(Q37340439)

19 August 2017

1 reference

title

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

1 reference

19 August 2017

Piotr Kozlowski

1

1 reference

PubMed ID

19053154

19 August 2017

Anna J Jasinska

series ordinal

2

1 reference

PubMed ID

19053154

19 August 2017

David J Kwiatkowski

series ordinal

3

1 reference

19 August 2017

1 December 2008

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19 August 2017

1 reference

19 August 2017

29

1 reference

19 August 2017

23

1 reference

19 August 2017

4627-4636

1 reference

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

19 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

Structural variants: changing the landscape of chromosomes and design of disease studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European A

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Psoriasis is associated with increased beta-defensin genomic copy number

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Diet and the evolution of human amylase gene copy number variation

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Methods and strategies for analyzing copy number variation using DNA microarrays

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Measurement of locus copy number by hybridisation with amplifiable probes

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

MLPA and MAPH: new techniques for detection of gene deletions

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Multiplex ligation-dependent probe amplification for the detection of chromosomal gains and losses in formalin-fixed tissue

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Multiplex ligation-dependent probe amplification using a completely synthetic probe set

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Simultaneous MLPA-based multiplex point mutation and deletion analysis of the Dystrophin gene

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection).

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Large genomic deletions inactivate the BRCA2 gene in breast cancer families

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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%2FELPS.200800126

7 January 2021

Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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%2FELPS.200800126

7 January 2021

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%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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%2FELPS.200800126

7 January 2021

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA).

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Prader-Willi and Angelman syndromes. Disorders of genomic imprinting

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Prader-Willi and Angelman syndromes: sister imprinted disorders

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

MS-MLPA: an attractive alternative laboratory assay for robust, reliable, and semiquantitative detection of MGMT promoter hypermethylation in gliomas

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Sequential gene promoter methylation during HPV-induced cervical carcinogenesis

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Utility of microsatellite analysis in evaluation of pregnancies with placental mesenchymal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Genomic rearrangements in the BRCA1 and BRCA2 genes.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Gene expression profiling of minimal residual disease in acute myeloid leukaemia by novel multiplex-PCR-based method

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Characterizing the cancer genome in lung adenocarcinoma

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

LKB1 modulates lung cancer differentiation and metastasis

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Multiplex ligation-dependent probe amplification for the detection of 1p and 19q chromosomal loss in oligodendroglial tumors.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Genotyping of transgenic mice: old principles and recent developments

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Real-time quantitative PCR-based system for determining transgene copy number in transgenic animals.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Simple method of zygosity identification in transgenic mice by real-time quantitative PCR.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Rapid and accurate determination of zygosity in transgenic animals by real-time quantitative PCR

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

A high proportion of founder BRCA1 mutations in Polish breast cancer families

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Expression of inflammation-related genes in endothelial cells is not directly affected by microparticles from preeclamptic patients

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Muscleblind proteins regulate alternative splicing

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Variation of CNV distribution in five different ethnic populations

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Accurate, high-throughput typing of copy number variation using paralogue ratios from dispersed repeats.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Common deletions and SNPs are in linkage disequilibrium in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Common deletion polymorphisms in the human genome.

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Widening the spectrum of human genetic variation

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Copy-number analysis goes more than skin deep

1 reference

https://api.crossref.org/works/10.1002%2FELPS.200800126

7 January 2021

Identifiers

DOI

10.1002/ELPS.200800126

1 reference

19 August 2017

1 reference

PubMed ID

19053154