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Items: 16

1.

CNV analysis in the Lithuanian population.

Urnikyte A, Domarkiene I, Stoma S, Ambrozaityte L, Uktveryte I, Meskiene R, Kasiulevičius V, Burokiene N, Kučinskas V.

BMC Genet. 2016 May 4;17(1):64. doi: 10.1186/s12863-016-0373-6.

2.

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease.

Kunkle BW, Jaworski J, Barral S, Vardarajan B, Beecham GW, Martin ER, Cantwell LS, Partch A, Bird TD, Raskind WH, DeStefano AL, Carney RM, Cuccaro M, Vance JM, Farrer LA, Goate AM, Foroud T, Mayeux RP, Schellenberg GD, Haines JL, Pericak-Vance MA.

Alzheimers Dement. 2016 Jan;12(1):2-10. doi: 10.1016/j.jalz.2015.05.020. Epub 2015 Sep 11.

3.

Genome wide analysis reveals single nucleotide polymorphisms associated with fatness and putative novel copy number variants in three pig breeds.

Fowler KE, Pong-Wong R, Bauer J, Clemente EJ, Reitter CP, Affara NA, Waite S, Walling GA, Griffin DK.

BMC Genomics. 2013 Nov 13;14:784. doi: 10.1186/1471-2164-14-784.

4.

Genome-wide copy number variation in sporadic amyotrophic lateral sclerosis in the Turkish population: deletion of EPHA3 is a possible protective factor.

Uyan Ö, Ömür Ö, Ağım ZS, Özoğuz A, Li H, Parman Y, Deymeer F, Oflazer P, Koç F, Tan E, Özçelik H, Başak AN.

PLoS One. 2013 Aug 26;8(8):e72381. doi: 10.1371/journal.pone.0072381. eCollection 2013.

5.

Massive screening of copy number population-scale variation in Bos taurus genome.

Cicconardi F, Chillemi G, Tramontano A, Marchitelli C, Valentini A, Ajmone-Marsan P, Nardone A.

BMC Genomics. 2013 Feb 26;14:124. doi: 10.1186/1471-2164-14-124.

6.

Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms.

Vande Velde C, Dion PA, Rouleau GA.

F1000 Biol Rep. 2011;3:18. doi: 10.3410/B3-18. Epub 2011 Sep 1.

7.

Large common deletions associate with mortality at old age.

Kuningas M, Estrada K, Hsu YH, Nandakumar K, Uitterlinden AG, Lunetta KL, van Duijn CM, Karasik D, Hofman A, Murabito J, Rivadeneira F, Kiel DP, Tiemeier H.

Hum Mol Genet. 2011 Nov 1;20(21):4290-6. doi: 10.1093/hmg/ddr340. Epub 2011 Aug 11.

8.

Copy number variation across European populations.

Chen W, Hayward C, Wright AF, Hicks AA, Vitart V, Knott S, Wild SH, Pramstaller PP, Wilson JF, Rudan I, Porteous DJ.

PLoS One. 2011;6(8):e23087. doi: 10.1371/journal.pone.0023087. Epub 2011 Aug 4.

9.

PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats.

Yu Z, Zhu Y, Chen-Plotkin AS, Clay-Falcone D, McCluskey L, Elman L, Kalb RG, Trojanowski JQ, Lee VM, Van Deerlin VM, Gitler AD, Bonini NM.

PLoS One. 2011 Mar 29;6(3):e17951. doi: 10.1371/journal.pone.0017951.

10.

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.

Lee T, Li YR, Ingre C, Weber M, Grehl T, Gredal O, de Carvalho M, Meyer T, Tysnes OB, Auburger G, Gispert S, Bonini NM, Andersen PM, Gitler AD.

Hum Mol Genet. 2011 May 1;20(9):1697-700. doi: 10.1093/hmg/ddr045. Epub 2011 Feb 3.

11.

Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study.

Marenne G, Rodríguez-Santiago B, Closas MG, Pérez-Jurado L, Rothman N, Rico D, Pita G, Pisano DG, Kogevinas M, Silverman DT, Valencia A, Real FX, Chanock SJ, Génin E, Malats N.

Hum Mutat. 2011 Feb;32(2):240-8. doi: 10.1002/humu.21398. Epub 2011 Jan 25.

12.

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.

Shatunov A, Mok K, Newhouse S, Weale ME, Smith B, Vance C, Johnson L, Veldink JH, van Es MA, van den Berg LH, Robberecht W, Van Damme P, Hardiman O, Farmer AE, Lewis CM, Butler AW, Abel O, Andersen PM, Fogh I, Silani V, Chiò A, Traynor BJ, Melki J, Meininger V, Landers JE, McGuffin P, Glass JD, Pall H, Leigh PN, Hardy J, Brown RH Jr, Powell JF, Orrell RW, Morrison KE, Shaw PJ, Shaw CE, Al-Chalabi A.

Lancet Neurol. 2010 Oct;9(10):986-94. doi: 10.1016/S1474-4422(10)70197-6. Erratum in: Lancet Neurol. 2011 Mar;10(3):205.

13.

CNstream: a method for the identification and genotyping of copy number polymorphisms using Illumina microarrays.

Alonso A, Julià A, Tortosa R, Canaleta C, Cañete JD, Ballina J, Balsa A, Tornero J, Marsal S.

BMC Bioinformatics. 2010 May 19;11:264. doi: 10.1186/1471-2105-11-264.

14.

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis.

Ferlini A, Bovolenta M, Neri M, Gualandi F, Balboni A, Yuryev A, Salvi F, Gemmati D, Liboni A, Zamboni P.

BMC Med Genet. 2010 Apr 28;11:64. doi: 10.1186/1471-2350-11-64.

15.

Identification of copy number variations and common deletion polymorphisms in cattle.

Bae JS, Cheong HS, Kim LH, NamGung S, Park TJ, Chun JY, Kim JY, Pasaje CF, Lee JS, Shin HD.

BMC Genomics. 2010 Apr 9;11:232. doi: 10.1186/1471-2164-11-232.

16.

The role of copy number variation in susceptibility to amyotrophic lateral sclerosis: genome-wide association study and comparison with published loci.

Wain LV, Pedroso I, Landers JE, Breen G, Shaw CE, Leigh PN, Brown RH, Tobin MD, Al-Chalabi A.

PLoS One. 2009 Dec 4;4(12):e8175. doi: 10.1371/journal.pone.0008175.

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