Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes

CpG Islands in vertebrate genomes

1987 • 3,315 citations

Parental imprinting of the mouse insulin-like growth factor II gene

1991 • 1,773 citations

Role for DNA methylation in genomic imprinting

1994 • 1,695 citations

Parental imprinting of the mouse H19 gene

1991 • 1,192 citations

Number of CpG islands and genes in human and mouse.

1993 • 986 citations

Protein ubiquitination involving an E1–E2–E3 enzyme ubiquitin thioester cascade

1995 • 960 citations

CpG islands as gene markers in the human genome

1992 • 908 citations

DNA methylation and gene activity

1988 • 904 citations

Microfluorometric Detection of Deoxyribonucleic Acid Replication in Human Metaphase Chromosomes

1973 • 838 citations

Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour

1993 • 710 citations

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

1995 • 606 citations

Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal

1993 • 602 citations

DNA methylation affects the formation of active chromatin

1986 • 588 citations

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

1989 • 575 citations

Epigenetic mechanisms underlying the imprinting of the mouse H19 gene.

1993 • 493 citations

Substrate and sequence specificity of a eukaryotic DNA methylase

1982 • 441 citations

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

1994 • 430 citations

Parental-origin-specific epigenetic modification of the mouse H19 gene

1993 • 419 citations

A paternal–specific methylation imprint marks the alleles of the mouse H19 gene

1995 • 410 citations

Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation

1993 • 369 citations

Angelman syndrome: Consensus for diagnostic criteria

1995 • 368 citations

Two DNA methyltransferases from murine erythroleukemia cells: purification, sequence specificity, and mode of interaction with DNA.

1983 • 361 citations

DNA methylation and genomic imprinting

1994 • 349 citations

The ontogeny of allele-specific methylation associated with imprinted genes in the mouse.

1993 • 345 citations

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 citations

Parental imprinting: potentially active chromatin of the repressed maternal allele of the mouse insulin-like growth factor II (Igf2) gene.

1992 • 279 citations

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

1991 • 271 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

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome region

1992 • 243 citations

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

1994 • 243 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

Comparison of the 15q deletions in Prader‐Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1990 • 199 citations

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

1994 • 195 citations

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

1996 • 176 citations

Sequence of DNA replication in 277 R- and Q-bands of human chromosomes using a BrdU treatment

1976 • 165 citations

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader‐Willi syndrome

1989 • 164 citations

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

1994 • 163 citations

Functional imprinting and epigenetic modification of the human SNRPN gene

1993 • 158 citations

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

1990 • 149 citations

Igf2r and Igf2 gene expression in androgenetic, gynogenetic, and parthenogenetic preimplantation mouse embryos: absence of regulation by genomic imprinting.

1994 • 144 citations

X-chromosome inactivation: molecular mechanisms and genetic consequences

1994 • 141 citations

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

1994 • 123 citations

Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.

1992 • 123 citations

Maternal origin of 15q11–13 deletions in Angelman syndrome suggests a role for genomic imprinting

1990 • 120 citations

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome

1995 • 120 citations

Conservation of a maternal-specific methylation signal at the human IGF2R locus

1995 • 116 citations

Nondisjunction of chromosome 15: origin and recombination.

1993 • 109 citations

Molecular and clinical study of 61 Angelman syndrome patients

1994 • 104 citations

Parental imprinting of the Mas protooncogene in mouse

1994 • 104 citations

Mouse Chromosome 17

1992 • 101 citations

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

1997 • 101 citations

Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N.

1988 • 98 citations

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

1993 • 94 citations

Analysis of DNA replication during S-phase by means of dynamic chromosome banding at high resolution

1990 • 85 citations

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

1996 • 83 citations

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

1996 • 83 citations

Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse.

1993 • 80 citations

Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

1993 • 75 citations

Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome

1992 • 69 citations

Prader-Willi Syndrome

1998 • 69 citations

A comparison of snRNP-associated Sm-autoantigens: human N, rat N and human B/B′

1989 • 68 citations

The GABAA receptor β3 subunit gene: Characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7

1991 • 61 citations

The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons.

1992 • 51 citations

cDNA sequence of the rat U snRNP-associated protein N: description of a potential Sm epitope.

1989 • 44 citations

Cytogenetic and molecular analysis in Angelman syndrome

1993 • 40 citations

Ubiquitous expression and imprinting of Snrpn in the mouse

1995 • 32 citations

Difference in methylation patterns within the D15S9 region of chromosome 15qll–13 in first cousins with Angelman syndrome and Prader–Willi syndrome

1993 • 30 citations

The closely related small nuclear ribonucleoprotein polypeptides N and B/B' are distinguishable by antibodies as well as by differences in their mRNAs and gene structures.

1990 • 30 citations

Isolation of cDNA clones encoding small nuclear ribonucleoparticle-associated proteins with different tissue specificities.

1989 • 28 citations

Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

1996 • 25 citations

Genomic Imprinting in Humans

1994 • 23 citations

Regulated expression of the small nuclear ribonucleoprotein particle protein SmN in embryonic stem cell differentiation.

1990 • 20 citations

Deletion involving D15S113 in a mother and son without Angelman syndrome: Refinement of the Angelman syndrome critical deletion region

1995 • 12 citations

Impressions of imprints

1994 • 12 citations

Regulated Expression of the Small Nuclear Ribonucleoprotein Particle Protein SmN in Embryonic Stem Cell Differentiation

1990 • 9 citations

Chromosome breakage in Prader-Willi and Angelman syndrome deletions may involve recombination between a repeat at the proximal and distal breakpoints

1994 • 4 citations

Imprinting mechanisms and genes involved in Prader-Willi and Angelman syndromes

1994 • 3 citations