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

A Laboratory manual

1989 • 6,833 citations

Manipulating the mouse embryo: A laboratory manual

1986 • 4,548 citations

Simplified mammalian DNA isolation procedure

1991 • 1,508 citations

Prader-Willi Syndrome: Consensus Diagnostic Criteria

1993 • 1,279 citations

UBE3A/E6-AP mutations cause Angelman syndrome

1997 • 1,270 citations

Antibodies to small nuclear RNAs complexed with proteins are produced by patients with systemic lupus erythematosus

1979 • 1,178 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

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

1989 • 575 citations

Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20.

1993 • 469 citations

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

1994 • 430 citations

Structure and Function of Major and Minor Small Nuclear Ribonucleoprotein Particles

1988 • 363 citations

Uniparental paternal disomy in Angelman's syndrome

1991 • 332 citations

Functions of the Abundant U-snRNPs

1988 • 284 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

snRNP Sm proteins share two evolutionarily conserved sequence motifs which are involved in Sm protein-protein interactions.

1995 • 248 citations

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

1994 • 243 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

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

1990 • 199 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

Angelman syndrome.

1992 • 167 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

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

1991 • 150 citations

Expression and methylation of imprinted genes during in vitro differentiation of mouse parthenogenetic and androgenetic embryonic stem cell lines

1994 • 145 citations

3. Teratocarcinomas and Embryonic Stem Cells

2016 • 141 citations

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

1990 • 120 citations

Structure and Expression of the Mouse Necdin Gene

1996 • 107 citations

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

1997 • 105 citations

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

1988 • 98 citations

Subtractive hybridization system using single-stranded phagemids with directional inserts

1990 • 88 citations

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

1996 • 83 citations

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

1992 • 69 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

The genomic sequencing technique.

1985 • 31 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