(Q36227720)

12 August 2017

7 references

19 June 2019

30 June 2019

8 September 2019

14 September 2019

12 October 2019

30 April 2021

25 October 2022

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature (English)

1 reference

regulation of gene expression

12 August 2017

1 reference

8 September 2019

1 reference

14 September 2019

1 reference

12 October 2019

DNA copy number variations

1 reference

30 April 2021

Matthias Begemann

1

1 reference

12 August 2017

Sabrina Spengler

2

1 reference

12 August 2017

Magdalena Gogiel

3

1 reference

12 August 2017

Ute Grasshoff

4

1 reference

12 August 2017

Michael Bonin

5

1 reference

12 August 2017

Regina C Betz

6

1 reference

12 August 2017

Andreas Dufke

7

1 reference

12 August 2017

Isabel Spier

8

1 reference

12 August 2017

Thomas Eggermann

9

1 reference

12 August 2017

language of work or name

English

0 references

publication date

26 July 2012

1 reference

Journal of Medical Genetics

12 August 2017

1 September 2012

7 references

19 June 2019

30 June 2019

8 September 2019

14 September 2019

12 October 2019

30 April 2021

25 October 2022

8 references

12 August 2017

19 June 2019

30 June 2019

8 September 2019

14 September 2019

12 October 2019

30 April 2021

25 October 2022

49

1 reference

12 August 2017

9

1 reference

12 August 2017

547-553

1 reference

Creative Commons Attribution-NonCommercial

12 August 2017

7 references

19 June 2019

30 June 2019

8 September 2019

14 September 2019

12 October 2019

30 April 2021

25 October 2022

An 11p15 imprinting centre region 2 deletion in a family with Beckwith Wiedemann syndrome provides insights into imprinting control at CDKN1C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

Disturbed methylation at multiple imprinted loci: an increasing observation in imprinting disorders

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

The genetic aetiology of Silver-Russell syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

Beckwith-Wiedemann syndrome: multiple molecular mechanisms

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

Maternal uniparental heterodisomy of chromosome 6 in a boy with an isolated cleft lip and palate.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3439641

Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci

5 December 2018

1 reference

12 December 2020

Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor

1 reference

12 December 2020

Paternally inherited submicroscopic duplication at 11p15.5 implicates insulin-like growth factor II in overgrowth and Wilms' tumorigenesis

1 reference

12 December 2020

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome

1 reference

12 December 2020

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation

1 reference

12 December 2020

Segmental maternal uniparental disomy 7q associated with DLK1/GTL2 (14q32) hypomethylation

1 reference

12 December 2020

10.1136/JMEDGENET-2012-100967

Identifiers

DOI

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22844132

1 reference