MLPA and MAPH: new techniques for detection of gene deletions.
about
Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathyMicrosatellite instability in colorectal cancerA method for accurate detection of genomic microdeletions using real-time quantitative PCR.Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney diseaseMultiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.Same-day subtyping of Campylobacter jejuni and C. coli isolates by use of multiplex ligation-dependent probe amplification-binary typing.A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) techniqueComparison of multiplex ligation dependent probe amplification to immunohistochemistry for assessing HER-2/neu amplification in invasive breast cancer.Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer familiesNovel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease.MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22qCombined mutation and rearrangement screening by quantitative PCR high-resolution melting: is it relevant for hereditary recurrent Fever genes?Can we rely on the multiplex ligation-dependent probe amplification method (MLPA) for prenatal diagnosis?Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer.Rapid screening for chromosomal aneuploidies using array-MLPA.Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome.Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.Guidelines for molecular karyotyping in constitutional genetic diagnosis.Copy number variation analysis by ligation-dependent PCR based on magnetic nanoparticles and chemiluminescence.FISH analysis of PTEN in endometrial carcinoma. Comparison with SNP arrays and MLPA.Microarray MAPH: accurate array-based detection of relative copy number in genomic DNA.A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer.Familial hypercholesterolemia: the lipids or the genes?Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification.Clinical applications of next generation sequencing in cancer: from panels, to exomes, to genomes.FOXE1 polyalanine tract length screening by MLPA in idiopathic premature ovarian failureGenetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq.The correlation analysis of functional factors and age with duchenne muscular dystrophy.Evolution of prenatal genetics: from point mutation testing to chromosomal microarray analysis.IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndromePrevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.Pharmacogenetic screening of the gene deletion and duplications of CYP2D6.Screening and genetic diagnosis of haemoglobinopathies.Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia.Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.An overview of current microarray-based human globin gene mutation detection methods.Improved detection of germline mutations in Korean VHL patients by multiple ligation-dependent probe amplification analysis
P2860
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P2860
MLPA and MAPH: new techniques for detection of gene deletions.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
MLPA and MAPH: new techniques for detection of gene deletions.
@ast
MLPA and MAPH: new techniques for detection of gene deletions.
@en
type
label
MLPA and MAPH: new techniques for detection of gene deletions.
@ast
MLPA and MAPH: new techniques for detection of gene deletions.
@en
prefLabel
MLPA and MAPH: new techniques for detection of gene deletions.
@ast
MLPA and MAPH: new techniques for detection of gene deletions.
@en
P356
P1433
P1476
MLPA and MAPH: new techniques for detection of gene deletions.
@en
P2093
Graham R Taylor
Loryn N Sellner
P304
P356
10.1002/HUMU.20035
P577
2004-05-01T00:00:00Z