Haemophilia 2, Suppl. 1, 60 (Abstract 227).

Cooper,D.N. and Krawczak,M. (1993) Human Gene Mutation. Bios Scientific, Oxford.

Cotton,R.G.H., Rodrigues,N.R. and Campbell,R.D. (1988) Proc. Natl. Acad. Sci. USA 85, 4397-4401.

Cutler, JA, Mitchell, MJ, Smith, MP and Savidge, GF (2002) Human Mutation 19, 274-278.

Cutting,G.R., Antonarakis,S.E., Youssoufian,H. and Kazazian,H.H. (1988) Mol. Biol. Med. 5, 173-184.

David,D., Moreira,I., Lalloz,M.R.A., Rosa,H.A.V., Schwaab,R., Morais,S., Diniz,M.J., de Deus,G., Campos,M., Lavinha,J., Johnson,D. and Tuddenham,E.G.D. (1994) Blood Coag. Fibrin. 5, 257-264.

David, D., Tavares, A. and Lavinha, J. (1995) Hum. Genet. 95, 109-111.

De Brasi C, Rossetti L, Goodeve A and Larripa I. (2004) Haemophilia 10 (Suppl 3) 73-78 abstract PO 13.

Diamond,C., Kogan,S., Levinson,B. and Gitschier,J. (1992) Hum. Mutation 1, 248-257.

Din,N., Schwartz,M., Kruse,T., Vestergaard,S.R., Ahrens,P., Scheibel,E., Nordfang,O. and Ezban,M. (1986) Ric. Clin. Lab. 16, 182.

d'Oiron,R., Costa,J.M., Guillet,B., Lavergne,J.M., Rafowicz,A., Verdy,E., Schandelong,A., Tchernia,G., Lambert,T. and Vidaud,M. (2000) Blood 96, 262a.

Dombroski,B.A., Mathias,S.L., Nanthakumar,E., Scott,A.F. and Kazazian,H.H. (1991) Science 254, 1805-1808.

Economou,E.P., Kazazian,H.H. and Antonarakis,S.E. (1992) Genomics 13, 909-911.

Fernandez-Lopez O, Garcia-Lozano JR, Nunez-Vazquez R, Perez-Garrido R and Nunez-Roldan A. (2005) Haematologica 90, 707-710.

Figueiredo,M.S., Bernardi,F. and Zago,M.A. (1992) Eur. J. Haematol. 48, 152-154.

Figueiredo,M.S., Tavella,M.H. and Simoes,B.P. (1994) Hum. Genet. 94, 473-478.

Fodde,R. and Losekoot,M. (1994) Hum. Mutation 3, 83-94.

Franchini M, Girelli D, Olivieri O, Castaman, G, Lippi G, Poli G, Salvagno GL, Tagariello G, Giuffrida A, De Gironcoli M, Morfini M, Berntorp E and Gandini G. (2006) Haemophilia 12, 448-451.

Freson,K Peerlinck,K Aguirre,T Arnout,J Vermylen,J Cassiman,JJ Matthijs,G (1998) Hum. Mutation 11, 470-479.

Frusconi, S., Passerini, I., Girolami, F., Masieri, M., Linari, S., Longo, G., Morfini, M. and Torricelli, F. (2002) Human Mutation: Mutation in Brief #523 Online

Gallardo, D., Vidal, F., Farssac, E., and Xicola, E. (unpublished).

Ganguly A, Dunbar T, Chen P, Godmilow L and Ganguly T. (2003) Hum. Genet. 113, 348-352.

Gau, J.P., Hsu, H.C., Chau, W.K. and Ho, H.C. (2003) Ann. Hematol. 82, 175-177.

Gau JP, Chen C-C, Hsu H-C, Ho C-H, Chau W-K, You J-Y and Yu Y-B. (2006) Blood Coag. Fibrinol. 17, 53-56.

Gitschier,J., Wood,W.I., Goralka,T.M., Wion,K.L., Chen,E.Y., Eaton,D.E., Vehar,G.A., Capon,D.J. and Tuddenham,E.G.D. (1984) Nature 312, 326-330.

Gitschier,J., Wood,W.I., Tuddenham,E.G.D., Shuman,M.A., Goralka,T.M., Chen,E.Y. and Lawn,R.M. (1985) Nature 315, 427-430.

Gitschier,J., Wood,W.I., Shuman,M.A. and Lawn,R.M. (1986) Science 232, 1415-1416.

Gitschier,J., Kogan,S., Levinson,B. and Tuddenham,E.G.D. (1988) Blood 72, 1022-1028.

Gitschier,J., Levinson,B., Lehesjoki,A.-E. and de la Chapelle,A. (1989) Lancet i, 273-274.

Goodeve,A.C., Preston,F.E. and Peake,I.R. (1994) Lancet 343, 329-330.

Goodeve,A.C., Williams, I., Bray, G.L. and Peake,I.R. (2000) Thromb & Haem 83, 844-8.

Goodeve, AC, Hinks, JL, Nesbitt, IM, Sampson, B, Burgess, C, Khair, K, Leisner, R, Kitchen, S, Peake, IR and Makris, M (2001) ISTH abstract P1370.

Green,P.M., Montandon,A.J., Bentley,D.R. and Giannelli,F. (1991) Blood Coag. Fibrinol. 2, 539-565.

Grover,H., Phillips,M.A., Lillicrap,D.P., Giles,A.R., Garvey,M.B., Teitel,J., Rivard,G., Blanchette,V., White,B.N. and Holden,J.J.A. (1987) Clin. Genet. 32, 10-19.

Habart,D, Kalabova,D, Novotny,M and Vorlova,Z. (2003) J Thromb & Haem 1, 773-781.

Haldane,J.B.S. (1935) J. Genet. 31, 317-326.

Haldane,J.B.S. (1947) Ann. Eugenics 13, 262-271.

Handyside,A.H., Pattinson,J.K., Penketh,R.J.A., Delhauty,J.D.A., Winston,R.M.L. and Tuddenham,E.G.D. (1989) Lancet i, 347-349.

Hay,C.R.M. et al (1998a) Thromb. & Haem. 79, 762-6.

Hay,C.R.M. (1998b) Haemophilia. 4, 558-563.

Hayashi,K. and Yandell,D.W. (1993) Hum. Mutation 2, 338-346.

Higuchi,M., Kochhan,L. and Olek,K. (1988) Mol. Biol. Med. 5, 23-27.

Higuchi,M., Kochhan,L., Schwaab,R., Egli,H., Brackmann,H.H., Horst,J. and Olek,K. (1989) Blood 74, 1045-1051.

Higuchi,M., Wong,C., Kochhan,L., Olek,K., Aronis,S., Kasper,C.K., Kazazian,H.H. and Antonarakis,S.E (1990) Genomics 6, 65-71.

Higuchi,M., Antonarakis,S.E., Kasch,L., Oldenburg,J., Petersen,E.E., Olek,K., Inaba,H. and Kazazian,H.H. (1991a) Proc. Natl. Acad. Sci. USA 88, 8307-8311.

Higuchi,M., Kazazian,H.H., Kasch,L., Warren,T.C., McGinniss,M.J., Phillips,J.A., Kasper,C., Janco,R. and Antonarakis,S.E. (1991b) Proc. Natl. Acad. Sci. USA 88, 7405-7409.

Hill M, Deam S, Gordon B and Dolan G (2005) Haemophilia 11, 133-141.

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Hsu,T.C., Liu,Y.-L. and Lin, S.-W. (2001) Thrombosis and Haemostasis Suppl, P1366.

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Jacquemin, M., Lavend'homme, R., Benhida, A., Vanzieleghem, B., d'Oiron, R., Lavergne, J.-M., Brackmann, H.H., Schwaab, R., VandenDriessche, T., Chuah, M.K.L., Hoylaerts, M., Gilles, J.G.G., Peerlinck, K., Vermylen, J. and Saint-Remy, J.-M. R. (2000) Blood 96, 958-965

Jacquemin,M., Pratt,K., Spiegel,C., Stoddard,B., Desqueper,B., Lavend'homme,R., Benhida,A., Gilles,J.G., Peerlinck,K., Vermylen,J., d'Oiron,R., Saint-Remy,J.M. and Lavergne,J.M. (2001) Thrombosis and Haemostasis Suppl, OC194.

Janco,R. and Antonarakis,S.E. (1991b) Proc. Natl. Acad. Sci. USA 88, 7405-7409.

Jayandharan G, Shaji RV, Baidya S, Nair SC, Chandy M and Srivastava A (2005) Haemophilia 11, 481-491.

Johnson, D.J.D., Pemberton, S., Acquila, M., Mori, P.G., Tuddenham, E.G.D. and O'Brien, D.P. (1994) Thromb. Haemos. 71, 428-33.

Jonsdottir,S., Diamond,C., Levinson,B., Magnusson,S., Jensson,O. and Gitschier,J. (1992) Hum. Mutation 1, 506-508.

Kamisue,S., Shima,M., Nishimura,T., Tanaka,I., Nakai,H., Morichika,S., Takata,N., Kuramoto,A. and Yoshioka,A. (1994) Br. J. Haematol. 86, 106-111.

Kariya, K., Silverman, L., Friedman, K., Perry, T., Highsmith, W. and Cooper, H. (1989) Thromb. Haemos. 62, 201.

Kazazian,H.H., Wong,C., Youssoufian,H., Scott,A.F., Phillips,D.G. and Antonarakis,S.E. (1988) Nature 332, 164-166.

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Krepelova,A., Vorlova,Z., Acquila,M. and Mori,P. (1992b) Br. J. Haematol. 81, 458.

Lakich,D., Kazazian,H.H., Antonarakis,S.E. and Gitschier,J. (1993) Nature Genet. 5, 236-241.

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Millar,D.S., Krawczak,M., Tuddenham,E.G.D., Kakkar,V.V. and Cooper,D.N. (1993) Thromb. Haemost. 69, 767.

Moller-Morlang,K., Tavassoli, K., Eigel,A., Pollmann,H. and Horst,J. (1999) Hum. Mutat. Mutation in Brief online #245.

Morichika,S., Shima,M., Kamisue,S., Tanaka,I., Imanaka,Y., Suzuki,H., Shibata,H., Pemberton,S., Gale,K., McVey,J., Tuddenham,E.G.D. and Yoshioka,A. (1997) Brit. J. Haematol. 98, 901-906.

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Nafa,K., Meriane,F., Chellali,T., Benabadji,M., Reghis,A., Viemont,M., Kaplan,J-C. and Delpech,M. (1995) Hum. Mutation 5, 357-359.

Nakaya, S, Liu, M-L and Thompson, AR (2001) Brit J Haem 115, 977-982.

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