Results 1 to 10 of about 67,375 (266)

Identification of a Novel, Oncogenic and Targetable <i>TPR::ABL2</i> Fusion Gene in T-Cell Acute Lymphoblastic Leukaemia. [PDF]

EJHaem
ABSTRACT ABL2 rearrangements represent a subtype of acute lymphoblastic leukaemia (ALL) associated with poor prognosis and survival. This study reports a high‐risk T‐cell ALL (T‐ALL) case with a novel TPR::ABL2 gene fusion resulting from a chromosomal deletion.
Lagonik E, Page EC, Eadie LN, Schutz CE, Rehn JA, Heatley SL, Moore AS, Healy M, Whyte M, Hughes TP, Yeung DT, White DL.   +11 more
europepmc   +2 more sources

Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract. [PDF]

Front Pediatr
Gong X, Liu Y, Liang H.
europepmc   +1 more source

Case Report: Novel ASAP1::BRAF fusion in a young adult with low-grade temporal lobe glioma. [PDF]

Front Oncol
Gerasimou P, Vrachnos D, Kyprianou Y, Elpidoforou A, Miltiadous A, Mitsidou A, Nicolaou K, Shianiou G, Zartila C, Ioannou C, Christofi A, Georgiou E, Avgousti C, Kanezou M, Johnson M, Papanastassiou V, Oxinou C, Theodorou M, Shiarli AM, Antoniades A, Chi J, Costeas P.   +21 more
europepmc   +1 more source

High prevalence of tetracycline resistance in <i>Neisseria gonorrhoeae</i> across 22 European countries, 2024. [PDF]

Euro Surveill
Jacobsson S, Cole MJ, Jansen van Rensburg M, Schröder D, Mårdh O, Ködmön C, Unemo M, Euro-GASP tetracycline study group, Collaborators: Euro-GASP tetracycline study group.   +8 more
europepmc   +1 more source

Comparative evaluation of disc diffusion and broth microdilution methods for aztreonam/avibactam susceptibility testing in Enterobacterales. [PDF]

J Antimicrob Chemother
Baltas I, Tsakri D, Vourli S, Solanki H, Murrell E, Kiousi E, Tsakris Z, Kuczmar G, Smyrni N, Skiadas I, Grammelis V, Hatcher J, Menegas D, Tsakris A, Vrioni G, Grandjean L.   +15 more
europepmc   +1 more source

Breakpoint-resolved balanced t(2;12)(q35;q24.31) disrupting <i>HNF1A</i> in multigenerational MODY-3: Diagnostic utility of long-read genome sequencing and therapeutic impact. [PDF]

Metabol Open
Rivero-García P, Mutchinick OM, Huerta-Ávila E, Colorado IA, Alfonso-López C, Rivera-Juárez R, Santiago-Cano V, Morales-Suárez JJ, Hidalgo-Miranda A, Svyryd Y.   +9 more
europepmc   +1 more source

A method for measuring first glymphatic influx of a cerebrospinal fluid tracer in the human brain. [PDF]

Front Neurosci
Pripp AH, Ringstad G, Valnes LM, Eide PK.   +3 more
europepmc   +1 more source

Antibiotic Susceptibility of <i>Nocardia</i> Clinical Isolates Collected from Chinese Patients - China, 2014-2024. [PDF]

China CDC Wkly
Zhao P, Xu S, Yuan M, Liu Z, Qiu X, Li Z.   +5 more
europepmc   +1 more source