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Results: 10

1.

M2SG: mapping human disease-related genetic variants to protein sequences and genomic loci.

Ji R, Cong Q, Li W, Grishin NV.

Bioinformatics. 2013 Nov 15;29(22):2953-4. doi: 10.1093/bioinformatics/btt507. Epub 2013 Sep 3.

PMID:
24002112
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R.

Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6.

PMID:
23890588
[PubMed - indexed for MEDLINE]
3.

Genetic basis of hyperlysinemia.

Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M.

Orphanet J Rare Dis. 2013 Apr 9;8:57. doi: 10.1186/1750-1172-8-57.

PMID:
23570448
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Distinct genomic aberrations between low-grade and high-grade gliomas of Chinese patients.

Li Y, Wang D, Wang L, Yu J, Du D, Chen Y, Gao P, Wang DM, Yu J, Zhang F, Fu S.

PLoS One. 2013;8(2):e57168. doi: 10.1371/journal.pone.0057168. Epub 2013 Feb 22.

PMID:
23451178
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

The androgenic anabolic steroid tetrahydrogestrinone produces dioxin-like effects via the aryl hydrocarbon receptor.

Moon HY, Kim SH, Ryu SH, Suh PG.

Toxicol In Vitro. 2012 Oct;26(7):1129-33. doi: 10.1016/j.tiv.2012.05.009. Epub 2012 Jun 1.

PMID:
22664790
[PubMed - indexed for MEDLINE]
6.

Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity score.

Barginear MF, Jaremko M, Peter I, Yu C, Kasai Y, Kemeny M, Raptis G, Desnick RJ.

Clin Pharmacol Ther. 2011 Oct;90(4):605-11. doi: 10.1038/clpt.2011.153. Epub 2011 Sep 7.

PMID:
21900890
[PubMed - indexed for MEDLINE]
7.

Renal heat shock proteins over-expression due to anabolic androgenic steroids abuse.

D'Errico S, Di Battista B, Di Paolo M, Fiore C, Pomara C.

Mini Rev Med Chem. 2011 May;11(5):446-50. Review.

PMID:
21443506
[PubMed - indexed for MEDLINE]
8.

Potentially harmful advantage to athletes: a putative connection between UGT2B17 gene deletion polymorphism and renal disorders with prolonged use of anabolic androgenic steroids.

Deshmukh N, Petróczi A, Barker J, Székely AD, Hussain I, Naughton DP.

Subst Abuse Treat Prev Policy. 2010 Apr 29;5:7. doi: 10.1186/1747-597X-5-7.

PMID:
20429943
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Mechanism and substrate recognition of human holo ACP synthase.

Bunkoczi G, Pasta S, Joshi A, Wu X, Kavanagh KL, Smith S, Oppermann U.

Chem Biol. 2007 Nov;14(11):1243-53.

PMID:
18022563
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Sex hormones and risk of liver tumor.

Giannitrapani L, Soresi M, La Spada E, Cervello M, D'Alessandro N, Montalto G.

Ann N Y Acad Sci. 2006 Nov;1089:228-36. Review.

PMID:
17261770
[PubMed - indexed for MEDLINE]
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