Abstracts for the sixth international workshop on fragile X syndrome and X-linked mental retardation

1994 ◽  
Vol 51 (4) ◽  
pp. 606-614
1994 ◽  
Vol 51 (4) ◽  
pp. 281-293 ◽  
Author(s):  
Grant R. Sutherland ◽  
W. Ted Brown ◽  
Randi Hagerman ◽  
Ed Jenkins ◽  
Herbert Lubs ◽  
...  

Author(s):  
Jeanette J.A. Holden ◽  
Maire Percy ◽  
Diane Allingham-Hawkins ◽  
W. Ted Brown ◽  
Pietro Chiurazzi ◽  
...  

Author(s):  
Jean-Pierre Fryns ◽  
Martine Borghgraef ◽  
Ted W. Brown ◽  
Jamel Chelly ◽  
Gene S. Fisch ◽  
...  

PEDIATRICS ◽  
1996 ◽  
Vol 97 (1) ◽  
pp. 122-126
Author(s):  
Randi J. Hagerman ◽  
Louise W. Staley ◽  
Rebecca O'Conner ◽  
Kellie Lugenbeel ◽  
David Nelson ◽  
...  

There is a broad spectrum of clinical involvement in both boys and girls affected by fragile X syndrome. Although this disorder is best known as the most common inherited cause of mental retardation, it also can manifest as learning disabilities in individuals with IQs in the broad range of normal. Boys are usually retarded, and girls are usually learning disabled with fragile X syndrome.1 The responsible gene, fragile X mental retardation 1 (FMR1), was isolated in 1991, and the mutation was found to involve expansion of a trinucleotide (CGG) repeat segment. Individuals with fragile X syndrome have a CGG expansion of more than 200 repeats associated with hypermethylation of both the expansion and an adjacent CpG island (full mutation).2,3


2018 ◽  
Vol 13 (6) ◽  
pp. 464-468 ◽  
Author(s):  
Peyman Hadi ◽  
Karimeh Haghani ◽  
Ali Noori-Zadeh ◽  
Salar Bakhtiyari

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