-
1
-
-
67149115401
-
Clinical practice prenatal screening for aneuploidy
-
Driscoll DA, Gross S (2009) Clinical practice. Prenatal screening for aneuploidy. N Engl J Med 360(24):2556-2562.
-
(2009)
N Engl J Med
, vol.360
, Issue.24
, pp. 2556-2562
-
-
Driscoll, D.A.1
Gross, S.2
-
2
-
-
84868238424
-
Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester
-
Zhang YP, et al. (2011) [Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester]. Zhonghua Fu Chan Ke Za Zhi 46(9):644-648.
-
(2011)
Zhonghua Fu Chan Ke Za Zhi
, vol.46
, Issue.9
, pp. 644-648
-
-
Zhang, Y.P.1
-
3
-
-
0037961105
-
Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: Case reports and review of the literature
-
Rives N, Simon N, Milazzo JP, Barthlmy C, Mac B (2003) Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: Case reports and review of the literature. Int J Androl 26(4):242-249.
-
(2003)
Int J Androl
, vol.26
, Issue.4
, pp. 242-249
-
-
Rives, N.1
Simon, N.2
Milazzo, J.P.3
Barth Lmy, C.4
Mac, B.5
-
4
-
-
48749101251
-
Effects of sex chromosome aneuploidy on male sexual behavior
-
Park JH, et al. (2008) Effects of sex chromosome aneuploidy on male sexual behavior. Genes Brain Behav 7(6):609-617.
-
(2008)
Genes Brain Behav
, vol.7
, Issue.6
, pp. 609-617
-
-
Park, J.H.1
-
5
-
-
77951946765
-
A review of trisomy X (47,XXX)
-
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L (2010) A review of trisomy X (47,XXX). Orphanet J Rare Dis 5(1):8.
-
(2010)
Orphanet J Rare Dis
, vol.5
, Issue.1
, pp. 8
-
-
Tartaglia, N.R.1
Howell, S.2
Sutherland, A.3
Wilson, R.4
Wilson, L.5
-
6
-
-
4544347706
-
Turners syndrome
-
Sybert VP, McCauley E (2004) Turners syndrome. N Engl J Med 351(12):1227-1238.
-
(2004)
N Engl J Med
, vol.351
, Issue.12
, pp. 1227-1238
-
-
Sybert, V.P.1
McCauley, E.2
-
7
-
-
79953873712
-
Turners syndrome and pregnancy: Has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review
-
Bouchlariotou S, et al. (2011) Turners syndrome and pregnancy: Has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med 24(5):668-672.
-
(2011)
J Matern Fetal Neonatal Med
, vol.24
, Issue.5
, pp. 668-672
-
-
Bouchlariotou, S.1
-
8
-
-
75349108961
-
Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: A systematic review
-
Leggett V, Jacobs P, Nation K, Scerif G, Bishop DV (2010) Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: A systematic review. Dev Med Child Neurol 52(2):119-129.
-
(2010)
Dev Med Child Neurol
, vol.52
, Issue.2
, pp. 119-129
-
-
Leggett, V.1
Jacobs, P.2
Nation, K.3
Scerif, G.4
Bishop, D.V.5
-
9
-
-
84355166682
-
Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: The Mayo Clinic experience
-
Hofherr SE, Wiktor AE, Kipp BR, Dawson DB, Van Dyke DL (2011) Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: The Mayo Clinic experience. J Assist Reprod Genet 28(11):1091-1098.
-
(2011)
J Assist Reprod Genet
, vol.28
, Issue.11
, pp. 1091-1098
-
-
Hofherr, S.E.1
Wiktor, A.E.2
Kipp, B.R.3
Dawson, D.B.4
Van Dyke, D.L.5
-
10
-
-
41649092864
-
Cytogenetic analysis after evaluation of 750 fetal deaths: Proposal for diagnostic workup
-
Korteweg FJ, et al. (2008) Cytogenetic analysis after evaluation of 750 fetal deaths: Proposal for diagnostic workup. Obstet Gynecol 111(4):865-874.
-
(2008)
Obstet Gynecol
, vol.111
, Issue.4
, pp. 865-874
-
-
Korteweg, F.J.1
-
11
-
-
34347377653
-
The economic burden of Downs syndrome in China
-
Bin W, Yingyao C, Qi S (2006) The economic burden of Downs syndrome in China. Chin Health Econ 25(3):24-26.
-
(2006)
Chin Health Econ
, vol.25
, Issue.3
, pp. 24-26
-
-
Bin, W.1
Yingyao, C.2
Qi, S.3
-
12
-
-
79961011778
-
Co-fish cod-fish redfish sky-fish
-
Williams ES, Cornforth MN, Goodwin EH, Bailey SM (2011) CO-FISH, COD-FISH, ReDFISH, SKY-FISH. Methods Mol Biol 735(1):113-124.
-
(2011)
Methods Mol Biol
, vol.735
, Issue.1
, pp. 113-124
-
-
Williams, E.S.1
Cornforth, M.N.2
Goodwin, E.H.3
Bailey, S.M.4
-
13
-
-
81155160840
-
Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype
-
Leung TY, et al. (2011) Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype. Ultrasound Obstet Gynecol 38(3):314-319.
-
(2011)
Ultrasound Obstet Gynecol
, vol.38
, Issue.3
, pp. 314-319
-
-
Leung, T.Y.1
-
14
-
-
34748865750
-
Guidelines for molecular karyotyping in constitutional genetic diagnosis
-
Vermeesch JR, et al. (2007) Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 15(11):1105-1114.
-
(2007)
Eur J Hum Genet
, vol.15
, Issue.11
, pp. 1105-1114
-
-
Vermeesch, J.R.1
-
15
-
-
38449105506
-
American college of obstetricians and gynecologists
-
ACOG Practice Bulletin No. 88, December 2007 Invasive prenatal testing for aneuploidy
-
American College of Obstetricians and Gynecologists (2007) ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 110(6):1459-1467.
-
(2007)
Obstet Gynecol
, vol.110
, Issue.6
, pp. 1459-1467
-
-
-
16
-
-
0038123017
-
A classification of pregnancy losses after invasive prenatal diagnostic procedures: An approach to allow comparison of units with a different case mix
-
Nanal R, Kyle P, Soothill PW (2003) A classification of pregnancy losses after invasive prenatal diagnostic procedures: An approach to allow comparison of units with a different case mix. Prenat Diagn 23(6):488-492.
-
(2003)
Prenat Diagn
, vol.23
, Issue.6
, pp. 488-492
-
-
Nanal, R.1
Kyle, P.2
Soothill, P.W.3
-
17
-
-
76449093190
-
Update on procedure-related risks for prenatal diagnosis techniques
-
Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27(1):1-7.
-
(2010)
Fetal Diagn Ther
, vol.27
, Issue.1
, pp. 1-7
-
-
Tabor, A.1
Alfirevic, Z.2
-
18
-
-
84864408781
-
Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
-
Norton ME, et al. (2012) Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 207(2):e1-e8.
-
(2012)
Am J Obstet Gynecol
, vol.207
, Issue.2
-
-
Norton, M.E.1
-
19
-
-
84868029481
-
Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
-
Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G (2012) Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 207(5):e1-e6.
-
(2012)
Am J Obstet Gynecol
, vol.207
, Issue.5
-
-
Nicolaides, K.H.1
Syngelaki, A.2
Ashoor, G.3
Birdir, C.4
Touzet, G.5
-
20
-
-
80755172331
-
DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
-
Palomaki GE, et al. (2011) DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med 13(11):913-920.
-
(2011)
Genet Med
, vol.13
, Issue.11
, pp. 913-920
-
-
Palomaki, G.E.1
-
21
-
-
84860213983
-
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
-
Bianchi DW, et al. (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 119(5):890-901.
-
(2012)
Obstet Gynecol
, vol.119
, Issue.5
, pp. 890-901
-
-
Bianchi, D.W.1
-
22
-
-
84896691791
-
DNA sequencing versus standard prenatal aneuploidy screening
-
Bianchi DW, et al. (2014) DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 370(9):799-808.
-
(2014)
N Engl J Med
, vol.370
, Issue.9
, pp. 799-808
-
-
Bianchi, D.W.1
-
23
-
-
58149490683
-
Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
-
Chiu RW, et al. (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 105(51):20458-20463.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, Issue.51
, pp. 20458-20463
-
-
Chiu, R.W.1
-
24
-
-
55849124028
-
Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
-
Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR (2008) Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 105(42):16266-16271.
-
(2008)
Proc Natl Acad Sci USA
, vol.105
, Issue.42
, pp. 16266-16271
-
-
Fan, H.C.1
Blumenfeld, Y.J.2
Chitkara, U.3
Hudgins, L.4
Quake, S.R.5
-
25
-
-
84870688045
-
Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors
-
Dan S, et al. (2012) Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn 32(13):1225-1232.
-
(2012)
Prenat Diagn
, vol.32
, Issue.13
, pp. 1225-1232
-
-
Dan, S.1
-
26
-
-
77957272020
-
Challenges of sequencing human genomes
-
Koboldt DC, Ding L, Mardis ER, Wilson RK (2010) Challenges of sequencing human genomes. Brief Bioinform 11(5):484-498.
-
(2010)
Brief Bioinform
, vol.11
, Issue.5
, pp. 484-498
-
-
Koboldt, D.C.1
Ding, L.2
Mardis, E.R.3
Wilson, R.K.4
-
27
-
-
77955255742
-
Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics
-
Fan HC, Quake SR (2010) Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One 5(5):e10439.
-
(2010)
PLoS One
, vol.5
, Issue.5
-
-
Fan, H.C.1
Quake, S.R.2
-
28
-
-
0034872431
-
Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma
-
Chiu RW, et al. (2001) Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma. Clin Chem 47(9):1607-1613.
-
(2001)
Clin Chem
, vol.47
, Issue.9
, pp. 1607-1613
-
-
Chiu, R.W.1
-
29
-
-
79960597679
-
An integrated semiconductor device enabling non-optical genome sequencing
-
Rothberg JM, et al. (2011) An integrated semiconductor device enabling non-optical genome sequencing. Nature 475(7356):348-352.
-
(2011)
Nature
, vol.475
, Issue.7356
, pp. 348-352
-
-
Rothberg, J.M.1
-
30
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754-1760.
-
(2009)
Bioinformatics
, vol.25
, Issue.14
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
31
-
-
70349556543
-
Personalized copy number and segmental duplication maps using next-generation sequencing
-
Alkan C, et al. (2009) Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 41(10):1061-1067.
-
(2009)
Nat Genet
, vol.41
, Issue.10
, pp. 1061-1067
-
-
Alkan, C.1
-
32
-
-
84870175220
-
Noninvasive Fetal Trisomy (NIFTY) test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
-
Jiang F, et al. (2012) Noninvasive Fetal Trisomy (NIFTY) test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics 5(1):57.
-
(2012)
BMC Med Genomics
, vol.5
, Issue.1
, pp. 57
-
-
Jiang, F.1
-
33
-
-
79959937504
-
Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
-
Chen EZ, et al. (2011) Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 6(7):e21791.
-
(2011)
PLoS One
, vol.6
, Issue.7
-
-
Chen, E.Z.1
|