(Q35097522)

English

A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

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A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith-Wiedemann syndrome (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

8

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Agostina De Crescenzo

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Filomena Coppola

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Pietro Falco

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Italo Bernardo

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Gaetano Ausanio

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Flavia Cerrato

6

1 reference

Europe PubMed Central

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1 February 2020

Luigi Falco

7

1 reference

Europe PubMed Central

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1 February 2020

publication date

4 May 2011

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1 February 2020

European Journal of Medical Genetics

1 reference

Europe PubMed Central

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1 February 2020

54

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Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

4

1 reference

Europe PubMed Central

PMC publication ID

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1 February 2020

e451-4

1 reference

Europe PubMed Central

PMC publication ID

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1 February 2020

Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133689

9 July 2018

Genomic imprinting: employing and avoiding epigenetic processes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133689

9 July 2018

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133689

9 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133689

27 September 2018

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133689

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133689

27 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3133689

27 September 2018

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

1 reference

https://pubmed.ncbi.nlm.nih.gov/21571108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Wilms tumor and constitutional epigenetic defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/21571108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/21571108

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.EJMG.2011.04.009

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21571108%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

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