(Q61970275)

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Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements

scientific article published in 2006

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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:16941473%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16941473%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

Laura De Lellis

1

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29 December 2019

7

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29 December 2019

Renato Mariani-Costantini

9

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29 December 2019

10

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29 December 2019

Alessandro Cama

11

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29 December 2019

Maria Cristina Curia

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Maria Cristina Curia

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29 December 2019

Teresa Catalano

3

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Teresa Catalano

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Europe PubMed Central

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29 December 2019

Cristina Mareni

6

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Cristina Mareni

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29 December 2019

author name string

Simona De Toffol

4

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29 December 2019

Chiara Bassi

5

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29 December 2019

Pasquale Battista

8

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29 December 2019

publication date

1 October 2006

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29 December 2019

1 reference

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29 December 2019

27

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29 December 2019

10

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29 December 2019

1047-1056

1 reference

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29 December 2019

describes a project that uses

high-performance liquid chromatography

1 reference

based on heuristic

inferred from title

The detection of large deletions or duplications in genomic DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

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Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

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Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Structural variation in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Determination of SNP allele frequencies in pooled DNAs by primer extension genotyping and denaturing high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Comprehensive screening for constitutional RB1 mutations by DHPLC and QMPSF.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

The molecular basis of alpha thalassaemia in a South African population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch syndrome (HNPCC) by novel techniques

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

MLPA and MAPH: new techniques for detection of gene deletions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Different molecular mechanisms underlie genomic deletions in the MLH1 Gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20386

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20386

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16941473%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16941473%20AND%20SRC:MED&resulttype=core&format=json

29 December 2019

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