Buscar
Mostrando ítems 1-10 de 143
Characterization of alpha thalassemic genotypes by multiplex ligation-dependent probe amplification in the Brazilian population
(Associação Brasileira de Divulgação Científica, 2011)
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 ...
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 ...