메뉴 건너뛰기




Volumn 23, Issue 8, 2003, Pages 669-677

Single-cell sequencing and mini-sequencing for preimplantation genetic diagnosis

Author keywords

Mini sequencing; Preimplantation genetic diagnosis (PGD); Sequencing; Single cell PCR; SNapShot

Indexed keywords

DNA FRAGMENT;

EID: 0042021843     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.658     Document Type: Article
Times cited : (25)

References (20)
  • 2
    • 0033940736 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa
    • Cserhalmi-Friedman PB, Tang Y, Adler A, Krey L, Grifo JA, Christiano AM. 2000. Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz junctional epidermolysis bullosa. Exp Dermatol 9: 290-297.
    • (2000) Exp. Dermatol. , vol.9 , pp. 290-297
    • Cserhalmi-Friedman, P.B.1    Tang, Y.2    Adler, A.3    Krey, L.4    Grifo, J.A.5    Christiano, A.M.6
  • 3
    • 0031196688 scopus 로고    scopus 로고
    • Single cell detection of beta-thalassaemia mutations using silver stained SSCP analysis: An application for preimplantation diagnosis
    • El-Hashemite N, Wells D, Delhanty JDA. 1997. Single cell detection of beta-thalassaemia mutations using silver stained SSCP analysis: an application for preimplantation diagnosis. Mol Hum Reprod 3: 693-698.
    • (1997) Mol. Hum. Reprod. , vol.3 , pp. 693-698
    • El-Hashemite, N.1    Wells, D.2    Delhanty, J.D.A.3
  • 5
    • 0036924622 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for beta-thalassaemia using sequencing of single cell PCR products to detect mutations and polymorphic loci
    • Hussey ND, Davis T, Hall JR, et al. 2002. Preimplantation genetic diagnosis for beta-thalassaemia using sequencing of single cell PCR products to detect mutations and polymorphic loci. Mol Hum Reprod 8: 1136-1143.
    • (2002) Mol. Hum. Reprod. , vol.8 , pp. 1136-1143
    • Hussey, N.D.1    Davis, T.2    Hall, J.R.3
  • 6
    • 0033378762 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: Clinical experience including the initiation of six singleton pregnancies
    • Kanavakis E, Vrettou C, Palmer G, Tzetis M, Mastrominas M, Traeger-Synodinos J. 1999. Preimplantation genetic diagnosis in 10 couples at risk for transmitting beta-thalassaemia major: clinical experience including the initiation of six singleton pregnancies. Prenat Diagn 19: 1217-1222.
    • (1999) Prenat. Diagn. , vol.19 , pp. 1217-1222
    • Kanavakis, E.1    Vrettou, C.2    Palmer, G.3    Tzetis, M.4    Mastrominas, M.5    Traeger-Synodinos, J.6
  • 8
    • 0038148733 scopus 로고    scopus 로고
    • Detailed investigation of factors influencing amplification efficiency and allele dropout in single cell PCR: Implications for preimplantation genetic diagnosis
    • Piyamongkol W, Garcia Bermudez M, Harper JC, Wells D. 2003. Detailed investigation of factors influencing amplification efficiency and allele dropout in single cell PCR: implications for preimplantation genetic diagnosis. Mol Hum Reprod 9(7): 411-414.
    • (2003) Mol. Hum. Reprod. , vol.9 , Issue.7 , pp. 411-414
    • Piyamongkol, W.1    Garcia Bermudez, M.2    Harper, J.C.3    Wells, D.4
  • 9
    • 0034805203 scopus 로고    scopus 로고
    • Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemia using multiplex fluorescent PCR
    • Piyamongkol W, Harper JC, Delhanty JDA, Wells D. 2001a. Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemia using multiplex fluorescent PCR. Prenat Diagn 21: 753-759.
    • (2001) Prenat. Diagn. , vol.21 , pp. 753-759
    • Piyamongkol, W.1    Harper, J.C.2    Delhanty, J.D.A.3    Wells, D.4
  • 10
    • 0035059956 scopus 로고    scopus 로고
    • A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR
    • Piyamongkol W, Harper JC, Sherlock JK, et al. 2001b. A successful strategy for preimplantation genetic diagnosis of myotonic dystrophy using multiplex fluorescent PCR. Prenat Diagn 21: 223-232.
    • (2001) Prenat. Diagn. , vol.21 , pp. 223-232
    • Piyamongkol, W.1    Harper, J.C.2    Sherlock, J.K.3
  • 11
    • 0030089840 scopus 로고    scopus 로고
    • Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: Single blastomere analysis using short PEP protocols
    • Sermon K, Lissens W, Joris H, Van Steirteghem A, Liebaers I. 1996. Adaptation of the primer extension preamplification (PEP) reaction for preimplantation diagnosis: single blastomere analysis using short PEP protocols. Mol Hum Reprod 2: 209-212.
    • (1996) Mol. Hum. Reprod. , vol.2 , pp. 209-212
    • Sermon, K.1    Lissens, W.2    Joris, H.3    Van Steirteghem, A.4    Liebaers, I.5
  • 12
    • 0031823425 scopus 로고    scopus 로고
    • Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells
    • Sherlock J, Cirigliano V, Petrou M, Tutschek B, Adinolfi M. 1998. Assessment of diagnostic quantitative fluorescent multiplex polymerase chain reaction assays performed on single cells. Ann Hum Genet 62: 9-23.
    • (1998) Ann. Hum. Genet. , vol.62 , pp. 9-23
    • Sherlock, J.1    Cirigliano, V.2    Petrou, M.3    Tutschek, B.4    Adinolfi, M.5
  • 13
    • 0026736251 scopus 로고
    • Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer
    • Telenius H, Carter NP, Bebb CE, Nordenskjold M, Ponder BA, Tunnacliffe A. 1992. Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics 13: 718-725.
    • (1992) Genomics , vol.13 , pp. 718-725
    • Telenius, H.1    Carter, N.P.2    Bebb, C.E.3    Nordenskjold, M.4    Ponder, B.A.5    Tunnacliffe, A.6
  • 14
    • 0034507517 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: A case report
    • Thornhill AR, Pickering SJ, Whittock NV, et al. 2000. Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin-1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report. Prenat Diagn 20: 1055-1062.
    • (2000) Prenat. Diagn. , vol.20 , pp. 1055-1062
    • Thornhill, A.R.1    Pickering, S.J.2    Whittock, N.V.3
  • 15
    • 85006324393 scopus 로고    scopus 로고
    • Preimplantation diagnosis for p53 tumour suppressor gene mutations
    • Verlinsky Y, Rechitsky S, Verlinsky O, et al. 2001. Preimplantation diagnosis for p53 tumour suppressor gene mutations. Reprod Biomed Online 2: 102-105.
    • (2001) Reprod. Biomed. Online , vol.2 , pp. 102-105
    • Verlinsky, Y.1    Rechitsky, S.2    Verlinsky, O.3
  • 16
    • 0032836396 scopus 로고    scopus 로고
    • Detection of aneuploidy in single cells using comparative genomic hybridization
    • Voullaire L, Wilton L, Slater H, Williamson R. 1999. Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagn 19: 846-851.
    • (1999) Prenat. Diagn. , vol.19 , pp. 846-851
    • Voullaire, L.1    Wilton, L.2    Slater, H.3    Williamson, R.4
  • 17
    • 0033378064 scopus 로고    scopus 로고
    • A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: Application to preimplantation genetic diagnosis
    • Vrettou C, Palmer G, Kanavakis E, et al. 1999. A widely applicable strategy for single cell genotyping of beta-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis. Prenat Diagn 19: 1209-1216.
    • (1999) Prenat. Diagn. , vol.19 , pp. 1209-1216
    • Vrettou, C.1    Palmer, G.2    Kanavakis, E.3
  • 18
    • 0034478002 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis: Applications for molecular medicine
    • Wells D, Delhanty JDA. 2001. Preimplantation genetic diagnosis: applications for molecular medicine. Trends Mol Med 7: 23-30.
    • (2001) Trends Mol. Med. , vol.7 , pp. 23-30
    • Wells, D.1    Delhanty, J.D.A.2
  • 19
    • 0033557235 scopus 로고    scopus 로고
    • Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation
    • Wells D, Sherlock JK, Handyside AH, Delhanty JD. 1999. Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res 27: 1214-1218.
    • (1999) Nucleic Acids Res. , vol.27 , pp. 1214-1218
    • Wells, D.1    Sherlock, J.K.2    Handyside, A.H.3    Delhanty, J.D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.