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Results: 1 to 20 of 244

1.

Analysis of genome-wide copy number variation in Irish and Dutch ALS populations.

Cronin S, Blauw HM, Veldink JH, van Es MA, Ophoff RA, Bradley DG, van den Berg LH, Hardiman O.

Hum Mol Genet. 2008 Nov 1;17(21):3392-8. doi: 10.1093/hmg/ddn233. Epub 2008 Aug 7.

PMID:
18689356
[PubMed - indexed for MEDLINE]
Free Article
2.

A genome-wide association study of sporadic ALS in a homogenous Irish population.

Cronin S, Berger S, Ding J, Schymick JC, Washecka N, Hernandez DG, Greenway MJ, Bradley DG, Traynor BJ, Hardiman O.

Hum Mol Genet. 2008 Mar 1;17(5):768-74. Epub 2007 Dec 5.

PMID:
18057069
[PubMed - indexed for MEDLINE]
Free Article
3.

Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.

Blauw HM, Veldink JH, van Es MA, van Vught PW, Saris CG, van der Zwaag B, Franke L, Burbach JP, Wokke JH, Ophoff RA, van den Berg LH.

Lancet Neurol. 2008 Apr;7(4):319-26. doi: 10.1016/S1474-4422(08)70048-6. Epub 2008 Mar 3.

PMID:
18313986
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
19997636
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes.

Shen F, Huang J, Fitch KR, Truong VB, Kirby A, Chen W, Zhang J, Liu G, McCarroll SA, Jones KW, Shapero MH.

BMC Genet. 2008 Mar 28;9:27. doi: 10.1186/1471-2156-9-27.

PMID:
18373861
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Segmental copy-number variation observed in Japanese by array-CGH.

Takahashi N, Tsuyama N, Sasaki K, Kodaira M, Satoh Y, Kodama Y, Sugita K, Katayama H.

Ann Hum Genet. 2008 Mar;72(Pt 2):193-204. doi: 10.1111/j.1469-1809.2007.00415.x. Epub 2008 Jan 20.

PMID:
18205891
[PubMed - indexed for MEDLINE]
7.

Population analysis of large copy number variants and hotspots of human genetic disease.

Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE.

Am J Hum Genet. 2009 Feb;84(2):148-61. doi: 10.1016/j.ajhg.2008.12.014. Epub 2009 Jan 22.

PMID:
19166990
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis.

Van Es MA, Van Vught PW, Veldink JH, Andersen PM, Birve A, Lemmens R, Cronin S, Van Der Kooi AJ, De Visser M, Schelhaas HJ, Hardiman O, Ragoussis I, Lambrechts D, Robberecht W, Wokke JH, Ophoff RA, Van Den Berg LH.

Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):441-7. doi: 10.3109/17482960802673042.

PMID:
19922138
[PubMed - indexed for MEDLINE]
9.

Identification of genome-wide copy number variations and a family-based association study of Avellino corneal dystrophy.

Bae JS, Cheong HS, Chun JY, Park TJ, Kim JO, Kim EM, Park M, Kim DJ, Lee EJ, Kim EK, Lee JY, Shin HD.

Ophthalmology. 2010 Jul;117(7):1306-12.e4. doi: 10.1016/j.ophtha.2009.11.021. Epub 2010 Mar 3.

PMID:
20202685
[PubMed - indexed for MEDLINE]
10.

A genome-wide survey of copy number variations in Han Chinese residing in Taiwan.

Lin CH, Lin YC, Wu JY, Pan WH, Chen YT, Fann CS.

Genomics. 2009 Oct;94(4):241-6. doi: 10.1016/j.ygeno.2009.06.004. Epub 2009 Jun 25.

PMID:
19559783
[PubMed - indexed for MEDLINE]
Free Article
11.

Copy number variations (CNVs) identified in Korean individuals.

Kang TW, Jeon YJ, Jang E, Kim HJ, Kim JH, Park JL, Lee S, Kim YS, Kim JY, Kim SY.

BMC Genomics. 2008 Oct 18;9:492. doi: 10.1186/1471-2164-9-492.

PMID:
18928558
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE, Sheffield L, Tan T, White SM, Yeung A, Bowman Z, Ngo C, Choy KW, Cacheux V, Wong L, Amor DJ, Slater HR.

J Med Genet. 2009 Feb;46(2):123-31. doi: 10.1136/jmg.2008.062604. Epub 2008 Nov 17.

PMID:
19015223
[PubMed - indexed for MEDLINE]
13.

The fine-scale and complex architecture of human copy-number variation.

Perry GH, Ben-Dor A, Tsalenko A, Sampas N, Rodriguez-Revenga L, Tran CW, Scheffer A, Steinfeld I, Tsang P, Yamada NA, Park HS, Kim JI, Seo JS, Yakhini Z, Laderman S, Bruhn L, Lee C.

Am J Hum Genet. 2008 Mar;82(3):685-95. doi: 10.1016/j.ajhg.2007.12.010. Epub 2008 Jan 24.

PMID:
18304495
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

What a difference copy number variation makes.

Kehrer-Sawatzki H.

Bioessays. 2007 Apr;29(4):311-3.

PMID:
17373652
[PubMed - indexed for MEDLINE]
15.

A large genome scan for rare CNVs in amyotrophic lateral sclerosis.

Blauw HM, Al-Chalabi A, Andersen PM, van Vught PW, Diekstra FP, van Es MA, Saris CG, Groen EJ, van Rheenen W, Koppers M, Van't Slot R, Strengman E, Estrada K, Rivadeneira F, Hofman A, Uitterlinden AG, Kiemeney LA, Vermeulen SH, Birve A, Waibel S, Meyer T, Cronin S, McLaughlin RL, Hardiman O, Sapp PC, Tobin MD, Wain LV, Tomik B, Slowik A, Lemmens R, Rujescu D, Schulte C, Gasser T, Brown RH Jr, Landers JE, Robberecht W, Ludolph AC, Ophoff RA, Veldink JH, van den Berg LH.

Hum Mol Genet. 2010 Oct 15;19(20):4091-9. doi: 10.1093/hmg/ddq323. Epub 2010 Aug 4.

PMID:
20685689
[PubMed - indexed for MEDLINE]
Free Article
16.

[Copy-number variation: a new pattern of structural diversity in genome].

Wu ZJ, Jin W.

Yi Chuan. 2009 Apr;31(4):339-47. Review. Chinese.

PMID:
19586885
[PubMed - indexed for MEDLINE]
17.

Association between DPP6 polymorphism and the risk of sporadic amyotrophic lateral sclerosis in Chinese patients.

Li XG, Zhang JH, Xie MQ, Liu MS, Li BH, Zhao YH, Ren HT, Cui LY.

Chin Med J (Engl). 2009 Dec 20;122(24):2989-92.

PMID:
20137488
[PubMed - indexed for MEDLINE]
Free Article
18.

Paraoxonase cluster polymorphisms are associated with sporadic ALS.

Saeed M, Siddique N, Hung WY, Usacheva E, Liu E, Sufit RL, Heller SL, Haines JL, Pericak-Vance M, Siddique T.

Neurology. 2006 Sep 12;67(5):771-6. Epub 2006 Jul 5.

PMID:
16822964
[PubMed - indexed for MEDLINE]
19.

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test.

Ionita-Laza I, Perry GH, Raby BA, Klanderman B, Lee C, Laird NM, Weiss ST, Lange C.

Genet Epidemiol. 2008 Apr;32(3):273-84. doi: 10.1002/gepi.20302.

PMID:
18228561
[PubMed - indexed for MEDLINE]
20.

Copy-number variation in control population cohorts.

Pinto D, Marshall C, Feuk L, Scherer SW.

Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R168-73. Review. Erratum in: Hum Mol Genet. 2008 Feb 1;17(3):166-7.

PMID:
17911159
[PubMed - indexed for MEDLINE]
Free Article

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