Zobrazeno 1 - 3
of 3
pro vyhledávání: '"James M. Giron"'
Publikováno v:
Current Protocols in Human Genetics
This unit describes a PCR-based assay for distinguishing between the two X chromosomes in female cells and assessing the percentage of cells having each parental X chromosome active. Methylation of CpG residues in gene promoters is a major mechanism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a56bc2dfde034487df31f29980577e
https://pubmed.ncbi.nlm.nih.gov/18428349
https://pubmed.ncbi.nlm.nih.gov/18428349
Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy
Autor:
Eric P. Hoffman, James M. Giron
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d924f37a5db8d13e5e6aa317f14305c
https://doi.org/10.1385/1-59259-138-8:173
https://doi.org/10.1385/1-59259-138-8:173
Autor:
Sakku Bai Naidu, James M. Giron, J Schuette, C Scacheri, Michel Philippart, Joseph M. Devaney, N Sirianni, Vinodh Narayanan, Bonnie LaFleur, Kristen C. Hoffbuhr, J Innis, Eric P. Hoffman, R Umansky, Michael A. Marino, David Kronn
Publikováno v:
Scopus-Elsevier
Background: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. Methods: One hundred sixteen patients with classical and atypical RTT were studied for mutations of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd42c6736ac53fbadbca6550ee7ad8c4
https://pubmed.ncbi.nlm.nih.gov/11402105
https://pubmed.ncbi.nlm.nih.gov/11402105