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Welcome to the MLPA Article archive. Click on the title to view full text.
MLPA 2004 articles Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex-ligation dependent probe amplification (MLPA). Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA). MLPA and MAPH: NEW Techniques for Detection of Gene Deletions. Two-Color Multiplex Ligation-dependant Probe Amplification: Detecting Genomic Rearrangements in Hereditary Multiple Exostoses Improved Testing for CMT1A and HNPP Using Multiplex Ligation-Dependent Probe Amplification (MLPA) With Rapid DNA Preparations: Comparison with the Interphase FISH Method. Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer. Family cancer histories predictive of a high risk of hereditary non-polyposis colorectal cancer assosiate significantly with a genomic rearrangement in hMSH2 or hMLH1. Dosage analysis of cancer predisposition genes by MLPA. Multiplex ligation-dependent probe amplification using a completely synthetic probe set. Measurement of relative copy number of CDKN2A/ARF and CDKN2B in bladder cancer by real-time quantitative PCR and multiplex ligation-dependent probe amplification. Large BRCA1 Gene Deletions Are Found in 3% of German High-risk Breast Cancer Families. Screening for subtelomeric rearrange ments in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). Application of multiplex ligation-dependent probe analysis to define a small deletion encompassing PMP22 exons 4 and 5 in hereditary neuropathy with liability to pressure palsies. Multiplex Ligation-dependent Probe Amplification Identifies LDLR Abnormalities in Familial Hypercholesterolemia Patients with Apparently Normal LDLR Sequence. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques. Kapillarelektrophoretische Identifizierung von Gendeletionen.
MLPA 2003 articles Large Genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Genomic rearrangements account for more than one-third of the BRCA1 mutations in norhern Italian breast/ovarian cancer families. Delineating genetic pathways of disease progression in head and neck squamous cell carcinoma. Identification and characterization of genomic rearrangements of MSH2 and MLH1 in Lynch Syndrome (HNPCC) by novel techniques. Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis. Rapid, high throughput prenetal detection of aneuploidy using a novel quantitative method (MLPA). Genomic Deletions in MSH2 or MSH1 Are a Frequent Cause of Hereditary Non-Polyposis Colorectal Cancer : Identification of Novel and Recurrent Deletions by MLPA. Multiplex Ligation-Dependant Probe Amplification (MLPA) Detects Large Deletions in the MECP2 Gene of Swedish Rett Syndrome Patients. Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signaling pathways
MLPA 2002 articles Relative quantification of 40 nucleic acid sequences by mulitplex ligation-dependent probe amplification. Genomic deletions of MSH2 and MLH1 in coloretal cancer families detected by a novel mutation detection approach.
mRNA MLPA articles Expression profiling via novel multiplex assay allows rapid assessment of gene regulation in defined signaling pathways. Treatment with an Anti-CD14 monoclonal antibody delays and inhibits lipopolysaccharide-induced gene expression in humans in vivo. Gene expression profiling of minimal residual disease in acute myeloid leukaemia by novel multiplex-PCR-based method.
MLPA Poster presentations MSH2/MLH1 MLPA posters. BRCA1 MLPA poster. Chromosomal aberrations. MECP2 MLPA poster. Subtelomeric deletions. Subtelomere analysis of individuals with Mental Retardation. Deletions in the VHL Tumorsuppressor gene. Deletions and Duplications in the dystrophin gene. Large genomic APC deletions. Genomic deletions in FOXL2. Identification of deletions in patients with spinal muscular atrophy (SMA).
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15719045]
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15719043]
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15841391&query_hl=6]
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15870828&query_hl=1]
MLPA 2005 articles Large genomic deletions inactivate the BRCA2 gene in breast cancer families. Genome profiling of melanocytic tumors using multiplex ligation-dependent probe amplification (MLPA): Its usefulness as an adjunctive diagnostic tool for melanocytic tumors. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay. Deletion and duplication screening in the DMD gene using MLPA. Automatic analysis of multiplex ligation-dependent probe amplification products (exemplified by a commercial kit for prenatal aneuploidy detection). A noninvasive genetic screening test to detect oral preneoplastic lesions. Rapid and quantitative detection of homologous and non-homologous recombination events using three oligonucleotide MLPA. Multiplex ligation-dependent probe amplification for the detection of 1p and 19q chromosomal loss in oligodendroglial tumors. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Novel genomic insertion-deletion in MLH1: possible mechanistic role for non-homologous end-joining DNA repair. Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Adenomatous Polyposis Families That Screen APC Mutation-Negative by Conventional Methods Are Genetically Heterogeneous. 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. Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes. Large genomic aberrations in MSH2 and MLH1 genes are frequent in Chinese colorectal cancer. Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer. Prevalence of 9p21 deletions in UK melanoma families. Deletions Account for 17% of Pathogenic Germline Alterations in MLH1 and MSH2 in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Families. Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA. Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome. Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification. Large Deletions of the APC Gene in 15% of Mutation-Negative Patients With Classical Polyposis (FAP). Large genomic rearrangements in MECP2. Multiplex ligation-dependent probe amplification for the detection of chromosomal gains and losses in formalin-fixed tissue. Chromosomal instability in flat adenomas and carcinomas of the colon. High-resolution analysis of the subtelomeric regions of human embryonic stem cells. Screening for large mutations of the NF2 gene. Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. DNA copy number changes at 8q11-24 in metastasized colorectal cancer. High throughput mRNA profiling highlights associations between myocardial infarction and aberrant expression of inflammatory molecules in blood cells. Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Detection of large deletions in the LDL receptor gene with quantitative PCR methods. Analysis of hMLH1 and hMSH2 Gene Dosage Alterations in Hereditary Nonpolyposis Colorectal Cancer Patients by Novel Methods. Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. Deletion and duplication screening in the DMD gene using MLPA. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplification.
[http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16988470&query_hl=10&itool=pubmed_docsum]
MLPA 2006 articles MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation. Increased gene copy numbers at chromosome 20q are frequent in both squamous cell carcinomas and adenocarcinomas of the cervix. Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA). Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics. A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review. High rate of detection of subtelomeric aberration by using combined MLPA and subtelomeric FISH approach in patients with moderate to severe mental retardation. Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. High Frequency of BMPR2 Exonic Deletions/Duplications in Familial Pulmonary Arterial Hypertension. Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing alone. MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Molecular Diagnosis of Prader-Willi and Angelman Syndromes by Methylation-Specific Melting Analysis and Methylation-Specific Multiplex Ligation-Dependent Probe Amplification. Genomic Rearrangements at the BRCA1 Locus in Spanish Families with Breast/Ovarian Cancer. Establishment and characterization of xenografts and cancer cell cultures derived from BRCA1 -/- epithelial ovarian cancers. Multiplex Ligation-Dependent Probe Amplification for Rapid Detection of Proteolipid Protein 1 Gene Duplications and Deletions in Affected Males and Carrier Females with Pelizaeus-Merzbacher Disease. Fine-mapping loss of gene architecture at the CDKN2B (p15INK4b), CDKN2A (p14ARF, p16INK4a), and MTAP genes in head and neck squamous cell carcinoma. Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements. A Novel Exon Duplication Event Leading to a Truncating Germ-line Mutation of the APC Gene in a Familial Adenomatous Polyposis Family. LKB1 exonic and whole gene deletions are a common cause of Peutz-Jeghers syndrome. Expression of inflammation-related genes in endothelial cells is not directly affected by microparticles from preeclamptic patients. Detection of HER2 amplification in breast carcinomas: comparison of Multiplex Ligation-dependent Probe Amplification (MLPA) and Fluorescence In Situ Hybridization (FISH) combined with automated spot counting. Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers. BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension. Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer. Screening for RB1 mutations in tumor tissue using denaturing high performance liquid chromatography, multiplex ligation-dependent probe amplification, and loss of heterozygosity analysis. Identification of mismatch repair gene mutations in young colorectal cancer patients and patients with multiple HNPCC-associated tumours. Identification of exonic deletions in the PAH gene causing phenylketonuria by MLPA analysis. Identification of Alu elements mediating a partial PMP22 deletion. Comparison of multiplex ligation dependent probe amplification to immunohistochemistry for assessing HER-2/neu amplification in invasive breast cancer. Epigenetic events of disease progression in head and neck squamous cell carcinoma. Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations. Gross rearrangements in BRCA1 but not BRCA2 play a notable role in predisposition to breast and ovarian cancer in high-risk families of German origin. Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark. Clinical features and gene analysis in Korean patients with early-onset Parkinson disease. Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangement. A novel approach to simultaneously scan genes at fragile sites. Multiplex ligation-dependent probe amplification: a diagnostic tool for simultaneous identification of different genetic markers in glial tumors. A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A. Frequent gene dosage alterations in stromal cells of epithelial ovarian carcinomas. Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease. Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Leri-Weill dyschondrosteosis (LWD) probands. Detection of risk-identifying chromosomal abnormalities and genomic profiling by multiplex ligation-dependent probe amplification in chronic lymphocytic leukemia. Singapore Familial Adenomatous Polyposis (FAP) Patients with Classical Adenomatous Polyposis but Undetectable APC Mutations Have Accelerated Cancer Progression. Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements. Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28. Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay. Parkinson Study Group - PROGENI Investigators. Mutations in DJ-1 are rare in familial Parkinson disease. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients. Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic. Exon Deletions of SPG4 are a Frequent Cause of Hereditary Spastic Paraplegia. A novel type of deletion in the CDKN2A gene identified in a melanoma-prone family.
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