Results 91 to 100 of about 51,568 (249)

Primary Pulmonary Mesenchymal Neoplasm With EWSR1::CREM Fusion: Cytologic Findings and Molecular Diagnosis

Diagnostic Cytopathology, EarlyView.
ABSTRACT Background Primary pulmonary mesenchymal neoplasms with EWSR1::CREM fusion are rare. These lesions are challenging to diagnose by morphology and immunohistochemistry alone. Case A 66‐year‐old woman (ex‐smoker) was found to have a 1.3‐cm right lower lobe lung nodule that had grown very slowly over a 9‐year period.
Priya Upadhyay, Sanjay Mukhopadhyay, Swikrity U. Baskota   +2 more
wiley   +1 more source

Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques. [PDF]

Mol Cytogenet, 2022
He P, Wei X, Xu Y, Huang J, Tang N, Yan T, Yang C, Lu K.   +7 more
europepmc   +1 more source

Структурные перестройки хромосом в микроэволюции

Фактори експериментальної еволюції організмів, 2014
Aims. The study aims at clarifying the evolutionary role of chromosomal rearrangements. Methods. The results of long-term cytogenetic studies of rodents Phodopus, Mus, Ruttus, Alexandromys, Sorex, including the electron microscopic analysis of ...
Е. С. Левенкова
doaj  

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

Micro/Nanostructured Materials and Microfluidic Diagnostic Platforms Enable Multimodal Detection of Circulating Tumor Cells

Exploration, EarlyView.
Engineered micro/nanomaterials enable high‐efficiency CTC capture, release, and multimodal molecular profiling. Integrated with AI‐driven analytics, these platforms decode tumor heterogeneity and metastatic dynamics, advancing real‐time monitoring and precision oncology through DNA, RNA, and protein cross‐scale data fusion.
Hao Li, Jiaojiao Sun, Kunguo Liu, Shijie Wang, Bowen Fu, Hong Zhu, Peng Cao, Xin Han   +7 more
wiley   +1 more source

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier. [PDF]

Hum Genet, 2021
Eisfeldt J, Pettersson M, Petri A, Nilsson D, Feuk L, Lindstrand A.   +5 more
europepmc   +1 more source

Sizing and concentration analysis of cfDNA using Biabooster technology: Results from a prospective plasma‐based collection of 77 patients with locally advanced unresectable esophageal cancer

International Journal of Cancer, EarlyView.
What's New? This study introduces a novel approach for detecting locally advanced esophageal carcinoma using cell‐free DNA (cfDNA) analysis through a highly sensitive fragmentome assay. Unlike traditional sequencing‐based methods that are limited by the absence of specific mutations in esophageal tumors, our method offers an alternative by quantifying ...
Anouchka Modesto, Sophie Gibert, Caroline Delmas, David Tougeron, Amaury Paumier, Alexandre Taillez, Samuel Le Sourd, Delphine Argo Leignel, Philippe Ronchin, Ariane Darut Jouve, Véronique Vendrely, Olivier Riou, Jérôme Martin‐Babau, Thomas Leroy, Laurent Quéro, Naïma Hanoun, Pierre Cordelier, Veronica Pezzella, Jean Pierre Delord, Rosine Guimbaud, Elizabeth Moyal, Catherine Seva   +21 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