Direct DNA analysis of fragile X syndrome in Spanish pedigrees

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1991 • 3,422 citations

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

1991 • 1,482 citations

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

1991 • 903 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 citations

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

1991 • 637 citations

Fragile Sites on Human Chromosomes: Demonstration of Their Dependence on the Type of Tissue Culture Medium

1977 • 524 citations

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

1991 • 213 citations

Isolation of Sequences that Span the Fragile X and Identification of a Fragile X-Related CpG Island

1991 • 174 citations

A New DNA Marker Tightly Linked to the Fragile X Locus ( FRAXA )

1989 • 61 citations

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

1988 • 53 citations

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

1991 • 45 citations

The enigma of the fragile X chromosome

1985 • 40 citations