Amir RE - Search Results

1

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: amir re. Am J Hum Genet. 1999 Dec;65(6):1520-9. doi: 10.1086/302690. Am J Hum Genet. 1999. PMID: 10577905 Free PMC article.

2

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. Nat Genet. 1999 Oct;23(2):185-8. doi: 10.1038/13810. Nat Genet. 1999. PMID: 10508514

3

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: amir re. 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.

4

Rett syndrome: methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations.

Amir RE, Zoghbi HY. Amir RE, et al. Am J Med Genet. 2000 Summer;97(2):147-52. doi: 10.1002/1096-8628(200022)97:2<147::aid-ajmg6>3.0.co;2-o. Am J Med Genet. 2000. PMID: 11180222 Review.

5

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. Am J Med Genet. 2000 Jan 3;90(1):69-71. Am J Med Genet. 2000. PMID: 10602120

6

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. 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.

7

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. 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.

8

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. Ann Neurol. 2000 May;47(5):670-9. Ann Neurol. 2000. PMID: 10805343

9

Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy.

Amir RE, Sutton VR, Van den Veyver IB. Amir RE, et al. J Child Neurol. 2005 Sep;20(9):779-83. doi: 10.1177/08830738050200091401. J Child Neurol. 2005. PMID: 16225835 Review.

10

Genotype-phenotype associations between chymase and angiotensin-converting enzyme gene polymorphisms in chronic systolic heart failure patients.

Amir RE, Amir O, Paz H, Sagiv M, Mor R, Sagiv M, Lewis BS. Amir RE, et al. Genet Med. 2008 Aug;10(8):593-8. doi: 10.1097/gim.0b013e3181804b9c. Genet Med. 2008. PMID: 18641516

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