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Results: 1 to 20 of 84

1.

Response to Benn.

Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG.

Genet Med. 2013 Apr;15(4):317-8. doi: 10.1038/gim.2013.20. No abstract available.

PMID:
23552452
[PubMed - indexed for MEDLINE]
2.

Estimates of penetrance for recurrent pathogenic copy-number variations.

Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG.

Genet Med. 2013 Jun;15(6):478-81. doi: 10.1038/gim.2012.164. Epub 2012 Dec 20.

PMID:
23258348
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Prenatal counseling and the detection of copy-number variants.

Benn PA.

Genet Med. 2013 Apr;15(4):316-7. doi: 10.1038/gim.2013.16. No abstract available.

PMID:
23552451
[PubMed - indexed for MEDLINE]
4.

Penetrance for copy number variants associated with schizophrenia.

Vassos E, Collier DA, Holden S, Patch C, Rujescu D, St Clair D, Lewis CM.

Hum Mol Genet. 2010 Sep 1;19(17):3477-81. doi: 10.1093/hmg/ddq259. Epub 2010 Jun 29.

PMID:
20587603
[PubMed - indexed for MEDLINE]
Free Article
5.

Reconstructing CNV genotypes using segregation analysis: combining pedigree information with CNV assay.

Henshall JM, Whan VA, Norris BJ.

Genet Sel Evol. 2010 Aug 12;42:34. doi: 10.1186/1297-9686-42-34.

PMID:
20701809
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity.

Ciuladaitė Z, Kasnauskienė J, Cimbalistienė L, Preikšaitienė E, Patsalis PC, Kučinskas V.

J Appl Genet. 2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z. Epub 2011 Sep 20. No abstract available.

PMID:
21931978
[PubMed - indexed for MEDLINE]
7.

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.

Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR.

Clin Genet. 2012 Jun;81(6):532-41. doi: 10.1111/j.1399-0004.2011.01716.x. Epub 2011 Jun 20.

PMID:
21623770
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The clinical context of copy number variation in the human genome.

Lee C, Scherer SW.

Expert Rev Mol Med. 2010 Mar 9;12:e8. doi: 10.1017/S1462399410001390. Review.

PMID:
20211047
[PubMed - indexed for MEDLINE]
9.

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H.

Hum Genet. 2013 Oct;132(10):1077-130. doi: 10.1007/s00439-013-1331-2. Epub 2013 Jul 3. Review.

PMID:
23820649
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Genomic copy number variations: A breakthrough in our knowledge on schizophrenia etiology?

Hosak L, Silhan P, Hosakova J.

Neuro Endocrinol Lett. 2012;33(2):183-90. Review.

PMID:
22592199
[PubMed - indexed for MEDLINE]
11.

Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

Hochstenbach R, Buizer-Voskamp JE, Vorstman JA, Ophoff RA.

Cytogenet Genome Res. 2011;135(3-4):174-202. doi: 10.1159/000332928. Epub 2011 Nov 2. Review.

PMID:
22056632
[PubMed - indexed for MEDLINE]
12.

Copy number and SNP arrays in clinical diagnostics.

Schaaf CP, Wiszniewska J, Beaudet AL.

Annu Rev Genomics Hum Genet. 2011;12:25-51. doi: 10.1146/annurev-genom-092010-110715. Review.

PMID:
21801020
[PubMed - indexed for MEDLINE]
13.

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

Willemsen MH, de Leeuw N, de Brouwer AP, Pfundt R, Hehir-Kwa JY, Yntema HG, Nillesen WM, de Vries BB, van Bokhoven H, Kleefstra T.

Eur J Med Genet. 2012 Nov;55(11):586-98. doi: 10.1016/j.ejmg.2012.05.001. Epub 2012 Jul 14.

PMID:
22796527
[PubMed - indexed for MEDLINE]
14.

Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders.

Ye T, Lipska BK, Tao R, Hyde TM, Wang L, Li C, Choi KH, Straub RE, Kleinman JE, Weinberger DR.

Biol Psychiatry. 2012 Oct 15;72(8):651-4. doi: 10.1016/j.biopsych.2012.06.014. Epub 2012 Jul 15.

PMID:
22795968
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

CNV analysis using TaqMan copy number assays.

Mayo P, Hartshorne T, Li K, McMunn-Gibson C, Spencer K, Schnetz-Boutaud N.

Curr Protoc Hum Genet. 2010 Oct;Chapter 2:Unit2.13. doi: 10.1002/0471142905.hg0213s67.

PMID:
20891030
[PubMed - indexed for MEDLINE]
16.

Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease.

Bassett AS, Scherer SW, Brzustowicz LM.

Am J Psychiatry. 2010 Aug;167(8):899-914. doi: 10.1176/appi.ajp.2009.09071016. Epub 2010 May 3. Review.

PMID:
20439386
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Integration of DNA copy number alterations and transcriptional expression analysis in human gastric cancer.

Fan B, Dachrut S, Coral H, Yuen ST, Chu KM, Law S, Zhang L, Ji J, Leung SY, Chen X.

PLoS One. 2012;7(4):e29824. doi: 10.1371/journal.pone.0029824. Epub 2012 Apr 23.

PMID:
22539939
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.

Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.

PMID:
21948486
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Gene copy-number alterations: a cost-benefit analysis.

Tang YC, Amon A.

Cell. 2013 Jan 31;152(3):394-405. doi: 10.1016/j.cell.2012.11.043. Review.

PMID:
23374337
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Implications of gene copy-number variation in health and diseases.

Almal SH, Padh H.

J Hum Genet. 2012 Jan;57(1):6-13. doi: 10.1038/jhg.2011.108. Epub 2011 Sep 29. Review.

PMID:
21956041
[PubMed - indexed for MEDLINE]
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