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Detecting copy number changes in genomic DNA: MAPH and MLPA
scientific article published on 01 January 2004
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
title
Detecting copy number changes in genomic DNA: MAPH and MLPA
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
author
Johan T Den Dunnen
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
author name string
Stefan J White
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1
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
Martijn H Breuning
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
publication date
1 January 2004
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
published in
Methods in Cell Biology
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
volume
75
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
page(s)
751-768
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
cites work
Genomic microarrays in human genetic disease and cancer
1 reference
stated in
Crossref
reference URL
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7 January 2021
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Basic local alignment search tool
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2975032-3
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7 January 2021
based on heuristic
inferred from DOI database lookup
Determination of SMN1 and SMN2 copy number using TaqMan technology
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2975032-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The detection of large deletions or duplications in genomic DNA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0091-679X%2804%2975032-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Measurement of locus copy number by hybridisation with amplifiable probes
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Crossref
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7 January 2021
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Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels
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The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardation.
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Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
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Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster
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7 January 2021
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High throughput screening of human subtelomeric DNA for copy number changes using multiplex amplifiable probe hybridisation (MAPH)
1 reference
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Crossref
reference URL
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7 January 2021
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Large-scale genotyping of complex DNA.
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Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
1 reference
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7 January 2021
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Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach
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Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families
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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
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BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients
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High-resolution analysis of acquired genomic imbalances in bone marrow samples from chronic myeloid leukemia patients by use of multiple short DNA probes
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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).
1 reference
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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification
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Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay.
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Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).
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Assembly of microarrays for genome-wide measurement of DNA copy number
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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.
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Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
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Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
1 reference
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An alternative to FISH: detecting deletion and duplication carriers within 24 hours
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Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses
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Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR
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Identifiers
DOI
10.1016/S0091-679X(04)75032-3
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
PubMed ID
15603451
1 reference
stated in
Europe PubMed Central
PubMed ID
15603451
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15603451%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 January 2020
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