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Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold

were not analysed in the entire cohort. Moreover, as the clinical phenotype is highly variable, we cannot assure that all possible causative genes were excluded ( 4 ). The use of massive parallel sequencing, mostly targeted sequencing panel or whole

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Tiemo S Gerber, Arno Schad, Nils Hartmann, Erik Springer, Ulrich Zechner and Thomas J Musholt

according to the manufacturer’s instructions. The MiSeq System (Illumina) was used to launch the massively parallel sequencing process to capture the exons of 48 genes with 212 amplicons. Data analysis Using the TruSeq Amplicon Workflow on the MiSeq

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Zofia Kolesinska, James Acierno Jr, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud and Marek Niedziela

parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development . Clinical Genetics 2013 83 35 – 43 . ( https://doi.org/10.1111/j.1399-0004.2012.01879.x ) 25 Kim JH Kang E Heo SH Kim GH Jang JH Cho EH Lee

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L A Hughes, K McKay-Bounford, E A Webb, P Dasani, S Clokie, H Chandran, L McCarthy, Z Mohamed, J M W Kirk, N P Krone, S Allen and T R P Cole

Sandberg DE Grody WW Nelson SF Vilain E . Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development . Clinical Genetics 2013 83 35 – 43 . ( https://doi.org/10.1111/j.1399

Open access

Luigi Laino, Silvia Majore, Nicoletta Preziosi, Barbara Grammatico, Carmelilia De Bernardo, Salvatore Scommegna, Anna Maria Rapone, Giacinto Marrocco, Irene Bottillo and Paola Grammatico

for the correct clinical management of neonates in cases of ambiguous genitalia. Moreover, the introduction of new technologies for massive parallel sequencing is becoming helpful for the molecular characterization of patients with DSD by analyzing