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Volumn 9, Issue 9, 2003, Pages 559-567

Improving clinical preimplantation genetic diagnosis for cystic fibrosis by duplex PCR using two polymorphic markers or one polymorphic marker in combination with the detection of the ΔF508 mutation

Author keywords

Cystic fibrosis; Duplex PCR; Preimplantation genetic diagnosis

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 12444340446     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/gag065     Document Type: Article
Times cited : (33)

References (22)
  • 1
    • 0035406227 scopus 로고    scopus 로고
    • Recent advances in cystic fibrosis
    • Doull, U.M. (2001) Recent advances in cystic fibrosis. Arch. Dis. Child., 85, 62-66.
    • (2001) Arch. Dis. Child , vol.85 , pp. 62-66
    • Doull, U.M.1
  • 3
    • 0035102452 scopus 로고    scopus 로고
    • Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples
    • Eftedal, I., Schwartz, M., Bendtsen, H., Andersen, A. and Zieve, S. (2001) Single intragenic microsatellite preimplantation genetic diagnosis for cystic fibrosis provides positive allele identification of all CFTR genotypes for informative couples. Mol. Hum. Reprod, 7, 307-312.
    • (2001) Mol. Hum. Reprod. , vol.7 , pp. 307-312
    • Eftedal, I.1    Schwartz, M.2    Bendtsen, H.3    Andersen, A.4    Zieve, S.5
  • 5
    • 0026713048 scopus 로고
    • Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis
    • Handyside, A.H., Lesko, J.G., Tarin, J.J., Winston, R.M. and Hughes, M.R. (1992) Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis. N. Engl. J. Med., 327, 905-909.
    • (1992) N. Engl. J. Med. , vol.327 , pp. 905-909
    • Handyside, A.H.1    Lesko, J.G.2    Tarin, J.J.3    Winston, R.M.4    Hughes, M.R.5
  • 6
    • 0031862053 scopus 로고    scopus 로고
    • Intracytoplasmic sperm injection: Laboratory set-up and injection procedure
    • Joris, H., Nagy, P., Van de Velde, H., De Vos, A. and Van Steirteghem, A. (1998) Intracytoplasmic sperm injection: laboratory set-up and injection procedure. Hum. Reprod., 13 (Suppl. 1), 107-116.
    • (1998) Hum. Reprod. , vol.13 , Issue.SUPPL. 1 , pp. 107-116
    • Joris, H.1    Nagy, P.2    Van de Velde, H.3    De Vos, A.4    Van Steirteghem, A.5
  • 7
    • 0023759044 scopus 로고
    • Amplification and analysis of DNA sequences in single human sperm and diploid cells
    • Li, H., Gyllensten, U.B., Cui, X., Saiki, R.K., Erlich, H.A. and Amheim, N. (1988) Amplification and analysis of DNA sequences in single human sperm and diploid cells. Nature, 335, 414-417.
    • (1988) Nature , vol.335 , pp. 414-417
    • Li, H.1    Gyllensten, U.B.2    Cui, X.3    Saiki, R.K.4    Erlich, H.A.5    Arnheim, N.6
  • 9
    • 0030883079 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis: Current status and new developments
    • Lissens, W. and Sermon, K. (1997) Preimplantation genetic diagnosis: current status and new developments. Hum. Reprod, 12, 1756-1761.
    • (1997) Hum. Reprod. , vol.12 , pp. 1756-1761
    • Lissens, W.1    Sermon, K.2
  • 11
    • 0036078234 scopus 로고    scopus 로고
    • Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFrR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis
    • Moutou, C., Garde, N. and Viville, S. (2002) Multiplex PCR combining deltaF508 mutation and intragenic microsatellites of the CFrR gene for pre-implantation genetic diagnosis (PGD) of cystic fibrosis. Eur. J. Hum. Genet., 10, 231-238.
    • (2002) Eur. J. Hum. Genet. , vol.10 , pp. 231-238
    • Moutou, C.1    Garde, N.2    Viville, S.3
  • 13
    • 0028831019 scopus 로고
    • Amplification of exon 11 of the gene for the α-chain of β-N-acetylhexosaminidase in single blastomeres
    • Sermon, K., Lissens, W., Devroey, P., Van Steirteghem, A. and Liebaers, I. (1995) Amplification of exon 11 of the gene for the α-chain of β-N-acetylhexosaminidase in single blastomeres. Fertil. Steril., 63, 407-409.
    • (1995) Fertil. Steril. , vol.63 , pp. 407-409
    • Sermon, K.1    Lissens, W.2    Devroey, P.3    Van Steirteghem, A.4    Liebaers, I.5
  • 14
    • 0031872118 scopus 로고    scopus 로고
    • Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease)
    • Sermon, K., De Vos, A., Van de Velde, H., Seneca, S., Lissens, W., Joris, H., Vandervorst, M., Van Steirteghem, A. and Liebaers, I. (1998) Fluorescent PCR and automated fragment analysis for the clinical application of preimplantation genetic diagnosis of myotonic dystrophy (Steinert's disease). Mol. Hum. Reprod, 4, 791-796.
    • (1998) Mol. Hum. Reprod. , vol.4 , pp. 791-796
    • Sermon, K.1    De Vos, A.2    Van de Velde, H.3    Seneca, S.4    Lissens, W.5    Joris, H.6    Vandervorst, M.7    Van Steirteghem, A.8    Liebaers, I.9
  • 17
    • 0030732670 scopus 로고    scopus 로고
    • Effects of different hyaluronidase concentrations and mechanical procedures for cumulus cell removal on the outcome of intracytoplasmic sperm injection
    • Van de Velde, H., Nagy, Z.P., Joris, H., De Vos, A. and Van Steirteghem, A.C. (1997) Effects of different hyaluronidase concentrations and mechanical procedures for cumulus cell removal on the outcome of intracytoplasmic sperm injection. Hum. Reprod., 12, 2246-2250.
    • (1997) Hum. Reprod. , vol.12 , pp. 2246-2250
    • Van de Velde, H.1    Nagy, Z.P.2    Joris, H.3    De Vos, A.4    Van Steirteghem, A.C.5
  • 19
    • 0023833526 scopus 로고
    • Use of a simple method for the Epstein-Barr virus transformation of lymphocytes from members of large families of Reunion Island
    • Ventura, M., Gibaud, A., Le Pendu, J., Hillaire, D., Gerard, G., Vitreac, D. and Oriol, R. (1988) Use of a simple method for the Epstein-Barr virus transformation of lymphocytes from members of large families of Reunion Island. Hum. Hered., 38, 36-43.
    • (1988) Hum. Hered. , vol.38 , pp. 36-43
    • Ventura, M.1    Gibaud, A.2    Le Pendu, J.3    Hillaire, D.4    Gerard, G.5    Vitreac, D.6    Oriol, R.7
  • 21
    • 0026332706 scopus 로고
    • A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene
    • Zielenski, J., Markiewicz, D., Rininsland, F., Rommens, J. and Tsui, L. (1991) A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFrR) gene. Am. J. Hum. Genet., 49, 1256-1262.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 1256-1262
    • Zielenski, J.1    Markiewicz, D.2    Rininsland, F.3    Rommens, J.4    Tsui, L.5
  • 22
    • 0029616734 scopus 로고
    • Cystic fibrosis: Genotypic and phenotypic variations
    • Zielenski, J. and Tsui, L.C. (1995) Cystic fibrosis: genotypic and phenotypic variations. Annu. Rev. Genet., 29, 777-807.
    • (1995) Annu. Rev. Genet. , vol.29 , pp. 777-807
    • Zielenski, J.1    Tsui, L.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.