Search Results - "Mussa, Alessandro"

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol by Mussa, Alessandro, MD, PhD, Molinatto, Cristina, MD, Baldassarre, Giuseppina, MD, Riberi, Evelise, PhD, Russo, Silvia, PhD, Larizza, Lidia, MD, PhD, Riccio, Andrea, MD, PhD, Ferrero, Giovanni Battista, MD, PhD

“…Objective To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM),…”
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Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement by Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-Walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., Lapunzina, Pablo, Le Bouc, Yves, Maas, Saskia M., Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C., Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thomas, Mackay, Deborah J. G., Riccio, Andrea, Maher, Eamonn R.

“…Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement…”
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Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome by Mussa, Alessandro, Molinatto, Cristina, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Baldassarre, Giuseppina, Carli, Diana, Peris, Clementina, Riccio, Andrea, Ferrero, Giovanni Battista

“…The emerging association of assisted reproductive techniques (ART) with imprinting disorders represents a major issue in the scientific debate on infertility…”
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Syndromic Disorders Caused by Disturbed Human Imprinting by Carli, Diana, Riberi, Evelise, Ferrero, Giovanni Battista, Mussa, Alessandro

“…Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic imprinting, affecting prenatal and postnatal growth, neurocognitive…”
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Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS) by Tuli, Gerdi, Munarin, Jessica, Mussa, Alessandro, Carli, Diana, Gastaldi, Roberto, Borgia, Paola, Vigone, Maria Cristina, Abbate, Marco, Ferrero, Giovanni Battista, De Sanctis, Luisa

“…Purpose To report the incidence of 4–12% of differentiated thyroid cancer (DTC) and up to 50% of benign thyroid nodular disease and to describe nodular thyroid…”
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Predictors of Malignancy in Children with Thyroid Nodules by Mussa, Alessandro, MD, PhD, De Andrea, Maurilio, MD, Motta, Manuela, MD, Mormile, Alberto, MD, Palestini, Nicola, MD, Corrias, Andrea, MD

“…Objective To evaluate the diagnostic accuracy of clinical, laboratory, and ultrasound (US) imaging characteristics of thyroid nodules in assessing the…”
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Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus by Valente, Federica Maria, Sparago, Angela, Freschi, Andrea, Hill-Harfe, Katherine, Maas, Saskia M., Frints, Suzanna Gerarda Maria, Alders, Marielle, Pignata, Laura, Franzese, Monica, Angelini, Claudia, Carli, Diana, Mussa, Alessandro, Gazzin, Andrea, Gabbarini, Fulvio, Acurzio, Basilia, Ferrero, Giovanni Battista, Bliek, Jet, Williams, Charles A., Riccio, Andrea, Cerrato, Flavia

“…Purpose Beckwith–Wiedemann syndrome (BWS) is a developmental disorder caused by dysregulation of the imprinted gene cluster of chromosome 11p15.5 and often…”
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Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome by Davico, Chiara, Borgogno, Marta, Campagna, Filippa, D'Alessandro, Rossella, Ricci, Federica, Amianto, Federico, Mussa, Alessandro, Carli, Diana, Ferrero, Giovanni Battista, Vitiello, Benedetto

“…The objective of this study was to examine psychopathology and its impact on adaptive functioning in a sample of patients affected by Noonan syndrome (NS), a…”
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Bedside lung ultrasound in the assessment of alveolar-interstitial syndrome by Volpicelli, Giovanni, Mussa, Alessandro, Garofalo, Giorgio, Cardinale, Luciano, Casoli, Giovanna, Perotto, Fabio, Fava, Cesare, Frascisco, Mauro

“…To assess the potential of bedside lung ultrasound to diagnose the radiologic alveolar-interstitial syndrome (AIS) in patients admitted to an emergency…”
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Graves Disease in Children: Thyroid-Stimulating Hormone Receptor Antibodies as Remission Markers by Gastaldi, Roberto, MD, Poggi, Elena, MD, Mussa, Alessandro, MD, Weber, Giovanna, MD, Vigone, Maria Cristina, MD, Salerno, Mariacarolina, MD, Delvecchio, Maurizio, MD, Peroni, Elena, MD, Pistorio, Angela, MD, Corrias, Andrea, MD

“…Objective To evaluate clinical and biochemical features of 115 children (98 female, mean age 11.3 ± 3.5 years) with Graves disease to identify possible…”
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The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases by Chiesa, Nicoletta, De Crescenzo, Agostina, Mishra, Kankadeb, Perone, Lucia, Carella, Massimo, Palumbo, Orazio, Mussa, Alessandro, Sparago, Angela, Cerrato, Flavia, Russo, Silvia, Lapi, Elisabetta, Cubellis, Maria Vittoria, Kanduri, Chandrasekhar, Cirillo Silengo, Margherita, Riccio, Andrea, Ferrero, Giovanni Battista

“…A cluster of imprinted genes at chromosome 11p15.5 is associated with the growth disorders, Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome…”
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The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum by Mussa, Alessandro, Duffy, Kelly A., Carli, Diana, Griff, Jessica R., Fagiano, Riccardo, Kupa, Jonida, Brodeur, Garrett M., Ferrero, Giovanni Battista, Kalish, Jennifer M.

“…Purpose It is well documented that patients with Beckwith–Wiedemann spectrum (BWS) have a significantly higher risk of developing Wilms tumor (WT) than the…”
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The broad spectrum of COVID-like patients initially negative at RT-PCR testing: a cohort study by Caramello, Valeria, Macciotta, Alessandra, Bar, Fabrizio, Mussa, Alessandro, De Leo, Anna Maria, De Salve, Alessandro Vincenzo, Nota, Fabio, Sacerdote, Carlotta, Ricceri, Fulvio, Boccuzzi, Adriana

“…Patients that arrive in the emergency department (ED) with COVID-19-like syndromes testing negative at the first RT-PCR represent a clinical challenge because…”
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Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib by Gazzin, Andrea, Fornari, Federico, Cardaropoli, Simona, Carli, Diana, Tartaglia, Marco, Ferrero, Giovanni Battista, Mussa, Alessandro

“…The RASopathies are a group of syndromes caused by genetic variants that affect the RAS-MAPK signaling pathway, which is essential for cell response to diverse…”
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Prevalence of beckwith-wiedemann syndrome in North West of Italy by Mussa, Alessandro, Russo, Silvia, De Crescenzo, Agostina, Chiesa, Nicoletta, Molinatto, Cristina, Selicorni, Angelo, Richiardi, Lorenzo, Larizza, Lidia, Silengo, Margherita Cirillo, Riccio, Andrea, Ferrero, Giovanni Battista

“…ABSTRACT Although Beckwith–Wiedemann syndrome (BWS, OMIM #130650) is the most common genetic overgrowth disorder, data on its epidemiology are scanty and the…”
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Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al by Resta, Nicoletta, Calabrese, Olga, Grossi, Valentina, Lugli, Licia, Simone, Cristiano, Ranieri, Carlotta, Piglionica, Marilidia, Lepore Signorile, Martina, Rossi, Katia, Carli, Diana, Mussa, Alessandro

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Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question by Quarello, Paola, Perotti, Daniela, Carli, Diana, Giorgio, Elisa, Sirchia, Fabio, Brusco, Alfredo, Ferrero, Giovanni Battista, Mussa, Alessandro, Spadea, Manuela, Ciceri, Sara, Spreafico, Filippo, Fagioli, Franca

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Effect of initial levothyroxine dose on neurodevelopmental and growth outcomes in children with congenital hypothyroidism by Esposito, Andrea, Vigone, Maria Cristina, Polizzi, Miriam, Wasniewska, Malgorzata Gabriela, Cassio, Alessandra, Mussa, Alessandro, Gastaldi, Roberto, Di Mase, Raffaella, Vincenzi, Gaia, Pozzi, Clara, Peroni, Elena, Bravaccio, Carmela, Capalbo, Donatella, Bruzzese, Dario, Salerno, Mariacarolina

“…Objectives We designed a multicentre open prospective randomized trial to evaluate the risk-benefit profile of two different initial treatment schemes with…”
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Bedside ultrasound of the lung for the monitoring of acute decompensated heart failure by Volpicelli, Giovanni, MD, Caramello, Valeria, MD, Cardinale, Luciano, MD, Mussa, Alessandro, MD, Bar, Fabrizio, MD, Frascisco, Mauro F., MD

“…Abstract Purposes Multiple artifacts B lines (B+) at transthoracic lung ultrasound have been proposed as a sonographic sign of pulmonary congestion. Our aim is…”
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Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure by Saglia, Claudia, Bracciamà, Valeria, Trotta, Luca, Mioli, Fiorenza, Faini, Angelo Corso, Brach Del Prever, Giulia Margherita, Kalantari, Silvia, Luca, Maria, Romeo, Carmelo Maria, Scolari, Caterina, Peruzzi, Licia, Calvo, Pier Luigi, Mussa, Alessandro, Fenoglio, Roberta, Roccatello, Dario, Alberti, Claudio, Carli, Diana, Amoroso, Antonio, Deaglio, Silvia, Vaisitti, Tiziana

“…In 2018, our center started a program to offer genetic diagnosis to patients with kidney and liver monogenic rare conditions, potentially eligible for organ…”
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