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Items: 1 to 20 of 39

1.

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.

Khalak HG, Wakil SM, Imtiaz F, Ramzan K, Baz B, Almostafa A, Hagos S, Alzahrani F, Abu-Dhaim N, Abu Safieh L, Al-Jbali L, Al-Hamed MS, Monies D, Aldahmesh M, Al-Dosari MS, Kaya N, Shamseldin H, Shaheen R, Al-Rashed M, Hashem M, Al-Tassan N, Meyer B, Alazami AM, Alkuraya FS.

Genet Med. 2012 May;14(5):515-9. doi: 10.1038/gim.2011.28. Epub 2012 Jan 5.

PMID:
22241088
2.

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree.

Lesch KP, Selch S, Renner TJ, Jacob C, Nguyen TT, Hahn T, Romanos M, Walitza S, Shoichet S, Dempfle A, Heine M, Boreatti-Hümmer A, Romanos J, Gross-Lesch S, Zerlaut H, Wultsch T, Heinzel S, Fassnacht M, Fallgatter A, Allolio B, Schäfer H, Warnke A, Reif A, Ropers HH, Ullmann R.

Mol Psychiatry. 2011 May;16(5):491-503. doi: 10.1038/mp.2010.29. Epub 2010 Mar 23.

PMID:
20308990
3.

High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays.

Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, Popescu GV, Cubells JF, Green R, Emanuel BS, Gerstein MB, Weissman SM, Snyder M.

Proc Natl Acad Sci U S A. 2006 Mar 21;103(12):4534-9. Epub 2006 Mar 14.

4.

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.

5.

Germline copy number variation associated with Mendelian inheritance of CLL in two families.

Brown JR, Hanna M, Tesar B, Pochet N, Vartanov A, Fernandes SM, Werner L, Ash M, Roden CA, MacConaill L, Hainz U, Longtine J, Wang YE, Correll M, Van de Peer Y, Regev A, Wu C, Neuberg D, Freedman AS.

Leukemia. 2012 Jul;26(7):1710-3. doi: 10.1038/leu.2012.33. Epub 2012 Feb 7. No abstract available.

PMID:
22382893
6.

Characterization of copy number-stable regions in the human genome.

Johansson AC, Feuk L.

Hum Mutat. 2011 Aug;32(8):947-55. doi: 10.1002/humu.21524. Epub 2011 Jul 20.

PMID:
21542059
7.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.

Gambin T, Akdemir ZC, Yuan B, Gu S, Chiang T, Carvalho CMB, Shaw C, Jhangiani S, Boone PM, Eldomery MK, Karaca E, Bayram Y, Stray-Pedersen A, Muzny D, Charng WL, Bahrambeigi V, Belmont JW, Boerwinkle E, Beaudet AL, Gibbs RA, Lupski JR.

Nucleic Acids Res. 2017 Feb 28;45(4):1633-1648. doi: 10.1093/nar/gkw1237.

8.

Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.

Locke DP, Sharp AJ, McCarroll SA, McGrath SD, Newman TL, Cheng Z, Schwartz S, Albertson DG, Pinkel D, Altshuler DM, Eichler EE.

Am J Hum Genet. 2006 Aug;79(2):275-90. Epub 2006 Jun 15.

9.

Genome-wide analysis of DNA copy-number changes using cDNA microarrays.

Pollack JR, Perou CM, Alizadeh AA, Eisen MB, Pergamenschikov A, Williams CF, Jeffrey SS, Botstein D, Brown PO.

Nat Genet. 1999 Sep;23(1):41-6.

PMID:
10471496
10.

Integrative genome-wide analysis reveals a robust genomic glioblastoma signature associated with copy number driving changes in gene expression.

de Tayrac M, Etcheverry A, Aubry M, Saïkali S, Hamlat A, Quillien V, Le Treut A, Galibert MD, Mosser J.

Genes Chromosomes Cancer. 2009 Jan;48(1):55-68. doi: 10.1002/gcc.20618.

11.

Accurate detection of aneuploidies in array CGH and gene expression microarray data.

Myers CL, Dunham MJ, Kung SY, Troyanskaya OG.

Bioinformatics. 2004 Dec 12;20(18):3533-43. Epub 2004 Jul 29.

PMID:
15284100
12.

A first comparative map of copy number variations in the sheep genome.

Fontanesi L, Beretti F, Martelli PL, Colombo M, Dall'olio S, Occidente M, Portolano B, Casadio R, Matassino D, Russo V.

Genomics. 2011 Mar;97(3):158-65. doi: 10.1016/j.ygeno.2010.11.005. Epub 2010 Nov 24.

13.

Detection of copy number alterations in acute myeloid leukemia and myelodysplastic syndromes.

Jacoby MA, Walter MJ.

Expert Rev Mol Diagn. 2012 Apr;12(3):253-64. doi: 10.1586/erm.12.18. Review.

PMID:
22468816
14.

A genome wide association study between copy number variation (CNV) and human height in Chinese population.

Li X, Tan L, Liu X, Lei S, Yang T, Chen X, Zhang F, Fang Y, Guo Y, Zhang L, Yan H, Pan F, Zhang Z, Peng Y, Zhou Q, He L, Zhu X, Cheng J, Zhang L, Liu Y, Tian Q, Deng H.

J Genet Genomics. 2010 Dec;37(12):779-85. doi: 10.1016/S1673-8527(09)60095-3.

PMID:
21193156
15.

[Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0].

Ma F, Wu FX, Li N, Liu Q, Yang W, Zhang X, Sun M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Jun;26(3):336-9. doi: 10.3760/cma.j.issn.1003-9406.2009.03.022. Chinese.

PMID:
19504452
16.

Comprehensive DNA copy number profile and BAC library construction of an Indian individual.

Chakrabarty S, D'Souza RR, Bellampalli R, Rotti H, Saadi AV, Gopinath PM, Acharya RV, Govindaraj P, Thangaraj K, Satyamoorthy K.

Gene. 2012 Jun 1;500(2):186-93. doi: 10.1016/j.gene.2012.03.054. Epub 2012 Mar 21.

PMID:
22465536
17.

Analysis of copy number variants in the cattle genome.

Kijas JW, Barendse W, Barris W, Harrison B, McCulloch R, McWilliam S, Whan V.

Gene. 2011 Aug 15;482(1-2):73-7. doi: 10.1016/j.gene.2011.04.011. Epub 2011 May 18.

PMID:
21620936
18.

Accurate and reliable high-throughput detection of copy number variation in the human genome.

Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, Clark R, Dovey O, Ellis P, Feuk L, French L, Hunt P, Kalaitzopoulos D, Larkin J, Montgomery L, Perry GH, Plumb BW, Porter K, Rigby RE, Rigler D, Valsesia A, Langford C, Humphray SJ, Scherer SW, Lee C, Hurles ME, Carter NP.

Genome Res. 2006 Dec;16(12):1566-74. Epub 2006 Nov 22.

19.

DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets.

Mantripragada KK, Tapia-Páez I, Blennow E, Nilsson P, Wedell A, Dumanski JP.

Int J Mol Med. 2004 Feb;13(2):273-9.

PMID:
14719134
20.

Large-scale copy number polymorphism in the human genome.

Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Månér 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.

Science. 2004 Jul 23;305(5683):525-8.

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