Imprinting in Prader–Willi and Angelman syndromes

Role for DNA methylation in genomic imprinting

1994 • 1,695 citations

UBE3A/E6-AP mutations cause Angelman syndrome

1997 • 1,270 citations

The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus

1992 • 983 citations

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

1995 • 960 citations

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

1989 • 887 citations

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

1997 • 847 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

Imprinted expression of the Igf2r gene depends on an intronic CpG island

1997 • 578 citations

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

1993 • 537 citations

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

1997 • 495 citations

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

1994 • 430 citations

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

1995 • 410 citations

Allele-specific replication timing of imprinted gene regions

1993 • 385 citations

Protein Degradation or Regulation: Ub the Judge

1996 • 275 citations

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

1996 • 257 citations

Peg3 imprinted gene on proximal chromosome 7 encodes for a zinc finger protein

1996 • 252 citations

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

1994 • 243 citations

Homologous Association of Oppositely Imprinted Chromosomal Domains

1996 • 238 citations

Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome

1997 • 237 citations

Methylation-specif ic PCR simplifies imprinting analysis

1997 • 237 citations

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

1996 • 234 citations

The Necdin Gene is Deleted in Prader-Willi Syndrome and is Imprinted in Human and Mouse

1997 • 230 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

Organization and sequence of the human P gene and identification of a new family of transport proteins

1995 • 197 citations

Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern

1997 • 195 citations

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

1995 • 188 citations

Drosophila Polycomb-group regulated chromatin inhibits the accessibility of a trans-activator to its target DNA.

1995 • 187 citations

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

1996 • 176 citations

A candidate mouse model for Prader–Willi syndrome which shows an absence of Snrpn expression

1992 • 176 citations

A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.

1997 • 163 citations

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

1997 • 150 citations

A Single-Tube PCR Test for the Diagnosis of Angelman and Prader-Willi Syndrome Based on Allelic Methylation Differences at the SNRPN Locus

1997 • 145 citations

Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method

1997 • 143 citations

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

1993 • 142 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

The HumanE6-APGene (UBE3A) Encodes Three Potential Protein Isoforms Generated by Differential Splicing

1997 • 121 citations

Imprinting of Igf2 and H19 from a 130 kb YAC transgene

1997 • 108 citations

An imprinting element from the mouse H19 locus functions as a silencer in Drosophila

1997 • 106 citations

An Imprinted Mouse Transcript Homologous to the Human Imprinted in Prader-Willi Syndrome (IPW) Gene

1997 • 105 citations

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

1997 • 101 citations

Imprinting: a gamete's point of view

1994 • 95 citations

A candidate model for angelman syndrome in the mouse

1997 • 93 citations

Parental Imprinting of Genes

1990 • 84 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 analysis of 36 mutations at the mouse pink-eyed dilution (p) locus.

1995 • 71 citations

Different Mechanisms and Recurrence Risks of Imprinting Defects in Angelman Syndrome

1997 • 65 citations

X Chromosome Inactivation, XIST, and Pursuit of the X-Inactivation Center

1996 • 64 citations

Balanced Translocation 46, XY, t(2;15)(q37.2;q11.2) Associated with Atypical Prader-Willi Syndrome

1997 • 58 citations

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.

1996 • 55 citations

Genomic Imprinting, DNA Methylation, and Cancer

1994 • 53 citations

Genomic Imprinting, DNA Methylation, and Cancer

1994 • 48 citations

Ubiquitous expression and imprinting of Snrpn in the mouse

1995 • 32 citations

Genomic Imprinting in Humans

1994 • 23 citations

Ubiquitin–mediated proteolysis and male sterility

1996 • 13 citations