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Items: 16

1.

PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1.

Vogt J, Wernstedt A, Ripperger T, Pabst B, Zschocke J, Kratz C, Wimmer K.

Eur J Hum Genet. 2016 Nov;24(11):1598-1604. doi: 10.1038/ejhg.2016.75. Epub 2016 Jun 22.

PMID:
27329736
2.

Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.

Morais S, Bastos-Ferreira R, Sequeiros J, Alonso I.

Neurol Genet. 2016 May 3;2(3):e73. doi: 10.1212/NXG.0000000000000073. eCollection 2016 Jun.

3.

Genomic instability in the PARK2 locus is associated with Parkinson's disease.

Ambroziak W, Koziorowski D, Duszyc K, Górka-Skoczylas P, Potulska-Chromik A, Sławek J, Hoffman-Zacharska D.

J Appl Genet. 2015 Nov;56(4):451-461. doi: 10.1007/s13353-015-0282-9. Epub 2015 Apr 2.

4.

Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients.

Chen C, Ma H, Zhang F, Chen L, Xing X, Wang S, Zhang X, Luo Y.

PLoS One. 2014 Sep 22;9(9):e108038. doi: 10.1371/journal.pone.0108038. eCollection 2014.

5.

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.

Guerreiro R, Brás J, Hardy J, Singleton A.

Hum Mol Genet. 2014 Sep 15;23(R1):R47-53. doi: 10.1093/hmg/ddu203. Epub 2014 May 2. Review.

6.

Genetic insights into sporadic Parkinson's disease pathogenesis.

Chai C, Lim KL.

Curr Genomics. 2013 Dec;14(8):486-501. doi: 10.2174/1389202914666131210195808.

7.

Cancer-related genes in the transcription signature of facioscapulohumeral dystrophy myoblasts and myotubes.

Dmitriev P, Kairov U, Robert T, Barat A, Lazar V, Carnac G, Laoudj-Chenivesse D, Vassetzky YS.

J Cell Mol Med. 2014 Feb;18(2):208-17. doi: 10.1111/jcmm.12182. Epub 2013 Dec 17.

8.

Simultaneous identification of multiple driver pathways in cancer.

Leiserson MD, Blokh D, Sharan R, Raphael BJ.

PLoS Comput Biol. 2013;9(5):e1003054. doi: 10.1371/journal.pcbi.1003054. Epub 2013 May 23.

9.

Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.

Proukakis C, Houlden H, Schapira AH.

Mov Disord. 2013 Jun;28(6):705-12. doi: 10.1002/mds.25502. Epub 2013 May 14.

10.

High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2.

Wang L, Nuytemans K, Bademci G, Jauregui C, Martin ER, Scott WK, Vance JM, Zuchner S.

Hum Mutat. 2013 Aug;34(8):1071-4. doi: 10.1002/humu.22344. Epub 2013 May 28.

11.

Chromosome fragile sites in Arabidopsis harbor matrix attachment regions that may be associated with ancestral chromosome rearrangement events.

dela Paz JS, Stronghill PE, Douglas SJ, Saravia S, Hasenkampf CA, Riggs CD.

PLoS Genet. 2012;8(12):e1003136. doi: 10.1371/journal.pgen.1003136. Epub 2012 Dec 20.

12.

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.

Sun Z, Liu P, Jia X, Withers MA, Jin L, Lupski JR, Zhang F.

Hum Mol Genet. 2013 Feb 15;22(4):749-56. doi: 10.1093/hmg/dds482. Epub 2012 Nov 16.

13.

Common fragile sites: genomic hotspots of DNA damage and carcinogenesis.

Ma K, Qiu L, Mrasek K, Zhang J, Liehr T, Quintana LG, Li Z.

Int J Mol Sci. 2012;13(9):11974-99. doi: 10.3390/ijms130911974. Epub 2012 Sep 20. Review.

14.

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue.

Imaizumi Y, Okada Y, Akamatsu W, Koike M, Kuzumaki N, Hayakawa H, Nihira T, Kobayashi T, Ohyama M, Sato S, Takanashi M, Funayama M, Hirayama A, Soga T, Hishiki T, Suematsu M, Yagi T, Ito D, Kosakai A, Hayashi K, Shouji M, Nakanishi A, Suzuki N, Mizuno Y, Mizushima N, Amagai M, Uchiyama Y, Mochizuki H, Hattori N, Okano H.

Mol Brain. 2012 Oct 6;5:35. doi: 10.1186/1756-6606-5-35.

15.

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.

Ishmukhametova A, Khau Van Kien P, Méchin D, Thorel D, Vincent MC, Rivier F, Coubes C, Humbertclaude V, Claustres M, Tuffery-Giraud S.

Eur J Hum Genet. 2012 Oct;20(10):1096-100. doi: 10.1038/ejhg.2012.51. Epub 2012 Apr 18.

16.

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.

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