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Items: 1 to 20 of 44

1.

Identification of a t(3;4)(p1.3;q1.5) translocation breakpoint in pigs using somatic cell hybrid mapping and high-resolution mate-pair sequencing.

Fève K, Foissac S, Pinton A, Mompart F, Esquerré D, Faraut T, Yerle M, Riquet J.

PLoS One. 2017 Nov 9;12(11):e0187617. doi: 10.1371/journal.pone.0187617. eCollection 2017.

2.

Recurrent Fusion Genes in Leukemia: An Attractive Target for Diagnosis and Treatment.

Wang Y, Wu N, Liu D, Jin Y.

Curr Genomics. 2017 Oct;18(5):378-384. doi: 10.2174/1389202918666170329110349. Review.

PMID:
29081694
3.

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes.

Simioni M, Artiguenave F, Meyer V, Sgardioli IC, Viguetti-Campos NL, Lopes Monlleó I, Maciel-Guerra AT, Steiner CE, Gil-da-Silva-Lopes VL.

Mol Syndromol. 2017 Jun;8(4):187-194. doi: 10.1159/000477084. Epub 2017 Jun 1.

4.

Detection of Emerging Vaccine-Related Polioviruses by Deep Sequencing.

Sahoo MK, Holubar M, Huang C, Mohamed-Hadley A, Liu Y, Waggoner JJ, Troy SB, Garcia-Garcia L, Ferreyra-Reyes L, Maldonado Y, Pinsky BA.

J Clin Microbiol. 2017 Jul;55(7):2162-2171. doi: 10.1128/JCM.00144-17. Epub 2017 May 3.

5.

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.

Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F, Tanteles G, Christophidou-Anastasiadou V, Tommerup N, Sismani C.

PLoS One. 2017 Jan 10;12(1):e0169935. doi: 10.1371/journal.pone.0169935. eCollection 2017. Erratum in: PLoS One. 2017 Mar 15;12 (3):e0174190.

6.

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.

Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Lundberg ES, Carvalho CMB, Lindstrand A.

Hum Mutat. 2017 Feb;38(2):180-192. doi: 10.1002/humu.23146. Epub 2016 Dec 5.

7.

Reciprocal Translocation Carrier Diagnosis in Preimplantation Human Embryos.

Hu L, Cheng D, Gong F, Lu C, Tan Y, Luo K, Wu X, He W, Xie P, Feng T, Yang K, Lu G, Lin G.

EBioMedicine. 2016 Dec;14:139-147. doi: 10.1016/j.ebiom.2016.11.007. Epub 2016 Nov 5.

8.

Contrasting origin of B chromosomes in two cervids (Siberian roe deer and grey brocket deer) unravelled by chromosome-specific DNA sequencing.

Makunin AI, Kichigin IG, Larkin DM, O'Brien PC, Ferguson-Smith MA, Yang F, Proskuryakova AA, Vorobieva NV, Chernyaeva EN, O'Brien SJ, Graphodatsky AS, Trifonov VA.

BMC Genomics. 2016 Aug 11;17(1):618. doi: 10.1186/s12864-016-2933-6.

9.

Comparison and evaluation of two exome capture kits and sequencing platforms for variant calling.

Zhang G, Wang J, Yang J, Li W, Deng Y, Li J, Huang J, Hu S, Zhang B.

BMC Genomics. 2015 Aug 5;16:581. doi: 10.1186/s12864-015-1796-6.

10.

Human Structural Variation: Mechanisms of Chromosome Rearrangements.

Weckselblatt B, Rudd MK.

Trends Genet. 2015 Oct;31(10):587-99. doi: 10.1016/j.tig.2015.05.010. Epub 2015 Jul 22. Review.

11.

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.

Weckselblatt B, Hermetz KE, Rudd MK.

Genome Res. 2015 Jul;25(7):937-47. doi: 10.1101/gr.191247.115. Epub 2015 Jun 12.

12.

GROM-RD: resolving genomic biases to improve read depth detection of copy number variants.

Smith SD, Kawash JK, Grigoriev A.

PeerJ. 2015 Mar 17;3:e836. doi: 10.7717/peerj.836. eCollection 2015.

13.

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.

Kloosterman WP, Hochstenbach R.

Mol Cytogenet. 2014 Dec 19;7(1):100. doi: 10.1186/s13039-014-0100-9. eCollection 2014.

14.

Molecular characterization of the rare translocation t(3;10)(q26;q21) in an acute myeloid leukemia patient.

Jancuskova T, Plachy R, Zemankova L, Hardekopf DW, Stika J, Zejskova L, Praulich I, Kreuzer KA, Rothe A, Othman MA, Kosyakova N, Pekova S.

Mol Cytogenet. 2014 Jul 15;7:47. doi: 10.1186/1755-8166-7-47. eCollection 2014.

15.

Structural variations in plant genomes.

Saxena RK, Edwards D, Varshney RK.

Brief Funct Genomics. 2014 Jul;13(4):296-307. doi: 10.1093/bfgp/elu016. Epub 2014 Jun 6.

16.

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

Ordulu Z, Wong KE, Currall BB, Ivanov AR, Pereira S, Althari S, Gusella JF, Talkowski ME, Morton CC.

Am J Hum Genet. 2014 May 1;94(5):695-709. doi: 10.1016/j.ajhg.2014.03.020. Epub 2014 Apr 17.

17.

Breaking down RET breakpoints in lung adenocarcinoma.

Watanabe H, Brooks AN, Meyerson M.

J Thorac Oncol. 2014 May;9(5):590-2. doi: 10.1097/JTO.0000000000000168. No abstract available.

18.

Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation.

Blake J, Riddell A, Theiss S, Gonzalez AP, Haase B, Jauch A, Janssen JW, Ibberson D, Pavlinic D, Moog U, Benes V, Runz H.

PLoS One. 2014 Mar 13;9(3):e90894. doi: 10.1371/journal.pone.0090894. eCollection 2014.

19.

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

Vergult S, Van Binsbergen E, Sante T, Nowak S, Vanakker O, Claes K, Poppe B, Van der Aa N, van Roosmalen MJ, Duran K, Tavakoli-Yaraki M, Swinkels M, van den Boogaard MJ, van Haelst M, Roelens F, Speleman F, Cuppen E, Mortier G, Kloosterman WP, Menten B.

Eur J Hum Genet. 2014 May;22(5):652-9. doi: 10.1038/ejhg.2013.220. Epub 2013 Oct 9.

20.

BAIT: Organizing genomes and mapping rearrangements in single cells.

Hills M, O'Neill K, Falconer E, Brinkman R, Lansdorp PM.

Genome Med. 2013 Sep 13;5(9):82. doi: 10.1186/gm486. eCollection 2013.

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