Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

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

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

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 citations

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

1993 • 763 citations

DNA methylation represses FMR-1 transcription in fragile X syndrome

1992 • 665 citations

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

1993 • 632 citations

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

1993 • 619 citations

Molecular Mapping of Twenty-Four Features of Down Syndrome on Chromosome 21

1993 • 448 citations

Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome

1994 • 442 citations

Continuum of overlapping clones spanning the entire human chromosome 21q

1992 • 393 citations

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

1993 • 387 citations

Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

1991 • 357 citations

Parental Origin of the Extra Chromosome in Trisomy 21 as Indicated by Analysis of DNA Polymorphisms

1991 • 278 citations

Subunit promiscuity among hemopoietic growth factor receptors

1991 • 273 citations

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

1993 • 272 citations

Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

1989 • 261 citations

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG–repeat

1993 • 257 citations

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

1990 • 241 citations

Fragile X syndrome without CCG amplification has an FMR1 deletion

1992 • 219 citations

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

1991 • 213 citations

Molecular genetic approach to the characterization of the ?Down syndrome region? of chromosome 21

1989 • 195 citations

Fine structure of the human FMR1 gene

1993 • 186 citations

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

1992 • 183 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

Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis.

1992 • 173 citations

Trisomy 21: association between reduced recombination and nondisjunction.

1991 • 169 citations

Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization.

1991 • 169 citations

Protocols to establish genotype-phenotype correlations in Down syndrome.

1991 • 149 citations

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

1993 • 147 citations

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

1991 • 141 citations

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

1994 • 132 citations

Precursor arrays for triplet repeat expansion at the fragile X locus

1994 • 124 citations

Molecular heterogeneity of the fragile X syndrome

1991 • 105 citations

Molecular confirmation of Wolf-Hirschhorn syndrome with a subtle translocation of chromosome 4.

1991 • 103 citations

Minireview: cryptic translocations and telomere integrity.

1992 • 84 citations

KH domains within the FMR1 sequence suggest that fragile X syndrome stems from a defect in RNA metabolism

1993 • 68 citations

A Linkage Map of Human Chromosome 21: 43 PCR Markers at Average Intervals of 2.5 cM

1993 • 62 citations

Comparative study of microsatellite and cytogenetic markers for detecting the origin of the nondisjoined chromosome 21 in Down syndrome.

1992 • 55 citations

Origins of the fragile X syndrome mutation.

1993 • 54 citations

Genotype prediction in the fragile X syndrome.

1991 • 41 citations

A YAC contig across the fragile X site defines the region of fragility

1991 • 41 citations

In Vitro DNA Methylation Inhibits FMR-1 Promoter

1993 • 40 citations

Detection of subtle reciprocal translocations by fluorescence in situ hybridization

1992 • 40 citations

Down syndrome due to de novo Robertsonian translocation t(14q;21q): DNA polymorphism analysis suggests that the origin of the extra 21q is maternal.

1991 • 35 citations

Report of the fourth international workshop on human chromosome 21

1993 • 34 citations

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3–q28 (DXS1113)

1993 • 17 citations

Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization

1992 • 11 citations

High resolution replication banding combined with in situ hybridization for the delineation of a subtle chromosome rearrangement

1991 • 7 citations

Molecular analysis of a ring chromosome X in a family with fragile X syndrome

1993 • 5 citations

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