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Volumn 5, Issue 12, 1999, Pages 1166-1175

Assessment of multiplex fluorescent PCR for screening single cells for trisomy 21 and single gene defects

Author keywords

Multiplex fluorescent PCR; Single cell; Spinal muscular atrophy; Trisomy 21

Indexed keywords

DNA;

EID: 13044316569     PISSN: 13609947     EISSN: None     Source Type: Journal    
DOI: 10.1093/molehr/5.12.1166     Document Type: Article
Times cited : (32)

References (73)
  • 1
    • 0022921797 scopus 로고
    • A non-radioactive automated method for DNA sequence determination
    • Ansorge, W., Sproat, B.S., Stegemann, J. et al. (1986) A non-radioactive automated method for DNA sequence determination. J. Biochem. Biophys. Methol. 13, 315-323.
    • (1986) J. Biochem. Biophys. Methol. , vol.13 , pp. 315-323
    • Ansorge, W.1    Sproat, B.S.2    Stegemann, J.3
  • 2
    • 6844239539 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of inherited cancer: Familial adenomatous polyposis coli
    • Ao, A., Wells, D., Handyside, A.H. et al. (1998) Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. J. Assist. Reprod. Genet., 15, 140-144.
    • (1998) J. Assist. Reprod. Genet. , vol.15 , pp. 140-144
    • Ao, A.1    Wells, D.2    Handyside, A.H.3
  • 3
    • 13344284633 scopus 로고    scopus 로고
    • Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508)
    • Ao, A., Ray, P., Harper, J. et al. (1996) Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508). Prenat. Diagn., 16, 137-142.
    • (1996) Prenat. Diagn. , vol.16 , pp. 137-142
    • Ao, A.1    Ray, P.2    Harper, J.3
  • 4
    • 0026536404 scopus 로고
    • The meiolic stage of nondisjunction in trisomy 21: Determination by using DNA polymorphisms
    • Aronarakis, S.E., Petersen, M.B., McInnis, M.G. et al. (1992) The meiolic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am. J. Hum. Genet., 50, 544-550.
    • (1992) Am. J. Hum. Genet. , vol.50 , pp. 544-550
    • Aronarakis, S.E.1    Petersen, M.B.2    McInnis, M.G.3
  • 5
    • 0028021177 scopus 로고
    • Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and delta F508 mutations
    • Avner, R., Laufer, N., Safran, A. et al. (1994) Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and delta F508 mutations. Hum. Reprod., 9, 1676-1680.
    • (1994) Hum. Reprod. , vol.9 , pp. 1676-1680
    • Avner, R.1    Laufer, N.2    Safran, A.3
  • 6
    • 0030818315 scopus 로고    scopus 로고
    • Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
    • Campbell, L., Potter, A., Ignatius, J. et al. (1997) Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype. Am. J. Hum. Genet., 61, 40-50.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 40-50
    • Campbell, L.1    Potter, A.2    Ignatius, J.3
  • 7
    • 0024245082 scopus 로고
    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
    • Chamberlain, J.S., Gibbs, R.A., Ranier, J.E. et al. (1988) Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res., 16, 11141-11156.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 11141-11156
    • Chamberlain, J.S.1    Gibbs, R.A.2    Ranier, J.E.3
  • 8
    • 0024399081 scopus 로고
    • Single-sperm typing: Determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers
    • Cui, X.F., Li, H.H., Goradia, T.M. et al. (1989) Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers. Proc. Natl. Acad. Sci. USA, 86, 9389-9393.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 9389-9393
    • Cui, X.F.1    Li, H.H.2    Goradia, T.M.3
  • 9
    • 0031009264 scopus 로고    scopus 로고
    • Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimpluntation embryos from fertile patients
    • Delhanty, J.D., Harper, J.C., Ao, A. et al. (1997) Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimpluntation embryos from fertile patients. Hum. Genet., 99, 755-760.
    • (1997) Hum. Genet. , vol.99 , pp. 755-760
    • Delhanty, J.D.1    Harper, J.C.2    Ao, A.3
  • 10
    • 0031663165 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of spinal muscular atrophy
    • Dreesen, J.C., Bras, M., de Die-Smulders, C. et al. (1998) Preimplantation genetic diagnosis of spinal muscular atrophy. Mol. Hum. Reprod., 4, 881-885.
    • (1998) Mol. Hum. Reprod. , vol.4 , pp. 881-885
    • Dreesen, J.C.1    Bras, M.2    De Die-Smulders, C.3
  • 12
    • 0025086138 scopus 로고
    • Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage
    • Eiben, B., Bartels, I., Bahr-Porsch, S. et al. (1990) Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am. J. Hum. Genet., 47, 656-663.
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 656-663
    • Eiben, B.1    Bartels, I.2    Bahr-Porsch, S.3
  • 13
    • 0032902433 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis using fluorescent polymerase chain reaction: Results and future developments
    • Findlay, I., Matthews, P., Quirke, P. (1999) Preimplantation genetic diagnosis using fluorescent polymerase chain reaction: results and future developments. J.Assist. Reprod. Genet., 16, 199-206.
    • (1999) J.Assist. Reprod. Genet. , vol.16 , pp. 199-206
    • Findlay, I.1    Matthews, P.2    Quirke, P.3
  • 14
    • 0031947004 scopus 로고    scopus 로고
    • Same day diagnosis of Down's syndrome and sex in single cells using multiplex fluorescent PCR
    • Findlay, I., Matthews, P., Toth, T. et al. (1998a) Same day diagnosis of Down's syndrome and sex in single cells using multiplex fluorescent PCR. Mol. Pathol., 51, 164-167.
    • (1998) Mol. Pathol. , vol.51 , pp. 164-167
    • Findlay, I.1    Matthews, P.2    Toth, T.3
  • 15
    • 0031925460 scopus 로고    scopus 로고
    • Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: Applications for prenatal diagnosis and preimplantation genetic diagnosis
    • Findlay, I., Toth, T., Matthews, P. et al. (1998b) Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagnosis. J. Assist. Reprod. Genet., 15, 266-275.
    • (1998) J. Assist. Reprod. Genet. , vol.15 , pp. 266-275
    • Findlay, I.1    Toth, T.2    Matthews, P.3
  • 16
    • 0030812801 scopus 로고    scopus 로고
    • DNA fingerprinting from single cells
    • Findlay, I., Taylor, A., Quirke, P. et al. (1997) DNA fingerprinting from single cells. [Letter.] Nature, 389, 555-556.
    • (1997) Nature , vol.389 , pp. 555-556
    • Findlay, I.1    Taylor, A.2    Quirke, P.3
  • 17
    • 0030443791 scopus 로고    scopus 로고
    • Rapid genetic diagnosis at 7-9 weeks gestation: Diagnosis of sex, single gene defects and DNA fingerprint from coelomic samples
    • Findlay, I., Atkinson, G., Chambers, M. et al. (1996) Rapid genetic diagnosis at 7-9 weeks gestation: diagnosis of sex, single gene defects and DNA fingerprint from coelomic samples. Hum. Reprod., 11, 2548-2553.
    • (1996) Hum. Reprod. , vol.11 , pp. 2548-2553
    • Findlay, I.1    Atkinson, G.2    Chambers, M.3
  • 18
    • 0029038302 scopus 로고
    • Allelic drop-out and preferential amplification in single cells and human blastomeres: Implications for preimplantation diagnosis of sex and cystic fibrosis
    • Findlay, I., Ray, P., Quirke, P. et al. (1995a) Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum. Reprod., 10, 1609-1618.
    • (1995) Hum. Reprod. , vol.10 , pp. 1609-1618
    • Findlay, I.1    Ray, P.2    Quirke, P.3
  • 19
    • 0029061813 scopus 로고
    • Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells
    • Findlay, I., Urquhart, A., Quirke, P. et al. (1995b) Simultaneous DNA 'fingerprinting', diagnosis of sex and single-gene defect status from single cells. Hum. Reprod., 10, 1005-1013.
    • (1995) Hum. Reprod. , vol.10 , pp. 1005-1013
    • Findlay, I.1    Urquhart, A.2    Quirke, P.3
  • 20
    • 0031468605 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos
    • Gianaroli, L., Magli, M.C., Ferraretti, A.P. et al. (1997) Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos. Fertil. Steril., 68, 1128-1131.
    • (1997) Fertil. Steril. , vol.68 , pp. 1128-1131
    • Gianaroli, L.1    Magli, M.C.2    Ferraretti, A.P.3
  • 21
    • 0030039944 scopus 로고    scopus 로고
    • Polymerase chain reaction amplification specificity: Incidence of allele dropout using different DNA preparation methods for heterozygous single cells
    • Gitlin, S.A., Lanzendorf, S.E. and Gibbons, W.E. (1996) Polymerase chain reaction amplification specificity: incidence of allele dropout using different DNA preparation methods for heterozygous single cells. J. Assist. Reprod. Genet., 13, 107-111.
    • (1996) J. Assist. Reprod. Genet. , vol.13 , pp. 107-111
    • Gitlin, S.A.1    Lanzendorf, S.E.2    Gibbons, W.E.3
  • 22
    • 0028061446 scopus 로고
    • Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization
    • Griffin, D.K., Handyside, A.H., Harper, J.C. et al. (1994) Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridization. J. Assist. Reprod. Genet., 11, 132-143.
    • (1994) J. Assist. Reprod. Genet. , vol.11 , pp. 132-143
    • Griffin, D.K.1    Handyside, A.H.2    Harper, J.C.3
  • 23
    • 0025938038 scopus 로고
    • Identification and characterization of the familial adenomatous polyposis coli gene
    • Groden, J., Thliveris, A., Samowitz, W. et al. (1991) Identification and characterization of the familial adenomatous polyposis coli gene. Cell, 66, 589-600.
    • (1991) Cell , vol.66 , pp. 589-600
    • Groden, J.1    Thliveris, A.2    Samowitz, W.3
  • 24
    • 0026713048 scopus 로고
    • Birth of a normal girl after in vitro fertilization and preimplantation diagnostic testing for cystic fibrosis
    • Handyside, A.H., John, L.G., Tarín, J.J. et al. (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    John, L.G.2    Tarín, J.J.3
  • 25
    • 0025307919 scopus 로고
    • Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification
    • Handyside, A.H., Kontogianni, E.H., Hardy, K. et al. (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 344, 768-770.
    • (1990) Nature , vol.344 , pp. 768-770
    • Handyside, A.H.1    Kontogianni, E.H.2    Hardy, K.3
  • 26
    • 0028816762 scopus 로고
    • Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos
    • Harper, J.C., Coonen, E., Handyside, A.H. et al. (1995) Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos. Prenat. Diagn., 15, 41-49.
    • (1995) Prenat. Diagn. , vol.15 , pp. 41-49
    • Harper, J.C.1    Coonen, E.2    Handyside, A.H.3
  • 27
    • 0000049938 scopus 로고
    • Chromosome abnormalities in human reproductive wastage
    • Hassold, T. (1986) Chromosome abnormalities in human reproductive wastage. Trends Genet., 2, 105-110.
    • (1986) Trends Genet. , vol.2 , pp. 105-110
    • Hassold, T.1
  • 28
    • 0021906685 scopus 로고
    • Maternal age specific rates of numerical chromosome abnormalities with special reference to trisomy
    • Hassold, T. and Chiu, D. (1985) Maternal age specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum. Genet., 70, 11-17.
    • (1985) Hum. Genet. , vol.70 , pp. 11-17
    • Hassold, T.1    Chiu, D.2
  • 29
    • 0029818072 scopus 로고    scopus 로고
    • Human aneuploidy: Incidence, origin, and etiology
    • Hassold, T., Abruzzo, M., Adkins, K. et al. (1996) Human aneuploidy: incidence, origin, and etiology. Env. Mol. Mutagen., 28, 167-175.
    • (1996) Env. Mol. Mutagen. , vol.28 , pp. 167-175
    • Hassold, T.1    Abruzzo, M.2    Adkins, K.3
  • 30
    • 0026768976 scopus 로고
    • High-sensitive fluorescent DNA sequencing and its application for detection and mass-screening of point mutations
    • Hatton, M., Yoshioka, K., Sakaki, Y. (1992) High-sensitive fluorescent DNA sequencing and its application for detection and mass-screening of point mutations. Electrophoresis, 13, 560-565.
    • (1992) Electrophoresis , vol.13 , pp. 560-565
    • Hatton, M.1    Yoshioka, K.2    Sakaki, Y.3
  • 31
    • 0027527236 scopus 로고
    • Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy
    • Holding, C., Bentley, D., Roberts, R. et al. (1993) Development and validation of laboratory procedures for preimplantation diagnosis of Duchenne muscular dystrophy. J. Med. Genet., 30, 903-909.
    • (1993) J. Med. Genet. , vol.30 , pp. 903-909
    • Holding, C.1    Bentley, D.2    Roberts, R.3
  • 32
    • 0002682681 scopus 로고
    • Chromosome abnormalities
    • Brock, D.J.H., Rodeck, C.H., Ferguson-Smith, M.A. (eds), Churchill Livingstone, Edinburgh, UK
    • Hook, E.B. (1992) Chromosome abnormalities. In Brock, D.J.H., Rodeck, C.H., Ferguson-Smith, M.A. (eds), Prenatal Diagnosis and Screening. Churchill Livingstone, Edinburgh, UK.
    • (1992) Prenatal Diagnosis and Screening
    • Hook, E.B.1
  • 33
    • 0020696212 scopus 로고
    • Chromosomal abnormality rates at amniocentesis and in live-born infants
    • Hook, E.B., Cross, P.K. and Schreinemachers. D.M. (1983) Chromosomal abnormality rates at amniocentesis and in live-born infants. J. Am. Med. Assoc., 249, 2034-2038.
    • (1983) J. Am. Med. Assoc. , vol.249 , pp. 2034-2038
    • Hook, E.B.1    Cross, P.K.2    Schreinemachers, D.M.3
  • 34
    • 0027092492 scopus 로고
    • Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21
    • Kalaitsidaki, M., Cox, T., Chakravarti, A. et al. (1992) Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21. Genomics, 14, 1071-1075.
    • (1992) Genomics , vol.14 , pp. 1071-1075
    • Kalaitsidaki, M.1    Cox, T.2    Chakravarti, A.3
  • 35
    • 0020702232 scopus 로고
    • Congenital malformations (second of two parts)
    • Kalter, H. and Warkany, J. (1983) Congenital malformations (second of two parts). M Engl. J. Med. 308, 491-497.
    • (1983) M Engl. J. Med. , vol.308 , pp. 491-497
    • Kalter, H.1    Warkany, J.2
  • 36
    • 0030022185 scopus 로고    scopus 로고
    • Identifying the sex of human preimplantation embryos in X-linked disease: Amplification efficiency of a Y-specific alphoid repeat from single blastomeres with two lysis protocols
    • Kontogianni, E.H., Griffin, D.K. and Handyside, A.H. (1996) Identifying the sex of human preimplantation embryos in X-linked disease: amplification efficiency of a Y-specific alphoid repeat from single blastomeres with two lysis protocols. J. Assist. Reprod. Genet., 13, 125-132.
    • (1996) J. Assist. Reprod. Genet. , vol.13 , pp. 125-132
    • Kontogianni, E.H.1    Griffin, D.K.2    Handyside, A.H.3
  • 38
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre, S., Burglen, L., Reboullet, S. et al. (1995) Identification and characterization of a spinal muscular atrophy-determining gene. [Comments.] Cell, 80, 155-165.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Burglen, L.2    Reboullet, S.3
  • 39
    • 0344881190 scopus 로고
    • Population screening for the cystic fibrosis gene using fluorescent PCR
    • Lewis, F.A., Cross, D., Sehmi, I. et al. (1993) Population screening for the cystic fibrosis gene using fluorescent PCR. J. Pathol., 170, 34.
    • (1993) J. Pathol. , vol.170 , pp. 34
    • Lewis, F.A.1    Cross, D.2    Sehmi, I.3
  • 40
    • 0027534753 scopus 로고
    • Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
    • Mansfield, E.S. (1993) Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum. Mol. Genet., 2, 43-50.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 43-50
    • Mansfield, E.S.1
  • 41
    • 0027138360 scopus 로고
    • Duchenne-Becker muscular-dystrophy carrier detection using quantitative PCR and fluorescence-based strategies
    • Mansfield, E.S., Robertson, J.M., Lebo, R.V. et al. (1993) Duchenne-Becker muscular-dystrophy carrier detection using quantitative PCR and fluorescence-based strategies. Am. J. Med. Genet., 48, 200-208.
    • (1993) Am. J. Med. Genet. , vol.48 , pp. 200-208
    • Mansfield, E.S.1    Robertson, J.M.2    Lebo, R.V.3
  • 42
    • 0028200804 scopus 로고
    • De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
    • Melki, J., Lefebvre, S., Burglen, L. et al. (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science, 264, 1474-1477.
    • (1994) Science , vol.264 , pp. 1474-1477
    • Melki, J.1    Lefebvre, S.2    Burglen, L.3
  • 43
    • 8944263310 scopus 로고    scopus 로고
    • Validation of multiplex polymorphic STR amplification sets developed for personal identification applications
    • Micka, K.A., Sprecher, C.J., Lins, A.M. et al. (1996) Validation of multiplex polymorphic STR amplification sets developed for personal identification applications. J. Foren. Sci., 41, 582-590.
    • (1996) J. Foren. Sci. , vol.41 , pp. 582-590
    • Micka, K.A.1    Sprecher, C.J.2    Lins, A.M.3
  • 44
    • 0028858439 scopus 로고
    • Epidemiological study of Down's syndrome in Denmark, including family studies of chromosomes and DNA markers
    • Mikkelsen, M., Hallberg, A., Poulsen, H. et al. (1995) Epidemiological study of Down's syndrome in Denmark, including family studies of chromosomes and DNA markers. Dev. Brain Dysfunct., 8, 4-12.
    • (1995) Dev. Brain Dysfunct. , vol.8 , pp. 4-12
    • Mikkelsen, M.1    Hallberg, A.2    Poulsen, H.3
  • 45
    • 0027730222 scopus 로고
    • Diagnosis of major chromosome aneuploidies in human preimplantation embryos
    • Munné, S., Lee, A., Rosenwaks, Z. et al. (1993) Diagnosis of major chromosome aneuploidies in human preimplantation embryos. Hum. Reprod., 8, 2185-2191.
    • (1993) Hum. Reprod. , vol.8 , pp. 2185-2191
    • Munné, S.1    Lee, A.2    Rosenwaks, Z.3
  • 46
    • 0028006116 scopus 로고
    • Sex determination of human embryos using the polymerase chain reaction and confirmation by fluorescence in situ hybridization
    • Munné, S., Tang, Y.X., Grifo, J. et al. (1994) Sex determination of human embryos using the polymerase chain reaction and confirmation by fluorescence in situ hybridization. Fertil. Steril., 61, 111-117.
    • (1994) Fertil. Steril. , vol.61 , pp. 111-117
    • Munné, S.1    Tang, Y.X.2    Grifo, J.3
  • 47
    • 0025764491 scopus 로고
    • Using PCR in preimplantation genetic disease diagnosis
    • Navidi, W., Arnheim, N. (1991) Using PCR in preimplantation genetic disease diagnosis. Hum. Reprod., 6, 836-849.
    • (1991) Hum. Reprod. , vol.6 , pp. 836-849
    • Navidi, W.1    Arnheim, N.2
  • 48
    • 0018906764 scopus 로고
    • Classification of spinal muscular atrophies
    • Pearn, J. (1980) Classification of spinal muscular atrophies. Lancet. i, 919-922.
    • (1980) Lancet , vol.1 , pp. 919-922
    • Pearn, J.1
  • 49
    • 0015901060 scopus 로고
    • The genetic identity of acute infantile spinal muscular atrophy
    • Pearn, J.H., Carter, C.O. and Wilson, J. (1973) The genetic identity of acute infantile spinal muscular atrophy. Brain, 96, 463-470.
    • (1973) Brain , vol.96 , pp. 463-470
    • Pearn, J.H.1    Carter, C.O.2    Wilson, J.3
  • 50
    • 0030089526 scopus 로고    scopus 로고
    • Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis
    • Ray, P.F. and Handyside, A.H. (1996) Increasing the denaturation temperature during the first cycles of amplification reduces allele dropout from single cells for preimplantation genetic diagnosis. Mol. Hum. Reprod., 2, 213-218.
    • (1996) Mol. Hum. Reprod. , vol.2 , pp. 213-218
    • Ray, P.F.1    Handyside, A.H.2
  • 51
    • 0009658899 scopus 로고
    • Single cell analysis for diagnosis of cystic fibrosis and Lesch-Nyhan syndrome in human embryos before implantation
    • Proceedings of the 1994 Miami Bio/Technology, Short Reports, Advances in Gene Technology
    • Ray, P.F., Winston, R.M. and Handyside, A.H. (1994) Single cell analysis for diagnosis of cystic fibrosis and Lesch-Nyhan syndrome in human embryos before implantation. Proceedings of the 1994 Miami Bio/Technology, Short Reports, Advances in Gene Technology: Mol. Biol. Hum. Genet. Dis., 5, 46.
    • (1994) Mol. Biol. Hum. Genet. Dis. , vol.5 , pp. 46
    • Ray, P.F.1    Winston, R.M.2    Handyside, A.H.3
  • 52
    • 0030022056 scopus 로고    scopus 로고
    • Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of Cystic Fibrosis
    • Ray, P.F., Winston, R.M.L. and Handyside, A.H. (1996) Reduced allele dropout in single-cell analysis for preimplantation genetic diagnosis of Cystic Fibrosis. J. Assist. Reprod. Genet., 13, 104-106.
    • (1996) J. Assist. Reprod. Genet. , vol.13 , pp. 104-106
    • Ray, P.F.1    Winston, R.M.L.2    Handyside, A.H.3
  • 54
    • 0030020899 scopus 로고    scopus 로고
    • Allele dropout in sequential PCR and Fish analysis of single cells (cell recycling)
    • Rechitsky, S., Freidine, M., Verlinsky, Y. et al. (1996) Allele dropout in sequential PCR and Fish analysis of single cells (cell recycling). J. Assist. Reprod. Genet., 13, 115-124.
    • (1996) J. Assist. Reprod. Genet. , vol.13 , pp. 115-124
    • Rechitsky, S.1    Freidine, M.2    Verlinsky, Y.3
  • 56
    • 0026629939 scopus 로고
    • Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy
    • Schwartz, L.S., Tarleton, J., Popovich, B. et al. (1992) Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy. Am. J. Hum. Genet., 51, 721-729.
    • (1992) Am. J. Hum. Genet. , vol.51 , pp. 721-729
    • Schwartz, L.S.1    Tarleton, J.2    Popovich, B.3
  • 57
    • 0029028913 scopus 로고
    • Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres
    • Sermon, K., Lissens, W., Nagy, Z.P. et al. (1995) Simultaneous amplification of the two most frequent mutations of infantile Tay-Sachs disease in single blastomeres. Hum. Reprod., 10, 2214-2217.
    • (1995) Hum. Reprod. , vol.10 , pp. 2214-2217
    • Sermon, K.1    Lissens, W.2    Nagy, Z.P.3
  • 58
    • 0030776767 scopus 로고    scopus 로고
    • Clinical application of preimplantation diagnosis for myotonic dystrophy
    • Sermon, K., Lissens, W., Joris, H. et al. (1997) Clinical application of preimplantation diagnosis for myotonic dystrophy. Prenat. Diagn., 17, 925-932.
    • (1997) Prenat. Diagn. , vol.17 , pp. 925-932
    • Sermon, K.1    Lissens, W.2    Joris, H.3
  • 59
    • 0032413395 scopus 로고    scopus 로고
    • Preimplantation diagnosis for Huntington's disease (HD): Clinical application and analysis of the HD expansion in affected embryos
    • Sermon, K., Goossens, V., Seneca, S. et al. (1998a) Preimplantation diagnosis for Huntington's disease (HD): clinical application and analysis of the HD expansion in affected embryos. Prenat. Diagn., 18, 1427-1436.
    • (1998) Prenat. Diagn. , vol.18 , pp. 1427-1436
    • Sermon, K.1    Goossens, V.2    Seneca, S.3
  • 60
    • 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. et al. (1998b) 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
  • 61
    • 0032919952 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer
    • Sermon, K., Lissens, W., Messiaen, L. et al. (1999) Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer. Fertil. Steril., 71, 163-166.
    • (1999) Fertil. Steril. , vol.71 , pp. 163-166
    • Sermon, K.1    Lissens, W.2    Messiaen, L.3
  • 62
    • 0026849362 scopus 로고
    • Tetranucleotide repeat polymorphism at the D21S11 locus
    • Sharma, V. and Litt, M. (1992) Tetranucleotide repeat polymorphism at the D21S11 locus. Hum. Mol. Genet., 1, 67.
    • (1992) Hum. Mol. Genet. , vol.1 , pp. 67
    • Sharma, V.1    Litt, M.2
  • 63
    • 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. et al. (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
  • 64
    • 0031950284 scopus 로고    scopus 로고
    • Simultaneous detection of chromosomes X, Y, 13, 18, and 21 by fluorescence in situ hybridization in blastomeres obtained from preimplantation embryos
    • Smith, S.E., Toledo, A.A., Massey, J.B. and Kort, H.I. (1998) Simultaneous detection of chromosomes X, Y, 13, 18, and 21 by fluorescence in situ hybridization in blastomeres obtained from preimplantation embryos. J. Assist. Reprod. Genet., 15, 314-319.
    • (1998) J. Assist. Reprod. Genet. , vol.15 , pp. 314-319
    • Smith, S.E.1    Toledo, A.A.2    Massey, J.B.3    Kort, H.I.4
  • 65
    • 0025292815 scopus 로고
    • Preconception genetic diagnosis of cystic fibrosis
    • Strom, C.M., Verlinsky, Y., Milayeva, S. et al. (1990) Preconception genetic diagnosis of cystic fibrosis. [Letter.] Lancet, 336, 306-307.
    • (1990) Lancet , vol.336 , pp. 306-307
    • Strom, C.M.1    Verlinsky, Y.2    Milayeva, S.3
  • 66
    • 0027964833 scopus 로고
    • Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis
    • Strom, CM., Rechitsky, S., Wolf, G. et al. (1994) Reliability of polymerase chain reaction (PCR) analysis of single cells for preimplantation genetic diagnosis. J. Assist. Reprod. Genet., 11, 55-62.
    • (1994) J. Assist. Reprod. Genet. , vol.11 , pp. 55-62
    • Strom, C.M.1    Rechitsky, S.2    Wolf, G.3
  • 67
    • 0026642082 scopus 로고
    • Cumulative conception and livebirth rates after in-vitro fertilization
    • Tan, S., Royston, P., Campbell, S. et al. (1992) Cumulative conception and livebirth rates after in-vitro fertilization. Lancet, 339, 1390-1394.
    • (1992) Lancet , vol.339 , pp. 1390-1394
    • Tan, S.1    Royston, P.2    Campbell, S.3
  • 68
    • 0031440262 scopus 로고    scopus 로고
    • Accurate sizing of (CAG)n repeats causing Huntington disease by fluorescent PCR
    • Toth, T., Findlay, I., Nagy, B. et al. (1997) Accurate sizing of (CAG)n repeats causing Huntington disease by fluorescent PCR. Clin. Chem., 43, 2422-2423.
    • (1997) Clin. Chem. , vol.43 , pp. 2422-2423
    • Toth, T.1    Findlay, I.2    Nagy, B.3
  • 69
    • 0031980021 scopus 로고    scopus 로고
    • Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction
    • Toth, T., Findlay, I., Papp, C. et al. (1998) Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction. J. Med. Genet., 35, 126-129.
    • (1998) J. Med. Genet. , vol.35 , pp. 126-129
    • Toth, T.1    Findlay, I.2    Papp, C.3
  • 71
    • 0027752043 scopus 로고
    • Co-amplification of the cystic fibrosis delta F508 mutation with the HLA DQA1 sequence in single cell PCR: Implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis
    • Wu, R., Cuppens, H., Buyse, I. et al. (1993) Co-amplification of the cystic fibrosis delta F508 mutation with the HLA DQA1 sequence in single cell PCR: implications for improved assessment of polar bodies and blastomeres in preimplantation diagnosis. Prenat. Diagn., 13, 1111-1122.
    • (1993) Prenat. Diagn. , vol.13 , pp. 1111-1122
    • Wu, R.1    Cuppens, H.2    Buyse, I.3
  • 72
    • 0030058258 scopus 로고    scopus 로고
    • Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of the chromosome error: A population-based study
    • Yoon, P.W., Freeman, S.B., Sherman, S.L. et al. (1996) Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of the chromosome error: a population-based study. Am. J. Hum. Genet., 58, 628-633.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 628-633
    • Yoon, P.W.1    Freeman, S.B.2    Sherman, S.L.3
  • 73
    • 0026755807 scopus 로고
    • Whole genome amplification from a single cell: Implications for genetic analysis
    • Zhang, L., Cui, X., Schmitt, K. et al. (1992) Whole genome amplification from a single cell: implications for genetic analysis. Proc. Natl. Acad. Sci. USA, 89, 5847-5851.
    • (1992) Proc. Natl. Acad. Sci. USA , vol.89 , pp. 5847-5851
    • Zhang, L.1    Cui, X.2    Schmitt, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.