Search results for " Genetica"

INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL C…

2016

INTELLECTUAL DISABILITY, EPILEPSY, MILD DYSMORPHISMS, 22q11.2 DISTAL DUPLICATION

Disabilità Intellettiva, riarrangiamenti genomici, ittioli

2015

Ittiosi, disabilità intellettiva, riarrangiamenti genomici

TUBEROUS SCLEROSIS COMPLEX IN A PATIENT CARRYING AN ATYPICAL GENOMIC REARRANGEMENT

2015

TUBEROUS SCLEROSIS, GENOMIC REARRANGEMENT

Diagnosi precoce di disabilità intellettiva sindromica

2015

delezione 17p11.2, Sindrome di Smith-Magenis, anomalie congenite multiple

Approccio al neonato con sindrome malformativa: ABC di genetica clinica

2008

Genetica e laboratorio di medicina legale

2011

CARATTERIZZAZIONE MORFOLOGICA E GENETICA DI POPOLAZIONI DI CAPPARIS SPINOSA L. IN SICILIA.

2011

Genotyping of sicilian Ophrys (Orchidaceae) from Parco delle Madonie

2008

The mitotic kinase Aurora-A promotes distant metastases by inducing epithelial-to-mesenchymal transition in ERα+ breast cancer cells

2013

In this study, we demonstrate that constitutive activation of Raf-1 oncogenic signaling induces stabilization and accumulation of Aurora-A mitotic kinase that ultimately drives the transition from an epithelial to a highly invasive mesenchymal phenotype in estrogen receptor α-positive (ERα(+)) breast cancer cells. The transition from an epithelial- to a mesenchymal-like phenotype was characterized by reduced expression of ERα, HER-2/Neu overexpression and loss of CD24 surface receptor (CD24(-/low)). Importantly, expression of key epithelial-to-mesenchymal transition (EMT) markers and upregulation of the stemness gene SOX2 was linked to acquisition of stem cell-like properties such as the ab…

Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Itali…

2022

Constitutional BRCA1/BRCA2 pathogenic or likely pathogenic variants (PVs) are associated with an increased risk for developing breast and ovarian cancers. Current evidence indicates that BRCA1/2 PVs are also associated with pancreatic cancer, and that BRCA2 PVs are associated with prostate cancer risk. The identification of carriers of constitutional PVs in the BRCA1/2 genes allows the implementation of individual and family prevention pathways, through validated screening programs and risk-reducing strategies. According to the relevant and increasing therapeutic predictive implications, the inclusion of BRCA testing in the routine management of patients with breast, ovarian, pancreatic and…