R. Amir

发表

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

H. Zoghbi, U. Francke, R. Amir, 1999, Nature Genetics.

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

H. Zoghbi, R. Amir, 2000, American journal of medical genetics.

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

H. Zoghbi, D. Stockton, C. Bacino, 2000, American journal of human genetics.

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

H. Zoghbi, U. Francke, S. Naidu, 1999, American journal of human genetics.

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

H. Zoghbi, O. Lichtarge, A. Philippi, 2000, Annals of neurology.

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

H. Zoghbi, K. Hoon, R. Amir, 2000, American journal of human genetics.

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

H. Zoghbi, R. Amir, D. Glaze, 2005, Journal of Medical Genetics.

Newborn Screening and Prenatal Diagnosis for Rett Syndrome: Implications for Therapy

V. Sutton, R. Amir, I. B. Van den Veyver, 2005, Journal of child neurology.

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

H. Zoghbi, R. Amir, E. Dahle, 2000, American journal of medical genetics.