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Luận văn Thạc sĩ Tài liệu tham khảo 85 TÀI LIỆU THAM KHẢO Tài liệu tiếng Việt 1. Đỗ Thị Thanh Thủy, Nguyễn Thị Thanh Minh, Nguyễn Thị Hoàng Phưong, Phùng Như Toàn, Phạm Việt Thanh, Trương Đình Kiệt, Trần Thị Trung Chiến (2009), “So sánh các thông số tầm soát trước sinh ở nhóm thai phụ mang thai bình thường và nhóm thai phụ mang thai hội chứng Down”, Tạp chí Y học Tp. Hồ Chí Minh, 13(1), trang 204-210. 2. Hoàng Thị Ngọc Lan, Nguyễn Việt Hùng, Trần Danh Cường, Trịnh Văn Bảo, Trần Thị thanh Hương (2006), “Phân tích nhiễm sắc thể của tế bào ối nuôi cấy có đối chiếu với kết quả của siêu âm thai và test sàng lọc trước sinh”, Tạp Chí Nghiên Cứu Y Học, 1, trang 47-53. 3. Hoàng Thu Lan, Trần Thị Thanh Hương, Hoàng Thị Ngọc Lan (2006), “Hoàn chỉnh kỹ thuật lai tại chỗ huỳnh quang và bước đầu ứng dụng trong chẩn đoán trước sinh hội chứng Down”, Tạp Chí Nghiên Cứu Y Học, 1, trang 35-41. 4. Trần Thị Thanh Hương, Hoàng Thu Lan, Hoàng Thị Ngọc Lan, Nguyễn Thị Quỳnh Thơ, Nguyễn Danh Cường (2007), “Chẩn đoán trước sinh hội chứng Down, hội chứng Turner bằng kỹ thuật lai tại chỗ huỳnh quang kết hợp phân tích nhiễm sắc thể của tế bào ối”, Tạp Chí Nghiên Cứu Y Học, 47, trang 4-8. Tài liệu tiếng Anh 5. Arron, J.R., Winslow, M.M., Polleri, A., Chang, C.P., Wu, H., Gao, X., Neilson, J.R., Chen, L., Heit, J.J., Kim, S.K., Yamasaki, N., Miyakawa, T., Francke, U., Graef, I.A. and Crabtree, G.R. (2006), “NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21”, Nature, 441(7093), pp. 595-600. Luận văn Thạc sĩ Tài liệu tham khảo 86 6. Boghosian-Sell, L., Mewar, R., Harrison, W., Shapiro, R.M., Zackai, E.H., Carey, J., Davis-Keppen, L., Hudgins, L. and Overhauser, J. (1994), “Molecular mapping of the Edwards Syndrome phenotype to two noncontiguous regions on chromosome 18”, Am. J. Hum. Genet., 55(3), pp. 476-483. 7. Cho, A.R., Kim, H.R., Lee, M.K., Yun, S.W. and Lee, J.J. (2009), “Partial trisomy of chromosome 18q11.2-q12: A case report”, Korean J. Pediatr., 52(10), pp. 1171-1174. 8. Chodirker, B.N., Cadrin, C., Davies, G.A.L., Summers, A.M., Wilson, R.D., Winsor, E.J.T. and Young, D. (2001), “Canadian Guidelines for Prenatal Diagnosis: Genetic Indications for Prenatal Diagnosis”, SOSC Clinical Practice Guideline, 105. 9. Chodirker, B.N., Cadrin, C., Davies, G.A.L., Summers, A.M., Wilson, R.D., Winsor, E.J.T. and Young, D. (2001), “Canadian Guidelines for Prenatal Diagnosis: Techniques of Prenatal Diagnosis”, SOSC Clinical Practice Guideline, 105. 10. Davies, K.J.A., Ermak, G., Rothermel, B.A., Pritchard, M., Heitman, J., Ahnn, J., Henrique-Silva, F., Crawford, D., Canaider, S., Strippoli, P., Carinci, P., Min, K.-T., Fox, D.S., Cunningham, K.W, Bassel-Duby, R., Olson, E.N., Zhang, Z., Williams, R.S., Gerber, H-P., Pérez-Riba, M., Seo, H., Cao, X., Klee, C.B., Redondo, J.M., Maltais, L.J., Bruford, E.A., Povey, S., Molkentin, J.D., McKeon, F.D., Duh, E.J., Crabtree, J.R., Cyert, M.S., de la Luna, S. and Estivil, X. (2007), “Renaming the DSCR1/Adapt78 gene family as RCAN: regulators of calcineurin”, FASEB Journal, 21(12), pp. 3023-3028. 11. Dudarewicz, L., Holzgreve, W., Jeziorowska, A., Jakubowski, L. and Zimmermann, B. (2005), “Molecular methods for rapid detection of aneuploidy”, J. Appl. Genet., 46(2), pp. 207-215. Luận văn Thạc sĩ Tài liệu tham khảo 87 12. Engidawork, E., Juranville, J.F., Fountoulakis, M., Dierssen, M. and Lubec, G. (2001), “Selective upregulation of the ubiquitin-proteasome proteolytic pathway proteins, proteasome zeta chain and isopeptidase T in fetal Down syndrome”, J. Neural Transm Suppl., (61), pp. 117-130. 13. Evans, M.I., Henry, G.P., Miller, W.A., Bui, T.H., Snidjers, R.J., Wapner, R.J., Miny, P., Johnson, M.P., Peakman, D., Johnson, A., Nicolaides, K., Holzgreve, W., Ebrahim, S.A., Babu, R. and Jackson, L. (1999), “International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome specific probes and fluorescent in-situ hybridization are used”, Human Reproduction, 14(5), pp. 1213-1216. 14. Frye, A. (1997), Understanding Diagnostic Tests in the Childbearing Year: A Holistic Guide to Evaluating the Health of Mother & Baby, 6th Edition, Labrys Press, New Jersey. 15. Fuentes, J.J., Genescà, L., Kingsbury, T.J., Cunningham, K.W., Pérez-Riba, M., Estivil, X. and de la Luna, S. (2000), “DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways”, Hum. Mol. Genet., 9(11), pp.1681-1690. 16. Gardiner, K., Fortna, A., Bechtel, L. and Davission, M.T. (2003), “Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions”, Gene, 318, pp. 137-147. 17. Gerdes, T., Kirchhoff, M. and Bryndorf, T. (2005), “Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by acommercial kit for prenatal aneuploidy detection)”, Electrophoresis, 26(22), pp. 4327-4332. Luận văn Thạc sĩ Tài liệu tham khảo 88 18. Gerdes, T., Kirchhoff, M., Lind, A.M., Larsen, G.V., Schwartz, M. and Lundsteen, C. (2005), “Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)”, Eur. J. Hum. Genet., 13(2), pp. 171-175. 19. Gersen, S.L. and Keagle, M.B. (2005), The Principles of Clinical Cytogenetics, 2nd Edition, Humana Press, Totowa. 20. Grant, S.S. (2005), “Options for Down Syndrome Screening: What Will Women Choose?”, J. Midwifery & Women’s Health, 50(3), pp. 211-218. 21. Hahn, S. and Jackson, L.G. (2008), Prenatal Diagnosis, Humana Press, Totowa. 22. Harris, C.D., Ermak, G. and Davies, K.J. (2005), “Multiple roles of the DSCR1 (Adapt78 or RCAN1) gene and its protein product Calcipressin 1 (or RCAN1) in disease”, Cell Mol. Life Sci., 62(21), pp. 2477-2486. 23. Hattori, M., Fujiyama, A., Taylor, T.D., Watanabe, H., Yada, T., Park, H.-S., Toyoda, A., Ishii, K., Totoki, Y., Choi, D.-K., Soeda, E., Ohki, M., Takagi, T., Sakaki, Y., Taudien, S., Blechschmidt, K., Polley, A., Menzel, U., Delabar, J., Kumpf, K., Lehmann, R., Patterson, D., Reichwald, K., Rump, A., Schillhabel, M., Schudy, A., Zimmermann, W., Rosenthal, A., Kudoh, J., Shibuya, K., Kawasaki, K., Asakawa, S., Shintani, A., Sasaki, T., Nagamine, K., Mitsuyama, S., Antonarakis, S.E., Minoshima, S., Shimizu, N., Nordsiek, G., Hornischer, K., Brandt, P., Scharfe, M., Schön, O., Desario, A., Reichelt, J., Kauer, G., Blöcker, H., Ramser, J., Beck, A., Klages, S., Hennig, S., Riesselmann, L., Dagand, E., Haaf, T., Wehrmeyer, S., Borzym, K., Gardiner, K., Nizetic, D., Francis, F., Lehrach, H., Reinhardt, R. and Yaspo, M.-L. (2000), “The DNA sequence of human chromosome 21”, Nature, 405(6784), pp.311-319. Luận văn Thạc sĩ Tài liệu tham khảo 89 24. Helali, N., Iafolla, A.K., Kahler, S.G. and Qumsiyeh M.B. (1996), “A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited”, J. Med. Genet., 33(7), pp. 600-602. 25. Hirano, Y. Hendil, K.B., Yashiroda, H., Iemura, S., Nagane, R., Hioki, Y., Natsume, T., Tanaka, K. and Murata, S. (2005), “A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes”, Nature, 437(7063), pp.1381-1385. 26. Hochstenbach, R., Meijer, J., van de Brug, J., Vossebeld-Hoff, I., Jansen, R., van der Luijt, R.B., Sinke, R.J., Page-Christiaens, G.C., Ploos van Amstel, J.K. and de Pater, J.M. (2005), “Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)”, Prenatal Diagnosis, 25(11), pp. 1032-1039. 27. Hogge, W.A., Byrnes, A.L., Lanasa, M.C. and Surti, U. (2003), “The clinical use of karyotyping spontaneous abortions”, Am. J. Obstet. Gynecol., 189(2), pp. 397-402. 28. Lewin, P., Kleinfinger, P., Bazin, A., Mossafa, H. and Szpiro-Tapia, S. (2000), “Defining the efficiency of fluorescence in situ hybridization on uncultured amniocytes on a retrospective cohort of 27407 prenatal diagnoses”, Prenatal Diagnosis, 20(1), pp. 1-6. 29. Matsuoka, R., Matsuyama, S., Yamamoto, Y., Kuroki, Y. and Matsui, I. (1981), “Trisomy 18q: a case report and review of karyotype-phenotype correlations”, Human Genetics, 57(1), pp. 78-82. 30. Menkes, J.H. and Sarnat, H.B. (2000), Child Neurology, 6th Edition, Lippincott Williams & Wilkins, Los Angeles. 31. MRC-Holland (2009), Designing synthetic MLPA probes, version 10. Luận văn Thạc sĩ Tài liệu tham khảo 90 32. MRC-Holland (2010), Manual spreadsheet-based MLPA analysis, version 3. 33. MRC-Holland (2010), Interpretation of MLPA results, version 2. 34. Muecke, J., Trautmann, U., Sandig, K.R. and Theile, H. (1982), “The crucial band for phenotype of trisomy 18”, Human Genetics, 60(2), pp. 205. 35. Van Opstal, D., Boter, M., de Jong, D., van den Berg, C., Brüggenwirth, H.T., Wildschut, H.I., de Klein, A. and Galjaard, R.J. (2009), “Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples”, Eur. J. Hum. Genet., 17(1), pp. 112-121. 36. Owen, W.E. and Roberts, W.L. (2003), “Comparison of five automated serum and whole blood folate assays”, Am. J. Clin. Pathol., 120(1), pp. 121-126. 37. Peach, E. and Hopkin, R. (2007), “Advances in Prenatal Genetic Testing: Current Options, Benefits, and Limitations”, Newborn and Infant Nursing Reviews, 7(4), pp. 205-210. 38. Ryall, R.G., Callen, D., Cocciolone, R., Duvnjak, A., Esca, R., Frantzis, N., Gjerde, E.M., Haan, E.A., Hocking, T., Sutherland, G., Thomas, D.W. and Webb, F. (2001), “Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening”, Prenatal Diagnosis, 21(7), pp. 553-557. 39. Schouten, J.P., McElgunn, C.J., Waaijer, R., Zwijnenburg, D., Diepvens, F. and Pals, G. (2002), “Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification”, Nucl. Acids Res., 30(12), pp. e57. 40. Shen, Y. and Wu, B.L. (2008), “Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome”, J. Genet. Genom., 36(4), pp. 257-265. Luận văn Thạc sĩ Tài liệu tham khảo 91 41. Slater, H.R., Bruno, D.L., Ren, H., Pertile, M., Schouten, J.P. and Choo, K.H. (2003), “Rapid, high throughput prenatal detection of aneuploidyusing a novel quantitative method (MLPA)”, J. Med. Genet., 40(12), pp. 907-912. 42. Spencer, K., Heath, V., El-Sheikhah, A., Ong, C.Y. and Nicolaides, K.H. (2005), “Ethnicity and the need for correction of biochemical and ultrasound markers of chromosomal anomalies in the first trimester: a study of Oriental, Asian and Afro-Caribbean populations”, Prenatal Diagnosis, 25(5), pp. 365-369. 43. Stern, R.F., Roberts, R.G., Mann, K., Yau, S.C., Berg, J. and Ogilvie, C.M. (2004), “Multiplex ligation-dependent probe amplification using a completely synthetic probe set”, BioTechniques, 37(3), pp. 399-405. 44. Stranc, L.C., Evans, J.A. and Hamerton, J.L. (1997), “Chorionic villus sampling and amniocentesis for prenatal diagnosis”, Lancet, 349(9053), pp. 711-714. 45. Summers, A.M., Langlois, S., Wyatt, P. and Wilson, R.D. (2007), “Prenatal Screening for Fetal Aneuploidy”, SOSC Clinical Practice Guideline, 187, pp. 146-158. 46. Toth, A., Tardy, E.P., Hajdu, K., Batorfi, J., Doszpod, J. and Egyed, J. (2001), “Fluorescence in situ hybridization of chorionic interphase cells for prenatal screening of Down syndrome”, Eur. J. Obstet. Gynecol. Reprod. Biol., 94(1), pp. 46-50. 47. Turleau, C. and de Grouchy, J. (1997), “Trisomy 18qter and trisomy mapping of chromosome 18”, Clinical Genetics, 12(6), pp. 361-371. 48. Vidal-Taboada, J.M., Lu, A., Pique, M., Pons, G., Gil, J. and Oliva, R. (2000), “Down Syndrome Critical Region Gene 2: Expression during mouse development and in human cell lines indicates a function related to cell proliferation”, Biochem. Biophys. Res. Commun., 272(1), pp.156-163. Luận văn Thạc sĩ Tài liệu tham khảo 92 49. Ward, B.E., Gersen, S.L., Carelli, M.P., McGuire, N.M., Dackowski, W.R., Weinstein, M., Sandlin, C., Warren, R. and Klinger, K.W. (1993), “Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization: clinical experience with 4500 specimens”, Am. J. Hum. Genet., 52(5), pp. 854-865. 50. White, S.J., Vink, G.R., Kriek, M., Wuyts, W., Schouten, J., Bakker, B., Breuning, M.H. and den Dunnen, J.T. (2004), “Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses”, Human Mutation, 24(1), pp. 86-92. Tài liệu ở trang web 51. Chen, H. (2009), “Trisomy 18” [trực tuyến]. Cập nhật 10/07/2009. Địa chỉ truy cập: http://emedicine.medscape.com/article/943463-overview#section~Introduction. 52. U.S. National Library of Medicine (2009), “Trisomy 18” [trực tuyến]. Cập nhật 01/2009. Địa chỉ truy cập: http://ghr.nlm.nih.gov/condition/trisomy-18. 53. Analis (2010), “Logiciel RiskCal” [trực tuyến]. Cập nhật 2010. Địa chỉ truy cập: http://www.analis.be/products/category.asp?prodCatg=7511. 54. Leshin, L. (2010), “Down syndrome: health issues” [trực tuyến]. Cập nhật 07/12/2010. Địa chỉ truy cập: http://www.ds-health.com/. 55. Leshin, L. (2007), “Prenatal screening for Down syndrome” [trực tuyến]. Cập nhật 01/2007. Địa chỉ truy cập: http://www.ds-health.com/prenatal.htm. 56. Genetic Alliance UK (2010), “Inheritance Patterns for monogenic genetic disorders” [trực tuyến]. Cập nhật 10/09/2010. Địa chỉ truy cập: http://www.geneticalliance.org.uk/education2.htm. 57. Heyn, S.N., “Down syndrome” [trực tuyến]. Địa chỉ truy cập: http://www.medicinenet.com/down_syndrome/article.htm. Luận văn Thạc sĩ Tài liệu tham khảo 93 58. Human Genome Project Information (2008), “Genetic Disease Information”. Cập nhật 21/07/2008. Địa chỉ truy cập: http://www.ornl.gov/sci/techresources/ Human_Genome/medicine/assist.shtml. 59. Patau Syndrome (2010). Địa chỉ truy cập: http://www.patausyndrome.org/. 60. American Pregnancy Association (2010), “Triple test: AFP plus (multiple marker screening)”. Địa chỉ truy cập: http://www.pregnancy.org/article/triple-test-afp-plus-multiple-marker-screening. 61. Typolog (2010), “Prisca 5”. Địa chỉ truy cập: http://www.typolog.de/Prisca.html. . 405(6784), pp.311-3 19. Luận văn Thạc sĩ Tài liệu tham khảo 89 24. Helali, N., Iafolla, A.K., Kahler, S.G. and Qumsiyeh M.B. ( 199 6), “A case. synthetic probe set”, BioTechniques, 37(3), pp. 399 -405. 44. Stranc, L.C., Evans, J.A. and Hamerton, J.L. ( 199 7), “Chorionic villus sampling and amniocentesis

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