Explanipedia

Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study) Open

Francesca Romana Grati, Ilaria Bestetti, Daria de Siero, Francesca Malvestiti, Nicoletta Villa , et al. · 2022

Objectives To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods Prenatal diagnostic test results obtained by Italian laboratori…

Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? – a case report Open

Erica Rosina, Berardo Rinaldi, Rosamaria Silipigni, Luca Bergamaschi, Giovanna Gattuso , et al. · 2021

The Core Stem Genes SOX2, POU5F1/OCT4, and NANOG Are Expressed in Human Parathyroid Tumors and Modulated by MEN1, YAP1, and β-catenin Pathways Activation Open

Chiara Verdelli, Annamaria Morotti, Giulia Stefania Tavanti, Rosamaria Silipigni, Silvana Guerneri , et al. · 2021

Tumors of the parathyroid glands are the second most common endocrine neoplasia. Epigenetic studies revealed an embryonic signature involved in parathyroid tumorigenesis. Here, we investigated the expression of the stem core genes SOX2, PO…

Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors Open

Giulia Stefania Tavanti, Chiara Verdelli, Annamaria Morotti, Paola Maroni, Vito Guarnieri , et al. · 2021

The Hippo pathway is involved in human tumorigenesis and tissue repair. Here, we investigated the Hippo coactivator Yes-associated protein 1 (YAP1) and the kinase large tumor suppressor 1/2 (LATS1/2) in tumors of the parathyroid glands, wh…

Incidental finding of APC deletion in a child: double trouble or double chance? – a case report Open

Erica Rosina, Berardo Rinaldi, Rosamaria Silipigni, Luca Bergamaschi, Giovanna Gattuso , et al. · 2021

Author response for "CYTOGENETIC STUDY IN PRIMARY MYELOFIBROSIS AT DIAGNOSIS: CLINICAL AND HISTOLOGICAL ASSOCIATION AND IMPACT ON SURVIVAL ACCORDING TO WHO 2017 CLASSIFICATION IN AN ITALIAN MULTICENTER SERIES" Open

Alessandra Iurlo, Francesca Palandri, Elena Maria Elli, Daniele Cattaneo, Cristina Bucelli , et al. · 2020

The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors Open

Annamaria Morotti, Irene Forno, Chiara Verdelli, Vito Guarnieri, Filomena Cetani , et al. · 2020

A role for long non-coding RNAs (lncRNAs) in endocrine cancer pathogenesis is emerging. However, knowledge regarding their expression pattern, correlation with known genetic defects, and clinical implications in parathyroid tumors is still…

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations Open

R. Villa, V.G.C. Fergnani, Rosamaria Silipigni, Silvana Guerneri, Claudia Cinnante , et al. · 2020

Small supernumerary marker chromosomes: A legacy of trisomy rescue? Open

Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, Massimo Delledonne, Alfredo Brusco , et al. · 2018

We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sS…

PO-450 Interplay between coding and non-coding genome in human parathyroid tumours Open

Annamaria Morotti, Irene Forno, Chiara Verdelli, Vito Guarnieri, Andrea Terrasi , et al. · 2018

a superior anti-tumour activity in vivo, in both cell line derived and patient-derived xenograft models.Conclusion The AP-1 transcriptional complex plays an important role in the resistance mechanism of HNSCC and ESCC cancer to inhibition …

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases Open

Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin , et al. · 2017

Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status Open

Chiara Pesenti, Leda Paganini, Laura Fontana, Emanuela Veniani, Letterio Runza , et al. · 2017

The World Health Organization recently revised the diagnosis of glioma, to integrate molecular parameters, including IDH mutations and codeletion (loss of heterozygosity; LOH) of chromosome arms 1p/19q, into the definitions of adult glioma…

Additional file 1: of Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases Open

Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin , et al. · 2017

Clinical data of pregnancies and exposition to known environmental risk factors. (XLS 23Â kb)

Additional file 2: of Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases Open

Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin , et al. · 2017

A and B: Array CGH results indicating copy number variants and their pathogenic significance. (ZIP 30Â kb)

MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective ofIDHStatus and Chromosome 10q Deletion Open

Laura Fontana, Silvia Tabano, Eleonora Bonaparte, Giovanni Marfia, Chiara Pesenti , et al. · 2016

Several molecular markers drive diagnostic classification, prognostic stratification, and/or prediction of response to therapy in patients with gliomas. Among them, IDH gene mutations are valuable markers for defining subtypes and are stro…

Insights into 6q21‐q22: Refinement of the critical region for acro‐cardio‐facial syndrome Open

Donatella Milani, Giulia Cagnoli, Marco Baccarin, Enrico Alfei, Silvana Guerneri , et al. · 2016

Deletions on chromosome 6q are rarely reported in the literature, and genotype‐phenotype correlations are poorly understood. We report a child with a deletion of the 6q21‐q22 chromosomal region, providing some intriguing results about the …

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi Open

Leda Paganini, Nicole Carlessi, Laura Fontana, Rosamaria Silipigni, Silvia Motta , et al. · 2015

BeckwithâWiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh …

HOXA genes cluster: clinical implications of the smallest deletion Open

Lidia Pezzani, Donatella Milani, Francesca Manzoni, Marco Baccarin, Rosamaria Silipigni , et al. · 2015

This report improves our understanding of the genotype-phenotype correlations of HOXA genes cluster deletions via the identification and characterization of the smallest deletion (as well as critical region) reported to date. In particular…

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi Open

Leda Paganini, Nicole Carlessi, Laura Fontana, Rosamaria Silipigni, Silvia Motta , et al. · 2015

Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (C…

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi Open

Leda Paganini, Nicole Carlessi, Laura Fontana, Rosamaria Silipigni, Silvia Motta , et al. · 2015

Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (C…

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi Open

Leda Paganini, Nicole Carlessi, Laura Fontana, Rosamaria Silipigni, Silvia Motta , et al. · 2015

Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (C…

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