DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR‐1 gene

This publication has 20 references indexed in Scilit:

• Cytogenetic versus DNA diagnosis in routine referrais for fragile X syndrome
  The Lancet, 1993
• Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.
  Journal of Medical Genetics, 1993
• Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipation
  American Journal of Medical Genetics, 1993
• A point mutation in the FMR-1 gene associated with fragile X mental retardation
  Nature Genetics, 1993
• Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype
  Human Molecular Genetics, 1992
• Fragile X syndrome without CCG amplification has an FMR1 deletion
  Nature Genetics, 1992
• Limited size of the fragile X site shown by fluorescence in situ hybridization
  American Journal of Medical Genetics, 1992
• Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
  Cell, 1991
• Absence of expression of the FMR-1 gene in fragile X syndrome
  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