Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
Lederer, Damien, Grisart, Bernard, Digilio, Maria Cristina, Benoit, Valérie, Crespin, Marianne, Ghariani, Sophie Claire, Maystadt, Isabelle, Dallapiccola, Bruno, Verellen-Dumoulin, Christine
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits
Fusco, Carmela, Micale, Lucia, Augello, Bartolomeo, Teresa Pellico, Maria, Menghini, Deny, Alfieri, Paolo, Cristina Digilio, Maria, Mandriani, Barbara, Carella, Massimo, Palumbo, Orazio, Vicari, Stefano, Merla, Giuseppe
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies
Calcagni, Giulio, Adorisio, Rachele, Martinelli, Simone, Grutter, Giorgia, Baban, Anwar, Versacci, Paolo, Digilio, Maria Cristina, Drago, Fabrizio, Gelb, Bruce D, Tartaglia, Marco, Marino, Bruno
Published in Heart failure clinics (01.04.2018)
Published in Heart failure clinics (01.04.2018)
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Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
Blagowidow, Natalie, Nowakowska, Beata, Schindewolf, Erica, Grati, Francesca Romana, Putotto, Carolina, Breckpot, Jeroen, Swillen, Ann, Crowley, Terrence Blaine, Loo, Joanne C Y, Lairson, Lauren A, Óskarsdóttir, Sólveig, Boot, Erik, Garcia-Minaur, Sixto, Cristina Digilio, Maria, Marino, Bruno, Coleman, Beverly, Moldenhauer, Julie S, Bassett, Anne S, McDonald-McGinn, Donna M
Published in Genes (01.01.2023)
Published in Genes (01.01.2023)
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Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects
Michielon, Guido, MD, Marino, Bruno, MD, Oricchio, Gianluca, MD, Digilio, Maria Cristina, MD, Iorio, Fiore, MD, Filippelli, Sergio, MD, Placidi, Silvia, MD, Di Donato, Roberto M., MD
Published in The Journal of thoracic and cardiovascular surgery (01.09.2009)
Published in The Journal of thoracic and cardiovascular surgery (01.09.2009)
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A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot
Guida, Valentina, Ferese, Rosangela, Rocchetti, Marcella, Bonetti, Monica, Sarkozy, Anna, Cecchetti, Serena, Gelmetti, Vania, Lepri, Francesca, Copetti, Massimiliano, Lamorte, Giuseppe, Cristina Digilio, Maria, Marino, Bruno, Zaza, Antonio, den Hertog, Jeroen, Dallapiccola, Bruno, De Luca, Alessandro
Published in European journal of human genetics : EJHG (01.01.2013)
Published in European journal of human genetics : EJHG (01.01.2013)
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Cardiovascular disease in Noonan syndrome
Pierpont, Mary Ella, Digilio, Maria Cristina
Published in Current opinion in pediatrics (01.10.2018)
Published in Current opinion in pediatrics (01.10.2018)
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Journal Article
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes
Martinelli, Simone, Krumbach, Oliver H.F., Pantaleoni, Francesca, Coppola, Simona, Amin, Ehsan, Pannone, Luca, Nouri, Kazem, Farina, Luciapia, Dvorsky, Radovan, Lepri, Francesca, Buchholzer, Marcel, Konopatzki, Raphael, Walsh, Laurence, Payne, Katelyn, Pierpont, Mary Ella, Vergano, Samantha Schrier, Langley, Katherine G., Larsen, Douglas, Farwell, Kelly D., Tang, Sha, Mroske, Cameron, Gallotta, Ivan, Di Schiavi, Elia, della Monica, Matteo, Lugli, Licia, Rossi, Cesare, Seri, Marco, Cocchi, Guido, Henderson, Lindsay, Baskin, Berivan, Alders, Mariëlle, Mendoza-Londono, Roberto, Dupuis, Lucie, Nickerson, Deborah A., Chong, Jessica X., Meeks, Naomi, Brown, Kathleen, Causey, Tahnee, Cho, Megan T., Demuth, Stephanie, Digilio, Maria Cristina, Gelb, Bruce D., Bamshad, Michael J., Zenker, Martin, Ahmadian, Mohammad Reza, Hennekam, Raoul C., Tartaglia, Marco, Mirzaa, Ghayda M.
Published in American journal of human genetics (01.02.2018)
Published in American journal of human genetics (01.02.2018)
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Journal Article
Transcriptome and Metabolome Reprogramming in Tomato Plants by Trichoderma harzianum strain T22 Primes and Enhances Defense Responses Against Aphids
Coppola, Mariangela, Diretto, Gianfranco, Digilio, Maria Cristina, Woo, Sheridan Lois, Giuliano, Giovanni, Molisso, Donata, Pennacchio, Francesco, Lorito, Matteo, Rao, Rosa
Published in Frontiers in physiology (21.06.2019)
Published in Frontiers in physiology (21.06.2019)
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Journal Article
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas
Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Digilio, Maria Cristina, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro
Published in European journal of human genetics : EJHG (01.08.2015)
Published in European journal of human genetics : EJHG (01.08.2015)
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Journal Article
Chitinase A from the baculovirus AcMNPV enhances resistance to both fungi and herbivorous pests in tobacco
Corrado, Giandomenico, Arciello, Stefania, Fanti, Paolo, Fiandra, Luisa, Garonna, Antonio, Digilio, Maria Cristina, Lorito, Matteo, Giordana, Barbara, Pennacchio, Francesco, Rao, Rosa
Published in Transgenic research (01.08.2008)
Published in Transgenic research (01.08.2008)
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Journal Article
Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome
Bassett, Anne S., MD, McDonald-McGinn, Donna M., MS, CGC, Devriendt, Koen, MD, Digilio, Maria Cristina, MD, Goldenberg, Paula, MD, MSW, Habel, Alex, MD, Marino, Bruno, MD, Oskarsdottir, Solveig, MD, PhD, Philip, Nicole, MD, Sullivan, Kathleen, MD, PhD, Swillen, Ann, PhD, Vorstman, Jacob, MD, PhD
Published in The Journal of pediatrics (01.08.2011)
Published in The Journal of pediatrics (01.08.2011)
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Temperature Differentially Influences the Capacity of Trichoderma Species to Induce Plant Defense Responses in Tomato Against Insect Pests
Di Lelio, Ilaria, Coppola, Mariangela, Comite, Ernesto, Molisso, Donata, Lorito, Matteo, Woo, Sheridan Lois, Pennacchio, Francesco, Rao, Rosa, Digilio, Maria Cristina
Published in Frontiers in plant science (09.06.2021)
Published in Frontiers in plant science (09.06.2021)
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Journal Article
Trichoderma atroviride P1 Colonization of Tomato Plants Enhances Both Direct and Indirect Defense Barriers Against Insects
Coppola, Mariangela, Cascone, Pasquale, Lelio, Ilaria Di, Woo, Sheridan Lois, Lorito, Matteo, Rao, Rosa, Pennacchio, Francesco, Guerrieri, Emilio, Digilio, Maria Cristina
Published in Frontiers in physiology (05.07.2019)
Published in Frontiers in physiology (05.07.2019)
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Congenital heart defects in molecularly proven Kabuki syndrome patients
Digilio, Maria Cristina, Gnazzo, Maria, Lepri, Francesca, Dentici, Maria Lisa, Pisaneschi, Elisa, Baban, Anwar, Passarelli, Chiara, Capolino, Rossella, Angioni, Adriano, Novelli, Antonio, Marino, Bruno, Dallapiccola, Bruno
Published in American journal of medical genetics. Part A (01.11.2017)
Published in American journal of medical genetics. Part A (01.11.2017)
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Journal Article
Analysis of gut microbiota in patients with Williams-Beuren Syndrome reveals dysbiosis linked to clinical manifestations
Del Chierico, Federica, Marzano, Valeria, Scanu, Matteo, Reddel, Sofia, Dentici, Maria Lisa, Capolino, Rossella, Di Donato, Maddalena, Spasari, Iolanda, Fiscarelli, Ersilia Vita, Digilio, Maria Cristina, Abreu, Maria Teresa, Dallapiccola, Bruno, Putignani, Lorenza
Published in Scientific reports (16.06.2023)
Published in Scientific reports (16.06.2023)
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FOXI3 pathogenic variants cause one form of craniofacial microsomia
Mao, Ke, Borel, Christelle, Ansar, Muhammad, Jolly, Angad, Makrythanasis, Periklis, Froehlich, Christine, Iwaszkiewicz, Justyna, Wang, Bingqing, Xu, Xiaopeng, Li, Qiang, Blanc, Xavier, Zhu, Hao, Chen, Qi, Jin, Fujun, Ankamreddy, Harinarayana, Singh, Sunita, Zhang, Hongyuan, Wang, Xiaogang, Chen, Peiwei, Ranza, Emmanuelle, Paracha, Sohail Aziz, Shah, Syed Fahim, Guida, Valentina, Piceci-Sparascio, Francesca, Melis, Daniela, Dallapiccola, Bruno, Digilio, Maria Cristina, Novelli, Antonio, Magliozzi, Monia, Fadda, Maria Teresa, Streff, Haley, Machol, Keren, Lewis, Richard A, Zoete, Vincent, Squeo, Gabriella Maria, Prontera, Paolo, Mancano, Giorgia, Gori, Giulia, Mariani, Milena, Selicorni, Angelo, Psoni, Stavroula, Fryssira, Helen, Douzgou, Sofia, Marlin, Sandrine, Biskup, Saskia, De Luca, Alessandro, Merla, Giuseppe, Zhao, Shouqin, Cox, Timothy C, Groves, Andrew K, Lupski, James R, Zhang, Qingguo, Zhang, Yong-Biao, Antonarakis, Stylianos E
Published in Nature communications (11.04.2023)
Published in Nature communications (11.04.2023)
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Journal Article
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers
Unolt, Marta, Versacci, Paolo, Anaclerio, Silvia, Lambiase, Caterina, Calcagni, Giulio, Trezzi, Matteo, Carotti, Adriano, Crowley, Terrence Blaine, Zackai, Elaine H., Goldmuntz, Elizabeth, Gaynor, James William, Digilio, Maria Cristina, McDonald‐McGinn, Donna M., Marino, Bruno
Published in American journal of medical genetics. Part A (01.10.2018)
Published in American journal of medical genetics. Part A (01.10.2018)
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Journal Article
Williams–Beuren syndrome shapes the gut microbiota metaproteome
Marzano, Valeria, Levi Mortera, Stefano, Vernocchi, Pamela, Del Chierico, Federica, Marangelo, Chiara, Guarrasi, Valerio, Gardini, Simone, Dentici, Maria Lisa, Capolino, Rossella, Digilio, Maria Cristina, Di Donato, Maddalena, Spasari, Iolanda, Abreu, Maria Teresa, Dallapiccola, Bruno, Putignani, Lorenza
Published in Scientific reports (03.11.2023)
Published in Scientific reports (03.11.2023)
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