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
Multiple Ligation-dependent Probe Amplification Along with Whole Exome Sequencing Should be Required for the Diagnosis of Structural Heterozygous Familial Hypercholesteremia
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DOI: 10.2169/internalmedicine.9412-22
Abstract: Familial hypercholesterolemia (FH) is an autosomaldominant hereditary lipid disorder, which can eventually cause the premature coronary artery disease (CAD). Recently, FH has been recognized as relatively common disease due to its prevalence (1 in 250-300… read more here.
Keywords: probe amplification; ligation dependent; genetic testing; whole exome ... 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