Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Scott A. Merenstein"'
Autor:
Randi J Hagerman, William E. Sobesky, J. E. Riddle, Annette K. Taylor, Hieu X. Tran, Scott A. Merenstein
Publikováno v:
American Journal of Medical Genetics. 64:388-394
Fragile X syndrome is caused by an expansion of a CGG repeat in the FMR1 gene. The CGG repeat number of the FMR1 mutation and the percentage of cells with methylation of the gene were studied in 218 male patients. Physical and cognitive measurements
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca9ce8634856147c57a9150e0ef05f5c
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<388::aid-ajmg31>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<388::aid-ajmg31>3.0.co
Autor:
Randi J Hagerman, Vivian Shyu, Kellie A. Lugenbeel, David L. Nelson, Louise W. Staley, William E. Sobesky, Elizabeth Berry-Kravis, Annette K. Taylor, Bruce F. Pennington, Scott A. Merenstein
Publikováno v:
Journal of the American Academy of Child and Adolescent Psychiatry. 33(9)
The present case study features an adult male who was diagnosed with fragile X syndrome after the identification of this syndrome in his more affected brother. The patient presented with a Full Scale IQ within the broad range of normal and has been d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ffed4859947ef0a3479d3cd5cbf5ab4
https://pubmed.ncbi.nlm.nih.gov/7995799
https://pubmed.ncbi.nlm.nih.gov/7995799