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

of the percentage of malignant cells (tumour cell to non-tumour cell). An overview of the patient data is presented in Table 1 . Routine Sanger sequencing was performed on the BRAF V600E and BRAF wild-type V600 gene locus. Table 1

Open access

M I Stamou, P Varnavas, L Plummer, V Koika and N A Georgopoulos

strategies have been utilized for gene discovery including analysis of chromosomal rearrangements, sequencing of syndromic cases, candidate gene approach and studies of endogamous families/populations ( 2 ). Despite the major genetic and phenotypic

Open access

Joakim Crona, Alberto Delgado Verdugo, Dan Granberg, Staffan Welin, Peter Stålberg, Per Hellman and Peyman Björklund

-quality reads; PCC susceptibility genes, SDHA , SDHB , SDHC , SDHD , SDHAF2 , VHL , HIF2A , RET , NF1 , TMEM127 and MAX ; PCC, pheochromocytoma. Figure 1 Bioinformatics pipeline for analysis of exome sequencing in the clinical genetic screening of

Open access

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

Open access

Anna-Pauliina Iivonen, Johanna Känsäkoski, Kirsi Vaaralahti and Taneli Raivio

BigDyeTerminator Cycle Sequencing Kit (v3.1) and ABI Prism 3730xl DNA Analyzer automated sequencer (Applied Biosystems). The DNA sequences were aligned and read with Sequencher 4.9 software (Gene Codes Corporation, AnnArbor, MI, USA). Allele frequency of the

Open access

Zi-Di Xu, Wei Zhang, Min Liu, Huan-Min Wang, Pei-Pei Hui, Xue-Jun Liang, Jie Yan, Yu-Jun Wu, Yan-Mei Sang, Cheng Zhu and Gui-Chen Ni

treated in Beijing Children’s Hospital from January 2014 to August 2017 were selected as the research subjects, and the CHI-related causative genes in children were sequenced and analyzed using second-generation sequencing technology. Through the

Open access

Barbora Pekova, Sarka Dvorakova, Vlasta Sykorova, Gabriela Vacinova, Eliska Vaclavikova, Jitka Moravcova, Rami Katra, Petr Vlcek, Pavla Sykorova, Daniela Kodetova, Josef Vcelak and Bela Bendlova

). Next-generation sequencing The analyzed genes were HRAS (exons 2, 3), KRAS (exons 2, 3), NRAS (exons 2, 3), BRAF (exon 15), TERT (promoter), IDH1 gene (exons 4, 6), CHEK2 (exons 3, 4, 7, 11, 13), PPM1D (exons 1, 4, 5, 6), EIF1AX

Open access

Qiuli Liu, Lin-ang Wang, Jian Su, Dali Tong, Weihua Lan, Luofu Wang, Gaolei Liu, Jun Zhang, Victor Wei Zhang, Dianzheng Zhang, Rongrong Chen, Qingyi Zhu and Jun Jiang

potential mutations in the following susceptibility genes of CAH: CYP21A2 , CYP11B1 , CYP17A1 , HSD17B3 , HSD3B2 , ARMC5 and STAR using Target Capture-Based Deep Sequencing (AmCare Genomic Laboratory, Guangzhou, Guangdong, China). Briefly, the

Open access

Yiqiang Huang, Lin-ang Wang, Qiubo Xie, Jian Pang, Luofu Wang, Yuting Yi, Jun Zhang, Yao Zhang, Rongrong Chen, Weihua Lan, Dianzheng Zhang and Jun Jiang

no sign of PGLs and refused to be tested with Sanger sequencing. Identification of mutations in the SDHB and SDHD genes We identified two heterozygous germline mutations in the SDHB gene: c.343C>T in proband 1 ( Fig. 3A ) and c.541-2A>G in

Open access

June Young Choi, Jin Wook Yi, Jun Hyup Lee, Ra-Yeong Song, Hyeongwon Yu, Hyungju Kwon, Young Jun Chai, Su-jin Kim and Kyu Eun Lee

, somatic mutations and gene expression data derived from RNA sequencing. Pathologic data were re-evaluated using scanned images of the paper-written pathologic documents provided by TCGA-associated hospitals. PTC subtype classification and MACIS scores were