Résultats de la recherche - "next generation sequencing"

Effects of Qi Teng Xiao Zhuo granules on circRNA expression profiles in rats with chronic glomerulonephritis par Gao JR, Jiang NN, Jiang H, Wei LB, Gao YC, Qin XJ, Zhu MQ, Wang J

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Genomic profiling and expanded use of targeted anticancer drugs in solid cancers with exhausted evidence-based treatment options (PRECODE): study protocol of a prospective, non-ran... par Karin Holmskov Hansen, Maria Bibi Lyng, Annette Raskov Kodahl, Jon Thor Asmussen, Arman Arshad, Henrik Petersen, Lotte Krogh, Sidse Ehmsen, Thomas Kielsgaard Kristensen, Henrik J. Ditzel

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Identification of dual STRN-NTRK2 rearrangements in a high grade sarcoma, with good clinical response to first-line larotrectinib therapy par Ruihe Lin, Atrayee Basu Mallick, Zi-Xuan Wang, Scot Andrew Brown, Bo Lu, Wei Jiang

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BRCA1 and BRCA2 germline mutations in Chinese Hakka breast cancer patients par Yinmei Zhang, Heming Wu, Caiyan Gan, Hui Rao, Qiuming Wang, Xueming Guo

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Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism par Chang-Run Zhang, Yuan-Ping Shi, Cao-Xu Zhang, Feng Sun, Wen-Jiao Zhu, Rui-Jia Zhang, Ya Fang, Qian-Yue Zhang, Chen-Yan Yan, Ying-Xia Ying, Shuang-Xia Zhao, Huai-Dong Song

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Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project par Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano

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Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing par John Hoon Rim, Se Hee Kim, In Sik Hwang, Soon Sung Kwon, Jieun Kim, Hyun Woo Kim, Min Jung Cho, Ara Ko, Song Ee Youn, Jihun Kim, Young Mock Lee, Hee Jung Chung, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang

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Is Polymorphism in the Apoptosis and Inflammatory Pathway Genes Associated With a Primary Response to Anti-TNF Therapy in Crohn's Disease Patients? par Michal Walczak, Liliana Lykowska-Szuber, Marianna Plucinska, Kamila Stawczyk-Eder, Oliwia Zakerska-Banaszak, Piotr Eder, Iwona Krela-Kazmierczak, Michal Michalak, Marek Zywicki, Wojciech M. Karlowski, Marlena Szalata, Agnieszka Dobrowolska, Ryszard Slomski, Marzena Skrzypczak-Zielinska

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Sequencing analysis of SARS-CoV-2 cases in Slovenian long-term care facilities to support outbreak control par Rok Kogoj, Manja Grašek, Alen Suljič, Samo Zakotnik, Doroteja Vlaj, Kaja Kotnik Koman, Mario Fafangel, Miroslav Petrovec, Tatjana Avšič-Županc, Misa Korva

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The Microbiome in Comedonal Contents of Inflammatory Acne Vulgaris is Composed of an Overgrowth of Cutibacterium Spp. and Other Cutaneous Microorganisms par Akaza N, Takasaki K, Nishiyama E, Usui A, Miura S, Yokoi A, Futamura K, Suzuki K, Yashiro Y, Yagami A

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Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center par Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu, Zhengfeng Xu

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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy par Gea Kiewiet, Dineke Westra, Eddy N. de Boer, Emma van Berkel, Tom G. J. Hofste, Martine van Zweeden, Ronny C. Derks, Nico F. A. Leijsten, Martina H. A. Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de Sain-van der Velden, Els Voorhoeve, M. Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen

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Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review par Hui-Hui Xu, Yang Zhang, Zhe-Hang He, Xing-Hong Di, Fei-Yan Pan, Wei-Wu Shi

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Assessing the Impact of Melanin Content on the Reliability of the Idylla™ BRAF Mutation Test par Sam D. Parsons, Kate Murphy, Alison Finall

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Neonatal Cholestasis Over Time: Changes in Epidemiology and Outcome in a Cohort of 154 Patients From a Portuguese Tertiary Center par Ermelinda Santos Silva, Ermelinda Santos Silva, Ermelinda Santos Silva, Alexandra Almeida, Simão Frutuoso, Esmeralda Martins, Esmeralda Martins, Maria João Valente, Alice Santos-Silva, Ana Isabel Lopes, Ana Isabel Lopes

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MET gene alterations predict poor survival following chemotherapy in patients with advanced cancer par Jihoon Ko, Jaeyun Jung, Seung Tae Kim, Jung Yong Hong, Sehhoon Park, Joon Oh Park, Young Suk Park, Ho Yeong Lim, Soomin Ahn, Kyoung-Mee Kim, Won Ki Kang, Jeeyun Lee

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Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia par Diying Shen, Lixia Liu, Xiaojun Xu, Hua Song, Jingying Zhang, Weiqun Xu, Fenying Zhao, Juan Liang, Chan Liao, Yan Wang, Tian Xia, Chengcheng Wang, Feng Lou, Shanbo Cao, Jiayue Qin, Yongmin Tang

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Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy par Xiangdong Kong, Xingjian Zhong, Lina Liu, Siying Cui, Yuxia Yang, Lingrong Kong

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Elucidating the nature of acinic cell carcinoma of the breast with high-grade morphology: evidence from case report par Yunjie Ge, Xianping Wei, Jing-Nan Liu, Ping-Li Sun, Hongwen Gao

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Modulation of PC1/3 activity by a rare double-site homozygous mutation par Yanyan Ni, Xiangxiang Chen, Yi Sun, Jiarong Pan, Chao Tang, Tianming Yuan

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