Publications

Bowen DJ (2002). Haemophilia A and haemophilia B: molecular insights. Mol. Pathol. 55: 1-18. http://dx.doi.org/10.1136/mp.55.1.1 PMid:11836440    PMCid:1187139 Bowen DJ, De Brasi CD, Larripa IB and Collins PW (2000). A new polymorphism in the human factor VIII gene: implications for linkage analysis in haemophilia A and for the evolution of int22h sequences. Br. J. Haematol. 111: 544-548. http://dx.doi.org/10.1046/j.1365-2141.2000.02373.x PMid:11122098 Chan V, Tong TM, Chan TP, Tang M, et al. (1989). Multiple XbaI polymorphisms for carrier detection and prenatal diagnosis of haemophilia A. Br. J. Haematol. 73: 497-500. http://dx.doi.org/10.1111/j.1365-2141.1989.tb00287.x PMid:2575402 Choi YM, Hwang D, Choe J, Jun JK, et al. (2000). Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by PCR-based analysis of the BclI/intron 18 and St14 VNTR polymorphisms. J. Hum. Genet. 45: 218- 223. http://dx.doi.org/10.1007/s100380070030 PMid:10944851 De Brasi CD, Bowen DJ, Collins PW and Larripa IB (1999). Specific analysis of the intron 22 XbaI polymorphism of the human factor VIII gene using long-distance PCR. Br. J. Haematol. 107: 566-568. http://dx.doi.org/10.1046/j.1365-2141.1999.01731.x PMid:10583260 El-Maarri O, Oldenburg J and Caglayan SH (1999). Intron 22-specific long PCR for the Xba I polymorphism in the factor VIII gene. Br. J. Haematol. 105: 1120-1122. http://dx.doi.org/10.1046/j.1365-2141.1999.01430.x PMid:10554830 Gitschier J, Wood WI, Goralka TM, Wion KL, et al. (1984). Characterization of the human factor VIII gene. Nature 312: 326-330. http://dx.doi.org/10.1038/312326a0 PMid:6438525 Gitschier J, Drayna D, Tuddenham EGD, White RL, et al. (1985). Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene. Nature 314: 738-740. http://dx.doi.org/10.1038/314738a0 PMid:2986011 Jeffreys AJ, Royle NJ, Wilson V and Wong Z (1988). Spontaneous mutation rates to new length alleles at tandem-repetitive hypervariable loci in human DNA. Nature 332: 278-281. http://dx.doi.org/10.1038/332278a0 PMid:3347271 Kogan SC, Doherty M and Gitschier J (1987). An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N. Engl. J. Med. 317: 985-990. http://dx.doi.org/10.1056/NEJM198710153171603 PMid:3657865 Lakich D, Kazazian HH Jr, Antonarakis SE and Gitschier J (1993). Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet. 5: 236-241. http://dx.doi.org/10.1038/ng1193-236 PMid:8275087 Lalloz MR, McVey JH, Pattinson JK and Tuddenham EG (1991). Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene. Lancet 338: 207-211. http://dx.doi.org/10.1016/0140-6736(91)90348-S Lalloz MRA, McVey JH, Michaelides K and Tudenham EG (1992). Haemophilia A diagnosis by analysis of a novel dinucleotide tandem repeat sequence within the factor VIII gene. Br. J. Haematol. 80: 3a. Lalloz MR, Schwaab R, McVey JH, Michaelides K, et al. (1994). Haemophilia A diagnosis by simultaneous analysis of two variable dinucleotide tandem repeats within the factor VIII gene. Br. J. Haematol. 86: 804-809. http://dx.doi.org/10.1111/j.1365-2141.1994.tb04833.x Lee MR, Park SH, Choi YM, Jun JK, et al. (2009). Carrier detection and prenatal diagnosis of hemophilia A in a Korean population by fluorescent pcr analysis of dinucleotide repeats in intron 13 and intron 22 of the factor VIII gene. Korean J. Obstet. Gynecol. 52: 552-558. Levinson B, Kenwrick S, Lakich D, Hammonds G Jr, et al. (1990). A transcribed gene in an intron of the human factor VIII gene. Genomics 7: 1-11. http://dx.doi.org/10.1016/0888-7543(90)90512-S Levinson B, Kenwrick S, Gamel P, Fisher K, et al. (1992). Evidence for a third transcript from the human factor VIII gene. Genomics 14: 585-589. http://dx.doi.org/10.1016/S0888-7543(05)80155-7 Liu Q, Nozari G and Sommer SS (1998). Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 92: 1458-1459. PMid:9694739 Naylor J, Brinke A, Hassock S, Green PM, et al. (1993). Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum. Mol. Genet. 2: 1773-1778. http://dx.doi.org/10.1093/hmg/2.11.1773 PMid:8281136 Naylor JA, Buck D, Green P, Williamson H, et al. (1995). Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum. Mol. Genet. 4: 1217-1224. http://dx.doi.org/10.1093/hmg/4.7.1217 PMid:8528212 Peake IR, Lillicrap DP, Boulyjenkov V, Briet E, et al. (1993). Haemophilia: strategies for carrier detection and prenatal diagnosis. Bull. World Health Organ. 71: 429-458. PMid:8324863    PMCid:2393505 Richards B, Heilig R, Oberle I, Storjohann L, et al. (1991). Rapid PCR analysis of the St14 (DXS52) VNTR. Nucleic Acids Res. 19: 1944. http://dx.doi.org/10.1093/nar/19.8.1944 PMid:1674370    PMCid:328130 Rubinsztein DC, Amos W, Leggo J, Goodburn S, et al. (1995). Microsatellite evolution - evidence for directionality and variation in rate between species. Nat. Genet. 10: 337-343. http://dx.doi.org/10.1038/ng0795-337 PMid:7670473 Tuddenham EG, Schwaab R, Seehafer J, Millar DS, et al. (1994). Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucleic Acids Res. 22: 4851-4868. http://dx.doi.org/10.1093/nar/22.22.4851 PMid:7984443    PMCid:308545 Van de Water NS, May SJ and Browett PJ (1994). Possible misdiagnosis using the Xba I polymorphism for prenatal diagnosis of haemophilia A. Br. J. Haematol. 88: 613-614. http://dx.doi.org/10.1111/j.1365-2141.1994.tb05081.x PMid:7819074 Wion KL, Tuddenham EG and Lawn RM (1986). A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. Nucleic Acids Res. 14: 4535-4542. http://dx.doi.org/10.1093/nar/14.11.4535 PMid:3012474    PMCid:311463