Výsledky vyhledávání - "multigene sequencing"

Akademický článek

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience

Autor: Auhood Nassar, Abdel Rahman N. Zekri, Mostafa H. Elberry, Ahmed M. Lymona, Mai M. Lotfy, Mohamed Abouelhoda, Amira Salah El-Din Youssef

Publikováno v: Current Issues in Molecular Biology, Vol 44, Iss 12, Pp 5890-5901 (2022)

This study aimed to investigate the impact of somatic mutations on various interleukin signaling pathways associated with grade II invasive breast cancer (BC) in Egyptian patients to broaden our understanding of their role in promoting carcinogenesis

Externí odkaz: https://doaj.org/article/49c06e94543a48b7bed8ebe55195f670

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Akademický článek

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

Autor: Nathalia Liberatoscioli Menezes Andrade, Mariana Ferreira de Assis Funari, Alexsandra Christianne Malaquias, Paulo Ferrez Collett-Solberg, Nathalia L R A Gomes, Renata Scalco, Naiara Castelo Branco Dantas, Raissa C Rezende, Angelica M F P Tiburcio, Micheline A R Souza, Bruna L Freire, Ana C V Krepischi, Carlos Alberto Longui, Antonio Marcondes Lerario, Ivo J P Arnhold, Alexander A L Jorge, Gabriela Andrade Vasques

Publikováno v: Endocrine Connections, Vol 11, Iss 12, Pp 1-10 (2022)

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multige

Externí odkaz: https://doaj.org/article/46443fe98cf943f5b3ad2294e1be10d0

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Akademický článek

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Akademický článek

Multigene Panel Sequencing Reveals Cancer-Specific and Common Somatic Mutations in Colorectal Cancer Patients: An Egyptian Experience

Autor: Amira Salah El-Din Youssef, Mohamed A. Abdel-Fattah, Mai M. Lotfy, Auhood Nassar, Mohamed Abouelhoda, Ahmed O. Touny, Zeinab K. Hassan, Mohammed Mohey Eldin, Abeer A. Bahnassy, Hussein Khaled, Abdel Rahman N. Zekri

Publikováno v: Current Issues in Molecular Biology, Vol 44, Iss 3, Pp 1332-1352 (2022)

This study aims at identifying common pathogenic somatic mutations at different stages of colorectal carcinogenesis in Egyptian patients. Our cohort included colonoscopic biopsies collected from 120 patients: 20 biopsies from patients with inflammato

Externí odkaz: https://doaj.org/article/2ceaa55a5a3441bc836a466de9c71894

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Akademický článek

Expanding the phenotype of E318K (c.952G > A) MITF germline mutation carriers: case series and review of the literature

Autor: Leandro Jonata Carvalho Oliveira, Aline Bobato Lara Gongora, Fabiola Ambrosio Silveira Lima, Felipe Sales Nogueira Amorim Canedo, Carla Vanessa Quirino, Janina Pontes Pisani, Maria Isabel Achatz, Benedito Mauro Rossi

Publikováno v: Hereditary Cancer in Clinical Practice, Vol 19, Iss 1, Pp 1-9 (2021)

Abstract Background The microphthalmia-associated transcription factor gene (MITF) belongs to the MYC supergene family and plays an important role in melanocytes’ homeostasis. Individuals harboring MITF germline pathogenic variants are at increased

Externí odkaz: https://doaj.org/article/f1c22db6e24c454f93649949e932c1a5

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Akademický článek

Evaluation of the ASTA MicroIDSys matrix-assisted laser desorption ionization time-of-flight mass spectrometry system for identification of mycobacteria directly from positive MGIT liquid cultures

Autor: In Young Yoo, Hyang Jin Shim, Sun Ae Yun, On Kyun Kang, Yoo Na Chung, Tae Yeul Kim, Hyeyoung Lee, Jayoung Kim, Yeon-Joon Park, Hee Jae Huh, Nam Yong Lee

Publikováno v: International Journal of Infectious Diseases, Vol 102, Iss , Pp 172-177 (2021)

Objectives: We evaluated the performance of the MicroIDSys Elite system, a newly developed matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF) mass spectrometry system for identification of mycobacteria directly from positive MGIT

Externí odkaz: https://doaj.org/article/fa0757b91bb54d08955372ffce5e53e8

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Akademický článek

Molecular Identification and Genetic Characterization of Early-Stage Multiple Primary Lung Cancer by Large-Panel Next-Generation Sequencing Analysis

Autor: Guotian Pei, Mingwei Li, Xianjun Min, Qiang Liu, Dasheng Li, Yingshun Yang, Shuai Wang, Xiaoyu Wang, Huina Wang, Huanqing Cheng, Shanbo Cao, Yuqing Huang

Publikováno v: Frontiers in Oncology, Vol 11 (2021)

ObjectiveThe incidence of early stage multiple primary lung cancer (MPLC) has been increasing in recent years, while the ideal strategy for its diagnosis and treatment remains controversial. The present study conducted genomic analysis to identify a

Externí odkaz: https://doaj.org/article/980d78cceefd4ae2903bf08e5dcaecb4

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