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Items: 1 to 20 of 124

1.

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.

Lupski JR, Stankiewicz P.

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

2.

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
3.

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
4.
5.

Genome architecture, rearrangements and genomic disorders.

Stankiewicz P, Lupski JR.

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

PMID:
11818139
7.

Mechanisms for human genomic rearrangements.

Gu W, Zhang F, Lupski JR.

Pathogenetics. 2008 Nov 3;1(1):4. doi: 10.1186/1755-8417-1-4.

8.

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.

Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR.

Hum Mol Genet. 2006 Jul 15;15(14):2250-65. Epub 2006 Jun 14.

PMID:
16774974
9.

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.

Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR.

J Med Genet. 2004 Feb;41(2):113-9.

10.

Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements.

Armengol L, Pujana MA, Cheung J, Scherer SW, Estivill X.

Hum Mol Genet. 2003 Sep 1;12(17):2201-8. Epub 2003 Jul 8.

PMID:
12915466
11.

Genomic rearrangements in inherited disease and cancer.

Chen JM, Cooper DN, Férec 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
12.

Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM.

Am J Hum Genet. 2005 Dec;77(6):966-87. Epub 2005 Oct 19.

13.

Inverted low-copy repeats and genome instability--a genome-wide analysis.

Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A.

Hum Mutat. 2013 Jan;34(1):210-20. doi: 10.1002/humu.22217. Epub 2012 Oct 11.

14.

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.

PMID:
14764619
15.

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.

16.

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

D'Angelo CS, Gajecka M, Kim CA, Gentles AJ, Glotzbach CD, Shaffer LG, Koiffmann CP.

Hum Genet. 2009 Jun;125(5-6):551-63. doi: 10.1007/s00439-009-0650-9. Epub 2009 Mar 7.

PMID:
19271239
17.

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B.

Genome Res. 2001 Jun;11(6):1018-33.

18.

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P.

Genome Res. 2013 Sep;23(9):1395-409. doi: 10.1101/gr.152454.112. Epub 2013 May 8.

19.

Genome structural variation and sporadic disease traits.

Lupski JR.

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

PMID:
16941003
20.

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR.

Am J Hum Genet. 2010 Mar 12;86(3):462-70. doi: 10.1016/j.ajhg.2010.02.001. Epub 2010 Feb 25.

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