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Sakshi Jhawar, Rahul Lakhotia, Mari Suzuki, James Welch, Sunita K Agarwal, John Sharretts, Maria Merino, Mark Ahlman, Jenny E Blau, William F Simonds, and Jaydira Del Rivero

with targeted DNA sequencing of the tumor. A brief discussion about challenges and recent advances in the management of primary ovarian NETs follows. Case presentation A 33-year-old female from Honduras previously diagnosed with a 1.1 cm

Open access

Alejandro García-Castaño, Leire Madariaga, Sharona Azriel, Gustavo Pérez de Nanclares, Idoia Martínez de LaPiscina, Rosa Martínez, Inés Urrutia, Aníbal Aguayo, Sonia Gaztambide, and Luis Castaño

′GCCTCCACCACTGATGACAA-3′). Purified amplified products were directly sequenced in both directions with fluorescent dideoxynucleotides (BigDye Terminator v3.1 Cycle Sequencing Kit, Life Technologies). DNA mutation was named according to the Human Genome Variation Society

Open access

Sara Lomelino-Pinheiro, Bastos Margarida, and Adriana de Sousa Lages

possible at 25 years. A next-generation sequencing (NGS) panel for the study of hypomagnesemia including 17 genes ( BSND , CASR , CLCNKB , CLDN16 , CLDN19 , CNNM2 , EGF , EGFR , FAM111A , FXYD2 , HNF1B , KCNA1 , KCNJ10 , PCBD1 , SARS2

Open access

Chrisanthi Marakaki, Anna Papadopoulou, Olga Karapanou, Dimitrios T Papadimitriou, Kleanthis Kleanthous, and Anastasios Papadimitriou

were shipped to the Service Endocrinologie Moleculaire et Maladies Rares in Bron Cedex, France, for molecular analysis of the CYP11B1 gene after receiving informed consent from the parents. Genomic DNA was isolated from whole blood using the PureLink

Open access

Jin-Ying Lu, Po-Ju Hung, Pei-Lung Chen, Ruoh-Fang Yen, Kuan-Ting Kuo, Tsung-Lin Yang, Chih-Yuan Wang, Tien-Chun Chang, Tien-Shang Huang, and Ching-Chung Chang

amplicons in 46 genes, and were confirmed by direct Sanger sequencing. The patient's thyroid cancer manifested as a 13.5 cm thyroid mass with minimal lung, humerus and T9 spine metastases, and exhibited a very good response to the radioactive iodine

Open access

Jasmeet Kaur, Luis Casas, and Himangshu S Bose

(1) . Therefore, we amplified a 2.1-kb fragment of genomic DNA isolated from the patient spanning exons 5–7 with S3 and AS1 primers as well as exon 4 with Ex4S and Ex4AS primers using previously described procedures (1) followed by sequencing each

Open access

Anil Piya, Jasmeet Kaur, Alan M Rice, and Himangshu S Bose

Sequence analysis Blood samples of the patient and the mother collected in ethylenediaminetetraacetate (EDTA) were used to prepare genomic DNA using a genomic DNA isolation kit (DNeasy Blood and Tissue Kit, Qiagen). Because the patient was considered to

Open access

Yang Timothy Du, Lynette Moore, Nicola K Poplawski, and Sunita M C De Sousa

neonatal diabetes and positive family history were suggestive of monogenic diabetes, whilst his concomitant heart disease and the extant literature pointed specifically to a GATA6 mutation. Investigation Sanger sequencing of the GATA6 gene was

Open access

Motoyuki Igata, Kaku Tsuruzoe, Junji Kawashima, Daisuke Kukidome, Tatsuya Kondo, Hiroyuki Motoshima, Seiya Shimoda, Noboru Furukawa, Takeshi Nishikawa, Nobuhiro Miyamura, and Eiichi Araki

.74%). After obtaining written permission from the patient and her family and the approval by the ethics committee in Kumamoto University, gene analysis of THRB was performed. Genomic DNA was isolated from peripheral blood leukocytes. Seven genomic DNA

Open access

Ohoud Al Mohareb, Mussa H Al Malki, O Thomas Mueller, and Imad Brema

TFTs with a very high FT4 at 46.4 pmol/L (normal range: 12–22), high FT3 at 16.5 pmol/L (normal range: 2.8–7.1) and inappropriately normal TSH of 4.3 mIU/L (normal range: 0.85–6.5), consistent with RTHbeta. DNA sequencing of the THR-B gene, confirmed