Zoghbi HY - Search Results

1

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

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

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

4

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

Lindsay EA, Grillo A, Ferrero GB, Roth EJ, Magenis E, Grompe M, Hultén M, Gould C, Baldini A, Zoghbi HY, et al. Lindsay EA, et al. Among authors: zoghbi hy. Am J Med Genet. 1994 Jan 15;49(2):229-34. doi: 10.1002/ajmg.1320490214. Am J Med Genet. 1994. PMID: 8116674

5

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.

6

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.

7

Analysis of Mid1, Hccs, Arhgap6, and Msl3l1 in X-linked polydactyly (Xpl) and Patchy-fur (Paf) mutant mice.

Cormier TA, Prakash SK, Magner DB, Zoghbi HY, Van den Veyver IB. Cormier TA, et al. Among authors: zoghbi hy. Mamm Genome. 2001 Oct;12(10):796-8. doi: 10.1007/s00335-001-1006-5. Mamm Genome. 2001. PMID: 11668396 No abstract available.

8

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.

9

Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.

Schaefer L, Prakash S, Zoghbi HY. Schaefer L, et al. Among authors: zoghbi hy. Genomics. 1997 Dec 1;46(2):268-77. doi: 10.1006/geno.1997.5040. Genomics. 1997. PMID: 9417914

10

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

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