-
1
-
-
34748865750
-
Guidelines for molecular karyotyping in constitutional genetic diagnosis
-
DOI 10.1038/sj.ejhg.5201896, PII 5201896
-
Vermeesch JR, Fiegler H, de Leeuw N, et al. Guidelines for molecular karyotyping in constitutional genetic diagnosis. Euro J Hum Genet 2007;15:1105-14. (Pubitemid 350011675)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.11
, pp. 1105-1114
-
-
Vermeesch, J.R.1
Fiegler, H.2
De Leeuw, N.3
Szuhai, K.4
Schoumans, J.5
Ciccone, R.6
Speleman, F.7
Rauch, A.8
Clayton-Smith, J.9
Van Ravenswaaij, C.10
Sanlaville, D.11
Patsalis, P.C.12
Firth, H.13
Devriendt, K.14
Zuffardi, O.15
-
2
-
-
48849108010
-
Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
-
Baldwin EL, Lee JY, Blake DM, et al. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 2008;10:415-29.
-
(2008)
Genet Med
, vol.10
, pp. 415-429
-
-
Baldwin, E.L.1
Lee, J.Y.2
Blake, D.M.3
-
3
-
-
34249680839
-
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
-
DOI 10.1016/j.gde.2007.04.009, PII S0959437X07000743
-
Stankiewicz P, Beaudet AL. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 2007;17:182-92. (Pubitemid 46843553)
-
(2007)
Current Opinion in Genetics and Development
, vol.17
, Issue.3
, pp. 182-192
-
-
Stankiewicz, P.1
Beaudet, A.L.2
-
4
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
DOI 10.1038/ng1416
-
Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large scale variation in the human genome. Nature Genet 2004;36:949-51. (Pubitemid 39167488)
-
(2004)
Nature Genetics
, vol.36
, Issue.9
, pp. 949-951
-
-
Iafrate, A.J.1
Feuk, L.2
Rivera, M.N.3
Listewnik, M.L.4
Donahoe, P.K.5
Qi, Y.6
Scherer, S.W.7
Lee, C.8
-
5
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
DOI 10.1126/science.1098918
-
Sebat J, Lakshmi B, Troge J, et al. Large-scale copy number polymorphism in the human genome. Science 2004;305:525-8. (Pubitemid 38971344)
-
(2004)
Science
, vol.305
, Issue.5683
, pp. 525-528
-
-
Sebat, J.1
Lakshmi, B.2
Troge, J.3
Alexander, J.4
Young, J.5
Lundin, P.6
Maner, S.7
Massa, H.8
Walker, M.9
Chi, M.10
Navin, N.11
Lucito, R.12
Healy, J.13
Hicks, J.14
Ye, K.15
Reiner, A.16
Gilliam, T.C.17
Trask, B.18
Patterson, N.19
Zetterberg, A.20
Wigler, M.21
more..
-
6
-
-
33751329250
-
Global variation in copy number in the human genome
-
DOI 10.1038/nature05329, PII NATURE05329
-
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006;444:444-54. (Pubitemid 44809057)
-
(2006)
Nature
, vol.444
, Issue.7118
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
Gonzalez, J.R.14
Gratacos, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Zhang, J.33
Armengol, L.34
Conrad, D.F.35
Estivill, X.36
Tyler-Smith, C.37
Carter, N.P.38
Aburatani, H.39
Lee, C.40
Jones, K.W.41
Scherer, S.W.42
Hurles, M.E.43
more..
-
7
-
-
41149140876
-
The fine-scale and complex architecture of human copy-number variation
-
Perry GH, Ben-Dor A, Tsalenko A, et al. The fine-scale and complex architecture of human copy-number variation. Am J Hum Genet 2008;82:685-95.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 685-695
-
-
Perry, G.H.1
Ben-Dor, A.2
Tsalenko, A.3
-
8
-
-
33751528772
-
Whole-genome array-CGH screening in undiagnosed syndromic patients: Old syndromes revisited and new alterations
-
DOI 10.1159/000095922
-
Krepischi-Santos ACV, Vianna-Morgante AM, Jehee FS, et al. Whole-genome array-CGH screening in undiagnosed syndromic patients: Old syndromes revisited and new alterations. Cytogenet Genome Res 2006;115:254-61. (Pubitemid 44832028)
-
(2006)
Cytogenetic and Genome Research
, vol.115
, Issue.3-4
, pp. 254-261
-
-
Krepischi-Santos, A.C.V.1
Vianna-Morgante, A.M.2
Jehee, F.S.3
Passos-Bueno, M.R.4
Knijnenburg, J.5
Szuhai, K.6
Sloos, W.7
Mazzeu, J.F.8
Kok, F.9
Cheroki, C.10
Otto, P.A.11
Mingroni-Netto, R.C.12
Varela, M.13
Koiffmann, C.14
Kim, C.A.15
Bertola, D.R.16
Pearson, P.L.17
Rosenberg, C.18
-
9
-
-
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
-
DOI 10.1136/jmg.2005.039453
-
Menten B, Maas N, Thienpont B, et al. 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;43:625-33. (Pubitemid 44214899)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.8
, 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..
-
10
-
-
33749465589
-
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
-
DOI 10.1002/ajmg.a.31416
-
Rauch A, Hoyer J, Guth S, et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet 2006;140:2063-74. (Pubitemid 44522453)
-
(2006)
American Journal of Medical Genetics, Part A
, vol.140
, Issue.19
, pp. 2063-2074
-
-
Rauch, A.1
Hoyer, J.2
Guth, S.3
Zweier, C.4
Kraus, C.5
Becker, C.6
Zenker, M.7
Huffmeier, U.8
Thiel, C.9
Ruschendorf, F.10
Nurnberg, P.11
Reis, A.12
Trautmann, U.13
-
11
-
-
32944465548
-
Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents
-
DOI 10.1136/jmg.2005.032268
-
Rosenberg C, Knijnenburg J, Bakker E, et al. Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents. J Med Genet 2006;43:180-6. (Pubitemid 43259635)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.2
, pp. 180-186
-
-
Rosenberg, C.1
Knijnenburg, J.2
Bakker, E.3
Vianna-Morgante, A.M.4
Sloos, W.5
Otto, P.A.6
Kriek, M.7
Hansson, K.8
Krepischi-Santos, A.C.V.9
Fiegler, H.10
Carter, N.P.11
Bijlsma, E.K.12
Van Haeringen, A.13
Szuhai, K.14
Tanke, H.J.15
-
12
-
-
33746167778
-
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
-
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.
-
(2006)
J Pediatr
, vol.149
, pp. 98-102
-
-
Shaffer, L.G.1
Kashork, C.D.2
Saleki, R.3
-
13
-
-
36348975713
-
The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future
-
DOI 10.1002/ajmg.c.30152
-
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;145:335-45. (Pubitemid 350155972)
-
(2007)
American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
, vol.145
, Issue.4
, pp. 335-345
-
-
Shaffer, L.G.1
Bejjani, B.A.2
Torchia, B.3
Kirkpatrick, S.4
Coppinger, J.5
Ballif, B.C.6
-
14
-
-
34548699104
-
Microarray analysis for constitutional cytogenetic abnormalities
-
DOI 10.1097/GIM.0b013e31814ce3d9, PII 0012581720070900000014
-
Shaffer LG, Beaudet AL, Brothman AR, et al. Microarray analysis for constitutional cytogenetic abnormalities. Genet Med 2007;9:654-62. (Pubitemid 47415276)
-
(2007)
Genetics in Medicine
, vol.9
, Issue.9
, pp. 654-662
-
-
Shaffer, L.G.1
Beaudet, A.L.2
Brothman, A.R.3
Hirsch, B.4
Levy, B.5
Martin, C.L.6
Mascarello, J.T.7
Rao, K.W.8
-
15
-
-
11144356173
-
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
-
Shaw-Smith C, Redon R, Rickman L. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 2004;41:241-8. (Pubitemid 38496765)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.4
, pp. 241-248
-
-
Shaw-Smith, C.1
Redon, R.2
Rickman, L.3
Rio, M.4
Willatt, L.5
Fiegler, H.6
Firth, H.7
Sanlaville, D.8
Winter, R.9
Colleaux, L.10
Bobrow, M.11
Carter, N.P.12
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