Zoghbi HY - Search Results

1

Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.

Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Ramocki MB, et al. Among authors: zoghbi hy. Ann Neurol. 2009 Dec;66(6):771-82. doi: 10.1002/ana.21715. Ann Neurol. 2009. PMID: 20035514 Free PMC article.

2

Genetic aspects of Rett syndrome.

Zoghbi H. Zoghbi H. J Child Neurol. 1988;3 Suppl:S76-8. doi: 10.1177/0883073888003001s15. J Child Neurol. 1988. PMID: 3058791 Review.

3

Rett syndrome: a prototypical neurodevelopmental disorder.

Neul JL, Zoghbi HY. Neul JL, et al. Among authors: zoghbi hy. Neuroscientist. 2004 Apr;10(2):118-28. doi: 10.1177/1073858403260995. Neuroscientist. 2004. PMID: 15070486 Review.

4

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.

5

Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

Collins AL, Levenson JM, Vilaythong AP, Richman R, Armstrong DL, Noebels JL, David Sweatt J, Zoghbi HY. Collins AL, et al. Among authors: zoghbi hy. Hum Mol Genet. 2004 Nov 1;13(21):2679-89. doi: 10.1093/hmg/ddh282. Epub 2004 Sep 6. Hum Mol Genet. 2004. PMID: 15351775

6

MeCP2 dysfunction in humans and mice.

Zoghbi HY. Zoghbi HY. J Child Neurol. 2005 Sep;20(9):736-40. doi: 10.1177/08830738050200090701. J Child Neurol. 2005. PMID: 16225828 Review.

7

Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2.

Young JI, Hong EP, Castle JC, Crespo-Barreto J, Bowman AB, Rose MF, Kang D, Richman R, Johnson JM, Berget S, Zoghbi HY. Young JI, et al. Among authors: zoghbi hy. Proc Natl Acad Sci U S A. 2005 Dec 6;102(49):17551-8. doi: 10.1073/pnas.0507856102. Epub 2005 Oct 26. Proc Natl Acad Sci U S A. 2005. PMID: 16251272 Free PMC article.

8

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.

9

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.

10

ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.

Lam YC, Bowman AB, Jafar-Nejad P, Lim J, Richman R, Fryer JD, Hyun ED, Duvick LA, Orr HT, Botas J, Zoghbi HY. Lam YC, et al. Among authors: zoghbi hy. Cell. 2006 Dec 29;127(7):1335-47. doi: 10.1016/j.cell.2006.11.038. Cell. 2006. PMID: 17190598 Free article.

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