Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol
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
Published in The Journal of pediatrics (01.09.2016)
Published in The Journal of pediatrics (01.09.2016)
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Journal Article
Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
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.
Published in Nature reviews. Endocrinology (01.04.2018)
Published in Nature reviews. Endocrinology (01.04.2018)
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Journal Article
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
Mussa, Alessandro, Molinatto, Cristina, Cerrato, Flavia, Palumbo, Orazio, Carella, Massimo, Baldassarre, Giuseppina, Carli, Diana, Peris, Clementina, Riccio, Andrea, Ferrero, Giovanni Battista
Published in Pediatrics (Evanston) (01.07.2017)
Published in Pediatrics (Evanston) (01.07.2017)
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Journal Article
Syndromic Disorders Caused by Disturbed Human Imprinting
Carli, Diana, Riberi, Evelise, Ferrero, Giovanni Battista, Mussa, Alessandro
Published in Journal of clinical research in pediatric endocrinology (01.03.2020)
Published in Journal of clinical research in pediatric endocrinology (01.03.2020)
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Journal Article
Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)
Tuli, Gerdi, Munarin, Jessica, Mussa, Alessandro, Carli, Diana, Gastaldi, Roberto, Borgia, Paola, Vigone, Maria Cristina, Abbate, Marco, Ferrero, Giovanni Battista, De Sanctis, Luisa
Published in Endocrine (01.12.2021)
Published in Endocrine (01.12.2021)
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Journal Article
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
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
Published in Genetics in medicine (01.08.2019)
Published in Genetics in medicine (01.08.2019)
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Journal Article
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome
Davico, Chiara, Borgogno, Marta, Campagna, Filippa, D'Alessandro, Rossella, Ricci, Federica, Amianto, Federico, Mussa, Alessandro, Carli, Diana, Ferrero, Giovanni Battista, Vitiello, Benedetto
Published in Journal of developmental and behavioral pediatrics (01.02.2022)
Published in Journal of developmental and behavioral pediatrics (01.02.2022)
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Journal Article
Bedside lung ultrasound in the assessment of alveolar-interstitial syndrome
Volpicelli, Giovanni, Mussa, Alessandro, Garofalo, Giorgio, Cardinale, Luciano, Casoli, Giovanna, Perotto, Fabio, Fava, Cesare, Frascisco, Mauro
Published in The American journal of emergency medicine (01.10.2006)
Published in The American journal of emergency medicine (01.10.2006)
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Journal Article
Graves Disease in Children: Thyroid-Stimulating Hormone Receptor Antibodies as Remission Markers
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
Published in The Journal of pediatrics (01.05.2014)
Published in The Journal of pediatrics (01.05.2014)
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Journal Article
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases
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
Published in Human molecular genetics (01.01.2012)
Published in Human molecular genetics (01.01.2012)
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Journal Article
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum
Mussa, Alessandro, Duffy, Kelly A., Carli, Diana, Griff, Jessica R., Fagiano, Riccardo, Kupa, Jonida, Brodeur, Garrett M., Ferrero, Giovanni Battista, Kalish, Jennifer M.
Published in Journal of cancer research and clinical oncology (01.12.2019)
Published in Journal of cancer research and clinical oncology (01.12.2019)
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Journal Article
The broad spectrum of COVID-like patients initially negative at RT-PCR testing: a cohort study
Caramello, Valeria, Macciotta, Alessandra, Bar, Fabrizio, Mussa, Alessandro, De Leo, Anna Maria, De Salve, Alessandro Vincenzo, Nota, Fabio, Sacerdote, Carlotta, Ricceri, Fulvio, Boccuzzi, Adriana
Published in BMC public health (07.01.2022)
Published in BMC public health (07.01.2022)
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Journal Article
Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib
Gazzin, Andrea, Fornari, Federico, Cardaropoli, Simona, Carli, Diana, Tartaglia, Marco, Ferrero, Giovanni Battista, Mussa, Alessandro
Published in Life (Basel, Switzerland) (01.06.2024)
Published in Life (Basel, Switzerland) (01.06.2024)
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Journal Article
Prevalence of beckwith-wiedemann syndrome in North West of Italy
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
Published in American journal of medical genetics. Part A (01.10.2013)
Published in American journal of medical genetics. Part A (01.10.2013)
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Journal Article
Correspondence on “Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities,” by Carmignac et al
Resta, Nicoletta, Calabrese, Olga, Grossi, Valentina, Lugli, Licia, Simone, Cristiano, Ranieri, Carlotta, Piglionica, Marilidia, Lepore Signorile, Martina, Rossi, Katia, Carli, Diana, Mussa, Alessandro
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
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Journal Article
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question
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
Published in Pediatric blood & cancer (01.09.2021)
Published in Pediatric blood & cancer (01.09.2021)
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Journal Article
Effect of initial levothyroxine dose on neurodevelopmental and growth outcomes in children with congenital hypothyroidism
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
Published in Frontiers in endocrinology (Lausanne) (05.09.2022)
Published in Frontiers in endocrinology (Lausanne) (05.09.2022)
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Journal Article
Bedside ultrasound of the lung for the monitoring of acute decompensated heart failure
Volpicelli, Giovanni, MD, Caramello, Valeria, MD, Cardinale, Luciano, MD, Mussa, Alessandro, MD, Bar, Fabrizio, MD, Frascisco, Mauro F., MD
Published in The American journal of emergency medicine (01.06.2008)
Published in The American journal of emergency medicine (01.06.2008)
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Journal Article
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
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
Published in BMC medical genomics (27.11.2023)
Published in BMC medical genomics (27.11.2023)
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Journal Article