The Fragile-X Premutation: A Maturing Perspective

This publication has 80 references indexed in Scilit:

• Fragile-X–Associated Tremor/Ataxia Syndrome (FXTAS) in Females with the FMR1 Premutation
  American Journal of Human Genetics, 2004
• The (CGG)n repeat element within the 5' untranslated region of the FMR1 message provides both positive and negative cis effects on in vivo translation of a downstream reporter
  Human Molecular Genetics, 2003
• Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective
  American Journal of Medical Genetics Part A, 2002
• A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA
  Journal of Medical Genetics, 2001
• Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome
  American Journal of Human Genetics, 2000
• Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases
  Human Genetics, 1999
• Fragile X premutation is a significant risk factor for premature ovarian failure: The international collaborative POF in fragile X study?preliminary data
  American Journal of Medical Genetics, 1999
• Transmitting males and carrier females in fragile X–revisited
  American Journal of Medical Genetics, 1994
• Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
  Cell, 1991
• Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
  Published by Elsevier ,1991