Author

M. Rydzanicz

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Open access Aug 2026

EP1137 - ECE_2413 - The importance of cell adhesion molecules CADM2/3 and miR-127 and miR432 for clinically non-functioning pituitary tumours

The exact molecular mechanisms driving non-functioning-PitNETs invasiveness are still unclear, and reliable molecular biomarkers remain unknown. Although, the role of microRNAs (miRs) as promising markers of invasiveness in other PitNETs is increasingly highlighted. Our study aimed to identify novel miRs and diff...

B. Rak-Makowska, S. Barry, M. Maksymowicz et al. · European Journal of Endocrin... · 0 citations

Open access Jul 2026

TANGO2-related metabolic encephalopathy–arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report

A case of a child with confirmed 22q11.2 deletion syndrome in whom a coexisting variant in the TANGO2 gene was diagnosed at the age of 5 after first metabolic crisis with rhabdomyolysis, demonstrating that exome sequencing should be pursued early when atypical features emerge in patients with established genetic diagno...

Ewa Grzywna-Rozenek, Ł. Sędek, M. Rydzanicz et al. · BMC Pediatrics · 0 citations