Advances of multiplex ligation-dependent probe amplification technology in molecular diagnostics

Highly multiplex PCR assays by coupling the 5′-flap endonuclease activity of Taq DNA polymerase and molecular beacon reporters

(2022) Qiuying Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hemoglobin Yamagata [β132(H10)Lys→Asn; (HBB: c.399A>T)]: a mosaic to be put together

(2021) Iacopo Iacomelli et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients

(2020) C. S. Franchim et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy

(2020) Diana Massalska et al.   JOURNAL OF HUMAN GENETICS

Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients

(2019) Toshio Mochizuki et al.   Clinical and Experimental Nephrology

An evolving view of copy number variants

(2019) Stephanie Lauer et al.   CURRENT GENETICS

MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study

(2019) Zeeshan Ansar et al.   Genetic Testing and Molecular Biomarkers

Reverse transcriptase multiplex ligation-dependent probe amplification in endomyocardial biopsies for the diagnosis of cardiac allograft rejection

(2019) Nicolas Adam et al.   JOURNAL OF HEART AND LUNG TRANSPLANTATION

Whole blood RNA signatures in leprosy patients identify reversal reactions before clinical onset: a prospective, multicenter study

(2019) Maria Tió-Coma et al.   Scientific Reports

RT-MLPA as a New Tool for the Molecular Diagnosis of Allograft Rejection in Formalin Paraffin-embedded Endomyocardial Biopsies

(2018) N. Adam et al.   JOURNAL OF HEART AND LUNG TRANSPLANTATION

Incidence of Y chromosome microdeletions in patients with Klinefelter syndrome

(2018) F. Sciarra et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Copy Number Variation Analysis Based on Gold Magnetic Nanoparticles and Fluorescence Multiplex Ligation-Dependent Probe Amplification

(2017) Haowen Yang et al.   Journal of Biomedical Nanotechnology

Determination of Molecular Subtypes of Diffuse Large B-Cell Lymphoma Using a Reverse Transcriptase Multiplex Ligation-Dependent Probe Amplification Classifier

(2017) Victor Bobée et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Digital Multiplex Ligation-Dependent Probe Amplification for Detection of Key Copy Number Alterations in T- and B-Cell Lymphoblastic Leukemia

(2017) Anne Benard-Slagter et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review

(2017) S. Ryder et al.   Orphanet Journal of Rare Diseases

High frequency of de novo DAZ microdeletion in sperm nuclei of subfertile men: possible involvement of genome instability in idiopathic male infertility

(2017) Hossein Mozdarani et al.   Human Fertility

A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease

(2015) Xiaoqing Zhang et al.   BMC GENOMICS

Advances in genetic therapeutic strategies for Duchenne muscular dystrophy

(2015) Simon Guiraud et al.   EXPERIMENTAL PHYSIOLOGY

Rapid and sensitive detection of lower respiratory tract infections by stuffer-free multiplex ligation-dependent probe amplification

(2013) Boram Chung et al.   ELECTROPHORESIS

Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

(2012) Liborio Stuppia et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES