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

Prader-Willi Syndrome: Consensus Diagnostic Criteria

1993 • 1,279 citations

The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

1992 • 1,269 citations

The product of the H19 gene may function as an RNA.

1990 • 1,066 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

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

1989 • 887 citations

Disruption of imprinting caused by deletion of the H19 gene region in mice

1995 • 765 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

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

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

1995 • 410 citations

Angelman syndrome: Consensus for diagnostic criteria

1995 • 368 citations

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 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

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

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

1992 • 212 citations

Prader-Willi syndrome

1972 • 207 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

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

1990 • 199 citations

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

1992 • 176 citations

Single pass sequencing and physical and genetic mapping of human brain cDNAs

1992 • 173 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

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

1990 • 161 citations

Functional imprinting and epigenetic modification of the human SNRPN gene

1993 • 158 citations

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

1993 • 142 citations

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

1991 • 136 citations

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

1994 • 123 citations

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

1990 • 120 citations

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome

1995 • 115 citations

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

1988 • 98 citations

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

1993 • 89 citations

Cloned human snRNP proteins B and B' differ only in their carboxy-terminal part.

1989 • 87 citations

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

1993 • 85 citations

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

1993 • 79 citations

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

1992 • 69 citations

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

1989 • 68 citations

Primary Structure of a Human Small Nuclear Ribonucleoprotein Polypeptide as Deduced by cDNA Analysis

1989 • 62 citations

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

1992 • 62 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

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

1993 • 40 citations

Unusual features of CpG-rich (HTF) Islands in the human α globin complex: association with non-functional pseudogenes and presence within the 3′ portion of the ζ gene

1987 • 40 citations

Ubiquitous expression and imprinting of Snrpn in the mouse

1995 • 32 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

Expression of the SmN Splicing Protein Is Developmentally Regulated in the Rodent Brain but Not in the Rodent Heart

1993 • 20 citations

Expression of the tissue specific splicing protein SmN in neuronal cell lines and in regions of the brain with different splicing capacities

1992 • 12 citations

Mice lackingSnrpn expression show normal regulation of neuronal alternative splicing events

1994 • 7 citations

A common insertion/deletion polymorphism in the Prader—Willi syndrome minimal critical region

1994 • 6 citations