Mosaicism in fragile X affected males

Absence of expression of the FMR-1 gene in fragile X syndrome

1991 • 1,456 citations

Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n

1991 • 903 citations

The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

1993 • 763 citations

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

1991 • 637 citations

Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome

1993 • 387 citations

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

1993 • 343 citations

The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

1993 • 265 citations

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

1993 • 261 citations

Fragile X syndrome without CCG amplification has an FMR1 deletion

1992 • 219 citations

Mitotic stability of fragile X mutations in differentiated cells indicates early post–conceptional trinucleotide repeat expansion

1993 • 174 citations

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

1992 • 173 citations

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

1993 • 170 citations

Molecular heterogeneity of the fragile X syndrome

1991 • 105 citations

Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation

1993 • 70 citations

Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.

1992 • 21 citations