(Q80533215)

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MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment

scientific article published on 23 January 2008

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Europe PubMed Central

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1 January 2020

MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment (English)

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Europe PubMed Central

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1 January 2020

2

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1 January 2020

6

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1 January 2020

Carmelo Laganà

5

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Carmelo Laganà

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1 January 2020

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Manuela Priolo

1

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1 January 2020

Corrado Mammì

3

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1 January 2020

Flavia Cerrato

4

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1 January 2020

publication date

23 January 2008

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1 January 2020

European Journal of Human Genetics

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1 January 2020

16

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1 January 2020

5

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1 January 2020

565-571

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1 January 2020

Mechanisms regulating imprinted genes in clusters.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Growth regulation, imprinted genes, and chromosome 11p15.5.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5202001

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5202001

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18212817%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18212817%20AND%20SRC:MED&resulttype=core&format=json

1 January 2020

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