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Results: 1 to 20 of 99

1.

Incidental copy-number variants identified by routine genome testing in a clinical population.

Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR.

Genet Med. 2013 Jan;15(1):45-54. doi: 10.1038/gim.2012.95. Epub 2012 Aug 9.

PMID:
22878507
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

Sahoo T, Theisen A, Rosenfeld JA, Lamb AN, Ravnan JB, Schultz RA, Torchia BS, Neill N, Casci I, Bejjani BA, Shaffer LG.

Genet Med. 2011 Oct;13(10):868-80. doi: 10.1097/GIM.0b013e3182217a06.

PMID:
21792059
[PubMed - indexed for MEDLINE]
3.

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE.

Am J Hum Genet. 2011 Mar 11;88(3):273-82. doi: 10.1016/j.ajhg.2011.01.016. Epub 2011 Feb 25.

PMID:
21353195
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR.

Genome Res. 2013 Sep;23(9):1383-94. doi: 10.1101/gr.156075.113. Epub 2013 May 16.

PMID:
23685542
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Support for the N-methyl-D-aspartate receptor hypofunction hypothesis of schizophrenia from exome sequencing in multiplex families.

Timms AE, Dorschner MO, Wechsler J, Choi KY, Kirkwood R, Girirajan S, Baker C, Eichler EE, Korvatska O, Roche KW, Horwitz MS, Tsuang DW.

JAMA Psychiatry. 2013 Jun;70(6):582-90. doi: 10.1001/jamapsychiatry.2013.1195.

PMID:
23553203
[PubMed - indexed for MEDLINE]
6.

Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci.

Berg M, Agesen TH, Thiis-Evensen E; INFAC-study group, Merok MA, Teixeira MR, Vatn MH, Nesbakken A, Skotheim RI, Lothe RA.

Mol Cancer. 2010 May 6;9:100. doi: 10.1186/1476-4598-9-100.

PMID:
20459617
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma.

Liu Y, Whigham BT, Wheeler J, Williams SE, Rautenbach RM, Ziskind A, Ramsay M, Carmichael TR, Ashley-Koch AE, Allingham RR, Hauser MA.

Mol Vis. 2012;18:2976-81. Epub 2012 Dec 14.

PMID:
23288989
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome.

Przybytkowski E, Ferrario C, Basik M.

BMC Med Genomics. 2011 Jan 27;4:16. doi: 10.1186/1755-8794-4-16.

PMID:
21272361
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.

Laffin JJ, Raca G, Jackson CA, Strand EA, Jakielski KJ, Shriberg LD.

Genet Med. 2012 Nov;14(11):928-36. doi: 10.1038/gim.2012.72. Epub 2012 Jul 5. Erratum in: Genet Med. 2013 Jul;15(7):587-8.

PMID:
22766611
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Germline DNA copy number variation in familial and early-onset breast cancer.

Krepischi AC, Achatz MI, Santos EM, Costa SS, Lisboa BC, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C.

Breast Cancer Res. 2012 Feb 7;14(1):R24.

PMID:
22314128
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients.

Venkatachalam R, Verwiel ET, Kamping EJ, Hoenselaar E, Görgens H, Schackert HK, van Krieken JH, Ligtenberg MJ, Hoogerbrugge N, van Kessel AG, Kuiper RP.

Int J Cancer. 2011 Oct 1;129(7):1635-42. doi: 10.1002/ijc.25821. Epub 2011 Apr 4.

PMID:
21128281
[PubMed - indexed for MEDLINE]
12.

Olfactory copy number association with age at onset of Alzheimer disease.

Shaw CA, Li Y, Wiszniewska J, Chasse S, Zaidi SN, Jin W, Dawson B, Wilhelmsen K, Lupski JR, Belmont JW, Doody RS, Szigeti K.

Neurology. 2011 Apr 12;76(15):1302-9. doi: 10.1212/WNL.0b013e3182166df5. Erratum in: Neurology. 2011 May 31;76(22):1945.

PMID:
21482944
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

A genome-wide screen for copy number alterations in Aicardi syndrome.

Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB.

Am J Med Genet A. 2009 Oct;149A(10):2113-21. doi: 10.1002/ajmg.a.32976.

PMID:
19760649
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Systematic inference of copy-number genotypes from personal genome sequencing data reveals extensive olfactory receptor gene content diversity.

Waszak SM, Hasin Y, Zichner T, Olender T, Keydar I, Khen M, Stütz AM, Schlattl A, Lancet D, Korbel JO.

PLoS Comput Biol. 2010 Nov 11;6(11):e1000988. doi: 10.1371/journal.pcbi.1000988.

PMID:
21085617
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Interpretation of copy number alterations identified through clinical microarray-comparative genomic hybridization.

Pyatt RE, Astbury C.

Clin Lab Med. 2011 Dec;31(4):565-80, viii. doi: 10.1016/j.cll.2011.08.007. Review.

PMID:
22118737
[PubMed - indexed for MEDLINE]
16.

DNA copy number variations at chromosome 7p14.1 and chromosome 14q11.2 are associated with dupuytren's disease: potential role for MMP and Wnt signaling pathway.

Shih B, Tassabehji M, Watson JS, Bayat A.

Plast Reconstr Surg. 2012 Apr;129(4):921-32. doi: 10.1097/PRS.0b013e3182442343.

PMID:
22183494
[PubMed - indexed for MEDLINE]
17.

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL.

Am J Hum Genet. 2010 Aug 13;87(2):173-88. doi: 10.1016/j.ajhg.2010.06.017. Epub 2010 Jul 22.

PMID:
20655035
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Detection of recurrent rearrangement breakpoints from copy number data.

Ritz A, Paris PL, Ittmann MM, Collins C, Raphael BJ.

BMC Bioinformatics. 2011 Apr 21;12:114. doi: 10.1186/1471-2105-12-114.

PMID:
21510904
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Array-comparative genomic hybridization reveals loss of SOCS6 is associated with poor prognosis in primary lung squamous cell carcinoma.

Sriram KB, Larsen JE, Savarimuthu Francis SM, Wright CM, Clarke BE, Duhig EE, Brown KM, Hayward NK, Yang IA, Bowman RV, Fong KM.

PLoS One. 2012;7(2):e30398. doi: 10.1371/journal.pone.0030398. Epub 2012 Feb 17.

PMID:
22363434
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism.

Gau SS, Liao HM, Hong CC, Chien WH, Chen CH.

Am J Med Genet B Neuropsychiatr Genet. 2012 Sep;159B(6):710-7. doi: 10.1002/ajmg.b.32074. Epub 2012 Jul 9.

PMID:
22778016
[PubMed - indexed for MEDLINE]

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