-
1
-
-
9144240478
-
Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities
-
DOI 10.1086/379977
-
Vissers LE, de Vries BB, Osoegava K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EH, van Rijk A, Smeets D, van Ravenswaaij-Arts CM, Knoers NV, van der Burgt I, de Jong PJ, Brunner HG, van Kessel AG, Schoenmakers EF, Veltman JA: Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 2003, 73:1261-1270 (Pubitemid 38037420)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.6
, pp. 1261-1270
-
-
Vissers, L.E.L.M.1
De Vries, B.B.A.2
Osoegawa, K.3
Janssen, I.M.4
Feuth, T.5
Choy, C.O.6
Straatman, H.7
Van Der Vliet, W.8
Huys, E.H.L.P.G.9
Van Rijk, A.10
Smeets, D.11
Van Ravenswaaij-Arts, C.M.A.12
Knoers, N.V.13
Van Der Burgt, I.14
De Jong, P.J.15
Brunner, H.G.16
Van Kessel, A.G.17
Schoenmakers, E.F.P.M.18
Veltman, J.A.19
-
2
-
-
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, 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 (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..
-
3
-
-
33646505092
-
X-linked mental retardation: Many genes for a complex disorder
-
Ropers H-H: X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev 2006, 16:260-269
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 260-269
-
-
Ropers, H.-H.1
-
4
-
-
0035464960
-
Monogenic causes of x-linked mental retardation
-
DOI 10.1038/35088558
-
Chelly J, Mandel JL: Monogenic causes of X-linked mental retardation. Nat Rev Genet 2001, 2:669-680 (Pubitemid 33674789)
-
(2001)
Nature Reviews Genetics
, vol.2
, Issue.9
, pp. 669-680
-
-
Chelly, J.1
Mandel, J.-L.2
-
5
-
-
4644244222
-
Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations
-
Mandel JL, Chelly J: Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 2004, 12:689-693
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 689-693
-
-
Mandel, J.L.1
Chelly, J.2
-
7
-
-
40849131338
-
XLMR genes: Update 2007
-
Chiurazzi P, Schwartz CE, Gecz J, Neri G: XLMR genes: update 2007. Eur J Hum Genet 2008, 16:422-434
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 422-434
-
-
Chiurazzi, P.1
Schwartz, C.E.2
Gecz, J.3
Neri, G.4
-
8
-
-
31544453949
-
ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation
-
DOI 10.1086/500306
-
Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, van Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, van Bokhoven H: ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet, 2006, 78:265-278 (Pubitemid 43157566)
-
(2006)
American Journal of Human Genetics
, vol.78
, Issue.2
, pp. 265-278
-
-
Lugtenberg, D.1
Yntema, H.G.2
Banning, M.J.G.3
Oudakker, A.R.4
Firth, H.V.5
Willatt, L.6
Raynaud, M.7
Kleefstra, T.8
Fryns, J.-P.9
Ropers, H.-H.10
Chelly, J.11
Moraine, C.12
Gecz, J.13
Van Reeuwijk, J.14
Nabuurs, S.B.15
De Vries, B.B.A.16
Hamel, B.C.J.17
De Brouwer, A.P.M.18
Van Bokhoven, H.19
-
9
-
-
23944447954
-
X chromosome array-CGH for the identification of novel X-linked mental retardation genes
-
DOI 10.1016/j.ejmg.2005.04.008, PII S1769721205000881, Array-CGH
-
Bauters M, Van Esch H, Marynen P, Froyen G: X chromosome array- CGH for the identification of novel X-linked mental retardation genes. Eur J Med Genet 2005, 48:263-275 (Pubitemid 41354319)
-
(2005)
European Journal of Medical Genetics
, vol.48
, Issue.3
, pp. 263-275
-
-
Bauters, M.1
Van Esch, H.2
Marynen, P.3
Froyen, G.4
-
10
-
-
33846303604
-
Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization
-
DOI 10.1038/sj.ejhg.5201738, PII 5201738
-
Patsalis PC, Kousoulidou L, Männik K, Sismani C, Zilina O, Parkel S, Puusepp H, Tõnisson N, Palta P, Remm M, Kurg A: Detection of small genomic imbalances using microarray-based multiplex amplifiable probe hybridization. Eur J Hum Genet 2007, 15:162-172 (Pubitemid 46111854)
-
(2007)
European Journal of Human Genetics
, vol.15
, Issue.2
, pp. 162-172
-
-
Patsalis, P.C.1
Kousoulidou, L.2
Mannik, K.3
Sismani, C.4
Zilina, O.5
Parkel, S.6
Puusepp, H.7
Tonisson, N.8
Palta, P.9
Remm, M.10
Kurg, A.11
-
11
-
-
2942729593
-
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation
-
Veltman JA, Yntema HG, Lugtenberg D, Arts H, Briault S, Huys EH, Osoegawa K, de Jong P, Brunner HG, Geurts van Kessel A, van Bokhoven H, Schoenmakers EF: High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation. J Med Genet 2004, 41:425-432 (Pubitemid 38788037)
-
(2004)
Journal of Medical Genetics
, vol.41
, Issue.6
, pp. 425-432
-
-
Veltman, J.A.1
Yntema, H.G.2
Lugtenberg, D.3
Arts, H.4
Briault, S.5
Huys, E.H.L.P.G.6
Osoegawa, K.7
De Jong, P.8
Brunner, H.G.9
Geurts Van Kessel, A.10
Van Bokhoven, H.11
Schoenmakers, E.F.P.M.12
-
12
-
-
23944503759
-
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
-
DOI 10.1086/444549
-
Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G: Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 2005, 77:442-453 (Pubitemid 41192650)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.3
, pp. 442-453
-
-
Van Esch, H.1
Bauters, M.2
Ignatius, J.3
Jansen, M.4
Raynaud, M.5
Hollanders, K.6
Lugtenberg, D.7
Bienvenu, T.8
Jensen, L.R.9
Gecz, J.10
Moraine, C.11
Marynen, P.12
Fryns, J.-P.13
Froyen, G.14
-
13
-
-
36448970896
-
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
-
DOI 10.1016/j.ejmg.2007.09.001, PII S1769721207000985
-
Kousoulidou L, Parkel S, Zilina O, Palta P, Puusepp H, Remm M, Turner G, Boyle J, van Bokhoven H, de Brouwer A, Van Esch H, Froyen G, Ropers HH, Chelly J, Moraine C, Gecz J, Kurg A, Patsalis PC: Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. Eur J Med Genet 2007, 50:399-410 (Pubitemid 350167547)
-
(2007)
European Journal of Medical Genetics
, vol.50
, Issue.6
, pp. 399-410
-
-
Kousoulidou, L.1
Parkel, S.2
Zilina, O.3
Palta, P.4
Puusepp, H.5
Remm, M.6
Turner, G.7
Boyle, J.8
Van Bokhoven, H.9
De Brouwer, A.10
Van Esch, H.11
Froyen, G.12
Ropers, H.-H.13
Chelly, J.14
Moraine, C.15
Gecz, J.16
Kurg, A.17
Patsalis, P.C.18
-
14
-
-
34948899272
-
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: Important role for increased gene dosage of XLMR genes
-
DOI 10.1002/humu.20564
-
Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, Devriendt K, Fryns JP, Marynen P: Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat 2007, 28:1034-1042 (Pubitemid 47519397)
-
(2007)
Human Mutation
, vol.28
, Issue.10
, pp. 1034-1042
-
-
Froyen, G.1
Van Esch, H.2
Bauters, M.3
Hollanders, K.4
Frints, S.G.M.5
Vermeesch, J.R.6
Devriendt, K.7
Fryns, J.-P.8
Marynen, P.9
-
15
-
-
25844494223
-
Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH
-
DOI 10.1002/gcc.20243
-
Selzer RR, Richmond TA, Pofahl NJ, Green RD, Eis PS, Nair P, Brothman AR, Stallings RL: Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer 2005, 44:305-319 (Pubitemid 41397100)
-
(2005)
Genes Chromosomes and Cancer
, vol.44
, Issue.3
, pp. 305-319
-
-
Selzer, R.R.1
Richmond, T.A.2
Pofahl, N.J.3
Green, R.D.4
Eis, P.S.5
Nair, P.6
Brothman, A.R.7
Stallings, R.L.8
-
16
-
-
33751345434
-
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays
-
DOI 10.1101/gr.5629106
-
Komura D, Shen F, Ishikawa S, Fitch KR, Chen W, Zhang J, Liu G, Ihara S, Nakamura H, Hurles ME, Lee C, Scherer SW, Jones KW, Shapero MH, Huang J, Aburatani H: Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res 2006, 16:1575-1584 (Pubitemid 44878496)
-
(2006)
Genome Research
, vol.16
, Issue.12
, pp. 1575-1584
-
-
Komura, D.1
Shen, F.2
Ishikawa, S.3
Fitch, K.R.4
Chen, W.5
Zhang, J.6
Liu, G.7
Ihara, S.8
Nakamura, H.9
Hurles, M.E.10
Lee, C.11
Scherer, S.W.12
Jones, K.W.13
Shapero, M.H.14
Huang, J.15
Aburatani, H.16
-
17
-
-
33748559840
-
The forgotten variables of DNA array hybridization
-
DOI 10.1016/j.tibtech.2006.07.006, PII S0167779906001855
-
Carletti E, Guerra E, Alberti S: The forgotten variables of DNA array hybridization. Trends Biotechnol 2006, 24:443-448 (Pubitemid 44374779)
-
(2006)
Trends in Biotechnology
, vol.24
, Issue.10
, pp. 443-448
-
-
Carletti, E.1
Guerra, E.2
Alberti, S.3
-
18
-
-
17644397384
-
Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome
-
DOI 10.1086/429588
-
Dhami P, Coffey AJ, Abbs S, Vermeesch JR, Dumanski JP, Woodward KJ, Andrews RM, Langford C, Vetrie D: Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 2005, 76:750-762 (Pubitemid 40563097)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.5
, pp. 750-762
-
-
Dhami, P.1
Coffey, A.J.2
Abbs, S.3
Vermeesch, J.R.4
Dumanski, J.P.5
Woodward, K.J.6
Andrews, R.M.7
Langford, C.8
Vetrie, D.9
-
19
-
-
51549094171
-
Microarray-based mutation detection in the dystrophin gene
-
Hegde MR, Chin ELH, Mulle JG, Okou DT, Warren ST, Zwick ME: Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008, 29:1091-1099
-
(2008)
Hum Mutat
, vol.29
, pp. 1091-1099
-
-
Hegde, M.R.1
Chin, E.L.H.2
Mulle, J.G.3
Okou, D.T.4
Warren, S.T.5
Zwick, M.E.6
-
20
-
-
52949141845
-
Integrated detection and population-genetic analysis of SNPs and copy number variation
-
McCarroll SA, Kuruvilla FG, Korn JM, Cawley S, Nemesh J, Wysoker A, Shapero MH, de Bakker PIW, Maller JB, Kirby A, Elliott AL, Parkin M, Hubbell E, Webster T, Mei R, Veitch J, Collins PJ, Handsaker R, Lincoln S, Nizzari M, Blume J, Jones KW, Rava R, Daly MJ, Gabriel SB, Altshuler D: Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet 2008, 40:1166-1174
-
(2008)
Nat Genet
, vol.40
, pp. 1166-1174
-
-
McCarroll, S.A.1
Kuruvilla, F.G.2
Korn, J.M.3
Cawley, S.4
Nemesh, J.5
Wysoker, A.6
Shapero, M.H.7
De Bakker, P.I.W.8
Maller, J.B.9
Kirby, A.10
Elliott, A.L.11
Parkin, M.12
Hubbell, E.13
Webster, T.14
Mei, R.15
Veitch, J.16
Collins, P.J.17
Handsaker, R.18
Lincoln, S.19
Nizzari, M.20
Blume, J.21
Jones, K.W.22
Rava, R.23
Daly, M.J.24
Gabriel, S.B.25
Altshuler, D.26
more..
-
21
-
-
10844232112
-
Whole genome DNA copy number changes identified by high density oligonucleotide arrays
-
Huang J, Wei W, Zhang J, Liu G, Bignell GR, Stratton MR, Futreal PA, Wooster R, Jones KW, Shapero MH: Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum Genomics 2004, 1:287-299
-
(2004)
Hum Genomics
, vol.1
, pp. 287-299
-
-
Huang, J.1
Wei, W.2
Zhang, J.3
Liu, G.4
Bignell, G.R.5
Stratton, M.R.6
Futreal, P.A.7
Wooster, R.8
Jones, K.W.9
Shapero, M.H.10
-
22
-
-
34248221547
-
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
-
DOI 10.1007/s00439-007-0343-1
-
Froyen G, Bauters M, Boyle J, Van Esch H, Govaerts K, van Bokhoven H, Ropers HH, Moraine C, Chelly J, Fryns JP, Marynen P, Gecz J, Turner G: Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Hum Genet 2007, 121:539-547 (Pubitemid 46706065)
-
(2007)
Human Genetics
, vol.121
, Issue.5
, pp. 539-547
-
-
Froyen, G.1
Bauters, M.2
Boyle, J.3
Van Esch, H.4
Govaerts, K.5
Van Bokhoven, H.6
Ropers, H.-H.7
Moraine, C.8
Chelly, J.9
Fryns, J.-P.10
Marynen, P.11
Gecz, J.12
Turner, G.13
-
23
-
-
19944418773
-
Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA
-
DOI 10.1073/pnas.0407979101
-
Barrett MT, Scheffer A, Ben-Dor A, Sampas N, Lipson D, Kincaid R, Tsang P, Curry B, Baird K, Meltzer PS, Yakhini Z, Bruhn L, Laderman S: Comparative genomic hybridization using oligonucleotide microarrays and total genomic DNA. Proc Natl Acad Sci USA 2004, 101:17765-17770 (Pubitemid 40051961)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.51
, pp. 17765-17770
-
-
Barrett, M.T.1
Scheffer, A.2
Ben-Dor, A.3
Sampas, N.4
Lipson, D.5
Kincaid, R.6
Tsang, P.7
Curry, B.8
Baird, K.9
Meltzer, P.S.10
Yakhini, Z.11
Bruhn, L.12
Laderman, S.13
-
24
-
-
34147104969
-
A faster circular binary segmentation algorithm for the analysis of array CGH data
-
DOI 10.1093/bioinformatics/btl646
-
Venkatraman ES, Olshen AB: A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics 2007, 15;23:657-663 (Pubitemid 46554715)
-
(2007)
Bioinformatics
, vol.23
, Issue.6
, pp. 657-663
-
-
Venkatraman, E.S.1
Olshen, A.B.2
-
25
-
-
25144489523
-
MAPH: From gels to microarrays
-
Patsalis PC, Kousoulidou L, Sismani C, Mannik K, Kurg A: MAPH: from gels to microarrays. Eur J Med Genet 2005, 48:241-249
-
(2005)
Eur J Med Genet
, vol.48
, pp. 241-249
-
-
Patsalis, P.C.1
Kousoulidou, L.2
Sismani, C.3
Mannik, K.4
Kurg, A.5
-
26
-
-
34447309023
-
A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
-
DOI 10.1016/j.ejmg.2007.05.001, PII S176972120700050X
-
Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M: A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet 2007, 50:256-263 (Pubitemid 47058420)
-
(2007)
European Journal of Medical Genetics
, vol.50
, Issue.4
, pp. 256-263
-
-
Kirchhoff, M.1
Bisgaard, A.-M.2
Duno, M.3
Hansen, F.J.4
Schwartz, M.5
-
27
-
-
29444441336
-
A high-resolution survey of deletion polymorphism in the human genome
-
DOI 10.1038/ng1697
-
Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK: A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 2006, 38:75-81 (Pubitemid 43011885)
-
(2006)
Nature Genetics
, vol.38
, Issue.1
, pp. 75-81
-
-
Conrad, D.F.1
Andrews, T.D.2
Carter, N.P.3
Hurles, M.E.4
Pritchard, J.K.5
-
28
-
-
22244459202
-
On the probability that a novel variant is a disease-causing mutation
-
DOI 10.1101/gr.3761405
-
Mitchell AA, Chakravarti A, Cutler DJ: On the probability that a novel variant is a disease-causing mutation. Genome Res 2005, 15:960-966 (Pubitemid 40994216)
-
(2005)
Genome Research
, vol.15
, Issue.7
, pp. 960-966
-
-
Mitchell, A.A.1
Chakravarti, A.2
Cutler, D.J.3
|