Results 181 to 190 of about 27,794 (295)

Case Report: A rare chromosomal imbalance with dup 7q36.3-qter and del 7pter-p22.3 arising from parental pericentric inversion. [PDF]

open access: yesFront Genet
Lin R   +14 more
europepmc   +1 more source

Isodicentric Y chromosome with SRY duplication in a female with complete gonadal dysgenesis. [PDF]

open access: yesMol Cytogenet
Salmaninejad A   +6 more
europepmc   +1 more source

New cell lines expanding the diversity of Ewing sarcoma models

open access: yesInternational Journal of Cancer, EarlyView.
What's New? A chromosomal translocation between the EWSR1 and ETS genes is the key oncogenic driver in Ewing sarcoma. EWSR1::FLI1, the most frequent fusion, is subdivided into different fusion types with unclear prognostic relevance. Here, the authors describe the establishment and characterization of four new, intrinsically immortal, patient‐derived ...
Maximilian Kerkhoff   +13 more
wiley   +1 more source

A unique case of prenatal diagnosis of vascular Ehlers‐Danlos syndrome

open access: yesInternational Journal of Gynecology &Obstetrics, EarlyView.
Abstract We present a rare instance of prenatal diagnosis of vEDS without a family history. The suspicion of a genetic syndrome arose from an incidental ultrasound finding of a facial anomaly—previously associated with vEDS in adulthood but never described prenatally.
Emma Bertucci   +5 more
wiley   +1 more source

Detection of blaNDM‐1 and blaIMP‐1 Metallo‐β‐Lactamases in Meropenem‐Resistant Clinical Escherichia coli Isolates Using Modified Carbapenem Inactivation Method (mCIM) and PCR Techniques

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
This study examines the prevalence of blaNDM‐1 and blaIMP‐1 metallo‐β‐lactamase genes in meropenem‐resistant Escherichia coli isolates using mCIM and PCR. The results indicate a higher prevalence of blaNDM‐1 and suggest the presence of alternative resistance mechanisms in some strains, emphasizing the need for further research on antimicrobial ...
Mehdi Roshdi Maleki
wiley   +1 more source

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