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

By J. Schouten, C. Mcelgunn, Raymond Waaijer, D. Zwijnenburg, Filip Diepvens, G. Pals. Nucleic Acids Research, 2002

2,726 citations recorded by the source corpus.

Subfields: Molecular Biology

View Paper: https://www.semanticscholar.org/paper/08823196cb7cb97cc4466ba8e4fb5886cc96f247

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In Molecular Biology

1. Can Alkan
2. Evan E. Eichler
3. Kevin L. Gunderson
4. Frank Steemers
5. Computational Pan-Genomics Consortium

Citations in the corpus

• Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. (2005, neutral): “ET 59 24 (41) 15/9 65 (5-88) 35 (59) 23/12 56 (24-88) 4 (17)”
• Lifetime Cancer Risks in Individuals with Germline PTEN Mutations (2012, methodology): “4–83 Pediatric subjects (%) <18 98 (27) Proband status (%) 295 (80) Mutation type (%) Missense 102 (28) Nonsense 109 (30) Small insertion 33 (9) Small deletion 47 (13) Small indel 5 (1) Splice junction 35 (10) Promoter 20 (5) Large deletion 17 (5) Lifetime Cancer Risks of PTEN Mutation Carriers”
• Diagnostic genome profiling in mental retardation. (2005, methodology): “…is typically in the range of 5–10 Mb. Molecular cytogenetic techniques, such as FISH and multiplex ligation-dependent probe amplification (MLPA) (Schouten et al. 2002), have shown that causative submicroscopic rearrangements of the subtelomeric Received June 2, 2005; accepted for publication…”
• Highly parallel SNP genotyping. (2003, methodology): “In the course of this work, others have also published genotyping assays that are conceptually similar (Schouten et al. 2002; Hardenbol et al. 2003), and others have also achieved high multiplexing levels using direct hybridization-based methods, albeit without the flexibility to assay any SNPs of…”
• Genome structural variation discovery and genotyping (2011, methodology): “Multiplex ligation-dependent probe amplification (MLPA), multiplex amplifiable probe hybridization (MAPH) and multiplex amplicon quantification (MAQ) methodologies can simultaneously assay a larger number of loci (~40) on the basis of the quantification of PCR fragments in capillary electrophoresis ”
• PCR-based diagnostics for infectious diseases: uses, limitations, and future applications in acute-care settings (2004, neutral): “109 Similarly, ligation-dependent PCR (figure 3) 137 and padlock probes with rolling circle amplification (figure 4), 138 which are both probe amplification methods, have also shown that multiple genetic targets can be queried simultaneously by using a single primer pair for amplification.”
• Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. (2006, background): “of deletions and duplications (19, 20); (c) immunohistochemical staining for”
• Spectrum of sequence variations in the FANCA gene: An International Fanconi Anemia Registry (IFAR) study (2003, methodology): “Recently, a new method for detecting large deletions was developed [Schouten et al., 2002].”