Results 221 to 230 of about 92,581 (302)

Clonal Expansion of <i>penA</i>-60.001 in Cephalosporin-Resistant <i>Neisseria gonorrhoeae</i>: A Molecular Epidemiology Study in Meizhou, China, 2020-2024. [PDF]

Infect Drug Resist
Li Q, Qiu Q, Gu H, Huang Z, Luo Y, Guo X.   +5 more
europepmc   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

The role of hormonal markers in predicting reproductive lifespan in girls with Turner syndrome-a retrospective study. [PDF]

J Endocr Soc
van der Coelen S, Sas T, Richter-Unruh A, Braat D, Fleischer K, Nadesapillai S, IntHout J, van der Velden J.   +7 more
europepmc   +1 more source

High incidence of Y‐chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy

Epilepsia, EarlyView.
Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini, Till Hartlieb, Ahmed Gaballa, Katja Kobow, Mitali Katoch, Paraskevi Chasani, Georgia Vasileiou, Wiebke Hofer, Lea M. Reisch, Manfred Kudernatsch, Christian G. Bien, Roland Coras, Ingmar Blümcke, Lucas Hoffmann   +13 more
wiley   +1 more source

Robust registration under large image misalignment using an iterative step-aware transformer with application to corneal confocal microscopy. [PDF]

Biomed Opt Express
Chen Z, Zemborain ZZ, Ruiz-Lozano RE, Quiroga-Garza ME, Ma S, Soifer M, Azar NS, Mousa HM, Perez VL, Farsiu S.   +9 more
europepmc   +1 more source

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, Carlotta Stipa, Elisa Mannini, Raffaella Minardi, Barbara Mostacci, Valentina Tontini, Tommaso Pippucci, Francesca Bisulli, Pamela Magini   +10 more
wiley   +1 more source

Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.

J Clin Endocrinol Metab
Cole Y, Howarth S, Javaid A, Tarpey P, Scoffings D, Maher ER, Godfrey AL, Pacak K, Zhuang Z, Alkaissi H, Casey RT.   +10 more
europepmc   +1 more source

Computed Tomography Patterns of <i>Pneumocystis jirovecii</i> Pneumonia According to Immune Status. [PDF]

Diagnostics (Basel)
Parra-Fariñas R, Infante-Armisen J, Cifrián-Casuso P, Belhassen-García M, Pardo-Lledías J, Parra-Blanco JA.   +5 more
europepmc   +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