-
1
-
-
0030862260
-
-
American College of Medical Genetics. Am J Med Genet
-
Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am J Med Genet 1997;72:468-77.
-
(1997)
Evaluation of mental retardation: Recommendations of a Consensus Conference
, vol.72
, pp. 468-477
-
-
Curry, C.J.1
Stevenson, R.E.2
Aughton, D.3
Byrne, J.4
Carey, J.C.5
Cassidy, S.6
-
2
-
-
33749465589
-
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
-
Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 2006;140:2063-74.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2063-2074
-
-
Rauch, A.1
Hoyer, J.2
Guth, S.3
Zweier, C.4
Kraus, C.5
Becker, C.6
-
3
-
-
0023640087
-
Review of recent epidemiological studies of mental retardation: Prevalence, associated disorders, and etiology
-
McLaren J, Bryson SE. Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. Am J Ment Retard 1987;92:243-54.
-
(1987)
Am J Ment Retard
, vol.92
, pp. 243-254
-
-
McLaren, J.1
Bryson, S.E.2
-
4
-
-
34447279906
-
Genetik der mentalen Retardierung.
-
Tzschach A, Ropers H-H. Genetik der mentalen Retardierung. Dtsch Ärztebl 2007;104:1400-5.
-
(2007)
Dtsch Ärztebl
, vol.104
, pp. 1400-1405
-
-
Tzschach, A.1
Ropers, H.-H.2
-
5
-
-
23944450590
-
Genetische Diagnostik bei mentaler Retardierung.
-
Rost I, Klein H-G. Genetische Diagnostik bei mentaler Retardierung. J Lab Med 2005;29:152-61.
-
(2005)
J Lab Med
, vol.29
, pp. 152-161
-
-
Rost, I.1
Klein, H.-G.2
-
6
-
-
12744278217
-
Diagnostic investigations in individuals with mental retardation: A systematic literature review of their usefulness
-
Van Karnebeek CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 2005;13:6-25.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 6-25
-
-
Van Karnebeek, C.D.1
Jansweijer, M.C.2
Leenders, A.G.3
Offringa, M.4
Hennekam, R.C.5
-
7
-
-
33745226965
-
Subtelomere FISH analysis of 11688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
-
Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, et al. Subtelomere FISH analysis of 11688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 2006;43:478-89.
-
(2006)
J Med Genet
, vol.43
, pp. 478-489
-
-
Ravnan, J.B.1
Tepperberg, J.H.2
Papenhausen, P.3
Lamb, A.N.4
Hedrick, J.5
Eash, D.6
-
8
-
-
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;13:310-6.
-
(2003)
Curr Opin Genet Dev
, vol.13
, pp. 310-316
-
-
Flint, J.1
Knight, S.2
-
9
-
-
0035083998
-
Clinical studies on submicroscopic subtelomeric rearrangements: A checklist
-
de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, et al. 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
-
10
-
-
0030701970
-
Matrix-based comparative genomic hybridization: Biochips to screen for genomic imbalances
-
Solinas-Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, et al. Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 1997;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
Döhner, H.6
-
11
-
-
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, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998;20:207-11.
-
(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
-
12
-
-
0026495364
-
Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
-
Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992;258:818-21.
-
(1992)
Science
, vol.258
, pp. 818-821
-
-
Kallioniemi, A.1
Kallioniemi, O.P.2
Sudar, D.3
Rutovitz, D.4
Gray, J.W.5
Waldman, F.6
-
13
-
-
35649021296
-
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization
-
Fan YS, Jayakar P, Zhu H, Barbouth D, Sacharow S, Morales A, et al. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat 2007;28:1124-32.
-
(2007)
Hum Mutat
, vol.28
, pp. 1124-1132
-
-
Fan, Y.S.1
Jayakar, P.2
Zhu, H.3
Barbouth, D.4
Sacharow, S.5
Morales, A.6
-
14
-
-
34249717942
-
Clinical implementation of chromosomal microarray analysis: Summary of 2513 postnatal cases
-
Lu XL, Shaw CA, Patel A, Li J, Cooper ML, Wells WR, et al. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE 2 2007;2:e327.
-
(2007)
PLoS ONE
, vol.2
, Issue.2
-
-
Lu, X.L.1
Shaw, C.A.2
Patel, A.3
Li, J.4
Cooper, M.L.5
Wells, W.R.6
-
15
-
-
25444432040
-
Diagnostic genome profiling in mental retardation
-
de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, et al. 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
-
16
-
-
55249110136
-
Validation of BAC-array CGH using a different array platform
-
Heinrich U, Locher M, Hinrichsen T, Sendelbach K, Polten A, Rost I. Validation of BAC-array CGH using a different array platform. Eur J Hum Genet 2008;16(Suppl 2):125.
-
(2008)
Eur J Hum Genet
, vol.16
, Issue.SUPPL. 2
, pp. 125
-
-
Heinrich, U.1
Locher, M.2
Hinrichsen, T.3
Sendelbach, K.4
Polten, A.5
Rost, I.6
-
17
-
-
3242808027
-
Large-scale copy number polymorphism in the human genome
-
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, et al. Large-scale copy number polymorphism in the human genome. Science 2004;305:525-8.
-
(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
-
18
-
-
4444291843
-
Detection of large-scale variation in the human genome
-
Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, et al. Detection of large-scale variation in the human genome. Nat Genet 2004;36:949-51.
-
(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
-
19
-
-
34347361618
-
Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
-
Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 2007;39:S48-54.
-
(2007)
Nat Genet
, vol.39
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
-
20
-
-
35448992970
-
Germ-line DNA copy number variation frequencies in a large North American population
-
Zogopoulos G, Ha KCH, Naqib F, Moore S, Kim H, Montpetit A, et al. Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet 2007;122:345-53.
-
(2007)
Hum Genet
, vol.122
, pp. 345-353
-
-
Zogopoulos, G.1
Ha, K.C.H.2
Naqib, F.3
Moore, S.4
Kim, H.5
Montpetit, A.6
-
21
-
-
34848823144
-
An innocuous duplication of 11.2 Mb at 13q21 is gene poor: Sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies
-
Daniel A, Darmanian A, Peters G, Goodwin L, Hort JR. An innocuous duplication of 11.2 Mb at 13q21 is gene poor: sub-bands of gene paucity and pervasive CNV characterize the chromosome anomalies. Am J Med Genet A 2007;143A:2452-9.
-
(2007)
Am J Med Genet A
, vol.143 A
, pp. 2452-2459
-
-
Daniel, A.1
Darmanian, A.2
Peters, G.3
Goodwin, L.4
Hort, J.R.5
-
22
-
-
23744487028
-
Directly transmitted unabalanced chromosome abnormalities and euchromatic variants
-
Barber JC. Directly transmitted unabalanced chromosome abnormalities and euchromatic variants. J Med Genet 2005;42:609-29.
-
(2005)
J Med Genet
, vol.42
, pp. 609-629
-
-
Barber, J.C.1
-
24
-
-
33748333194
-
Discovery of previously unidentified genomic disorders from duplication architecture of the human genome
-
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, et al. Discovery of previously unidentified genomic disorders from 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
-
25
-
-
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, et al. 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
-
26
-
-
33748323156
-
A new chromosome 17q21.31 microdeletion syndrome associated with a comman inversion polymorphism
-
Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, et al. A new chromosome 17q21.31 microdeletion syndrome associated with a comman 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
-
27
-
-
20544435269
-
3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome
-
Willat L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet 2005;77:154-60.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 154-160
-
-
Willat, L.1
Cox, J.2
Barber, J.3
Cabanas, E.D.4
Collins, A.5
Donnai, D.6
-
28
-
-
0033987366
-
Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith-Magenis microdeletion
-
Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, et al. Molecular mechanism for duplication 17p11.2 - the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-7.
-
(2000)
Nat Genet
, vol.24
, pp. 84-87
-
-
Potocki, L.1
Chen, K.S.2
Park, S.S.3
Osterholm, D.E.4
Withers, M.A.5
Kimonis, V.6
-
29
-
-
27544490144
-
Reciprocal translocations: A trap for cytogeneticists?
-
Ciccone R, Giorda R, Gregato G, Guerrini R, Giglio S, Carrozzo R, et al. Reciprocal translocations: a trap for cytogeneticists? Hum Genet 2005;117:571-82.
-
(2005)
Hum Genet
, vol.117
, pp. 571-582
-
-
Ciccone, R.1
Giorda, R.2
Gregato, G.3
Guerrini, R.4
Giglio, S.5
Carrozzo, R.6
-
30
-
-
19944432367
-
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
-
Gribble SM, Prigmore E, Burford DC, Porter KM, Bee Ling Ng, Douglas EJ, et al. The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet 2006;42:8-16.
-
(2006)
J Med Genet
, vol.42
, pp. 8-16
-
-
Gribble, S.M.1
Prigmore, E.2
Burford, D.C.3
Porter, K.M.4
Ling Ng, B.5
Douglas, E.J.6
-
31
-
-
37249022297
-
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: A study of 59 patients
-
De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, et al. Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet 2007;44:750-62.
-
(2007)
J Med Genet
, vol.44
, pp. 750-762
-
-
De Gregori, M.1
Ciccone, R.2
Magini, P.3
Pramparo, T.4
Gimelli, S.5
Messa, J.6
|