Imprinting in Angelman and Prader-Willi syndromes

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

UBE3A/E6-AP mutations cause Angelman syndrome

1997 • 1,270 citations

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

1995 • 960 citations

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

1997 • 847 citations

GENOMIC IMPRINTING IN MAMMALS

1997 • 641 citations

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication.

1997 • 639 citations

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

1995 • 606 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

Mice devoid of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior

1997 • 478 citations

Gametic Imprinting in Mammals

1995 • 444 citations

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

1994 • 430 citations

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1997 • 385 citations

A mouse model for Prader-Willi syndrome imprinting-centre mutations

1998 • 298 citations

A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element

1996 • 291 citations

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

1992 • 265 citations

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

1996 • 257 citations

The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

1997 • 247 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

Methylation-specif ic PCR simplifies imprinting analysis

1997 • 237 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

Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations

1997 • 204 citations

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

1997 • 195 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

PARENTAL IMPRINTING AND HUMAN DISEASE

1996 • 170 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 novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differentiated embryonal carcinoma cells

1991 • 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

Deficiency of the β3 subunit of the type A γ–aminobutyric acid receptor causes cleft palate in mice

1995 • 122 citations

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

1997 • 121 citations

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

1997 • 106 citations

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

1997 • 101 citations

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

1993 • 94 citations

A candidate model for angelman syndrome in the mouse

1997 • 93 citations

Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.

1992 • 91 citations

Arrest of Cell Growth by Necdin, a Nuclear-Protein Expressed in Postmitotic Neurons

1995 • 90 citations

Expression of necdin, an embryonal carcinoma-derived nuclear protein, in developing mouse brain

1992 • 88 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

Evidence for Uniparental, Paternal Expression of the Human GABAA Receptor Subunit Genes, Using Microcell-Mediated Chromosome Transfer

1997 • 81 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

Prader-Willi and Angelman syndromes: Diagnosis with a bisulfite-treated methylation-specific PCR method

1997 • 76 citations

Integrated YAC Contig Map of the Prader–Willi/Angelman Region on Chromosome 15q11–q13 with Average STS Spacing of 35 kb

1998 • 72 citations

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

1995 • 71 citations

Multiple roles for DNA methylation in gametic imprinting

1996 • 66 citations

Angelman syndrome

1995 • 61 citations

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

1997 • 58 citations

Imprinting mutations on human chromosome 15

1997 • 47 citations

Identification of a silencing element in the human 15q11-q13 imprinting center by using transgenicDrosophila

1998 • 38 citations

The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region.

1997 • 38 citations

The Mouse Necdin Gene Is Expressed from the Paternal Allele Only and Lies in the 7C Region of the Mouse Chromosome 7, a Region of Conserved Synteny to the Human Prader-Willi Syndrome Region

1997 • 31 citations

Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

1997 • 28 citations

DNA methylation patterns in human tissues of uniparental origin using a zinc-finger gene (ZNF127) from the Angelman/Prader-Willi region

1996 • 25 citations

Clonal heterogeneity at allelic methylation sites diagnostic for Prader–Willi and Angelman syndromes

1998 • 19 citations

Biochemical characterization of mouse brain necdin

1996 • 19 citations

Random and imprinted monoallelic expression

1996 • 16 citations

Imprint switch mechanism indicated by mutations in prader-willi and angelman syndromes

1997 • 13 citations

The elusive Angelman syndrome critical region.

1997 • 6 citations