메뉴 건너뛰기




Volumn 23, Issue 3, 2003, Pages 201-210

Development and targeted application of a rapid QF-PCR test for sex chromosome imbalance

Author keywords

Aneuploidy; Prenatal diagnosis; QF PCR; Sex chromosome

Indexed keywords

AMELOGENIN;

EID: 0037343233     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.569     Document Type: Article
Times cited : (62)

References (25)
  • 1
    • 0002096055 scopus 로고
    • An essay towards solving a problem in the doctrine of chances
    • Bayes T. 1958. An essay towards solving a problem in the doctrine of chances. Biometrika 45: 296-315.
    • (1958) Biometrika , vol.45 , pp. 296-315
    • Bayes, T.1
  • 2
    • 0036107146 scopus 로고    scopus 로고
    • Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR
    • Bili C, Divane A, Apessos A, et al. 2002. Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR. Prenat Diagn 22(5): 360-365.
    • (2002) Prenat Diagn , vol.22 , Issue.5 , pp. 360-365
    • Bili, C.1    Divane, A.2    Apessos, A.3
  • 4
    • 0032721939 scopus 로고    scopus 로고
    • Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR
    • Cirigliano V, Sherlock J, Conway G, Quilter C, Rodeck C, Adinolfi M. 1999. Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat Diagn 19(12): 1099-1103.
    • (1999) Prenat Diagn , vol.19 , Issue.12 , pp. 1099-1103
    • Cirigliano, V.1    Sherlock, J.2    Conway, G.3    Quilter, C.4    Rodeck, C.5    Adinolfi, M.6
  • 5
    • 0036849384 scopus 로고    scopus 로고
    • X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies
    • Cirigliano V, Ejarque M, Fuster C, Adinolfi M. 2002. X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Hum Mol Reprod 8(11): 1042-1045.
    • (2002) Hum Mol Reprod , vol.8 , Issue.11 , pp. 1042-1045
    • Cirigliano, V.1    Ejarque, M.2    Fuster, C.3    Adinolfi, M.4
  • 6
    • 17144464108 scopus 로고    scopus 로고
    • The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
    • Clement-Jones M, Schiller S, Rao E, et al. 2000. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 9(5): 695-702.
    • (2000) Hum Mol Genet , vol.9 , Issue.5 , pp. 695-702
    • Clement-Jones, M.1    Schiller, S.2    Rao, E.3
  • 7
    • 0025939939 scopus 로고
    • DNA typing and genetic mapping with trimeric and tetrameric tandem repeats
    • Edwards A, Civitello A, Hammond HA, Caskey CT. 1991. DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet 49(4): 746-756.
    • (1991) Am J Hum Genet , vol.49 , Issue.4 , pp. 746-756
    • Edwards, A.1    Civitello, A.2    Hammond, H.A.3    Caskey, C.T.4
  • 8
    • 0026551039 scopus 로고
    • Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups
    • Edwards A, Hammond HA, Jin L, Caskey CT, Chakraborty R. 1992. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 12(2): 241-253.
    • (1992) Genomics , vol.12 , Issue.2 , pp. 241-253
    • Edwards, A.1    Hammond, H.A.2    Jin, L.3    Caskey, C.T.4    Chakraborty, R.5
  • 9
    • 0018069955 scopus 로고
    • Spontaneous deaths of fetuses with chromosomal abnormalities diagnosed prenatally
    • Hook EB. 1978. Spontaneous deaths of fetuses with chromosomal abnormalities diagnosed prenatally. N Engl J Med 299(19): 1036-1038.
    • (1978) N Engl J Med , vol.299 , Issue.19 , pp. 1036-1038
    • Hook, E.B.1
  • 10
    • 0001606102 scopus 로고    scopus 로고
    • Prenatal diagnosis of chromosomal abnormalities through amniocentisis
    • Milunsky A (ed.). The John Hopkins University Press: Baltimore, MD and London
    • Hsu LYF. 1998. Prenatal diagnosis of chromosomal abnormalities through amniocentisis. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Milunsky A (ed.). The John Hopkins University Press: Baltimore, MD and London; 179-248.
    • (1998) Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment , pp. 179-248
    • Hsu, L.Y.F.1
  • 11
    • 0036188731 scopus 로고    scopus 로고
    • Prenatal diagnosis of 45,X and 45,X mosaicism: The need for thorough cytogenetic and clinical evaluations
    • Huang B, Thangavelu M, Bhatt S, C JS, Wang S. 2002. Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenat Diagn 22(2): 105-110.
    • (2002) Prenat Diagn , vol.22 , Issue.2 , pp. 105-110
    • Huang, B.1    Thangavelu, M.2    Bhatt, S.3    Wang, S.4
  • 12
    • 0026636703 scopus 로고
    • Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH)
    • Klinger K, Landes G, Shook D, et al. 1992. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet 51(1): 55-65.
    • (1992) Am J Hum Genet , vol.51 , Issue.1 , pp. 55-65
    • Klinger, K.1    Landes, G.2    Shook, D.3
  • 13
    • 0035081439 scopus 로고    scopus 로고
    • A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy
    • Levett LJ, Liddle S, Meredith R. 2001. A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol 17(2): 115-118.
    • (2001) Ultrasound Obstet Gynecol , vol.17 , Issue.2 , pp. 115-118
    • Levett, L.J.1    Liddle, S.2    Meredith, R.3
  • 14
    • 0035968604 scopus 로고    scopus 로고
    • Development and implementation of a new rapid aneuploidy diagnostic service within the UK national health service and implications for the future of prenatal diagnosis
    • Mann K, Fox SP, Abbs SJ, et al. 2001. Development and implementation of a new rapid aneuploidy diagnostic service within the UK national health service and implications for the future of prenatal diagnosis. Lancet 358(9287): 1057-1061.
    • (2001) Lancet , vol.358 , Issue.9287 , pp. 1057-1061
    • Mann, K.1    Fox, S.P.2    Abbs, S.J.3
  • 15
    • 0027534753 scopus 로고
    • Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
    • Mansfield ES. 1993. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 2(1): 43-50.
    • (1993) Hum Mol Genet , vol.2 , Issue.1 , pp. 43-50
    • Mansfield, E.S.1
  • 17
    • 0028353764 scopus 로고
    • Rapid molecular method for prenatal detection of Down's syndrome
    • Pertl B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M. 1994. Rapid molecular method for prenatal detection of Down's syndrome. Lancet 343(8907): 1197-1198.
    • (1994) Lancet , vol.343 , Issue.8907 , pp. 1197-1198
    • Pertl, B.1    Yau, S.C.2    Sherlock, J.3    Davies, A.F.4    Mathew, C.G.5    Adinolfi, M.6
  • 18
    • 0030665915 scopus 로고    scopus 로고
    • Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex
    • Pertl B, Kopp S, Kroisel PM, et al. 1997. Quantitative fluorescence polymerase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex. Am J Obstet Gynecol 177(4): 899-906.
    • (1997) Am J Obstet Gynecol , vol.177 , Issue.4 , pp. 899-906
    • Pertl, B.1    Kopp, S.2    Kroisel, P.M.3
  • 19
    • 0030940217 scopus 로고    scopus 로고
    • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    • Rao E, Weiss B, Fukami M, et al. 1997. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16(1): 54-63.
    • (1997) Nat Genet , vol.16 , Issue.1 , pp. 54-63
    • Rao, E.1    Weiss, B.2    Fukami, M.3
  • 20
    • 0033841101 scopus 로고    scopus 로고
    • Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk
    • Schmidt W, Jenderny J, Hecher K, et al. 2000. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod 6(9): 855-860.
    • (2000) Mol Hum Reprod , vol.6 , Issue.9 , pp. 855-860
    • Schmidt, W.1    Jenderny, J.2    Hecher, K.3
  • 21
    • 0020621218 scopus 로고
    • Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy
    • Simoni G, Brambati B, Danesino C, et al. 1983. Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 63(4): 349-357.
    • (1983) Hum Genet , vol.63 , Issue.4 , pp. 349-357
    • Simoni, G.1    Brambati, B.2    Danesino, C.3
  • 22
    • 0000108127 scopus 로고
    • A rapid and quantitative DNA sex test: Fluorescence-based PCR analysis of X-Y homologous gene amelogenin
    • Sullivan KM, Mannucci A, Kimpton CP, Gill P. 1993. A rapid and quantitative DNA sex test: fluorescence-based PCR analysis of X-Y homologous gene amelogenin. Biotechniques 15(4): 636-638, 640,641.
    • (1993) Biotechniques , vol.15 , Issue.4 , pp. 636-638
    • Sullivan, K.M.1    Mannucci, A.2    Kimpton, C.P.3    Gill, P.4
  • 23
    • 0033983677 scopus 로고    scopus 로고
    • Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation
    • Thilaganathan B, Sairam S, Ballard T, Peterson C, Meredith R. 2000. Effectiveness of prenatal chromosomal analysis using multicolor fluorescent in situ hybridisation. Bjog 107(2): 262-266.
    • (2000) Bjog , vol.107 , Issue.2 , pp. 262-266
    • Thilaganathan, B.1    Sairam, S.2    Ballard, T.3    Peterson, C.4    Meredith, R.5
  • 24
    • 0027166351 scopus 로고
    • Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134
    • Wehnert M, Reiner O, Caskey CT. 1993. Four STR polymorphisms map to a 500 kb region between DXS15 and DXS134. Hum Mol Genet 2(9): 1503.
    • (1993) Hum Mol Genet , vol.2 , Issue.9 , pp. 1503
    • Wehnert, M.1    Reiner, O.2    Caskey, C.T.3
  • 25
    • 0002200973 scopus 로고    scopus 로고
    • Critical regions for Turner syndrome phenotypes on the X chromosome
    • Saenger P, Pasquino AM (eds). Elsevier: The Netherlands
    • Zinn AR, Ross JL. 2000. Critical regions for Turner syndrome phenotypes on the X chromosome. In Optimizing health care for Turner patients in the 21st century, Saenger P, Pasquino AM (eds). Elsevier: The Netherlands; 9-18.
    • (2000) Optimizing Health Care for Turner Patients in the 21st Century , pp. 9-18
    • Zinn, A.R.1    Ross, J.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.