Multiplex ligation-dependent probe amplification identifies copy number changes in normal and undetectable karyotype MDS patients
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Hematology"
DOI: 10.1007/s00277-021-04550-8
Abstract: Chromosomal abnormalities play an important role in classification and prognostication of myelodysplastic syndrome (MDS) patients. However, more than 50% of low-risk MDS patients harbor a normal karyotype. Recently, multiplex ligation-dependent probe amplification (MLPA) has emerged… read more here.
Keywords: undetectable karyotype; karyotype; normal karyotype; multiplex ligation ... See more keywords
Necessity of multiplex ligation probe amplification in genetic tests: Germline variant analysis of the APC gene in familial adenomatous polyposis patients.
Sign Up to like & getrecommendations! Published in 2022 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2022.02.002
Abstract: BACKGROUND Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary cancer syndrome characterized by hundreds to thousands of colorectal adenomatous polyps. Without treatment, progression to colorectal cancer is inevitable. Most pathogenic mutations in the APC… read more here.
Keywords: adenomatous polyposis; probe amplification; familial adenomatous; multiplex ligation ... See more keywords
Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of biotechnology"
DOI: 10.1016/j.jbiotec.2019.04.025
Abstract: Congenital heart diseases (CHDs) are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors… read more here.
Keywords: copy number; heart diseases; multiplex ligation; chd ... See more keywords
Multiplex ligation-dependent probe amplification versus fluorescent in situ hybridization for screening RB1 copy number variations in Egyptian patients with retinoblastoma
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2116650
Abstract: ABSTRACT Background Retinoblastoma (RB) is the most common primary intraocular malignant tumor in children. RB is mostly caused by biallelic mutations in RB1 and occurs in hereditary and non-hereditary forms according to the “two-hit” theory.… read more here.
Keywords: number variations; multiplex ligation; copy number; rb1 copy ... See more keywords
Cytogenetic and molecular study of 370 infertile men in South India highlighting the importance of copy number variations by multiplex ligation‐dependent probe amplification
Sign Up to like & getrecommendations! Published in 2020 at "Andrologia"
DOI: 10.1111/and.13761
Abstract: Male infertility is a common and severe problem affecting 7% of population. The main objective of this study is to identify the chromosomal abnormalities, Y microdeletions in infertile men and also to access the frequency… read more here.
Keywords: 370 infertile; study; infertile men; ligation dependent ... See more keywords
Genetic characterisation of childhood B-other-acute lymphoblastic leukaemia in UK patients by fluorescence in situ hybridisation and Multiplex Ligation-dependent Probe Amplification.
Sign Up to like & getrecommendations! Published in 2021 at "British journal of haematology"
DOI: 10.1111/bjh.17869
Abstract: While next-generation sequencing technologies provide excellent strategies to screen for newly defined genetic abnormalities of prognostic or therapeutic significance in patients with B-other-acute lymphoblastic leukaemia (ALL), they are not widely available. We used a dual… read more here.
Keywords: situ hybridisation; fluorescence situ; lymphoblastic leukaemia; multiplex ligation ... See more keywords
Simultaneous Identification of 6 Pathogens Causing Porcine Reproductive Failure by Using Multiplex Ligation-Dependent Probe Amplification.
Sign Up to like & getrecommendations! Published in 2020 at "Transboundary and emerging diseases"
DOI: 10.1111/tbed.13585
Abstract: We developed a multiplex ligation-dependent probe amplification (MLPA) assay for the simultaneous detection of 6 clinically relevant viral pathogens causing porcine reproductive failure, i.e., porcine reproductive and respiratory syndrome virus (PRRSV), Japanese encephalitis virus (JEV),… read more here.
Keywords: reproductive failure; mlpa assay; multiplex ligation; porcine reproductive ... See more keywords
Multiplex ligation reaction based on probe melting curve analysis: a pragmatic approach for the identification of 30 common Salmonella serovars
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Clinical Microbiology and Antimicrobials"
DOI: 10.1186/s12941-019-0338-5
Abstract: BackgroundWhile Salmonella serotyping is of paramount importance for the disease intervention of salmonellosis, a fast and easy-to-operate molecular serotyping solution remains elusive. We have developed a multiplex ligation reaction based on probe melting curve analysis… read more here.
Keywords: salmonella; ligation reaction; multiplex ligation; salmonella serovars ... See more keywords
Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.848879
Abstract: Rubinstein–Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broadening of the thumbs and halluces, and developmental delay. RSTS is caused by de novo genetic alterations in CREBBP and the homologous EP300… read more here.
Keywords: crebbp; ligation dependent; rubinstein taybi; multiplex ligation ... See more keywords