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PubMed (OMIM) for id: 23543
7 results
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Page 1
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Science. 2015 Dec 4;350(6265):1262-6. doi: 10.1126/science.aac9396.
Science. 2015.
PMID: 26785492
Free PMC article.
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Glessner JT, Bick AG, Ito K, Homsy J, Rodriguez-Murillo L, Fromer M, Mazaika E, Vardarajan B, Italia M, Leipzig J, DePalma SR, Golhar R, Sanders SJ, Yamrom B, Ronemus M, Iossifov I, Willsey AJ, State MW, Kaltman JR, White PS, Shen Y, Warburton D, Brueckner M, Seidman C, Goldmuntz E, Gelb BD, Lifton R, Seidman J, Hakonarson H, Chung WK.
Glessner JT, et al.
Circ Res. 2014 Oct 24;115(10):884-896. doi: 10.1161/CIRCRESAHA.115.304458. Epub 2014 Sep 9.
Circ Res. 2014.
PMID: 25205790
Free PMC article.
Clinical Trial.
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Regulated Fox-2 isoform expression mediates protein 4.1R splicing during erythroid differentiation.
Yang G, Huang SC, Wu JY, Benz EJ Jr.
Yang G, et al.
Blood. 2008 Jan 1;111(1):392-401. doi: 10.1182/blood-2007-01-068940. Epub 2007 Aug 22.
Blood. 2008.
PMID: 17715393
Free PMC article.
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A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY.
Lim J, et al.
Cell. 2006 May 19;125(4):801-14. doi: 10.1016/j.cell.2006.03.032.
Cell. 2006.
PMID: 16713569
Free article.
Item in Clipboard
Fox-2 splicing factor binds to a conserved intron motif to promote inclusion of protein 4.1R alternative exon 16.
Ponthier JL, Schluepen C, Chen W, Lersch RA, Gee SL, Hou VC, Lo AJ, Short SA, Chasis JA, Winkelmann JC, Conboy JG.
Ponthier JL, et al.
J Biol Chem. 2006 May 5;281(18):12468-74. doi: 10.1074/jbc.M511556200. Epub 2006 Mar 14.
J Biol Chem. 2006.
PMID: 16537540
Free article.
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Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.
Underwood JG, Boutz PL, Dougherty JD, Stoilov P, Black DL.
Underwood JG, et al.
Mol Cell Biol. 2005 Nov;25(22):10005-16. doi: 10.1128/MCB.25.22.10005-10016.2005.
Mol Cell Biol. 2005.
PMID: 16260614
Free PMC article.
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A negative coregulator for the human ER.
Norris JD, Fan D, Sherk A, McDonnell DP.
Norris JD, et al.
Mol Endocrinol. 2002 Mar;16(3):459-68. doi: 10.1210/mend.16.3.0787.
Mol Endocrinol. 2002.
PMID: 11875103
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