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Article

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Nature genetics - 1 Sept 2005

Gicquel Christine, Rossignol Sylvie, Cabrol Sylvie, Houang Muriel, Steunou Virginie, Barbu Véronique, Danton Fabienne, Thibaud Nathalie, Le Merrer Martine, Burglen Lydie, Bertrand Anne-Marie, Netchine Irène, Le Bouc Yves

Abstract excerpt

Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial features and body asymmetry. SRS is genetically heterogenous with maternal uniparental disomy with respect to chromosome 7 occurring in approximately 10% of affected individuals. Given the crucial role of the 11p15 imprinted region in the control of fetal...

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Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16086014
DOI: 10.1038/ng1629

Genes

IGF2

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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.PMID 16086014Read ↗

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.Semantic proximity Read ↗

The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndromeSemantic proximity Read ↗

Epigenetic deregulation of imprinting in congenital diseases of aberrant growthSemantic proximity Read ↗

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndromeSemantic proximity Read ↗

Epigenetic and genetic diagnosis of Silver-Russell syndrome.Semantic proximity Read ↗

Epigenetic anomalies in childhood growth disorders.Semantic proximity Read ↗

Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes.Semantic proximity Read ↗

A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver-Russell syndrome phenotype.Semantic proximity Read ↗

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.Semantic proximity Read ↗

Epigenetic signatures of Silver–Russell syndrome: Table 1Semantic proximity Read ↗

Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver-Russell syndrome.Semantic proximity Read ↗

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?Semantic proximity Read ↗

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