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Results: 1 to 20 of 199

Cited In for PubMed (Select 19180184)

1.

Chromosomal Rearrangements in Cancer: Detection and potential causal mechanisms.

Hasty P, Montagna C.

Mol Cell Oncol. 2014 Jul;1(1). pii: e29904.

2.

SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.

Magri C, Marchina E, Bertini V, Traversa M, Savio G, Pilotta A, Piovani G.

BMC Med Genet. 2015 Jul 7;16:47. doi: 10.1186/s12881-015-0193-y.

3.

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

Dharmadhikari AV, Szafranski P, Kalinichenko VV, Stankiewicz P.

Curr Genomics. 2015 Apr;16(2):107-16. doi: 10.2174/1389202916666150122223252.

PMID:
26085809
4.

AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia.

Virts EL, Jankowska A, Mackay C, Glaas MF, Wiek C, Kelich SL, Lottmann N, Kennedy FM, Marchal C, Lehnert E, Scharf RE, Dufour C, Lanciotti M, Farruggia P, Santoro A, Savasan S, Scheckenbach K, Schipper J, Wagenmann M, Lewis T, Leffak M, Farlow JL, Foroud TM, Honisch E, Niederacher D, Chakraborty SC, Vance GH, Pruss D, Timms KM, Lanchbury JS, Alpi AF, Hanenberg H.

Hum Mol Genet. 2015 Sep 15;24(18):5093-108. doi: 10.1093/hmg/ddv227. Epub 2015 Jun 17.

5.

Lineage specific evolution of the VNTR composite retrotransposon central domain and its role in retrotransposition of gibbon LAVA elements.

Lupan I, Bulzu P, Popescu O, Damert A.

BMC Genomics. 2015 May 16;16:389. doi: 10.1186/s12864-015-1543-z.

6.

Catastrophic chromosomal restructuring during genome elimination in plants.

Tan EH, Henry IM, Ravi M, Bradnam KR, Mandakova T, Marimuthu MP, Korf I, Lysak MA, Comai L, Chan SW.

Elife. 2015 May 15;4. doi: 10.7554/eLife.06516.

7.

Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.

Gu S, Yuan B, Campbell IM, Beck CR, Carvalho CM, Nagamani SC, Erez A, Patel A, Bacino CA, Shaw CA, Stankiewicz P, Cheung SW, Bi W, Lupski JR.

Hum Mol Genet. 2015 Jul 15;24(14):4061-77. doi: 10.1093/hmg/ddv146. Epub 2015 Apr 23.

PMID:
25908615
8.

PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations.

Wang M, Beck CR, English AC, Meng Q, Buhay C, Han Y, Doddapaneni HV, Yu F, Boerwinkle E, Lupski JR, Muzny DM, Gibbs RA.

BMC Genomics. 2015 Mar 19;16:214. doi: 10.1186/s12864-015-1370-2.

9.

SCNVSim: somatic copy number variation and structure variation simulator.

Qin M, Liu B, Conroy JM, Morrison CD, Hu Q, Cheng Y, Murakami M, Odunsi AO, Johnson CS, Wei L, Liu S, Wang J.

BMC Bioinformatics. 2015 Feb 28;16:66. doi: 10.1186/s12859-015-0502-7.

10.

Assessing structural variation in a personal genome-towards a human reference diploid genome.

English AC, Salerno WJ, Hampton OA, Gonzaga-Jauregui C, Ambreth S, Ritter DI, Beck CR, Davis CF, Dahdouli M, Ma S, Carroll A, Veeraraghavan N, Bruestle J, Drees B, Hastie A, Lam ET, White S, Mishra P, Wang M, Han Y, Zhang F, Stankiewicz P, Wheeler DA, Reid JG, Muzny DM, Rogers J, Sabo A, Worley KC, Lupski JR, Boerwinkle E, Gibbs RA.

BMC Genomics. 2015 Apr 11;16:286. doi: 10.1186/s12864-015-1479-3.

11.

Structural variation discovery in the cancer genome using next generation sequencing: computational solutions and perspectives.

Liu B, Conroy JM, Morrison CD, Odunsi AO, Qin M, Wei L, Trump DL, Johnson CS, Liu S, Wang J.

Oncotarget. 2015 Mar 20;6(8):5477-89.

12.

Organelle DNA rearrangement mapping reveals U-turn-like inversions as a major source of genomic instability in Arabidopsis and humans.

Zampini É, Lepage É, Tremblay-Belzile S, Truche S, Brisson N.

Genome Res. 2015 May;25(5):645-54. doi: 10.1101/gr.188573.114. Epub 2015 Mar 23.

PMID:
25800675
13.

Absence of heterozygosity due to template switching during replicative rearrangements.

Carvalho CM, Pfundt R, King DA, Lindsay SJ, Zuccherato LW, Macville MV, Liu P, Johnson D, Stankiewicz P, Brown CW; DDD Study, Shaw CA, Hurles ME, Ira G, Hastings PJ, Brunner HG, Lupski JR.

Am J Hum Genet. 2015 Apr 2;96(4):555-64. doi: 10.1016/j.ajhg.2015.01.021. Epub 2015 Mar 19.

PMID:
25799105
14.

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

Fares-Taie L, Gerber S, Tawara A, Ramirez-Miranda A, Douet JY, Verdin H, Guilloux A, Zenteno JC, Kondo H, Moisset H, Passet B, Yamamoto K, Iwai M, Tanaka T, Nakamura Y, Kimura W, Bole-Feysot C, Vilotte M, Odent S, Vilotte JL, Munnich A, Regnier A, Chassaing N, De Baere E, Raymond-Letron I, Kaplan J, Calvas P, Roche O, Rozet JM.

Am J Hum Genet. 2015 Apr 2;96(4):631-9. doi: 10.1016/j.ajhg.2015.01.014. Epub 2015 Mar 12.

PMID:
25772937
15.

Hardy-Weinberg equilibrium revisited for inferences on genotypes featuring allele and copy-number variations.

Recke A, Recke KG, Ibrahim S, Möller S, Vonthein R.

Sci Rep. 2015 Mar 13;5:9066. doi: 10.1038/srep09066.

16.

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR.

PLoS Genet. 2015 Mar 6;11(3):e1005050. doi: 10.1371/journal.pgen.1005050. eCollection 2015 Mar.

17.

Rapid evolution of recombinant Saccharomyces cerevisiae for Xylose fermentation through formation of extra-chromosomal circular DNA.

Demeke MM, Foulquié-Moreno MR, Dumortier F, Thevelein JM.

PLoS Genet. 2015 Mar 4;11(3):e1005010. doi: 10.1371/journal.pgen.1005010. eCollection 2015 Mar.

18.

Genome architecture and its roles in human copy number variation.

Chen L, Zhou W, Zhang L, Zhang F.

Genomics Inform. 2014 Dec;12(4):136-44. doi: 10.5808/GI.2014.12.4.136. Epub 2014 Dec 31. Review.

19.

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A.

Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.

20.

Intrachromosomal amplification, locus deletion and point mutation in the aquaglyceroporin AQP1 gene in antimony resistant Leishmania (Viannia) guyanensis.

Monte-Neto R, Laffitte MC, Leprohon P, Reis P, Frézard F, Ouellette M.

PLoS Negl Trop Dis. 2015 Feb 13;9(2):e0003476. doi: 10.1371/journal.pntd.0003476. eCollection 2015 Feb.

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