(Q54642118)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

Małgorzata Marcinkowska-Swojak

15 February 2020

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Piotr Kozlowski

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

David J Kwiatkowski

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

language of work or name

English

0 references

publication date

12 October 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

The Scientific World Journal

15 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

2003-2018

1 reference

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Creative Commons Attribution 3.0 Unported

15 February 2020

copyright license

start time

1 January 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A simple way to evaluate self-designed probes for tumor specific Multiplex Ligation-dependent Probe Amplification (MLPA)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Custom-designed MLPA using multiple short synthetic probes: application to methylation analysis of five promoter CpG islands in tumor and urine specimens from patients with bladder cancer

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

The landscape of somatic copy-number alteration across human cancers

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Amplification of EGFR T790M causes resistance to an irreversible EGFR inhibitor

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

TSC1 loss synergizes with KRAS activation in lung cancer development in the mouse and confers rapamycin sensitivity.

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Origins and functional impact of copy number variation in the human genome

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Rapid high-throughput analysis of DNaseI hypersensitive sites using a modified Multiplex Ligation-dependent Probe Amplification approach

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Activating and resistance mutations of EGFR in non-small-cell lung cancer: role in clinical response to EGFR tyrosine kinase inhibitors

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Population analysis of large copy number variants and hotspots of human genetic disease

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

New applications and developments in the use of multiplex ligation-dependent probe amplification

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

High-resolution mapping of copy-number alterations with massively parallel sequencing

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Integrated detection and population-genetic analysis of SNPs and copy number variation

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Characterizing the cancer genome in lung adenocarcinoma

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Methods and strategies for analyzing copy number variation using DNA microarrays

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Copy number variation in the genome; the human DMD gene as an example

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Global variation in copy number in the human genome

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

EGFR mutation and resistance of non-small-cell lung cancer to gefitinib

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

MLPA and MAPH: new techniques for detection of gene deletions

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

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

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Genome architecture, rearrangements and genomic disorders

4 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4004796

Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots.

4 June 2018

1 reference

12 December 2020

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients

1 reference

12 December 2020

Somatic mutations of the tyrosine kinase domain of epidermal growth factor receptor and tyrosine kinase inhibitor response to TKIs in non-small cell lung cancer: an analytical database

1 reference

12 December 2020

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients

1 reference

12 December 2020

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

1 reference

12 December 2020

Robust method for distinguishing heterozygous from homozygous transgenic alleles by multiplex ligation-dependent probe assay

1 reference

12 December 2020

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

1 reference

12 December 2020

Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations

1 reference

12 December 2020

Identifiers

DOI

10.1100/TSW.2010.195

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20953551%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

PubMed publication ID

20953551

1 reference