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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.
Genetic basis of Rett syndrome.
Van den Veyver IB, Zoghbi HY. Van den Veyver IB, et al. Among authors: zoghbi hy. Ment Retard Dev Disabil Res Rev. 2002;8(2):82-6. doi: 10.1002/mrdd.10025. Ment Retard Dev Disabil Res Rev. 2002. PMID: 12112732 Review.
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.
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.
405 results