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2012
S. H. Park, Chung, N., Lee, M. R., Yoo, S. K., and Choi, Y. M., Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia A in a Korean population, vol. 11, pp. 1-9, 2012.
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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