Results 191 to 200 of about 122,559 (261)

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia. [PDF]

Int J Womens Health
Mei Y, Li J, Zhang L, Wei X, Xu Q, Shen C, Qin Y, Zhong Q, Li Y.   +8 more
europepmc   +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

Promises and Pitfalls of Whole Exome Sequencing in Therapy-Resistant Chronic Thrombocytopenia in Childhood: A Case Report. [PDF]

J Pers Med
Györke E, Benyó G, Árvai KB, Bödör C, Kereskai L, Ábrahám H, Réger B, Egyed B, Ottóffy G.   +8 more
europepmc   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students. [PDF]

PLoS One
Klapwijk JE, Van der Schoot V, Polak MG, Lou S, Vogel I, Jansen-Bakkeren IM, Diderich KEM, Dijkstra K, Riedijk SR.   +8 more
europepmc   +1 more source

Surgical Removal of Residual Tumor Masses in Patients Undergoing Targeted Therapy for EGFR‐Mutated Locally Advanced or Metastatic Lung Cancer

International Journal of Cancer, EarlyView.
Non‐small cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) mutations often exhibit significant tumor reduction following tyrosine kinase inhibitor (TKI) therapy. Residual tumors frequently remain, however, leading to drug resistance and disease progression.
Fedor Moiseenko, Daniil Stroyakovskiy, Evgeniy Levchenko, Mikhail Fedyanin, Albina Gabina, Ani Oganesian, Sergey Belukhin, Maria Stepanova, Ekaterina Stepanova, Elizaveta Artemyeva, Alexander Myslik, Nikita Volkov, Alexei Bogdanov, Tatiana Shuginova, Kirill Kryukov, Valeria Kheinshtein, Arif Allakhverdiev, Ivan Zaberegniy, Yana Akhmadiyarova, Mikhail Popov, Anastasiya Danilova, Dmitriy Sehniaidze, Nikita Savelov, Nikita Levchenko, Evgeniy Slugin, Olga Lopushanskaya, Ekaterina Kuligina, Svetlana Aleksakhina, Aglaya Iyevleva, Alexandr Ivantsov, Vladimir Moiseyenko, Evgeny Imyanitov   +31 more
wiley   +1 more source

Clinical Exome Sequencing in Unexplained Hyperferritinemia Reveals Digenic and Oligogenic Inheritance Beyond Iron Homeostasis. [PDF]

Liver Int
Morel P, Silva Rodriguez M, Benmouffek C, Goksen B, Chéry C, Haghnejad V, Bensenane M, Feillet F, Guéant JL, Namour F, Bronowicki JP, Oussalah A.   +11 more
europepmc   +1 more source