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Items: 1 to 20 of 38

1.

Molecular mechanisms for genomic disorders.

Inoue K, Lupski JR.

Annu Rev Genomics Hum Genet. 2002;3:199-242. Epub 2002 Apr 15. Review.

PMID:
12142364
2.

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

Lupski JR, Stankiewicz P.

PLoS Genet. 2005 Dec;1(6):e49. Review.

3.

The genomic basis of disease, mechanisms and assays for genomic disorders.

Stankiewicz P, Lupski JR.

Genome Dyn. 2006;1:1-16. doi: 10.1159/000092496. Review.

PMID:
18724050
4.

Genome architecture, rearrangements and genomic disorders.

Stankiewicz P, Lupski JR.

Trends Genet. 2002 Feb;18(2):74-82. Review.

PMID:
11818139
5.

Molecular-evolutionary mechanisms for genomic disorders.

Stankiewicz P, Lupski JR.

Curr Opin Genet Dev. 2002 Jun;12(3):312-9. Review.

PMID:
12076675
7.

Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease.

Shaw CJ, Lupski JR.

Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R57-64. Epub 2004 Feb 5. Review.

8.
9.

Genomic rearrangements in inherited disease and cancer.

Chen JM, Cooper DN, FĂ©rec C, Kehrer-Sawatzki H, Patrinos GP.

Semin Cancer Biol. 2010 Aug;20(4):222-33. doi: 10.1016/j.semcancer.2010.05.007. Epub 2010 Jun 9. Review.

PMID:
20541013
10.

Genomic disorders on 22q11.

McDermid HE, Morrow BE.

Am J Hum Genet. 2002 May;70(5):1077-88. Epub 2002 Mar 29. Review.

11.

Structure of chromosomal duplicons and their role in mediating human genomic disorders.

Ji Y, Eichler EE, Schwartz S, Nicholls RD.

Genome Res. 2000 May;10(5):597-610. Review.

12.

Segmental duplications: an 'expanding' role in genomic instability and disease.

Emanuel BS, Shaikh TH.

Nat Rev Genet. 2001 Oct;2(10):791-800. Review.

PMID:
11584295
13.

Molecular mechanisms for CMT1A duplication and HNPP deletion.

Boerkoel CF, Inoue K, Reiter LT, Warner LE, Lupski JR.

Ann N Y Acad Sci. 1999 Sep 14;883:22-35. Review.

PMID:
10586226
14.

Mechanisms for recurrent and complex human genomic rearrangements.

Liu P, Carvalho CM, Hastings PJ, Lupski JR.

Curr Opin Genet Dev. 2012 Jun;22(3):211-20. doi: 10.1016/j.gde.2012.02.012. Epub 2012 Mar 20. Review.

15.

Gross deletions and translocations in human genetic disease.

Abeysinghe SS, Chuzhanova N, Cooper DN.

Genome Dyn. 2006;1:17-34. doi: 10.1159/000092498. Review.

PMID:
18724051
16.

Alu repeats and human disease.

Deininger PL, Batzer MA.

Mol Genet Metab. 1999 Jul;67(3):183-93. Review.

PMID:
10381326
18.

Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.

Carvalho CM, Zhang F, Lupski JR.

Proc Natl Acad Sci U S A. 2010 Jan 26;107 Suppl 1:1765-71. doi: 10.1073/pnas.0906222107. Epub 2010 Jan 13. Review.

19.

Identification of human haploinsufficient genes and their genomic proximity to segmental duplications.

Dang VT, Kassahn KS, Marcos AE, Ragan MA.

Eur J Hum Genet. 2008 Nov;16(11):1350-7. doi: 10.1038/ejhg.2008.111. Epub 2008 Jun 4. Review.

20.

Complex human chromosomal and genomic rearrangements.

Zhang F, Carvalho CM, Lupski JR.

Trends Genet. 2009 Jul;25(7):298-307. doi: 10.1016/j.tig.2009.05.005. Epub 2009 Jun 25. Review.

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