-
1
-
-
0035822267
-
Chromosomal aberrations, subtelomeric defects, and mental retardation
-
Baralle D (2001) Chromosomal aberrations, subtelomeric defects, and mental retardation. Lancet 358:7-8
-
(2001)
Lancet
, vol.358
, pp. 7-8
-
-
Baralle, D.1
-
2
-
-
0036467131
-
The end of the beginning of chromosome ends
-
Biesecker LG (2002) The end of the beginning of chromosome ends. Am J Med Genet 107:263-266
-
(2002)
Am J Med Genet
, vol.107
, pp. 263-266
-
-
Biesecker, L.G.1
-
3
-
-
16944362509
-
Screening and diagnosis for the fragile X syndrome among the mentally retarded: An epidemiological and psychological survey
-
de Vries BB, van den Ouweland AM, Mohkamsing S, Duivenvoorden HJ, Mol E, Gelsema K, van Rijn M, Halley DJ, Sandkuijl LA, Oostra BA, Tibben A, Niermeijer MF, for the Collaborative Fragile X Study Group (1997) Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Am J Hum Genet 61:660-667
-
(1997)
Am J Hum Genet
, vol.61
, pp. 660-667
-
-
De Vries, B.B.1
Van Den Ouweland, A.M.2
Mohkamsing, S.3
Duivenvoorden, H.J.4
Mol, E.5
Gelsema, K.6
Van Rijn, M.7
Halley, D.J.8
Sandkuijl, L.A.9
Oostra, B.A.10
Tibben, A.11
Niermeijer, M.F.12
-
4
-
-
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 (2001) Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet 38:145-150
-
(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
-
6
-
-
0028798545
-
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
-
Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE (1995) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9:132-140
-
(1995)
Nat Genet
, vol.9
, pp. 132-140
-
-
Flint, J.1
Wilkie, A.O.2
Buckle, V.J.3
Winter, R.M.4
Holland, A.J.5
McDermid, H.E.6
-
8
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C (2004) Detection of large-scale variation in the human genome. Nat Genet 36:949-951
-
(2004)
Nat Genet
, vol.36
, 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
-
9
-
-
10744233914
-
A tiling resolution DNA microarray with complete coverage of the human genome
-
Ishkanian AS, Malloff CA, Watson SK, DeLeeuw RJ, Chi B, Coe BP, Snijders A, Albertson DG, Pinkel D, Marra MA, Ling V, MacAulay C, Lam WL (2004) A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303
-
(2004)
Nat Genet
, vol.36
, pp. 299-303
-
-
Ishkanian, A.S.1
Malloff, C.A.2
Watson, S.K.3
Deleeuw, R.J.4
Chi, B.5
Coe, B.P.6
Snijders, A.7
Albertson, D.G.8
Pinkel, D.9
Marra, M.A.10
Ling, V.11
MacAulay, C.12
Lam, W.L.13
-
10
-
-
0034279183
-
KIF5C, a novel neuronal kinesin enriched in motor neurons
-
Kanai Y, Okada Y, Tanaka Y, Harada A, Terada S, Hirokawa N (2000) KIF5C, a novel neuronal kinesin enriched in motor neurons. J Neurosci 20:6374-6384
-
(2000)
J Neurosci
, vol.20
, pp. 6374-6384
-
-
Kanai, Y.1
Okada, Y.2
Tanaka, Y.3
Harada, A.4
Terada, S.5
Hirokawa, N.6
-
11
-
-
0033552424
-
Subtle chromosomal rearrangements in children with unexplained mental retardation
-
Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J (1999) Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681
-
(1999)
Lancet
, vol.354
, pp. 1676-1681
-
-
Knight, S.J.1
Regan, R.2
Nicod, A.3
Horsley, S.W.4
Kearney, L.5
Homfray, T.6
Winter, R.M.7
Bolton, P.8
Flint, J.9
-
12
-
-
19944399746
-
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)
-
Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA (2004a) Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 41:892-899
-
(2004)
J Med Genet
, vol.41
, pp. 892-899
-
-
Koolen, D.A.1
Nillesen, W.M.2
Versteeg, M.H.3
Merkx, G.F.4
Knoers, N.V.5
Kets, M.6
Vermeer, S.7
Van Ravenswaaij, C.M.8
De Kovel, C.G.9
Brunner, H.G.10
Smeets, D.11
De Vries, B.B.12
Sistermans, E.A.13
-
13
-
-
2442681603
-
A novel microdeletion, del(2)(q22.3q23.3), in a mentally retarded patient, detected by array-based comparative genomic hybridization
-
Koolen DA, Vissers LE, Nillesen W, Smeets D, van Ravenswaaij CM, Sistermans EA, Veltman JA, de Vries BB (2004b) A novel microdeletion, del(2)(q22.3q23.3), in a mentally retarded patient, detected by array-based comparative genomic hybridization. Clin Genet 65:429-432
-
(2004)
Clin Genet
, vol.65
, pp. 429-432
-
-
Koolen, D.A.1
Vissers, L.E.2
Nillesen, W.3
Smeets, D.4
Van Ravenswaaij, C.M.5
Sistermans, E.A.6
Veltman, J.A.7
De Vries, B.B.8
-
14
-
-
3142698256
-
A set of BAC clones spanning the human genome
-
Krzywinski M, Bosdet I, Smailus D, Chiu R, Mathewson C, Wye N, Barber S, Brown-John M, Chan S, Chand S, Cloutier A, Girn N, Lee D, Masson A, Mayo M, Olson T, Pandoh P, Prabhu AL, Schoenmakers E, Tsai M, Albertson D, Lam W, Choy CO, Osoegawa K, Zhao S, de Jong PJ, Schein J, Jones S, Marra MA (2004) A set of BAC clones spanning the human genome. Nucleic Acids Res 32:3651-3660
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 3651-3660
-
-
Krzywinski, M.1
Bosdet, I.2
Smailus, D.3
Chiu, R.4
Mathewson, C.5
Wye, N.6
Barber, S.7
Brown-John, M.8
Chan, S.9
Chand, S.10
Cloutier, A.11
Girn, N.12
Lee, D.13
Masson, A.14
Mayo, M.15
Olson, T.16
Pandoh, P.17
Prabhu, A.L.18
Schoenmakers, E.19
Tsai, M.20
Albertson, D.21
Lam, W.22
Choy, C.O.23
Osoegawa, K.24
Zhao, S.25
De Jong, P.J.26
Schein, J.27
Jones, S.28
Marra, M.A.29
more..
-
15
-
-
0035514706
-
Chromosomal microdeletions: Dissecting del22q11 syndrome
-
Lindsay EA (2001) Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet 2:858-868
-
(2001)
Nat Rev Genet
, vol.2
, pp. 858-868
-
-
Lindsay, E.A.1
-
16
-
-
10744231187
-
Representational oligonucleotide microarray analysis: A high-resolution method to detect genome copy number variation
-
Lucito R, Healy J, Alexander J, Reiner A, Esposito D, Chi M, Rodgers L, Brady A, Sebat J, Troge J, West JA, Rostan S, Nguyen KC, Powers S, Ye KQ, Olshen A, Venkatraman E, Norton L, Wigler M (2003) Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res 13:2291-2305
-
(2003)
Genome Res
, vol.13
, pp. 2291-2305
-
-
Lucito, R.1
Healy, J.2
Alexander, J.3
Reiner, A.4
Esposito, D.5
Chi, M.6
Rodgers, L.7
Brady, A.8
Sebat, J.9
Troge, J.10
West, J.A.11
Rostan, S.12
Nguyen, K.C.13
Powers, S.14
Ye, K.Q.15
Olshen, A.16
Venkatraman, E.17
Norton, L.18
Wigler, M.19
-
17
-
-
0034724504
-
Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro
-
Nagase T, Kikuno R, Ishikawa K, Hirosawa M, Ohara O (2000) Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 7:143-150
-
(2000)
DNA Res
, vol.7
, pp. 143-150
-
-
Nagase, T.1
Kikuno, R.2
Ishikawa, K.3
Hirosawa, M.4
Ohara, O.5
-
18
-
-
0001798716
-
Mental retardation in South Carolina
-
Saul RA, Phelan MC (eds). Greenwood Genetic Center, Greenwood, SC
-
Phelan MC, Crawford EC, Bealer DM (1996) Mental retardation in South Carolina. In: Saul RA, Phelan MC (eds) Proceedings of the Greenwood Genetic Center. Greenwood Genetic Center, Greenwood, SC, pp 45-60
-
(1996)
Proceedings of the Greenwood Genetic Center
, pp. 45-60
-
-
Phelan, M.C.1
Crawford, E.C.2
Bealer, D.M.3
-
19
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
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 (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211
-
(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
-
20
-
-
0024610919
-
A tutorial on hidden Markov models and selected applications in speech recognition
-
Rabiner LR (1989) A tutorial on hidden Markov models and selected applications in speech recognition. Proc IEEE Inst Electr Electron Eng 77:257-286
-
(1989)
Proc IEEE Inst Electr Electron Eng
, vol.77
, pp. 257-286
-
-
Rabiner, L.R.1
-
21
-
-
12144260028
-
Cytogenetics-in color and digitized
-
Ried T (2004) Cytogenetics-in color and digitized. N Engl J Med 350:1597-1600
-
(2004)
N Engl J Med
, vol.350
, pp. 1597-1600
-
-
Ried, T.1
-
22
-
-
8044233695
-
The prevalence of mental retardation: A critical review of recent literature
-
Roeleveld N, Zielhuis GA, Gabreels F (1997) The prevalence of mental retardation: a critical review of recent literature. Dev Med Child Neurol 39:125-132
-
(1997)
Dev Med Child Neurol
, vol.39
, pp. 125-132
-
-
Roeleveld, N.1
Zielhuis, G.A.2
Gabreels, F.3
-
23
-
-
9144246375
-
Comparative study of methyl-CpG-binding domain proteins
-
Roloff TC, Ropers HH, Nuber UA (2003) Comparative study of methyl-CpG-binding domain proteins. BMC Genomics 4:1
-
(2003)
BMC Genomics
, vol.4
, pp. 1
-
-
Roloff, T.C.1
Ropers, H.H.2
Nuber, U.A.3
-
24
-
-
25444443675
-
Array-CGH detection of micro rearrangements in mentally retarded individuals: Clinical significance of imbalances present both in affected children and normal parents
-
electronically published June 24, 2005
-
Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante A, Sloos WC, Otto PA, Kriek M, Hansson K, Krepisch-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ (2005) 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 (http://jmg.bmjjournals.com/ cgi/rapidpdf/jmg.2005.032268v1) (electronically published June 24, 2005; accessed August 22, 2005)
-
(2005)
J Med Genet
-
-
Rosenberg, C.1
Knijnenburg, J.2
Bakker, E.3
Vianna-Morgante, A.4
Sloos, W.C.5
Otto, P.A.6
Kriek, M.7
Hansson, K.8
Krepisch-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
-
26
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
27
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M (2004) Large-scale copy number polymorphism in the human genome. Science 305:525-528
-
(2004)
Science
, vol.305
, 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..
-
28
-
-
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 (2004) 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 41:241-248
-
(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
-
29
-
-
0030701970
-
Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
-
Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Dohner H, Cremer T, Lichter P (1997) Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20:399-407
-
(1997)
Genes Chromosomes Cancer
, vol.20
, pp. 399-407
-
-
Solinas-Toldo, S.1
Lampel, S.2
Stilgenbauer, S.3
Nickolenko, J.4
Benner, A.5
Dohner, H.6
Cremer, T.7
Lichter, P.8
-
30
-
-
0141833983
-
Disease mechanisms in inherited neuropathies
-
Suter U, Scherer SS (2003) Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 4:714-726
-
(2003)
Nat Rev Neurosci
, vol.4
, pp. 714-726
-
-
Suter, U.1
Scherer, S.S.2
-
31
-
-
0026736251
-
Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer
-
Telenius H, Carter NP, Bebb CE, Nordenskjold M, Ponder BA, Tunnacliffe A (1992) Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics 13:718-725
-
(1992)
Genomics
, vol.13
, pp. 718-725
-
-
Telenius, H.1
Carter, N.P.2
Bebb, C.E.3
Nordenskjold, M.4
Ponder, B.A.5
Tunnacliffe, A.6
-
32
-
-
18344379676
-
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization
-
Veltman JA, Schoenmakers EF, Eussen BH, Janssen I, Merkx G, van Cleef B, van Ravenswaaij CM, Brunner HG, Smeets D, Geurts van Kessel A (2002) High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. Am J Hum Genet 70:1269-1276
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1269-1276
-
-
Veltman, J.A.1
Schoenmakers, E.F.2
Eussen, B.H.3
Janssen, I.4
Merkx, G.5
Van Cleef, B.6
Van Ravenswaaij, C.M.7
Brunner, H.G.8
Smeets, D.9
Van Geurts Kessel, A.10
-
33
-
-
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 (2004) High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation. J Med Genet 41:425-432
-
(2004)
J Med Genet
, vol.41
, pp. 425-432
-
-
Veltman, J.A.1
Yntema, H.G.2
Lugtenberg, D.3
Arts, H.4
Briault, S.5
Huys, E.H.6
Osoegawa, K.7
De Jong, P.8
Brunner, H.G.9
Van Geurts Kessel, A.10
Van Bokhoven, H.11
Schoenmakers, E.F.12
-
34
-
-
9144240478
-
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
-
Vissers LELM, de Vries BBA, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, van der Vliet W, Huys EHLPG, van Rijk A, Smeets D, van Ravenswaaij-Arts CMA, Knoers NV, van de Burgt I, de Jong PJ, Brunner HG, Geurts van Kessel A, Schoenmakers EFPM, Veltman JA (2003) Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261-1270
-
(2003)
Am J Hum Genet
, vol.73
, 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 De Burgt, I.14
De Jong, P.J.15
Brunner, H.G.16
Van Geurts Kessel, A.17
Schoenmakers, E.F.P.M.18
Veltman, J.A.19
-
35
-
-
0030941729
-
Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987
-
Yeargin-Allsopp M, Murphy CC, Cordero JF, Decoufle P, Hollowell JG (1997) Reported biomedical causes and associated medical conditions for mental retardation among 10-year-old children, metropolitan Atlanta, 1985 to 1987. Dev Med Child Neurol 39:142-149
-
(1997)
Dev Med Child Neurol
, vol.39
, pp. 142-149
-
-
Yeargin-Allsopp, M.1
Murphy, C.C.2
Cordero, J.F.3
Decoufle, P.4
Hollowell, J.G.5
-
36
-
-
0030104723
-
Weighted median filters: A tutorial
-
Yin L, Yang R (1996) Weighted median filters: a tutorial. IEEE Trans Circuits Syst 43:157-192
-
(1996)
IEEE Trans Circuits Syst
, vol.43
, pp. 157-192
-
-
Yin, L.1
Yang, R.2
|