Zoghbi HY - Search Results

1

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.

Zhang W, Amir R, Stockton DW, Van Den Veyver IB, Bacino CA, Zoghbi HY. Zhang W, et al. Among authors: zoghbi hy. Am J Hum Genet. 2000 Apr;66(4):1461-4. doi: 10.1086/302868. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739772 Free PMC article.

2

Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome.

Van den Veyver IB, Subramanian S, Zoghbi HY. Van den Veyver IB, et al. Among authors: zoghbi hy. Am J Med Genet. 1998 Jun 30;78(2):179-81. doi: 10.1002/(sici)1096-8628(19980630)78:2<179::aid-ajmg17>3.3.co;2-3. Am J Med Genet. 1998. PMID: 9674913

3

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

4

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.

5

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Zhuchenko O, et al. Among authors: zoghbi hy. Nat Genet. 1997 Jan;15(1):62-9. doi: 10.1038/ng0197-62. Nat Genet. 1997. PMID: 8988170

6

Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22.

Van den Veyver IB, Cormier TA, Jurecic V, Baldini A, Zoghbi HY. Van den Veyver IB, et al. Among authors: zoghbi hy. Genomics. 1998 Jul 15;51(2):251-61. doi: 10.1006/geno.1998.5350. Genomics. 1998. PMID: 9722948

7

Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3.

Prakash SK, Van den Veyver IB, Franco B, Volta M, Ballabio A, Zoghbi HY. Prakash SK, et al. Among authors: zoghbi hy. Genomics. 1999 Jul 1;59(1):77-84. doi: 10.1006/geno.1999.5844. Genomics. 1999. PMID: 10395802

8

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

Wan M, Lee SS, Zhang X, Houwink-Manville I, Song HR, Amir RE, Budden S, Naidu S, Pereira JL, Lo IF, Zoghbi HY, Schanen NC, Francke U. Wan M, et al. Among authors: zoghbi hy. Am J Hum Genet. 1999 Dec;65(6):1520-9. doi: 10.1086/302690. Am J Hum Genet. 1999. PMID: 10577905 Free PMC article.

9

Candidate gene analysis in Rett syndrome and the identification of 21 SNPs in Xq.

Amir R, Dahle EJ, Toriolo D, Zoghbi HY. Amir R, et al. Among authors: zoghbi hy. Am J Med Genet. 2000 Jan 3;90(1):69-71. Am J Med Genet. 2000. PMID: 10602120

10

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

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