-
1
-
-
33745020732
-
Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, and X by quantitative fluorescence polymerase chain reaction
-
Ochshorn Y, Bar-Shira A, Jonish A and Yaron Y: Rapid prenatal diagnosis of aneuploidy for chromosomes 21, 18, 13, and X by quantitative fluorescence polymerase chain reaction. Fetal Diagn Ther 21: 326-331, 2006.
-
(2006)
Fetal Diagn Ther
, vol.21
, pp. 326-331
-
-
Ochshorn, Y.1
Bar-Shira, A.2
Jonish, A.3
Yaron, Y.4
-
2
-
-
1842428745
-
Introduction of the QF-PCR analysis for the purposes of prenatal diagnosis in Bulgaria - Estimation of applicability of 6 STR markers on chromosomes 21 and 18
-
Andonova S, Vazharova R, Dimitrova V, Mazneikova V, Toncheva D and Kremensky I: Introduction of the QF-PCR analysis for the purposes of prenatal diagnosis in Bulgaria - estimation of applicability of 6 STR markers on chromosomes 21 and 18. Prenat Diagn 24: 202-208, 2004.
-
(2004)
Prenat Diagn
, vol.24
, pp. 202-208
-
-
Andonova, S.1
Vazharova, R.2
Dimitrova, V.3
Mazneikova, V.4
Toncheva, D.5
Kremensky, I.6
-
3
-
-
84857868297
-
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: An international collaborative study
-
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, et al: DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med 14: 296-305, 2012.
-
(2012)
Genet Med
, vol.14
, pp. 296-305
-
-
Palomaki, G.E.1
Deciu, C.2
Kloza, E.M.3
Lambert-Messerlian, G.M.4
Haddow, J.E.5
Neveux, L.M.6
-
4
-
-
33646095780
-
Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004
-
Lin HY, Lin SP, Chen YJ, et al: Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet A 140: 945-951, 2006.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 945-951
-
-
Lin, H.Y.1
Lin, S.P.2
Chen, Y.J.3
-
5
-
-
8444236785
-
Genetic analysis of 18 X-linked short tandem repeat markers in Korean population
-
Shin SH, Yu JS, Park SW, et al: Genetic analysis of 18 X-linked short tandem repeat markers in Korean population. Forensic Sci Int 147: 35-41, 2005.
-
(2005)
Forensic Sci Int
, vol.147
, pp. 35-41
-
-
Shin, S.H.1
Yu, J.S.2
Park, S.W.3
-
6
-
-
0038769897
-
Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis
-
Kim UK, Chae JJ, Lee SH, et al: Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis. Mol Cells 13: 385-388, 2002.
-
(2002)
Mol Cells
, vol.13
, pp. 385-388
-
-
Kim, U.K.1
Chae, J.J.2
Lee, S.H.3
-
7
-
-
0036849384
-
X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies
-
Cirigliano V, Ejarque M, Fuster C and Adinolfi M: X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Mol Hum Reprod 8: 1042-1045, 2002.
-
(2002)
Mol Hum Reprod
, vol.8
, pp. 1042-1045
-
-
Cirigliano, V.1
Ejarque, M.2
Fuster, C.3
Adinolfi, M.4
-
8
-
-
0031045298
-
Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR)
-
Lee HH, Chang JG, Lin SP, Chao HT, Yang ML and Ng HT: Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR). Hum Genet 99: 364-367, 1997.
-
(1997)
Hum Genet
, vol.99
, pp. 364-367
-
-
Lee, H.H.1
Chang, J.G.2
Lin, S.P.3
Chao, H.T.4
Yang, M.L.5
Ng, H.T.6
-
9
-
-
0031443638
-
Characterization and cell cycle regulation of the related human telomeric proteins Pin2 and TRF1 suggest a role in mitosis
-
Shen M, Haggblom C, Vogt M, Hunter T and Lu KP: Characterization and cell cycle regulation of the related human telomeric proteins Pin2 and TRF1 suggest a role in mitosis. Proc Natl Acad Sci USA 94: 13618-13623, 1997.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 13618-13623
-
-
Shen, M.1
Haggblom, C.2
Vogt, M.3
Hunter, T.4
Lu, K.P.5
-
10
-
-
77953520232
-
Development of quantitative-fluorescence polymerase chain reaction for the rapid prenatal diagnosis of common chromosomal aneuploidies in 1,000 samples in Singapore
-
Baig S, Ho SS, Ng BL, Chiu L, Koay ES, Leow GH, et al: Development of quantitative-fluorescence polymerase chain reaction for the rapid prenatal diagnosis of common chromosomal aneuploidies in 1,000 samples in Singapore. Singapore Med J 51: 343-348, 2010.
-
(2010)
Singapore Med J
, vol.51
, pp. 343-348
-
-
Baig, S.1
Ho, S.S.2
Ng, B.L.3
Chiu, L.4
Koay, E.S.5
Leow, G.H.6
-
11
-
-
0036001137
-
Allele distributions for D21S1435 and D21S2055 loci in two Chinese populations
-
Liang W, Zhang L, Chen G, Xin J, Liao M and Wu MY: Allele distributions for D21S1435 and D21S2055 loci in two Chinese populations. J Forensic Sci 47: 667-668, 2002.
-
(2002)
J Forensic Sci
, vol.47
, pp. 667-668
-
-
Liang, W.1
Zhang, L.2
Chen, G.3
Xin, J.4
Liao, M.5
Wu, M.Y.6
-
12
-
-
0033841101
-
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, Hackelöer BJ, Kerber S, Kochhan L and Held KR: Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod 6: 855-860, 2000.
-
(2000)
Mol Hum Reprod
, vol.6
, pp. 855-860
-
-
Schmidt, W.1
Jenderny, J.2
Hecher, K.3
Hackelöer, B.J.4
Kerber, S.5
Kochhan, L.6
Held, K.R.7
-
13
-
-
33645465676
-
A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33-34
-
Vats KR, Ishwad C, Singla I, Vats A, Ferrell R, Ellis D, et al: A locus for renal malformations including vesico-ureteric reflux on chromosome 13q33-34. J Am Soc Nephrol 17: 1158-1167, 2006.
-
(2006)
J Am Soc Nephrol
, vol.17
, pp. 1158-1167
-
-
Vats, K.R.1
Ishwad, C.2
Singla, I.3
Vats, A.4
Ferrell, R.5
Ellis, D.6
-
14
-
-
33645912629
-
Allele distribution of two X-chromosomal STR loci in a population from Sicily (Southern Italy)
-
Asmundo A, Perri F and Sapienza D: Allele distribution of two X-chromosomal STR loci in a population from Sicily (Southern Italy). International Congress Series 1288: 346-348, 2006.
-
(2006)
International Congress Series
, vol.1288
, pp. 346-348
-
-
Asmundo, A.1
Perri, F.2
Sapienza, D.3
-
15
-
-
8744251236
-
A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification
-
Shadrach B, Commane M, Hren C and Warshawsky I: A rare mutation in the primer binding region of the amelogenin gene can interfere with gender identification. J Mol Diagn 6: 401-405, 2004.
-
(2004)
J Mol Diagn
, vol.6
, pp. 401-405
-
-
Shadrach, B.1
Commane, M.2
Hren, C.3
Warshawsky, I.4
-
16
-
-
0033812929
-
A rare mutation in the amelogenin gene and its potential investigative ramifications
-
Roffey PE, Eckhoff CI and Kuhl JL: A rare mutation in the amelogenin gene and its potential investigative ramifications. J Forensic Sci 45: 1016-1019, 2000.
-
(2000)
J Forensic Sci
, vol.45
, pp. 1016-1019
-
-
Roffey, P.E.1
Eckhoff, C.I.2
Kuhl, J.L.3
-
17
-
-
0026698636
-
Extension of base mispairs by Taq DNA polymerase: Implications for single nucleotide discrimination in PCR
-
Huang MM, Arnheim N and Goodman MF: Extension of base mispairs by Taq DNA polymerase: implications for single nucleotide discrimination in PCR. Nucleic Acids Res 20: 4567-4573, 1992.
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 4567-4573
-
-
Huang, M.M.1
Arnheim, N.2
Goodman, M.F.3
-
18
-
-
4444303169
-
Systematic analysis of stutter percentages and allele peak height and peak area ratios at heterozygous STR loci for forensic casework and database samples
-
Leclair B, Frégeau CJ, Bowen KL and Fourney RM: Systematic analysis of stutter percentages and allele peak height and peak area ratios at heterozygous STR loci for forensic casework and database samples. J Forensic Sci 49: 968-980, 2004.
-
(2004)
J Forensic Sci
, vol.49
, pp. 968-980
-
-
Leclair, B.1
Frégeau, C.J.2
Bowen, K.L.3
Fourney, R.M.4
|