A model system to study genomic imprinting of human genes

Reactivation of an Inactive Human X Chromosome: Evidence for X Inactivation by DNA Methylation

1981 • 711 citations

The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression

1993 • 692 citations

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

1997 • 478 citations

Imprinting in Prader–Willi and Angelman syndromes

1998 • 451 citations

DIFFERENTIAL IMPRINTING AND EXPRESSION OF MATERNAL AND PATERNAL GENOMES

1988 • 451 citations

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

1994 • 430 citations

Parental genomic imprinting of the human IGF2 gene

1993 • 422 citations

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

1995 • 410 citations

Monoallelic expression of the human H19 gene

1992 • 409 citations

An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome

1996 • 390 citations

The human X-inactivation centre is not required for maintenance of X-chromosome inactivation

1994 • 286 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

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

1997 • 247 citations

Multiple Mechanisms Regulate Imprinting of the Mouse Distal Chromosome 7 Gene Cluster

1998 • 245 citations

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

1994 • 243 citations

The insulin–like growth factor type–2 receptor gene is imprinted in the mouse but not in humans

1993 • 238 citations

Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome

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

Identification of an imprinted U2af binding protein related sequence on mouse chromosome 11 using the RLGS method

1994 • 219 citations

Identification of Grf1 on mouse chromosome 9 as an imprinted gene by RLGS–M

1996 • 195 citations

Expression of Genes from the Human Active and Inactive X Chromosomes

1997 • 188 citations

Autosomal and X-chromosome imprinting

1990 • 176 citations

Mosaic and polymorphic imprinting of the WT1 gene in humans

1994 • 172 citations

Histone acetylation: facts and questions

1994 • 170 citations

Functional imprinting and epigenetic modification of the human SNRPN gene

1993 • 158 citations

Mutation Analysis of UBE3A in Angelman Syndrome Patients

1998 • 150 citations

Genomic imprinting of human p57KIP2 and its reduced expression in Wilms' tumors

1996 • 139 citations

Human gene mapping using an X/autosome translocation

1976 • 135 citations

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway

1996 • 127 citations

Transcriptional Activation of the Epstein-Barr Virus Latency C Promoter after 5-Azacytidine Treatment: Evidence that Demethylation at a Single CpG Site Is Crucial

1995 • 125 citations

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

1995 • 122 citations

Engineering herpes simplex virus vectors for gene transfer to neurons

1997 • 107 citations

Selective maternal-allele loss in human lung cancers of the maternally expressed p57(KIP2) gene at 11p15.5

1996 • 104 citations

Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice.

1994 • 102 citations

IMPT1, an imprinted gene similar to polyspecific transporter and multi- drug resistance genes

1998 • 101 citations

CD81 on B cells promotes interleukin 4 secretion and antibody production during T helper type 2 immune responses

1998 • 101 citations

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

1993 • 89 citations

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

1992 • 88 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

Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblast.

1993 • 79 citations

Reduced expression of the cyclin-dependent kinase inhibitor gene p57KIP2 in Wilms' tumor.

1996 • 74 citations

Divergently Transcribed Overlapping Genes Expressed in Liver and Kidney and Located in the 11p15.5 Imprinted Domain

1998 • 68 citations

A 1-Mb Physical Map and PAC Contig of the Imprinted Domain in 11p15.5 That Contains TAPA1 and the BWSCR1/WT2 Region

1997 • 66 citations

Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15.

1992 • 62 citations

Allele-specific in situ hybridization (ASISH) analysis: a novel technique which resolves differential allelic usage of H19 within the same cell lineage during human placental development

1996 • 61 citations

Human X-Linked genes regionally mapped utilizing X-autosome translocations and somatic cell hybrids.

1975 • 61 citations

Equivalent expression of paternally and maternally inherited WT1 alleles in normal fetal tissue and Wilms' tumours.

1992 • 53 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

Established Epigenetic Modifications Determine the Expression of Developmentally Regulated Globin Genes in Somatic Cell Hybrids

1995 • 21 citations

Gene on short arm of human X chromosome complements murine tsA1S9 DNA synthesis mutation

1989 • 21 citations

Isolation of monochromosomal hybrids following fusion of human diploid fibroblast-derived microcells with mouse A9 cells

1992 • 14 citations

Single nucleotide dimorphism in the transcribed region of the SNRPN gene at 15q12

1994 • 8 citations

The human ribonuclease/angiogenin inhibitor is encoded by a gene mapped to chromosome 11p15.5, within 90 kb of the HRAS protooncogene

1992 • 5 citations