-
1
-
-
34249680839
-
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
-
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: 182-192.
-
(2007)
Curr Opin Genet Dev
, vol.17
, pp. 182-192
-
-
Stankiewicz, P.1
Beaudet, A.L.2
-
2
-
-
38149038032
-
Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives
-
Darilek S, Ward P, Pursley A et al. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet Med 2008: 10: 13-18.
-
(2008)
Genet Med
, vol.10
, pp. 13-18
-
-
Darilek, S.1
Ward, P.2
Pursley, A.3
-
3
-
-
28644446258
-
American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
-
Shaffer LG. American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation. Genet Med 2005: 7: 650-654.
-
(2005)
Genet Med
, vol.7
, pp. 650-654
-
-
Shaffer, L.G.1
-
4
-
-
33749465589
-
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
-
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: 2063-2074.
-
(2006)
Am J Med Genet
, vol.140
, pp. 2063-2074
-
-
Rauch, A.1
Hoyer, J.2
Guth, S.3
-
5
-
-
12744278217
-
Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness
-
van Karnebeek CD, Jansweijer MC, Leenders AG et al. 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
-
6
-
-
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 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: 625-633.
-
(2006)
J Med Genet
, vol.43
, pp. 625-633
-
-
Menten, B.1
Maas, N.2
Thienpont, B.3
-
7
-
-
36348975713
-
The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future
-
Shaffer LG, Bejjani BA, Torchia B et al. 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: 145C: 335-345.
-
(2007)
Am J Med Genet C Semin Med Genet
, vol.145 C
, pp. 335-345
-
-
Shaffer, L.G.1
Bejjani, B.A.2
Torchia, B.3
-
8
-
-
63449115513
-
Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects
-
Sagoo GS, Butterworth AS, Sanderson S et al. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13, 926 subjects. Genet Med 2009: 11: 139-146.
-
(2009)
Genet Med
, vol.11
, pp. 139-146
-
-
Sagoo, G.S.1
Butterworth, A.S.2
Sanderson, S.3
-
9
-
-
44249121777
-
Novel microdeletion syndromes detected by chromosome microarrays
-
Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet 2008: 124: 1-17.
-
(2008)
Hum Genet
, vol.124
, pp. 1-17
-
-
Slavotinek, A.M.1
-
10
-
-
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-S54.
-
(2007)
Nat Genet
, vol.39
-
-
Lee, C.1
Iafrate, A.J.2
Brothman, A.R.3
-
11
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR et al. Global variation in copy number in the human genome. Nature 2006: 444: 444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
-
12
-
-
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 et al. 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
-
13
-
-
25144519604
-
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb.
-
Schoumans J, Staaf J, Jonsson G et al. Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb. Eur J Med Genet 2005: 48: 290-300.
-
(2005)
Eur J Med Genet
, vol.48
, pp. 290-300
-
-
Schoumans, J.1
Staaf, J.2
Jonsson, G.3
-
14
-
-
45749121948
-
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
-
Zhang ZF, Ruivenkamp C, Staaf J et al. Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms. Eur J Hum Genet 2008: 16: 786-792.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 786-792
-
-
Zhang, Z.F.1
Ruivenkamp, C.2
Staaf, J.3
-
15
-
-
68949097477
-
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
-
Bremer A, Schoumans J, Nordenskjold M et al. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities. Eur J Med Genet 2009: 52: 358-362.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 358-362
-
-
Bremer, A.1
Schoumans, J.2
Nordenskjold, M.3
-
16
-
-
34247479418
-
High-resolution genomic profiles of breast cancer cell lines assessed by tiling BAC array comparative genomic hybridization
-
Jonsson G, Staaf J, Olsson E et al. High-resolution genomic profiles of breast cancer cell lines assessed by tiling BAC array comparative genomic hybridization. Genes Chromosomes Cancer 2007: 46: 543-558.
-
(2007)
Genes Chromosomes Cancer
, vol.46
, pp. 543-558
-
-
Jonsson, G.1
Staaf, J.2
Olsson, E.3
-
17
-
-
33750036969
-
Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2.
-
Schoumans J, Johansson B, Corcoran M et al. Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2. Br J Haematol 2006: 135: 492-499.
-
(2006)
Br J Haematol
, vol.135
, pp. 492-499
-
-
Schoumans, J.1
Johansson, B.2
Corcoran, M.3
-
18
-
-
0037099005
-
BioArray Software Environment (BASE): a platform for comprehensive management and analysis of microarray data
-
SOFTWARE0003.
-
Saal LH, Troein C, Vallon-Christersson J et al. BioArray Software Environment (BASE): a platform for comprehensive management and analysis of microarray data. Genome Biol 2002: 3: SOFTWARE0003.
-
(2002)
Genome Biol
, vol.3
-
-
Saal, L.H.1
Troein, C.2
Vallon-Christersson, J.3
-
19
-
-
12344259648
-
Analysis of array CGH data: from signal ratio to gain and loss of DNA regions
-
Hupe P, Stransky N, Thiery JP et al. Analysis of array CGH data: from signal ratio to gain and loss of DNA regions. Bioinformatics 2004: 20: 3413-3422.
-
(2004)
Bioinformatics
, vol.20
, pp. 3413-3422
-
-
Hupe, P.1
Stransky, N.2
Thiery, J.P.3
-
20
-
-
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 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: 1124-1132.
-
(2007)
Hum Mutat
, vol.28
, pp. 1124-1132
-
-
Fan, Y.S.1
Jayakar, P.2
Zhu, H.3
-
21
-
-
34547728253
-
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
-
Barbaro M, Oscarson M, Schoumans J et al. Isolated 46, XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab 2007: 92: 3305-3313.
-
(2007)
J Clin Endocrinol Metab
, vol.92
, pp. 3305-3313
-
-
Barbaro, M.1
Oscarson, M.2
Schoumans, J.3
-
22
-
-
39449121016
-
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy
-
Friedman JI, Vrijenhoek T, Markx S et al. CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. Mol Psychiatry 2008: 13: 261-266.
-
(2008)
Mol Psychiatry
, vol.13
, pp. 261-266
-
-
Friedman, J.I.1
Vrijenhoek, T.2
Markx, S.3
-
23
-
-
76549104658
-
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder
-
Poot M, Beyer V, Schwaab I et al. Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 2009: 11 (1): 81-89.
-
(2009)
Neurogenetics
, vol.11
, Issue.1
, pp. 81-89
-
-
Poot, M.1
Beyer, V.2
Schwaab, I.3
-
24
-
-
34249722774
-
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
-
Belloso JM, Bache I, Guitart M et al. Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet 2007: 15: 711-713.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 711-713
-
-
Belloso, J.M.1
Bache, I.2
Guitart, M.3
-
25
-
-
33645415686
-
Recessive symptomatic focal epilepsy and mutant contact in-associated protein-like 2
-
Strauss KA, Puffenberger EG, Huentelman MJ et al. Recessive symptomatic focal epilepsy and mutant contact in-associated protein-like 2. N Engl J Med 2006: 354: 1370-1377.
-
(2006)
N Engl J Med
, vol.354
, pp. 1370-1377
-
-
Strauss, K.A.1
Puffenberger, E.G.2
Huentelman, M.J.3
-
26
-
-
34447278070
-
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
-
Ullmann R, Turner G, Kirchhoff M et al. Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum Mutat 2007: 28: 674-682.
-
(2007)
Hum Mutat
, vol.28
, pp. 674-682
-
-
Ullmann, R.1
Turner, G.2
Kirchhoff, M.3
-
27
-
-
74249088463
-
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
-
de Kovel CG, Trucks H, Helbig I et al. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain 2010: 133: 23-32.
-
(2010)
Brain
, vol.133
, pp. 23-32
-
-
de Kovel, C.G.1
Trucks, H.2
Helbig, I.3
-
28
-
-
69749104320
-
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
-
Mefford HC, Cooper GM, Zerr T et al. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res 2009: 19: 1579-1585.
-
(2009)
Genome Res
, vol.19
, pp. 1579-1585
-
-
Mefford, H.C.1
Cooper, G.M.2
Zerr, T.3
-
29
-
-
65949097704
-
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
-
Hannes FD, Sharp AJ, Mefford HC et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet 2009: 46: 223-232.
-
(2009)
J Med Genet
, vol.46
, pp. 223-232
-
-
Hannes, F.D.1
Sharp, A.J.2
Mefford, H.C.3
-
30
-
-
64549106899
-
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
-
Coppinger J, McDonald-McGinn D, Zackai E et al. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet 2009: 18: 1377-1383.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1377-1383
-
-
Coppinger, J.1
McDonald-McGinn, D.2
Zackai, E.3
-
31
-
-
57149093239
-
Distal 22q11.2 microduplication encompassing the BCR gene.
-
Descartes M, Franklin J, de Stahl TD et al. Distal 22q11.2 microduplication encompassing the BCR gene. Am J Med Genet 2008: 146A: 3075-3081.
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 3075-3081
-
-
Descartes, M.1
Franklin, J.2
de Stahl, T.D.3
|