(Q34281844)

1 August 2017

title

Epigenetic and genetic diagnosis of Silver-Russell syndrome (English)

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1 August 2017

Thomas Eggermann

1

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1 August 2017

Sabrina Spengler

2

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1 August 2017

Magdalena Gogiel

3

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1 August 2017

Matthias Begemann

4

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1 August 2017

Miriam Elbracht

5

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1 August 2017

publication date

1 June 2012

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Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

1 August 2017

published in

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1 August 2017

volume

12

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1 August 2017

issue

5

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1 August 2017

page(s)

459-471

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The genetic aetiology of Silver-Russell syndrome

1 August 2017

cites work

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Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies

21 January 2018

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Epigenotype-phenotype correlations in Silver-Russell syndrome

21 January 2018

1 reference

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

21 January 2018

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Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation

21 January 2018

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Genomic imprinting: parental influence on the genome

21 January 2018

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Mechanisms of imprint dysregulation

21 January 2018

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Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

21 January 2018

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Chromatin mechanisms in genomic imprinting

21 January 2018

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Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

21 January 2018

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Maternal uniparental disomy 7 in Silver-Russell syndrome

21 January 2018

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Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

21 January 2018

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Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32

21 January 2018

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Epigenetic signatures of Silver-Russell syndrome.

21 January 2018

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Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

21 January 2018

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

21 January 2018

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The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome

21 January 2018

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Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

21 January 2018

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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

21 January 2018

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ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome

21 January 2018

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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

21 January 2018

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Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations

21 January 2018

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No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

21 January 2018

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Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

21 January 2018

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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

21 January 2018

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Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

21 January 2018

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Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome.

21 January 2018

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Hunting for the 5th base: Techniques for analyzing DNA methylation

21 January 2018

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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

21 January 2018

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Silver-Russell syndrome: genetic basis and molecular genetic testing

21 January 2018

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Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1586/ERM.12.43

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1 August 2017

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