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Volumn 13, Issue 1, 2006, Pages 110-119

Proof of principle and first cases using preimplantation genetic haplotyping - A paradigm shift for embryo diagnosis

Author keywords

Haplotype analysis; Multiple displacement amplification; PGD; PGH; Single gene disorders; Whole genome amplification

Indexed keywords

DNA; DYSTROPHIN;

EID: 33745935434     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)62024-X     Document Type: Article
Times cited : (127)

References (26)
  • 1
    • 0025161205 scopus 로고
    • Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene
    • Abbs S, Roberts RG, Mathew CG et al. 1990 Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 7, 602-606.
    • (1990) Genomics , vol.7 , pp. 602-606
    • Abbs, S.1    Roberts, R.G.2    Mathew, C.G.3
  • 3
    • 0029677707 scopus 로고    scopus 로고
    • Nuclear structural conditions and PCR amplification in human preimplantation diagnosis
    • Cui KH, Matthews CD 1996 Nuclear structural conditions and PCR amplification in human preimplantation diagnosis. Molecular Human Reproduction 2, 63-71.
    • (1996) Molecular Human Reproduction , vol.2 , pp. 63-71
    • Cui, K.H.1    Matthews, C.D.2
  • 5
    • 5044247324 scopus 로고    scopus 로고
    • Isothermal whole genome amplification from single and small numbers of cells: A new era for preimplantation genetic diagnosis of inherited disease
    • Handyside AH, Robinson M D, Simpson R J et al. 2004 Isothermal whole genome amplification from single and small numbers of cells: a new era for preimplantation genetic diagnosis of inherited disease. Molecular Human Reproduction 10, 767-772.
    • (2004) Molecular Human Reproduction , vol.10 , pp. 767-772
    • Handyside, A.H.1    Robinson, M.D.2    Simpson, R.J.3
  • 6
    • 0034054303 scopus 로고    scopus 로고
    • Universal primer quantitative fluorescent multiplex (UPQFM) PCR: A method to detect major and minor rearrangements of the low density lipoprotein receptor gene
    • Heath KE, Day INM, Humphries SE 2000 Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene. Journal of Medical Genetics 37, 272-280.
    • (2000) Journal of Medical Genetics , vol.37 , pp. 272-280
    • Heath, K.E.1    Day, I.N.M.2    Humphries, S.E.3
  • 7
    • 14944358730 scopus 로고    scopus 로고
    • Clinical application of multiple displacement amplification in preimplantation genetic diagnosis
    • Hellani A, Coskun S, Tbakhi A and Al-Hassan S 2005 Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. Reproductive BioMedicine Online 10, 376-380.
    • (2005) Reproductive BioMedicine Online , vol.10 , pp. 376-380
    • Hellani, A.1    Coskun, S.2    Tbakhi, A.3    Al-Hassan, S.4
  • 8
    • 11044230538 scopus 로고    scopus 로고
    • Multiple displacement amplification on single cell and possible PGD applications
    • Hellani A, Coskun S, Benkhalifa M et al. 2004 Multiple displacement amplification on single cell and possible PGD applications. Molecular Human Reproduction 10, 847-852.
    • (2004) Molecular Human Reproduction , vol.10 , pp. 847-852
    • Hellani, A.1    Coskun, S.2    Benkhalifa, M.3
  • 9
    • 0242475336 scopus 로고    scopus 로고
    • Whole genome amplification: Abundant supplies of DNA from precious samples or clinical specimens
    • Lasken R S, Egholm M 2003 Whole genome amplification: abundant supplies of DNA from precious samples or clinical specimens. Trends in Biotechnology 21, 531-535.
    • (2003) Trends in Biotechnology , vol.21 , pp. 531-535
    • Lasken, R.S.1    Egholm, M.2
  • 10
    • 0035181862 scopus 로고    scopus 로고
    • Controlling misdiagnosis errors in preimplantation genetic diagnosis: A comprehensive model encompassing extrinsic and intrinsic sources of error
    • Lewis C M, Pinel T, Whittaker J C, Handyside A H 2001 Controlling misdiagnosis errors in preimplantation genetic diagnosis: a comprehensive model encompassing extrinsic and intrinsic sources of error. Human Reproduction 16, 43-50.
    • (2001) Human Reproduction , vol.16 , pp. 43-50
    • Lewis, C.M.1    Pinel, T.2    Whittaker, J.C.3    Handyside, A.H.4
  • 12
    • 7744225371 scopus 로고    scopus 로고
    • Strategies for the rapid prenatal diagnosis of chromosome aneuploidy
    • Mann K, Donaghue C, Fox SP, et al. 2004 Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. European Journal of Human Genetics 12, 907-915.
    • (2004) European Journal of Human Genetics , vol.12 , pp. 907-915
    • Mann, K.1    Donaghue, C.2    Fox, S.P.3
  • 13
    • 0034075712 scopus 로고    scopus 로고
    • Outcome of preimplantation genetic diagnosis of translocations
    • Munné S, Sandalinas M, Escudero T, et al. 2000 Outcome of preimplantation genetic diagnosis of translocations. Fertility and Sterility 73, 1209-1218.
    • (2000) Fertility and Sterility , vol.73 , pp. 1209-1218
    • Munné, S.1    Sandalinas, M.2    Escudero, T.3
  • 15
    • 33745933313 scopus 로고    scopus 로고
    • Characterisation of new STR markers spanning the dystrophin gene
    • Pagan J Yau S, Abbs S 2004 Characterisation of new STR markers spanning the dystrophin gene. Journal of Medical Genetics 41, S74.
    • (2004) Journal of Medical Genetics , vol.41
    • Pagan, J.1    Yau, S.2    Abbs, S.3
  • 16
    • 0034531982 scopus 로고    scopus 로고
    • A pregnancy following PGD for X-linked dominant [correction of X-linked autosomal dominant] incontinentia pigmenti (Bloch-Sulzberger syndrome): Case report
    • Pettigrew R, Kuo HC, Scriven P et al. 2000 A pregnancy following PGD for X-linked dominant [correction of X-linked autosomal dominant] incontinentia pigmenti (Bloch-Sulzberger syndrome): case report. Human Reproduction 15, 2650-2652.
    • (2000) Human Reproduction , vol.15 , pp. 2650-2652
    • Pettigrew, R.1    Kuo, H.C.2    Scriven, P.3
  • 17
    • 0037225240 scopus 로고    scopus 로고
    • Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center
    • Pickering S, Polidoropoulos N, Caller J et al. 2003 Strategies and outcomes of the first 100 cycles of preimplantation genetic diagnosis at the Guy's and St. Thomas' Center. Fertility and Sterility 79, 81-90.
    • (2003) Fertility and Sterility , vol.79 , pp. 81-90
    • Pickering, S.1    Polidoropoulos, N.2    Caller, J.3
  • 20
    • 4043178128 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for carriers of reciprocal translocations
    • Scriven PN 2003 Preimplantation genetic diagnosis for carriers of reciprocal translocations. Journal of the Association of Genetic Technologists 29, 49-59.
    • (2003) Journal of the Association of Genetic Technologists , vol.29 , pp. 49-59
    • Scriven, P.N.1
  • 21
    • 0035157468 scopus 로고    scopus 로고
    • Robertsonian translocations - Reproductive risks and indications for preimplantation genetic diagnosis
    • Scriven PN, Flinter FA, Braude PR, Ogilvie CM 2001 Robertsonian translocations - reproductive risks and indications for preimplantation genetic diagnosis. Human Reproduction 16, 2267-2273.
    • (2001) Human Reproduction , vol.16 , pp. 2267-2273
    • Scriven, P.N.1    Flinter, F.A.2    Braude, P.R.3    Ogilvie, C.M.4
  • 23
    • 19944432386 scopus 로고    scopus 로고
    • ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'
    • Thornhill AR, deDie-Smulders CE, Geraedts JP et al. 2005 ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. Human Reproduction 20, 35-48.
    • (2005) Human Reproduction , vol.20 , pp. 35-48
    • Thornhill, A.R.1    deDie-Smulders, C.E.2    Geraedts, J.P.3
  • 26
    • 0032416351 scopus 로고    scopus 로고
    • Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification
    • Wells D, Sherlock X 1998 Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenatal Diagnosis 18, 1389-1401.
    • (1998) Prenatal Diagnosis , vol.18 , pp. 1389-1401
    • Wells, D.1    Sherlock, X.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.