Results 131 to 140 of about 75,040 (259)

Identification of Copy Number Variants (CNVs) through bioinformatic analysis of Whole Exome Sequencing (WES) data: a study on a cohort of patients with epilepsy.

reservedNumerosi studi genetici hanno stabilito che, oltre alle varianti a singolo nucleotide (SNV) ed alle piccole inserzioni e delezioni (InDels), anche le varianti del numero di copie (CNV) possono causare epilessia o conferire un rischio genetico ...
GASPARI, TOMMASO FRANCESCO
core  

Immunotherapy for Head and Neck Cutaneous Squamous Cell Carcinoma with Perineural Spread: A Systematic Review

Head &Neck, EarlyView.
ABSTRACT Background Immunotherapy is increasingly used for head and neck cutaneous squamous cell carcinoma (cSCC) with perineural spread (PNS), though outcomes remain poorly defined. Methods A systematic review was conducted according to PRISMA and MOOSE guidelines.
Jai Paris, James Tsimiklis, Ayushi Agarwal, Jessica Y. Tong, Dinesh Selva   +4 more
wiley   +1 more source

A Potential Method to Help Predict Genetic Diseases and Arrange Healthcare: Copy Number Variation Analysis

Erciyes Medical Journal, 2019
Munis Dündar, Saide Betül Arslan
doaj   +1 more source

Gene signatures characterizing driver mutations in lung squamous carcinoma are predictive of the progression of pre‐cancer lesions

International Journal of Cancer, EarlyView.
What's New? Lung squamous cell carcinoma (LUSC) is more aggressive than lung adenocarcinoma, and is most often diagnosed at an advanced stage. Here, the authors evaluated gene expression data from LUSC tumors and came up with gene signatures for 34 genetic abnormalities whose expression changes throughout different precancerous stages. Several of these
Yupei Lin, Venugopalareddy Mekala, Jianrong Li, Xiang Wang, Muhammad Aminu, Jia Wu, Jianjun Zhang, Robert Taylor Ripley, Christopher I. Amos, Chao Cheng   +9 more
wiley   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

High‐Grade B‐Cell Lymphoma With 11q Aberration in Africa: A Differential Diagnosis in Cases With Features of Endemic Burkitt Lymphoma

International Journal of Cancer, EarlyView.
ABSTRACT Fifty years ago, Zech et al. in this journal described for the first time the t(8;14) as a recurrent chromosomal aberration in Burkitt lymphoma (BL). Nevertheless, in regions where BL is not endemic, a subset of lymphomas with features of BL lacks the t(8;14)/IG::MYC and instead represents high‐grade B‐cell lymphoma with 11q aberration (HGBCL ...
Timothy Onyuma, Anja Fischer, Raffaella Guazzo, Mateus H. Gouveia, Noel Onyango, Cristiana Bellan, Susanne Bens, Roberto Boccacci, Michaela Feuring, Massimo Granai, Grace Kiraka, Alexandra G. Kouroukli, Stefano Lazzi, Cosimo Lori, Marianne Wanjiru Mureithi, Joshua Nyagol, Matthias Schlesner, Maria Chiara Siciliano, Margherita Vannucchi, Rabea Wagener, Nicholas Othieno‐Abinya, Sam M. Mbulaiteye, Lorenzo Leoncini, Reiner Siebert   +23 more
wiley   +1 more source

Liquid biopsy across cancers: Integrating circulating biomarkers, tumor biology, artificial intelligence, and clinical translation

Interdisciplinary Medicine, EarlyView.
Liquid biopsy uses non‐invasive sampling of blood or body fluids to isolate circulating analytes, including circulating tumor DNA, circulating tumor cells, extracellular vesicles, and RNA. These are analyzed using next‐generation sequencing, qPCR, and proteomics to inform cancer detection, monitoring, and characterization. Figure created with BioRender.
Jaswinder Singh, Manjeet Kumar, Kajal Kamra   +2 more
wiley   +1 more source

Concordance Study on Molecular Detection of Thyroid Nodules by Ultrasound Guided Fine Needle Aspiration

Journal of Clinical Laboratory Analysis, EarlyView.
This prospective study evaluated the performance of DNA and RNA next‐generation sequencing (NGS) using matched fine‐needle aspiration (FNA) and surgical tissue samples from an analysis cohort of 76 patients. ABSTRACT Background Fine needle aspiration (FNA) constitutes the primary preoperative evaluation for thyroid nodules.
Su Meng, Jianxiong Sun, Changliang Zhang, Zhixue Yang, Jinrong Wei, Si Chen, Yanan Li, Xiaoxiao Dai, Guoqin Jiang   +8 more
wiley   +1 more source

Comparison of Cranial Ultrasound and Amplitude‐Integrated Electroencephalography in Predicting Neurodevelopmental Outcomes in Neonates With Hypoxic–Ischemic Encephalopathy: A Systematic Review and Meta‐Analysis

Journal of Clinical Ultrasound, EarlyView.
In neonates with hypoxic–ischemic encephalopathy (HIE), adverse neurodevelopmental outcomes (NDO) remain common. Amplitude‐integrated EEG demonstrates strong prognostic value for early prediction, while cranial ultrasound (cUS) provides complementary but less definitive information.
Meirong Shu, Shilue Zhong, Bo Bao, Dandan Xu, Yingfeng Jiang, Dongxue Lin, Jingzhi Su   +6 more
wiley   +1 more source

Reward processing in children with affective dysregulation

JCPP Advances, EarlyView.
Abstract Background Affective dysregulation (AD) in children is characterized by irritability, anger, and frequent intense temper outbursts. Considerable evidence implies altered processing of frustration about missed rewards, but few studies investigated the preceding and thus potentially predictive reward anticipation and initial delivery processing ...
Pascal‐M. Aggensteiner, Francisca Giller, Nathalie Holz, Anna Kaiser, Christine Igel, Sarah Hohmann, Manfred Döpfner, Veit Roessner, Christian Beste, Tobias Banaschewski, Daniel Brandeis, on behalf ofthe ADOPT Consortium   +11 more
wiley   +1 more source