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Results: 1 to 20 of 112

1.

Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.

Ankala A, Kohn JN, Hegde A, Meka A, Ephrem CL, Askree SH, Bhide S, Hegde MR.

Genome Res. 2012 Jan;22(1):25-34. doi: 10.1101/gr.123463.111. Epub 2011 Nov 16.

PMID:
22090376
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.

Lee JA, Carvalho CM, Lupski JR.

Cell. 2007 Dec 28;131(7):1235-47.

PMID:
18160035
[PubMed - indexed for MEDLINE]
Free Article
3.

Regional genomic instability predisposes to complex dystrophin gene rearrangements.

Oshima J, Magner DB, Lee JA, Breman AM, Schmitt ES, White LD, Crowe CA, Merrill M, Jayakar P, Rajadhyaksha A, Eng CM, del Gaudio D.

Hum Genet. 2009 Sep;126(3):411-23. doi: 10.1007/s00439-009-0679-9. Epub 2009 May 16.

PMID:
19449031
[PubMed - indexed for MEDLINE]
4.

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Vissers LE, Bhatt SS, Janssen IM, Xia Z, Lalani SR, Pfundt R, Derwinska K, de Vries BB, Gilissen C, Hoischen A, Nesteruk M, Wisniowiecka-Kowalnik B, Smyk M, Brunner HG, Cheung SW, van Kessel AG, Veltman JA, Stankiewicz P.

Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3.

PMID:
19578123
[PubMed - indexed for MEDLINE]
Free Article
5.

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment.

Krawczak M, Cooper DN.

Hum Genet. 1991 Mar;86(5):425-41.

PMID:
2016084
[PubMed - indexed for MEDLINE]
6.

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E.

PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. Epub 2013 Mar 14.

PMID:
23516377
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
8.

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.

Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR.

Am J Hum Genet. 2010 Jun 11;86(6):892-903. doi: 10.1016/j.ajhg.2010.05.001. Epub 2010 May 20.

PMID:
20493460
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Origins and breakpoint analyses of copy number variations: up close and personal.

van Binsbergen E.

Cytogenet Genome Res. 2011;135(3-4):271-6. doi: 10.1159/000330267. Epub 2011 Aug 12. Review.

PMID:
21846967
[PubMed - indexed for MEDLINE]
10.

Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.

Arlt MF, Mulle JG, Schaibley VM, Ragland RL, Durkin SG, Warren ST, Glover TW.

Am J Hum Genet. 2009 Mar;84(3):339-50. doi: 10.1016/j.ajhg.2009.01.024. Epub 2009 Feb 19.

PMID:
19232554
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.

Koumbaris G, Hatzisevastou-Loukidou H, Alexandrou A, Ioannides M, Christodoulou C, Fitzgerald T, Rajan D, Clayton S, Kitsiou-Tzeli S, Vermeesch JR, Skordis N, Antoniou P, Kurg A, Georgiou I, Carter NP, Patsalis PC.

Hum Mol Genet. 2011 May 15;20(10):1925-36. doi: 10.1093/hmg/ddr074. Epub 2011 Feb 24.

PMID:
21349920
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.

del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.

Hum Mutat. 2008 Sep;29(9):1100-7. doi: 10.1002/humu.20841.

PMID:
18752307
[PubMed - indexed for MEDLINE]
13.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

Froyen G, Belet S, Martinez F, Santos-Rebouças CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P.

Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26.

PMID:
22840365
[PubMed - indexed for MEDLINE]
Free PMC Article
14.
15.

Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage.

Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN.

Hum Mutat. 2005 Feb;25(2):207-21. Erratum in: Hum Mutat. 2005 Mar;25(3):318.

PMID:
15643617
[PubMed - indexed for MEDLINE]
16.

Replication slippage between distant short repeats in Saccharomyces cerevisiae depends on the direction of replication and the RAD50 and RAD52 genes.

Tran HT, Degtyareva NP, Koloteva NN, Sugino A, Masumoto H, Gordenin DA, Resnick MA.

Mol Cell Biol. 1995 Oct;15(10):5607-17.

PMID:
7565712
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A microhomology-mediated break-induced replication model for the origin of human copy number variation.

Hastings PJ, Ira G, Lupski JR.

PLoS Genet. 2009 Jan;5(1):e1000327. doi: 10.1371/journal.pgen.1000327. Epub 2009 Jan 30. Review.

PMID:
19180184
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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.

PMID:
16380909
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Inheritance of Charcot-Marie-Tooth disease 1A with rare nonrecurrent genomic rearrangement.

Choi BO, Kim NK, Park SW, Hyun YS, Jeon HJ, Hwang JH, Chung KW.

Neurogenetics. 2011 Feb;12(1):51-8. doi: 10.1007/s10048-010-0272-3. Epub 2010 Dec 31.

PMID:
21193943
[PubMed - indexed for MEDLINE]
20.

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.

Kornreich R, Bishop DF, Desnick RJ.

J Biol Chem. 1990 Jun 5;265(16):9319-26.

PMID:
2160973
[PubMed - indexed for MEDLINE]
Free Article

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