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Page 1
Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency.
Bronson PG, Chang D, Bhangale T, Seldin MF, Ortmann W, Ferreira RC, Urcelay E, Pereira LF, Martin J, Plebani A, Lougaris V, Friman V, Freiberger T, Litzman J, Thon V, Pan-Hammarström Q, Hammarström L, Graham RR, Behrens TW. Bronson PG, et al. Nat Genet. 2016 Nov;48(11):1425-1429. doi: 10.1038/ng.3675. Epub 2016 Oct 10. Nat Genet. 2016. PMID: 27723758 Free PMC article.
Sex-specific linkage scans in opioid dependence.
Yang BZ, Han S, Kranzler HR, Palmer AA, Gelernter J. Yang BZ, et al. Am J Med Genet B Neuropsychiatr Genet. 2017 Apr;174(3):261-268. doi: 10.1002/ajmg.b.32507. Epub 2016 Oct 20. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 27762075 Free PMC article.
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.
Bilguvar K, Tyagi NK, Ozkara C, Tuysuz B, Bakircioglu M, Choi M, Delil S, Caglayan AO, Baranoski JF, Erturk O, Yalcinkaya C, Karacorlu M, Dincer A, Johnson MH, Mane S, Chandra SS, Louvi A, Boggon TJ, Lifton RP, Horwich AL, Gunel M. Bilguvar K, et al. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3489-94. doi: 10.1073/pnas.1222732110. Epub 2013 Jan 28. Proc Natl Acad Sci U S A. 2013. PMID: 23359680 Free PMC article.
Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex.
Kwan KY, Lam MM, Johnson MB, Dube U, Shim S, Rašin MR, Sousa AM, Fertuzinhos S, Chen JG, Arellano JI, Chan DW, Pletikos M, Vasung L, Rowitch DH, Huang EJ, Schwartz ML, Willemsen R, Oostra BA, Rakic P, Heffer M, Kostović I, Judaš M, Sestan N. Kwan KY, et al. Cell. 2012 May 11;149(4):899-911. doi: 10.1016/j.cell.2012.02.060. Cell. 2012. PMID: 22579290 Free PMC article.
46 results