Analysis of germline CDKN1C (p57^KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene.

1995 • 956 citations

Cloning of p57KIP2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution.

1995 • 910 citations

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

1995 • 765 citations

Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome

1997 • 753 citations

Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour

1993 • 710 citations

Role of paternal and maternal genomes in mouse development

1984 • 704 citations

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

1995 • 606 citations

Loss of imprinting of IGF2 is linked to reduced expression and abnormal methylation of H19 in Wilms' tumour

1994 • 466 citations

Familial Wiedemann-Beckwith syndrome and a second Wilms tumor locus both map to 11p15.5.

1989 • 448 citations

Gametic Imprinting in Mammals

1995 • 444 citations

Uniparental paternal disomy in a genetic cancer-predisposing syndrome

1991 • 432 citations

Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome

1993 • 427 citations

An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome

1996 • 390 citations

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements

1997 • 354 citations

Transactivation of Igf2 in a mouse model of Beckwith–Wiedemann syndrome

1997 • 325 citations

Genetic linkage of Beckwith-Wiedemann syndrome to 11p15.

1989 • 306 citations

Imprinting of the gene encoding a human cyclin-dependent kinase inhibitor, p57KIP2, on chromosome 11p15.

1996 • 302 citations

Genomic imprinting of p57KIP2, a cyclin–dependent kinase inhibitor, in mouse

1995 • 288 citations

Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome

1997 • 237 citations

Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the IGF2–H19 domain

1995 • 215 citations

Beckwith-Wiedemann syndrome.

1994 • 184 citations

Low Frequency of p57KIP2 Mutation in Beckwith-Wiedemann Syndrome

1997 • 141 citations

Coding Mutations in p57 Are Present in Some Cases of Beckwith-Wiedemann Syndrome but Are Rare or Absent in Wilms Tumors

1997 • 140 citations

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

1996 • 139 citations

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

1996 • 127 citations

Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith- Wiedemann syndrome

1997 • 126 citations

Syntenic Organization of the Mouse Distal Chromosome 7 Imprinting Cluster and the Beckwith-Wiedemann Syndrome Region in Chromosome 11p15.5

1998 • 109 citations

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

1996 • 104 citations

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

1993 • 97 citations

New p57 KIP2 mutations in Beckwith-Wiedemann syndrome

1997 • 96 citations

Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

1994 • 94 citations

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome.

1997 • 94 citations

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

1997 • 93 citations

Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome

1992 • 52 citations

Cyclin-dependent kinase inhibitor p57KIP2 in soft tissue sarcomas and Wilms'tumors.

1996 • 40 citations

Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3

1995 • 19 citations

Deleted Work

1955 • 0 citations