-
2
-
-
0038392953
-
The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation
-
Flint J, Knight S. The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation. Curr Opin Genet Dev 2003;13:310-16.
-
(2003)
Curr Opin Genet Dev
, vol.13
, pp. 310-316
-
-
Flint, J.1
Knight, S.2
-
3
-
-
0033986825
-
Outcome of the routine assessment of patients with mental retardation in a genetics clinic
-
Hunter AG. Outcome of the routine assessment of patients with mental retardation in a genetics clinic. Am J Med Genet 2000;90:60-8.
-
(2000)
Am J Med Genet
, vol.90
, pp. 60-68
-
-
Hunter, A.G.1
-
4
-
-
33749465589
-
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
-
Rauch A, Hover J, Guth G, Zweier C, Kraus C, Becker C, Zenker M, Hüffmeier U, Thiel C, Rüschendorf F, Nürnberg P, Reis A, Trautmann U. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet 2006;140A:2063-74.
-
(2006)
Am J Med Genet
, vol.140 A
, pp. 2063-2074
-
-
Rauch, A.1
Hover, J.2
Guth, G.3
Zweier, C.4
Kraus, C.5
Becker, C.6
Zenker, M.7
Hüffmeier, U.8
Thiel, C.9
Rüschendorf, F.10
Nürnberg, P.11
Reis, A.12
Trautmann, U.13
-
5
-
-
31944447396
-
BAC array CGH reveals genomic aberrations in idiopathic mental retardation
-
Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. BAC array CGH reveals genomic aberrations in idiopathic mental retardation. Am J Med Genet A 2006;140:205-11.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 205-211
-
-
Miyake, N.1
Shimokawa, O.2
Harada, N.3
Sosonkina, N.4
Okubo, A.5
Kawara, H.6
Okamoto, N.7
Kurosawa, K.8
Kawame, H.9
Iwakoshi, M.10
Kosho, T.11
Fukushima, Y.12
Makita, Y.13
Yokoyama, Y.14
Yamagata, T.15
Kato, M.16
Hiraki, Y.17
Nomura, M.18
Yoshiura, K.19
Kishino, T.20
Ohta, T.21
Mizuguchi, T.22
Niikawa, N.23
Matsumoto, N.24
more..
-
6
-
-
24944478689
-
Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH)
-
Schoumans J, Ruivenkamp C, Holmberg E, Kyllerman M, Anderlid BM, Nordenskjold M. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH). J Med Genet 2005;42:699-705.
-
(2005)
J Med Genet
, vol.42
, pp. 699-705
-
-
Schoumans, J.1
Ruivenkamp, C.2
Holmberg, E.3
Kyllerman, M.4
Anderlid, B.M.5
Nordenskjold, M.6
-
7
-
-
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, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 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.
-
(2004)
J Med Genet
, vol.41
, 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
-
8
-
-
9144240478
-
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
-
Vissers LE, de Vries BB, Osoegawa 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;73:1261-70.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1261-1270
-
-
Vissers, L.E.1
de Vries, B.B.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.9
van Rijk, A.10
Smeets, D.11
van Ravenswaaij-Arts, C.M.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.18
Veltman, J.A.19
-
9
-
-
33751503099
-
Molecular karyotyping of patients with MCA/MR: The blurred boundary between normal and pathogenic variation
-
de Ravel TJ, Balikova I, Thienpont B, Hannes F, Maas N, Fryns JP, Devriendt K, Vermeesch JR. Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. Cytogenet Genome Res 2006;115:225-30.
-
(2006)
Cytogenet Genome Res
, vol.115
, pp. 225-230
-
-
de Ravel, T.J.1
Balikova, I.2
Thienpont, B.3
Hannes, F.4
Maas, N.5
Fryns, J.P.6
Devriendt, K.7
Vermeesch, J.R.8
-
10
-
-
25444432040
-
Diagnostic genome profiling in mental retardation
-
de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal S, Nillesen WM, Huys EH, Leeuw N, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005;77:606-16.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 606-616
-
-
de Vries, B.B.1
Pfundt, R.2
Leisink, M.3
Koolen, D.A.4
Vissers, L.E.5
Janssen, I.M.6
Reijmersdal, S.7
Nillesen, W.M.8
Huys, E.H.9
Leeuw, N.10
Smeets, D.11
Sistermans, E.A.12
Feuth, T.13
van Ravenswaaij-Arts, C.M.14
van Kessel, A.G.15
Schoenmakers, E.F.16
Brunner, H.G.17
Veltman, J.A.18
-
11
-
-
10844222511
-
Molecular karyotyping using an SNP array for genomewide genotyping
-
Rauch A, Ruschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nurnberg P. Molecular karyotyping using an SNP array for genomewide genotyping. J Med Genet 2004;41:916-22.
-
(2004)
J Med Genet
, vol.41
, pp. 916-922
-
-
Rauch, A.1
Ruschendorf, F.2
Huang, J.3
Trautmann, U.4
Becker, C.5
Thiel, C.6
Jones, K.W.7
Reis, A.8
Nurnberg, P.9
-
12
-
-
33748644928
-
-
Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006;79:500-13.
-
Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong L, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJ, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T, Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong SL, Zahir F, Eydoux P, Marra MA. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet 2006;79:500-13.
-
-
-
-
13
-
-
33646361831
-
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays
-
Ming JE, Geiger E, James AC, Ciprero KL, Nimmakayalu M, Zhang Y, Huang A, Vaddi M, Rappaport E, Zackai EH, Shaikh TH. Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays. Hum Mutat 2006;27:467-73.
-
(2006)
Hum Mutat
, vol.27
, pp. 467-473
-
-
Ming, J.E.1
Geiger, E.2
James, A.C.3
Ciprero, K.L.4
Nimmakayalu, M.5
Zhang, Y.6
Huang, A.7
Vaddi, M.8
Rappaport, E.9
Zackai, E.H.10
Shaikh, T.H.11
-
15
-
-
0033851883
-
An optimized set of human telomere clones for studying telomere integrity and architecture
-
Knight SJ, Lese CM, Precht KS, Kuc J, Ning Y, Lucas S, Regan R, Brenan M, Nicod A, Lawrie NM, Cardy DL, Nguyen H, Hudson TJ, Riethman HC, Ledbetter DH, Flint J. An optimized set of human telomere clones for studying telomere integrity and architecture. Am J Hum Genet 2000;67:320- 32.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 320-332
-
-
Knight, S.J.1
Lese, C.M.2
Precht, K.S.3
Kuc, J.4
Ning, Y.5
Lucas, S.6
Regan, R.7
Brenan, M.8
Nicod, A.9
Lawrie, N.M.10
Cardy, D.L.11
Nguyen, H.12
Hudson, T.J.13
Riethman, H.C.14
Ledbetter, D.H.15
Flint, J.16
-
16
-
-
0035083998
-
Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
-
de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 2001;38:145-50.
-
(2001)
J Med Genet
, vol.38
, pp. 145-150
-
-
de Vries, B.B.1
White, S.M.2
Knight, S.J.3
Regan, R.4
Homfray, T.5
Young, I.D.6
Super, M.7
McKeown, C.8
Splitt, M.9
Quarrell, O.W.10
Trainer, A.H.11
Niermeijer, M.F.12
Malcolm, S.13
Flint, J.14
Hurst, J.A.15
Winter, R.M.16
-
17
-
-
33748117654
-
Epithelial cells from buccal smears and urine
-
Rautenstrauss B, Liehr T, eds, Heidelberg: Springer
-
Rauch A. Epithelial cells from buccal smears and urine. In: Rautenstrauss B, Liehr T, eds. FISH technologies. Springer lab manual. Heidelberg: Springer, 2002;97-108).
-
(2002)
FISH technologies. Springer lab manual
, pp. 97-108
-
-
Rauch, A.1
-
18
-
-
0037299356
-
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP
-
Thiel CT, Kraus C, Rauch A, Ekici AB, Rautenstrauss B, Reis A. A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet 2003;11:170-8.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 170-178
-
-
Thiel, C.T.1
Kraus, C.2
Rauch, A.3
Ekici, A.B.4
Rautenstrauss, B.5
Reis, A.6
-
19
-
-
22244453416
-
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays
-
Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, Hangaishi A, Kurokawa M, Chiba S, Bailey DK, Kennedy GC, Ogawa S. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 2005;65:6071-9.
-
(2005)
Cancer Res
, vol.65
, pp. 6071-6079
-
-
Nannya, Y.1
Sanada, M.2
Nakazaki, K.3
Hosoya, N.4
Wang, L.5
Hangaishi, A.6
Kurokawa, M.7
Chiba, S.8
Bailey, D.K.9
Kennedy, G.C.10
Ogawa, S.11
-
20
-
-
34147169956
-
Characterization of Potocki-Lupski syndrome (dup(1 7)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype
-
Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR. Characterization of Potocki-Lupski syndrome (dup(1 7)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007;80:633- 49.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 633-649
-
-
Potocki, L.1
Bi, W.2
Treadwell-Deering, D.3
Carvalho, C.M.4
Eifert, A.5
Friedman, E.M.6
Glaze, D.7
Krull, K.8
Lee, J.A.9
Lewis, R.A.10
Mendoza-Londono, R.11
Robbins-Furman, P.12
Shaw, C.13
Shi, X.14
Weissenberger, G.15
Withers, M.16
Yatsenko, S.A.17
Zackai, E.H.18
Stankiewicz, P.19
Lupski, J.R.20
more..
-
21
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
-
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006;38:999-1001.
-
(2006)
Nat Genet
, vol.38
, pp. 999-1001
-
-
Koolen, D.A.1
Vissers, L.E.2
Pfundt, R.3
de Leeuw, N.4
Knight, S.J.5
Regan, R.6
Kooy, R.F.7
Reyniers, E.8
Romano, C.9
Fichera, M.10
Schinzel, A.11
Baumer, A.12
Anderlid, B.M.13
Schoumans, J.14
Knoers, N.V.15
van Kessel, A.G.16
Sistermans, E.A.17
Veltman, J.A.18
Brunner, H.G.19
de Vries, B.B.20
more..
-
22
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
-
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 2006;38:1038-42.
-
(2006)
Nat Genet
, vol.38
, pp. 1038-1042
-
-
Sharp, A.J.1
Hansen, S.2
Selzer, R.R.3
Cheng, Z.4
Regan, R.5
Hurst, J.A.6
Stewart, H.7
Price, S.M.8
Blair, E.9
Hennekam, R.C.10
Fitzpatrick, C.A.11
Segraves, R.12
Richmond, T.A.13
Guiver, C.14
Albertson, D.G.15
Pinkel, D.16
Eis, P.S.17
Schwartz, S.18
Knight, S.J.19
Eichler, E.E.20
more..
-
23
-
-
33748300645
-
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
-
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet 2006;38:1032-7.
-
(2006)
Nat Genet
, vol.38
, pp. 1032-1037
-
-
Shaw-Smith, C.1
Pittman, A.M.2
Willatt, L.3
Martin, H.4
Rickman, L.5
Gribble, S.6
Curley, R.7
Cumming, S.8
Dunn, C.9
Kalaitzopoulos, D.10
Porter, K.11
Prigmore, E.12
Krepischi-Santos, A.C.13
Varela, M.C.14
Koiffmann, C.P.15
Lees, A.J.16
Rosenberg, C.17
Firth, H.V.18
de Silva, R.19
Carter, N.P.20
more..
-
24
-
-
33846006596
-
A comprehensive analysis of common copy-number variations in the human genome
-
Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, MacAulay C, Ng RT, Brown CJ, Eichler EE, Lam WL. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 2007;80:91-104.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 91-104
-
-
Wong, K.K.1
deLeeuw, R.J.2
Dosanjh, N.S.3
Kimm, L.R.4
Cheng, Z.5
Horsman, D.E.6
MacAulay, C.7
Ng, R.T.8
Brown, C.J.9
Eichler, E.E.10
Lam, W.L.11
-
25
-
-
33846531959
-
Genomewide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
-
Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A. Genomewide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 2007;16:1-14.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1-14
-
-
Simon-Sanchez, J.1
Scholz, S.2
Fung, H.C.3
Matarin, M.4
Hernandez, D.5
Gibbs, J.R.6
Britton, A.7
de Vrieze, F.W.8
Peckham, E.9
Gwinn-Hardy, K.10
Crawley, A.11
Keen, J.C.12
Nash, J.13
Borgaonkar, D.14
Hardy, J.15
Singleton, A.16
-
26
-
-
33751329250
-
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwork C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome. Nature 2006;444:444-54.
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwork C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome. Nature 2006;444:444-54.
-
-
-
-
27
-
-
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
-
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;43:625-33.
-
(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..
-
28
-
-
32944465548
-
Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents
-
Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ. 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.
-
(2006)
J Med Genet
, vol.43
, 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.9
Fiegler, H.10
Carter, N.P.11
Bijlsma, E.K.12
van Haeringen, A.13
Szuhai, K.14
Tanke, H.J.15
-
29
-
-
28444466985
-
Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
-
Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis ME, Van Allen M, Somerville M, Arbour L, Clarke L, McGilivray B, Yong SL, Siegel-Bartel J, Rajcan-Separovic E. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 2005;139:173-85.
-
(2005)
Am J Med Genet A
, vol.139
, pp. 173-185
-
-
Tyson, C.1
Harvard, C.2
Locker, R.3
Friedman, J.M.4
Langlois, S.5
Lewis, M.E.6
Van Allen, M.7
Somerville, M.8
Arbour, L.9
Clarke, L.10
McGilivray, B.11
Yong, S.L.12
Siegel-Bartel, J.13
Rajcan-Separovic, E.14
-
30
-
-
0033987366
-
-
Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyone-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2, the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-7.
-
Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyone-Yeboa K, Kashork CD, Shaffer LG, Lupski JR. Molecular mechanism for duplication 17p11.2, the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-7.
-
-
-
-
31
-
-
34247641061
-
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
-
Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, Göhring I, Devriendt K, de Ravel T, Bijlsma EK, Hennekam RCM, Orrico A, Cohen M, Dreweke A, Reis A, Nürnberg P, Rauch A. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet 2007;80:994-1001.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 994-1001
-
-
Zweier, C.1
Peippo, M.M.2
Hoyer, J.3
Sousa, S.4
Bottani, A.5
Clayton-Smith, J.6
Reardon, W.7
Saraiva, J.8
Cabral, A.9
Göhring, I.10
Devriendt, K.11
de Ravel, T.12
Bijlsma, E.K.13
Hennekam, R.C.M.14
Orrico, A.15
Cohen, M.16
Dreweke, A.17
Reis, A.18
Nürnberg, P.19
Rauch, A.20
more..
-
32
-
-
33847012480
-
Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: Systematic review meta-analysis of diagnostic and false-positive yields
-
Subramonia-Iyer S, Sanderson S, Sagoo G, Higgins J, Burton H, Zimmern R, Kroese M, Brice P, Shaw-Smith C. Array-based comparative genomic hybridization for investigating chromosomal abnormalities in patients with learning disability: Systematic review meta-analysis of diagnostic and false-positive yields. Genet Med 2007;9:74-9.
-
(2007)
Genet Med
, vol.9
, pp. 74-79
-
-
Subramonia-Iyer, S.1
Sanderson, S.2
Sagoo, G.3
Higgins, J.4
Burton, H.5
Zimmern, R.6
Kroese, M.7
Brice, P.8
Shaw-Smith, C.9
-
33
-
-
9044227270
-
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
-
Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC, Antignac C. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 1996;5:367-71.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 367-371
-
-
Konrad, M.1
Saunier, S.2
Heidet, L.3
Silbermann, F.4
Benessy, F.5
Calado, J.6
Le Paslier, D.7
Broyer, M.8
Gubler, M.C.9
Antignac, C.10
-
34
-
-
33748673792
-
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase
-
Lesnik Oberstein SA, Kriek M, White SJ, Kalf ME, Szuhai K, den Dunnen JT, Breuning MH, Hennekam RC. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 2006;79:562-6.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 562-566
-
-
Lesnik Oberstein, S.A.1
Kriek, M.2
White, S.J.3
Kalf, M.E.4
Szuhai, K.5
den Dunnen, J.T.6
Breuning, M.H.7
Hennekam, R.C.8
-
35
-
-
33846562388
-
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome
-
Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, Konig R, Seemanova E, Megarbane A, Ropers HH, Ullmann R, Horn D, Mundlos S. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 2007;80:232-40.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 232-240
-
-
Klopocki, E.1
Schulze, H.2
Strauss, G.3
Ott, C.E.4
Hall, J.5
Trotier, F.6
Fleischhauer, S.7
Greenhalgh, L.8
Newbury-Ecob, R.A.9
Neumann, L.M.10
Habenicht, R.11
Konig, R.12
Seemanova, E.13
Megarbane, A.14
Ropers, H.H.15
Ullmann, R.16
Horn, D.17
Mundlos, S.18
|