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Detection of structural variants and indels within exome data.
Karakoc E, Alkan C, O'Roak BJ, Dennis MY, Vives L, Mark K, Rieder MJ, Nickerson DA, Eichler EE. Karakoc E, et al. Nat Methods. 2011 Dec 18;9(2):176-8. doi: 10.1038/nmeth.1810. Nat Methods. 2011. PMID: 22179552 Free PMC article.
Bivalent domains enforce transcriptional memory of DNA methylated genes in cancer cells.
Rodriguez J, Muñoz M, Vives L, Frangou CG, Groudine M, Peinado MA. Rodriguez J, et al. Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19809-14. doi: 10.1073/pnas.0810133105. Epub 2008 Dec 5. Proc Natl Acad Sci U S A. 2008. PMID: 19060200 Free PMC article.
In contrast, active genes in the region become down-regulated after drug treatment, accompanied by a partial loss of chromatin domain boundaries and spreading of the inactive histone mark trimethylated lysine 27 in histone 3. Our results demonstrate that bivalent domains …
In contrast, active genes in the region become down-regulated after drug treatment, accompanied by a partial loss of chromatin domain bounda …
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gécz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE. Girirajan S, et al. Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154674 Free PMC article.
Proposed technique for inguinal hernia repair with self-gripping mesh: avoiding fixation to undesired structures.
Porrero JL, Cano-Valderrama O, Castillo MJ, Alonso MT. Porrero JL, et al. Hernia. 2015 Oct;19(5):771-4. doi: 10.1007/s10029-014-1315-8. Epub 2014 Dec 6. Hernia. 2015. PMID: 25480125
A small split is made between the lower and medium third of the mesh to mark where the split for the spermatic cord will be. Using this mark, the upper third of the mesh is folded over the medium third, hiding the microgrips that make this a self-gripping mesh. ...
A small split is made between the lower and medium third of the mesh to mark where the split for the spermatic cord will be. Using th …