Structure and function of the human chromosome 15 imprinting center

Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome

1989 • 887 citations

Deletions of Chromosome 15 as a Cause of the Prader–Willi Syndrome

1981 • 615 citations

Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15

1995 • 606 citations

Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1989 • 575 citations

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

1994 • 430 citations

Allele-specific replication timing of imprinted gene regions

1993 • 385 citations

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 citations

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader–Willi syndrome critical region

1992 • 265 citations

The Frequency of Uniparental Disomy in Prader-Willi Syndrome

1992 • 260 citations

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

1996 • 257 citations

Identification of a novel paternally expressed gene in the Prader - Willi syndrome region

1994 • 243 citations

Is angelman syndrome an alternate result of del(15)(qllql3)?

1987 • 238 citations

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

1996 • 234 citations

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

1994 • 219 citations

A DNA methylation imprint, determined by the sex of the parent, distinguishes the angelman and Prader-Willi syndromes

1992 • 212 citations

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

1992 • 203 citations

Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region

1994 • 195 citations

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

1995 • 188 citations

Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.

1991 • 177 citations

Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

1996 • 176 citations

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11–q13): molecular diagnosis and mechanism of uniparental disomy

1993 • 174 citations

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance

1987 • 171 citations

Maternal imprinting of human SNRPN, a gene deleted in Prader–Willi syndrome

1994 • 163 citations

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis

1992 • 160 citations

Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patients

1993 • 142 citations

The association of Angelman's syndrome with deletions within 15q11-13.

1989 • 125 citations

Imprinting analysis of three genes in the Prader — Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E)

1994 • 123 citations

Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?

1994 • 122 citations

Maternal but not paternal transmission of 15q11–13–linked nondeletion Angelman syndrome leads to phenotypic expression

1992 • 100 citations

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN gene

1993 • 94 citations

Characterization of a methylation imprint in the Prader — Willi syndrome chromosome region

1993 • 89 citations

Tissue-specific and allele-specific replication timing control in the imprinted human Prader-Willi syndrome region.

1995 • 74 citations

Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences

1990 • 66 citations

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

1992 • 51 citations

Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect?

1993 • 50 citations

Detection of aberrant DNA methylation in unique Prader — Willi syndrome patients and its diagnostic implications

1994 • 49 citations

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

1992 • 48 citations

Linkage analysis in familial Angelman syndrome.

1993 • 45 citations

Replication asynchrony between homologs 15q11.2: Cytogenetic evidence for genomic imprinting

1991 • 41 citations

Molecular definition of the Prader — Willi syndrome chromosome region and orientation of the SNRPN gene

1993 • 40 citations

Familial Prader‐Willi syndrome with apparently normal chromosomes

1987 • 38 citations

Further evidence for dominant inheritance at the chromosome 15q11‐13 locus in familial angelman syndrome

1992 • 30 citations

Prader‐Willi syndrome in a brother and sister without cytogenetic or detectable molecular genetic abnormality at chromosome 15q11q13

1992 • 24 citations

Familial Prader-Willi Syndrome

1987 • 23 citations

Prader‐Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal Xq

1987 • 16 citations