Multiplex Ligation-Dependent Probe Amplification (MLPA®) for the Detection of Copy Number Variation in Genomic Sequences (Q85181743)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20938835%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Multiplex Ligation-dependent Probe Amplification (MLPA®) for the detection of copy number variation in genomic sequences (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20938835%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Multiplex Ligation-Dependent Probe Amplification (MLPA®) for the Detection of Copy Number Variation in Genomic Sequences (English)

1 reference

https://api.crossref.org/works/10.1007/978-1-60761-947-5_8

31 July 2024

author name string

Petra G. C. Eijk-Van Os

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20938835

31 July 2024

Jan P. Schouten

2

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31 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20938835

31 July 2024

publication date

1 January 2011

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20938835%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

15 February 2020

https://link.springer.com/content/pdf/10.1007/978-1-60761-947-5_8

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Methods in Molecular Biology

31 July 2024

published in

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15 February 2020

volume

688

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15 February 2020

page(s)

97-126

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

15 February 2020

cites work

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High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

31 July 2024

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31 July 2024

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31 July 2024

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BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension

31 July 2024

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Screening for large mutations of the NF2 gene

31 July 2024

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Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.

31 July 2024

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Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

31 July 2024

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Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

31 July 2024

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High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

31 July 2024

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Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signalling pathways

31 July 2024

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

31 July 2024

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Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities

31 July 2024

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Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA

31 July 2024

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Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification

31 July 2024

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Multiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors

31 July 2024

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Concurrent methylation of promoters from tumor associated genes predicts outcome in acute myeloid leukemia.

31 July 2024

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31 July 2024

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20938835%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

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