The molecular basis of fragile sites in human chromosomes

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

1991 • 1,482 citations

Informativeness of human (dC-dA)n · (dG-dT)n polymorphisms

1990 • 1,371 citations

A point mutation in the FMR-1 gene associated with fragile X mental retardation

1993 • 619 citations

DNA polymerase ? inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes

1984 • 581 citations

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

1993 • 522 citations

Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.

1979 • 488 citations

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1994 • 472 citations

The marker (X) syndrome: a cytogenetic and genetic analysis

1984 • 390 citations

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles

1994 • 357 citations

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

1993 • 343 citations

Simple tandem DNA repeats and human genetic disease.

1995 • 340 citations

Dynamic mutations: A new class of mutations causing human disease

1992 • 315 citations

Simple repeat DNA is not replicated simply

1994 • 314 citations

Fragile-X syndrome: unique genetics of the heritable unstable element.

1992 • 201 citations

Proposed Mechanism of Inheritance and Expression of the Human Fragile-X Syndrome of Mental Retardation

1987 • 190 citations

Evidence of founder chromosomes in fragile X syndrome

1992 • 187 citations

Chromosome breakage and recombination at fragile sites.

1988 • 176 citations

Clinical and molecular characterization of patients with distal 11q deletions.

1995 • 174 citations

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

1994 • 167 citations

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

1994 • 156 citations

Human genes containing polymorphic trinucleotide repeats

1992 • 151 citations

Implications of FRA16A Structure for the Mechanism of Chromosomal Fragile Site Genesis

1994 • 140 citations

Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins

1993 • 132 citations

Precursor arrays for triplet repeat expansion at the fragile X locus

1994 • 124 citations

The Fragile X Site in Somatic Cell Hybrids: An Approach for Molecular Cloning of Fragile Sites

1987 • 116 citations

Preferential integration of marker DNA into the chromosomal fragile site at 3p14: an approach to cloning fragile sites.

1991 • 109 citations

FRAXE and mental retardation.

1995 • 96 citations

Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3

1994 • 95 citations

New classes of common fragile sites induced by 5-azacytidine and bromodeoxyuridine

1985 • 86 citations

The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter

1994 • 70 citations

Multicolor FISH Mapping of YAC Clones in 3p14 and Identification of a YAC Spanning both FRA3B and the t(3;8) Associated with Hereditary Renal Cell Carcinoma

1994 • 62 citations

The fragile site (16) (q22)

1986 • 43 citations

Molecular basis of p(CCG)n repeat instability at the FRA16A fragile site locus

1995 • 39 citations

Advanced techniques in chromosome research

1991 • 36 citations

Integrated YAC contig containing the 3pl4.2 hereditary renal carcinoma 3;8 translocation breakpoint and the fragile site FRA3B

1994 • 33 citations

Heritable fragile sites on human chromosomes. IX. Population cytogenetics and segregation analysis of the BrdU-requiring fragile site at 10q25.

1982 • 33 citations

Nature of distamycin A-inducible fragile sites

1988 • 16 citations

Unusual behaviour of a human autosome having two rare folate sensitive fragile sites.

1993 • 9 citations

A new folate sensitive fragile site at 1p21.3.

1991 • 9 citations

Molecular characterization of the 3p14.2 constitutive fragile site

1994 • 4 citations