Zoghbi HY - Search Results

1

An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.

Baker SA, Chen L, Wilkins AD, Yu P, Lichtarge O, Zoghbi HY. Baker SA, et al. Among authors: zoghbi hy. Cell. 2013 Feb 28;152(5):984-96. doi: 10.1016/j.cell.2013.01.038. Cell. 2013. PMID: 23452848 Free PMC article.

2

Karyopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.

Baker SA, Lombardi LM, Zoghbi HY. Baker SA, et al. Among authors: zoghbi hy. J Biol Chem. 2015 Sep 11;290(37):22485-93. doi: 10.1074/jbc.M115.658104. Epub 2015 Aug 5. J Biol Chem. 2015. PMID: 26245896 Free PMC article.

3

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.

Amir RE, Van den Veyver IB, Schultz R, Malicki DM, Tran CQ, Dahle EJ, Philippi A, Timar L, Percy AK, Motil KJ, Lichtarge O, Smith EO, Glaze DG, Zoghbi HY. Amir RE, et al. Among authors: zoghbi hy. Ann Neurol. 2000 May;47(5):670-9. Ann Neurol. 2000. PMID: 10805343

4

MECP2 disorders: from the clinic to mice and back.

Lombardi LM, Baker SA, Zoghbi HY. Lombardi LM, et al. Among authors: zoghbi hy. J Clin Invest. 2015 Aug 3;125(8):2914-23. doi: 10.1172/JCI78167. Epub 2015 Aug 3. J Clin Invest. 2015. PMID: 26237041 Free PMC article. Review.

5

Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations.

Shahbazian MD, Zoghbi HY. Shahbazian MD, et al. Among authors: zoghbi hy. Curr Opin Neurol. 2001 Apr;14(2):171-6. doi: 10.1097/00019052-200104000-00006. Curr Opin Neurol. 2001. PMID: 11262731 Review.

6

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Amir RE, et al. Among authors: zoghbi hy. Nat Genet. 1999 Oct;23(2):185-8. doi: 10.1038/13810. Nat Genet. 1999. PMID: 10508514

7

Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms.

Buyse IM, Fang P, Hoon KT, Amir RE, Zoghbi HY, Roa BB. Buyse IM, et al. Among authors: zoghbi hy. Am J Hum Genet. 2000 Dec;67(6):1428-36. doi: 10.1086/316913. Epub 2000 Oct 30. Am J Hum Genet. 2000. PMID: 11055898 Free PMC article.

8

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.

Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB. Amir RE, et al. Among authors: zoghbi hy. J Med Genet. 2005 Feb;42(2):e15. doi: 10.1136/jmg.2004.026161. J Med Genet. 2005. PMID: 15689438 Free PMC article. No abstract available.

9

Methyl-CpG-binding protein 2 mutations in Rett syndrome.

Van den Veyver IB, Zoghbi HY. Van den Veyver IB, et al. Among authors: zoghbi hy. Curr Opin Genet Dev. 2000 Jun;10(3):275-9. doi: 10.1016/s0959-437x(00)00083-6. Curr Opin Genet Dev. 2000. PMID: 10826991 Review.

10

Mutations in the gene encoding methyl-CpG-binding protein 2 cause Rett syndrome.

Van den Veyver IB, Zoghbi HY. Van den Veyver IB, et al. Among authors: zoghbi hy. Brain Dev. 2001 Dec;23 Suppl 1:S147-51. doi: 10.1016/s0387-7604(01)00376-x. Brain Dev. 2001. PMID: 11738862 Review.

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