de Smith AJ - Search Results

1

Gene-Environment Analyses Reveal Novel Genetic Candidates with Prenatal Tobacco Exposure in Relation to Risk for Childhood Acute Lymphoblastic Leukemia.

Zhong C, Li S, Arroyo K, Morimoto LM, de Smith AJ, Metayer C, Ma X, Kogan SC, Gauderman WJ, Wiemels JL. Zhong C, et al. Among authors: de smith aj. Cancer Epidemiol Biomarkers Prev. 2023 Dec 1;32(12):1707-1715. doi: 10.1158/1055-9965.EPI-23-0258. Cancer Epidemiol Biomarkers Prev. 2023. PMID: 37773025

2

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.

de Smith AJ, van Haelst MM, Ellis RJ, Holder SE, Payne SJ, Hashim SK, Froguel P, Blakemore AI. de Smith AJ, et al. Am J Med Genet A. 2011 May;155A(5):1192-5. doi: 10.1002/ajmg.a.33986. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465662 No abstract available.

3

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity.

Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SC, de Smith A, Blakemore AI, Froguel P, Owen CJ, Pearce SH, Teixeira L, Guillevin L, Graham DS, Pusey CD, Cook HT, Vyse TJ, Aitman TJ. Fanciulli M, et al. Nat Genet. 2007 Jun;39(6):721-3. doi: 10.1038/ng2046. Epub 2007 May 21. Nat Genet. 2007. PMID: 17529978 Free PMC article.

4

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases.

de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, Tsang P, Ben-Dor A, Yakhini Z, Ellis RJ, Bruhn L, Laderman S, Froguel P, Blakemore AI. de Smith AJ, et al. Hum Mol Genet. 2007 Dec 1;16(23):2783-94. doi: 10.1093/hmg/ddm208. Epub 2007 Jul 31. Hum Mol Genet. 2007. PMID: 17666407

5

PDGFRα demarcates the cardiogenic clonogenic Sca1+ stem/progenitor cell in adult murine myocardium.

Noseda M, Harada M, McSweeney S, Leja T, Belian E, Stuckey DJ, Abreu Paiva MS, Habib J, Macaulay I, de Smith AJ, al-Beidh F, Sampson R, Lumbers RT, Rao P, Harding SE, Blakemore AI, Jacobsen SE, Barahona M, Schneider MD. Noseda M, et al. Among authors: de smith aj. Nat Commun. 2015 May 18;6:6930. doi: 10.1038/ncomms7930. Nat Commun. 2015. PMID: 25980517 Free PMC article.

6

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs.

Coin LJ, Asher JE, Walters RG, Moustafa JS, de Smith AJ, Sladek R, Balding DJ, Froguel P, Blakemore AI. Coin LJ, et al. Among authors: de smith aj. Nat Methods. 2010 Jul;7(7):541-6. doi: 10.1038/nmeth.1466. Epub 2010 May 30. Nat Methods. 2010. PMID: 20512141

7

Cortical Lewy bodies and Aβ burden are associated with prevalence and timing of dementia in Lewy body diseases.

Ruffmann C, Calboli FC, Bravi I, Gveric D, Curry LK, de Smith A, Pavlou S, Buxton JL, Blakemore AI, Takousis P, Molloy S, Piccini P, Dexter DT, Roncaroli F, Gentleman SM, Middleton LT. Ruffmann C, et al. Neuropathol Appl Neurobiol. 2016 Aug;42(5):436-50. doi: 10.1111/nan.12294. Epub 2015 Dec 2. Neuropathol Appl Neurobiol. 2016. PMID: 26527105 Free article.

8

Small deletion variants have stable breakpoints commonly associated with alu elements.

de Smith AJ, Walters RG, Coin LJ, Steinfeld I, Yakhini Z, Sladek R, Froguel P, Blakemore AI. de Smith AJ, et al. PLoS One. 2008 Aug 29;3(8):e3104. doi: 10.1371/journal.pone.0003104. PLoS One. 2008. PMID: 18769679 Free PMC article.

9

Imprinted expression of UBE3A in non-neuronal cells from a Prader-Willi syndrome patient with an atypical deletion.

Martins-Taylor K, Hsiao JS, Chen PF, Glatt-Deeley H, De Smith AJ, Blakemore AI, Lalande M, Chamberlain SJ. Martins-Taylor K, et al. Among authors: de smith aj. Hum Mol Genet. 2014 May 1;23(9):2364-73. doi: 10.1093/hmg/ddt628. Epub 2013 Dec 20. Hum Mol Genet. 2014. PMID: 24363065 Free PMC article.

10

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.

Walters RG, Coin LJ, Ruokonen A, de Smith AJ, El-Sayed Moustafa JS, Jacquemont S, Elliott P, Esko T, Hartikainen AL, Laitinen J, Männik K, Martinet D, Meyre D, Nauck M, Schurmann C, Sladek R, Thorleifsson G, Thorsteinsdóttir U, Valsesia A, Waeber G, Zufferey F, Balkau B, Pattou F, Metspalu A, Völzke H, Vollenweider P, Stefansson K, Järvelin MR, Beckmann JS, Froguel P, Blakemore AI. Walters RG, et al. Among authors: de smith aj. PLoS One. 2013;8(3):e58048. doi: 10.1371/journal.pone.0058048. Epub 2013 Mar 12. PLoS One. 2013. PMID: 23554873 Free PMC article. Clinical Trial.

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