ReviewInternational journal of molecular sciences2012
Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.
Review in International journal of molecular sciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers, 4 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
123 citing papers in PubMed, 4 syntheses or guidelines pooled it, 266 citations in OpenAlex.
- Position Statement of the Indian Academy of Medical Genetics on Cytogenetic and Molecular Cytogenetic Testing.Indian journal of pediatrics · 2026Guideline
- Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis.PloS one · 2026Pooled it
- [Selection of pharmacogenomic variants and methodology for their use in community pharmacy].Farmaceuticos comunitarios · 2024Pooled it
- Genetic Testing for Familial Hypercholesterolemia: Health Technology Assessment.Ontario health technology assessment series · 2022Pooled it
- digitalMLPA EZtec-MS: A new highly multiplexed DNA probe-based technique for neonatal screening.European journal of human genetics : EJHG · 2026Article
- Molecular and clinical features of a Japanese medulloblastoma cohort: Subgroup-specific prognostic stratification using economical/accessible diagnostic methods.Brain pathology (Zurich, Switzerland) · 2026Article
- Pathogenic mobile element insertion in theJournal of medical genetics · 2026Article
- A Lab-on-a-Chip for the Extraction and Analysis of Single Molecules of DNA from Biological Media.Nanomaterials (Basel, Switzerland) · 2026Article
- Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.Bioinformatics (Oxford, England) · 2026Article
- Identification of Copy Number Variations in Familial Hemiplegic Migraine Genes in Suspected Hemiplegic Migraine Patients.Biomedicines · 2026Article
- Optical Genome Mapping for the Identification of Complex Structural Variants in Hereditary Angioedema.Journal of clinical immunology · 2026Article
- Toward Comprehensive Clinical Genomics: Integrating Exon-Level Analysis for Detecting Monogenic Copy Number Variations.Annals of laboratory medicine · 2026Article
- High-resolution Chromosomal Microarray with Diagnostic Potential for Detecting Exon-level Copy Number Variations Using Targeted and Non-targeted Approaches.Annals of laboratory medicine · 2026Article
- Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction.Frontiers in medicine · 2026Article
- Preventing spinal muscular atrophy through the national premarital screening program in Türkiye: an economic comparison with treatment costs.Turkish journal of medical sciences · 2026Article
- Precision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.Current oncology (Toronto, Ont.) · 2025Review
- Clinical Utility of Multiplex Ligation-Dependent Probe Amplification in the Genetic Assessment of Patients with Myelodysplastic Syndrome.Biomedicines · 2025Article
- Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS.BMC medical genomics · 2025Article
- A Comparative Analysis of Haemoglobinopathy Diagnostic Techniques-The Ghanaian Picture and the Way Forward: A Narrative Review.Health science reports · 2025Review
- [Beckwith-Wiedemann syndrome with ganglioneuroblastoma: a case report].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Article
63 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiplex Ligation-dependent Probe Amplification (MLPA) assay is a recently developed technique able to evidence variations in the copy number of several human genes. Due to this ability, MLPA can be used in the molecular diagnosis of several genetic diseases whose pathogenesis is related to the presence of deletions or duplications of specific genes. Moreover, MLPA assay can also be used in the molecular diagnosis of genetic diseases characterized by the presence of abnormal DNA methylation. Due to the large number of genes that can be analyzed by a single technique, MLPA assay represents the gold standard for molecular analysis of all pathologies derived from the presence of gene copy number variation. In this review, the main applications of the MLPA technique for the molecular diagnosis of human diseases are described.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.