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Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes
(BioMed Central Ltd.London, 2014-10-31)
Background
Certain rare syndromes with developmental delay or intellectual disability caused by genomic copy number variants (CNVs), either deletions or duplications, are associated with higher rates of obesity. Current ...
Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population
(Associação Brasileira de Divulgação Científica, 2011)
Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations
(Springer, 2016)
Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such
as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently
available to detect SR, but ...
Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations
(Polish Academy of Sciences with Springer International Publishing AG,, 2016)
Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but ...
Comparison of two subtelomeric assays for the screening of chromosomal rearrangements: analysis of 383 patients, literature review and further recommendations
(Polish Academy of Sciences with Springer International Publishing AG,, 2016)
Intellectual disability (ID) and global development delay (GDD) are caused by genetic factors such as subtelomeric rearrangements (SR) in 25 % of patients. There are several assays currently available to detect SR, but ...
Maternally inherited Leigh syndrome detected by Multiplex ligation-dependent probe amplification
(Taylor & Francis Ltd, 2019-01-12)
Leigh syndrome (LS) is a mitochondrial progressive encephalopathy characterized by bilateral symmetric necrotic lesions of the central nervous system. Maternally inherited Leigh Syndrome (MILS) represents 10–20% of LS. ...
Allelic status of 1p and 19q in oligodendrogliomas and glioblastomas: multiplex ligation-dependent probe amplification versus loss of heterozygosity
(ELSEVIER SCIENCE INC, 2009)
Identification of the 1p/19q allelic status in gliomas, primarily those with a major oligodendroglial component, has become an excellent molecular complement to tumor histology in order to identify those cases sensitive ...
Mitochondrial DNA deletions detected by Multiplex Ligation-dependent Probe Amplification
(Informa Healthcare, 2015-06)
The genetic diagnosis algorithm for mitochondrial (mt) diseases starts looking for deletions and common mutations in mtDNA. MtDNA's special features, such as large and variable genome copies, heteroplasmy, polymorphisms, ...
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA)
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
LWD is associated to SHOX haploinsufficiency, in most cases, due to gene deletion. Generally FISH and microsatellite analysis are used to identify SHOX deletion. MLPA is a new method of detecting gene copy variation, ...