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Items: 9

1.

Population analysis of large copy number variants and hotspots of human genetic disease.

Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE.

Am J Hum Genet. 2009 Feb;84(2):148-61. doi: 10.1016/j.ajhg.2008.12.014. Epub 2009 Jan 22.

2.

Copy-number variation and association studies of human disease.

McCarroll SA, Altshuler DM.

Nat Genet. 2007 Jul;39(7 Suppl):S37-42. Review.

PMID:
17597780
3.

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability.

Beckmann JS, Estivill X, Antonarakis SE.

Nat Rev Genet. 2007 Aug;8(8):639-46. Review.

PMID:
17637735
4.

Copy number variants (CNVs) in primate species using array-based comparative genomic hybridization.

Gökçümen O, Lee C.

Methods. 2009 Sep;49(1):18-25. doi: 10.1016/j.ymeth.2009.06.001. Epub 2009 Jun 21. Review.

5.

Copy number variations and human genetic disease.

Mikhail FM.

Curr Opin Pediatr. 2014 Dec;26(6):646-52. doi: 10.1097/MOP.0000000000000142. Review.

PMID:
25198053
6.

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

Rodriguez-Revenga L, Mila M, Rosenberg C, Lamb A, Lee C.

Genet Med. 2007 Sep;9(9):600-6. Review.

PMID:
17873648
7.

Large-scale copy number variants (CNVs) detected in different ethnic human populations.

Takahashi N, Satoh Y, Kodaira M, Katayama H.

Cytogenet Genome Res. 2008;123(1-4):224-33. doi: 10.1159/000184712. Epub 2009 Mar 11. Review.

PMID:
19287159
8.

Copy-number variation in control population cohorts.

Pinto D, Marshall C, Feuk L, Scherer SW.

Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R168-73. Review. Erratum in: Hum Mol Genet. 2008 Feb 1;17(3):166-7.

PMID:
17911159
9.

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.

Lee C, Iafrate AJ, Brothman AR.

Nat Genet. 2007 Jul;39(7 Suppl):S48-54. Review.

PMID:
17597782

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