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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Carvalho CM, Ramocki MB, Pehlivan D, Franco LM, Gonzaga-Jauregui C, Fang P, McCall A, Pivnick EK, Hines-Dowell S, Seaver LH, Friehling L, Lee S, Smith R, Del Gaudio D, Withers M, Liu P, Cheung SW, Belmont JW, Zoghbi HY, Hastings PJ, Lupski JR. Carvalho CM, et al. Among authors: zoghbi hy. Nat Genet. 2011 Oct 2;43(11):1074-81. doi: 10.1038/ng.944. Nat Genet. 2011. PMID: 21964572 Free PMC article.
Rett syndrome and MeCP2: linking epigenetics and neuronal function.
Shahbazian MD, Zoghbi HY. Shahbazian MD, et al. Among authors: zoghbi hy. Am J Hum Genet. 2002 Dec;71(6):1259-72. doi: 10.1086/345360. Epub 2002 Nov 19. Am J Hum Genet. 2002. PMID: 12442230 Free PMC article. Review. No abstract available.
Generation and characterization of LANP/pp32 null mice.
Opal P, Garcia JJ, McCall AE, Xu B, Weeber EJ, Sweatt JD, Orr HT, Zoghbi HY. Opal P, et al. Among authors: zoghbi hy. Mol Cell Biol. 2004 Apr;24(8):3140-9. doi: 10.1128/MCB.24.8.3140-3149.2004. Mol Cell Biol. 2004. PMID: 15060138 Free PMC article.
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Matsuura T, et al. Among authors: zoghbi hy. Am J Hum Genet. 2004 Jun;74(6):1216-24. doi: 10.1086/421526. Epub 2004 May 4. Am J Hum Genet. 2004. PMID: 15127363 Free PMC article.
MeCP2 dysfunction in Rett syndrome and related disorders.
Moretti P, Zoghbi HY. Moretti P, et al. Among authors: zoghbi hy. Curr Opin Genet Dev. 2006 Jun;16(3):276-81. doi: 10.1016/j.gde.2006.04.009. Epub 2006 May 2. Curr Opin Genet Dev. 2006. PMID: 16647848 Review.
Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
del Gaudio D, Fang P, Scaglia F, Ward PA, Craigen WJ, Glaze DG, Neul JL, Patel A, Lee JA, Irons M, Berry SA, Pursley AA, Grebe TA, Freedenberg D, Martin RA, Hsich GE, Khera JR, Friedman NR, Zoghbi HY, Eng CM, Lupski JR, Beaudet AL, Cheung SW, Roa BB. del Gaudio D, et al. Among authors: zoghbi hy. Genet Med. 2006 Dec;8(12):784-92. doi: 10.1097/01.gim.0000250502.28516.3c. Genet Med. 2006. PMID: 17172942 Free article.
405 results