Results 251 to 260 of about 237,110 (353)

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

Monogenic defects in Russian children with autism spectrum disorders. [PDF]

World J Clin Pediatr
Suspitsin EN, Malysheva KS, Laptiev SA, Sharonova OS, Abuzova AS, Kuznitsyna AA, Melashenko TV, Efremova OV, Korzun PR, Binnatova JO, Gorgul YA, Syomina MV, Imyanitov EN.   +12 more
europepmc   +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

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children. [PDF]

Int J Mol Sci
Mancuso G, Serventi L, Cocco C, Lai F, Soddu C, Marica M, Mereu C, Lorrai M, Tosone GM, Cannas F, Nutile G, Floris M, Savasta S, Giglio S.   +13 more
europepmc   +1 more source

Genomic signature driving preinvasive to invasive processes in stage I lung adenocarcinoma

International Journal of Cancer, EarlyView.
What's New? The progression of lung cancer from minimally invasive adenocarcinoma (MIA) to invasive adenocarcinoma (IA) is a complex process involving molecular and microenvironment changes. Key molecular events that drive the invasion process, however, remain poorly characterized. In this comparison of gene profiles and differentially mutated genes in
Biqin Mou, Yishan Duan, Jing Wang, Tiantian Li, Yuwei Huo, Xia Xiao, Conghui Cui, Zhujun Deng, Qiongxia Hu, Juan Jiang, Yiwei Liang, Sifen Lu, Xintong Tao, Kang Xie, Xinru Xiong, Niu Zhu, Liyun Bi, Faqiang Zhang, Weimin Li, Bojiang Chen   +19 more
wiley   +1 more source

Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non-Isolated Clubfoot? [PDF]

Prenat Diagn
de Vries JM, Arduc A, van Leeuwen E, Tan-Sindhunata MB, Struijs P, Witbreuk M, Linskens IH, Pajkrt E.   +7 more
europepmc   +1 more source

Whole Exome Sequencing Identifies Novel Homozygous LGI1 Variant Mimicking ADAM22 -Related Pathologies in a Moroccan Family [PDF]

Hinde El Mouhi, Badreddine Elmakhzen, Amina Bouyahyaoui, Mustapha Hida, Karim Ouldim, Laila Bouguenouch, S. Chaouki   +6 more
openalex   +1 more source

Uncovering the role of genetic polymorphisms in cervical insufficiency

International Journal of Gynecology &Obstetrics, EarlyView.
Pathways and genes implicated in CI pathogenesis. Abstract Cervical insufficiency (CI) is characterized by spontaneous dilation of the cervix in the absence of painful uterine contractions in the mid‐trimester, leading to premature delivery. It is responsible for up to 20% of second trimester pregnancy losses, mostly <24 weeks.
Kallirhoe Kalinderi, Michail Kalinderis, Maria Chatzidimitriou, Liana Fidani   +3 more
wiley   +1 more source

Chinese pan‐cancer patient genomic characteristics: A comprehensive analysis based on the National Cancer Center–Clinical Diagnostics Knowledgebase real‐world clinical sequencing cohort

Interdisciplinary Medicine, EarlyView.
We assembled National Cancer Center–Clinical Diagnostics Knowledgebase, a clinical genomic knowledgebase of 6935 tumors with matched normal samples, revealing key somatic alterations and actionable variants (70.2% of the cohort). Enrichment of certain different gene mutations was observed between Chinese and American populations, along with a strong ...
Hongrui Li, Shun Wang, Guowei Zhao, Jiangtao Li, Xin Li, Bingning Wang, Yi Zhang, Mengfei Yao, Lei Guo, Jianming Ying, Wenbin Li   +10 more
wiley   +1 more source

A whole exome sequencing-based panel assay with boosted clinical content generates a high diagnostic yield in patients with inherited eye diseases

, 2019
Kati Kämpjärvi, Kirsty Wells, Miika Mehine, Johanna Känsäkoski, Laura Sarantaus, Hanna Västinsalo, Jennifer Schleit, Inka Saarinen, Mikko Muona, Samuel Myllykangas, Tero‐Pekka Alastalo, Juha Koskenvuo, Jussi Paananen, Sari Tuupanen   +13 more
openalex   +1 more source