-
1
-
-
0025881002
-
Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes
-
1683225, 2063863
-
Kuo WL, Tenjin H, Segraves R, Pinkel D, Golbus MS, Gray J. Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. Am J Hum Genet 1991, 49:112-119. 1683225, 2063863.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 112-119
-
-
Kuo, W.L.1
Tenjin, H.2
Segraves, R.3
Pinkel, D.4
Golbus, M.S.5
Gray, J.6
-
2
-
-
0035016839
-
Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature
-
10.1002/pd.57, 11288120
-
Tepperberg J, Pettenati MJ, Rao PN, Lese CM, Rita D, Wyandt H, Gersen S, White B, Schoonmaker MM. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn 2001, 21:293-301. 10.1002/pd.57, 11288120.
-
(2001)
Prenat Diagn
, vol.21
, pp. 293-301
-
-
Tepperberg, J.1
Pettenati, M.J.2
Rao, P.N.3
Lese, C.M.4
Rita, D.5
Wyandt, H.6
Gersen, S.7
White, B.8
Schoonmaker, M.M.9
-
3
-
-
0025785447
-
Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR
-
10.1093/nar/19.15.4203, 328563, 1678507
-
Mutter GL, Pomponio RJ. Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR. Nucleic Acids Res 1991, 19:4203-4207. 10.1093/nar/19.15.4203, 328563, 1678507.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 4203-4207
-
-
Mutter, G.L.1
Pomponio, R.J.2
-
4
-
-
19944407550
-
Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples
-
10.1093/molehr/gah108, 15361554
-
Marongiu A, Ejarque M, Ordoñez E, Plaja A, Massobrio M, Todros T, Fuster C, Campogrande M, Egozcue J, Adinolfi M, Cirigliano V, Voglino G, Canadas MP. Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 2004, 10:839-846. 10.1093/molehr/gah108, 15361554.
-
(2004)
Mol Hum Reprod
, vol.10
, pp. 839-846
-
-
Marongiu, A.1
Ejarque, M.2
Ordoñez, E.3
Plaja, A.4
Massobrio, M.5
Todros, T.6
Fuster, C.7
Campogrande, M.8
Egozcue, J.9
Adinolfi, M.10
Cirigliano, V.11
Voglino, G.12
Canadas, M.P.13
-
5
-
-
13544268702
-
Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)
-
10.1038/sj.ejhg.5201307, 15483643
-
Gerdes T, Kirchhoff M, Lind AM, Larsen GV, Schwartz M, Lundsteen C. Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA). Eur J Hum Genet 2005, 13:171-175. 10.1038/sj.ejhg.5201307, 15483643.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 171-175
-
-
Gerdes, T.1
Kirchhoff, M.2
Lind, A.M.3
Larsen, G.V.4
Schwartz, M.5
Lundsteen, C.6
-
6
-
-
57649228924
-
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
-
10.1038/ejhg.2008.161, 18781187
-
Van Opstal D, Boter M, de Jong D, van den Berg C, Brüggenwirth HT, Wildschut HI, de Klein A, Galjaard RJ. Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur J Hum Genet 2009, 17:112-121. 10.1038/ejhg.2008.161, 18781187.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 112-121
-
-
Van Opstal, D.1
Boter, M.2
de Jong, D.3
van den Berg, C.4
Brüggenwirth, H.T.5
Wildschut, H.I.6
de Klein, A.7
Galjaard, R.J.8
-
7
-
-
33751172713
-
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization
-
10.1097/01.gim.0000245576.47154.63, 17108764
-
Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaud AL, Eng CM, et al. Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization. Genet Med 2006, 8:719-727. 10.1097/01.gim.0000245576.47154.63, 17108764.
-
(2006)
Genet Med
, vol.8
, pp. 719-727
-
-
Sahoo, T.1
Cheung, S.W.2
Ward, P.3
Darilek, S.4
Patel, A.5
del Gaudio, D.6
Kang, S.H.7
Lalani, S.R.8
Li, J.9
McAdoo, S.10
Burke, A.11
Shaw, C.A.12
Stankiewicz, P.13
Chinault, A.C.14
Van den Veyver, I.B.15
Roa, B.B.16
Beaud, A.L.17
Eng, C.M.18
-
8
-
-
33747054494
-
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports
-
10.1136/jmg.2005.039453, 2564583, 16490798
-
Menten B, Maas N, Thienpont B, Buysse K, Vandesompele J, Melotte C, de Ravel T, Van Vooren S, Balikova I, Backx L, Janssens S, De Paepe A, De Moor B, Moreau Y, Marynen P, Fryns JP, Mortier G, Devriendt K, Speleman F, Vermeesch JR. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006, 43:625-633. 10.1136/jmg.2005.039453, 2564583, 16490798.
-
(2006)
J Med Genet
, vol.43
, pp. 625-633
-
-
Menten, B.1
Maas, N.2
Thienpont, B.3
Buysse, K.4
Vandesompele, J.5
Melotte, C.6
de Ravel, T.7
Van Vooren, S.8
Balikova, I.9
Backx, L.10
Janssens, S.11
De Paepe, A.12
De Moor, B.13
Moreau, Y.14
Marynen, P.15
Fryns, J.P.16
Mortier, G.17
Devriendt, K.18
Speleman, F.19
Vermeesch, J.R.20
more..
-
9
-
-
36348975713
-
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future
-
10.1002/ajmg.c.30152, 17910076
-
Shaffer LG, Bejjani BA, Torchia B, Kirkpatrick S, Coppinger J, Ballif BC. The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future. Am J Med Genet C Semin Med Genet 2007, 145C:335-345. 10.1002/ajmg.c.30152, 17910076.
-
(2007)
Am J Med Genet C Semin Med Genet
, vol.145 C
, pp. 335-345
-
-
Shaffer, L.G.1
Bejjani, B.A.2
Torchia, B.3
Kirkpatrick, S.4
Coppinger, J.5
Ballif, B.C.6
-
10
-
-
33645778232
-
Prenatal detection of unbalanced chromosomal rearrangements by array CGH
-
10.1136/jmg.2005.037648, 2563226, 16199537
-
Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, Voglino G, Ng BL, Scott C, Whittaker J, Adinolfi M, Carter NP, Bobrow M. Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet 2006, 43:353-361. 10.1136/jmg.2005.037648, 2563226, 16199537.
-
(2006)
J Med Genet
, vol.43
, pp. 353-361
-
-
Rickman, L.1
Fiegler, H.2
Shaw-Smith, C.3
Nash, R.4
Cirigliano, V.5
Voglino, G.6
Ng, B.L.7
Scott, C.8
Whittaker, J.9
Adinolfi, M.10
Carter, N.P.11
Bobrow, M.12
-
11
-
-
55449129552
-
Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens
-
10.1002/pd.2053, 18646242
-
Shaffer LG, Coppinger J, Alliman S, Torchia BA, Theisen A, Ballif BC, Bejjani BA. Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens. Prenat Diagn 2008, 28:789-795. 10.1002/pd.2053, 18646242.
-
(2008)
Prenat Diagn
, vol.28
, pp. 789-795
-
-
Shaffer, L.G.1
Coppinger, J.2
Alliman, S.3
Torchia, B.A.4
Theisen, A.5
Ballif, B.C.6
Bejjani, B.A.7
-
12
-
-
59449102851
-
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
-
10.1002/pd.2127, 19012303
-
Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaud AL, et al. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases. Prenat Diagn 2009, 29:29-39. 10.1002/pd.2127, 19012303.
-
(2009)
Prenat Diagn
, vol.29
, pp. 29-39
-
-
Van den Veyver, I.B.1
Patel, A.2
Shaw, C.A.3
Pursley, A.N.4
Kang, S.H.5
Simovich, M.J.6
Ward, P.A.7
Darilek, S.8
Johnson, A.9
Neill, S.E.10
Bi, W.11
White, L.D.12
Eng, C.M.13
Lupski, J.R.14
Cheung, S.W.15
Beaud, A.L.16
-
14
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
10.1038/2524, 9771718
-
Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo WL, Chen C, Zhai Y, Dairkee SH, Ljung BM, Gray JW, Albertson DG. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998, 20:207-211. 10.1038/2524, 9771718.
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
Clark, S.4
Poole, I.5
Kowbel, D.6
Collins, C.7
Kuo, W.L.8
Chen, C.9
Zhai, Y.10
Dairkee, S.H.11
Ljung, B.M.12
Gray, J.W.13
Albertson, D.G.14
-
15
-
-
33947237911
-
Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis
-
10.1002/ajmg.c.30114, 17290441
-
Shaffer LG, Bui TH. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet 2007, 145C:87-98. 10.1002/ajmg.c.30114, 17290441.
-
(2007)
Am J Med Genet C Semin Med Genet
, vol.145 C
, pp. 87-98
-
-
Shaffer, L.G.1
Bui, T.H.2
-
16
-
-
33746167778
-
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
-
10.1016/j.jpeds.2006.02.006, 16860135
-
Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA, Shaffer LG, Kashork CD, Saleki R. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006, 149:98-102. 10.1016/j.jpeds.2006.02.006, 16860135.
-
(2006)
J Pediatr
, vol.149
, pp. 98-102
-
-
Shaffer, L.G.1
Kashork, C.D.2
Saleki, R.3
Rorem, E.4
Sundin, K.5
Ballif, B.C.6
Bejjani, B.A.7
Shaffer, L.G.8
Kashork, C.D.9
Saleki, R.10
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