Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 74

1.

Structural variation and its effect on expression.

Harewood L, Chaignat E, Reymond A.

Methods Mol Biol. 2012;838:173-86. doi: 10.1007/978-1-61779-507-7_8.

PMID:
22228012
2.

Human genome variation in health and in neuropsychiatric disorders.

Buretić-Tomljanović A, Tomljanović D.

Psychiatr Danub. 2009 Dec;21(4):562-9. Review.

3.

Cis-regulatory variations: a study of SNPs around genes showing cis-linkage in segregating mouse populations.

GuhaThakurta D, Xie T, Anand M, Edwards SW, Li G, Wang SS, Schadt EE.

BMC Genomics. 2006 Sep 15;7:235.

4.

Major changes in our DNA lead to major changes in our thinking.

Sebat J.

Nat Genet. 2007 Jul;39(7 Suppl):S3-5. Review.

PMID:
17597778
5.

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
6.

Genome structural variation and sporadic disease traits.

Lupski JR.

Nat Genet. 2006 Sep;38(9):974-6. No abstract available.

PMID:
16941003
7.

[Structural variation in the human genome contributes to variation of traits].

Barøy T, Misceo D, Frengen E.

Tidsskr Nor Laegeforen. 2008 Sep 11;128(17):1951-5. Review. Norwegian.

8.

Cis-acting regulatory variation in the human genome.

Pastinen T, Hudson TJ.

Science. 2004 Oct 22;306(5696):647-50. Review.

PMID:
15499010
9.

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.

10.

Genetic and epigenetic dissection of cis regulatory variation.

Zhang X, Richards EJ, Borevitz JO.

Curr Opin Plant Biol. 2007 Apr;10(2):142-8. Epub 2007 Feb 14. Review.

PMID:
17300985
11.

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.

12.

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
13.

Charcot-Marie-Tooth disease and related inherited neuropathies.

Murakami T, Garcia CA, Reiter LT, Lupski JR.

Medicine (Baltimore). 1996 Sep;75(5):233-50. Review.

14.

Copy-number variations, noncoding sequences, and human phenotypes.

Klopocki E, Mundlos S.

Annu Rev Genomics Hum Genet. 2011;12:53-72. doi: 10.1146/annurev-genom-082410-101404. Review.

PMID:
21756107
15.

Structural variants deconstruct the genome.

[No authors listed]

Nat Genet. 2006 Sep;38(9):959.

PMID:
16940994
16.

Genomic copy number variation, human health, and disease.

Wain LV, Armour JA, Tobin MD.

Lancet. 2009 Jul 25;374(9686):340-50. doi: 10.1016/S0140-6736(09)60249-X. Epub 2009 Jun 15. Review.

PMID:
19535135
17.

Evolutionary coupling between the deleteriousness of gene mutations and the amount of non-coding sequences.

Knibbe C, Mazet O, Chaudier F, Fayard JM, Beslon G.

J Theor Biol. 2007 Feb 21;244(4):621-30. Epub 2006 Sep 12.

PMID:
17055537
18.

High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes.

Groth M, Szafranski K, Taudien S, Huse K, Mueller O, Rosenstiel P, Nygren AO, Schreiber S, Birkenmeier G, Platzer M.

Hum Mutat. 2008 Oct;29(10):1247-54. doi: 10.1002/humu.20751.

PMID:
18470942
19.

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array.

Díaz de Ståhl T, Sandgren J, Piotrowski A, Nord H, Andersson R, Menzel U, Bogdan A, Thuresson AC, Poplawski A, von Tell D, Hansson CM, Elshafie AI, Elghazali G, Imreh S, Nordenskjöld M, Upadhyaya M, Komorowski J, Bruder CE, Dumanski JP.

Hum Mutat. 2008 Mar;29(3):398-408.

PMID:
18058796
20.

Structural variants: changing the landscape of chromosomes and design of disease studies.

Feuk L, Marshall CR, Wintle RF, Scherer SW.

Hum Mol Genet. 2006 Apr 15;15 Spec No 1:R57-66. Review.

PMID:
16651370

Supplemental Content

Support Center