Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome von Lederer, Damien, Grisart, Bernard, Digilio, Maria Cristina, Benoit, Valérie, Crespin, Marianne, Ghariani, Sophie Claire, Maystadt, Isabelle, Dallapiccola, Bruno, Verellen-Dumoulin, Christine

Volltext

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia von Sirmaci, Asli, Spiliopoulos, Michail, Brancati, Francesco, Powell, Eric, Duman, Duygu, Abrams, Alex, Bademci, Guney, Agolini, Emanuele, Guo, Shengru, Konuk, Berrin, Kavaz, Asli, Blanton, Susan, Digilio, Maria Christina, Dallapiccola, Bruno, Young, Juan, Zuchner, Stephan, Tekin, Mustafa

Volltext

Leopard syndrome von Sarkozy, Anna, Digilio, Maria Cristina, Dallapiccola, Bruno

Volltext

Cardiovascular disease in Down syndrome von Versacci, Paolo, Di Carlo, Duccio, Digilio, Maria C, Marino, Bruno

Volltext

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome von 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

Volltext

A soil fungus confers plant resistance against a phytophagous insect by disrupting the symbiotic role of its gut microbiota von Di Lelio, Ilaria, Forni, Giobbe, Magoga, Giulia, Brunetti, Matteo, Bruno, Daniele, Becchimanzi, Andrea, De Luca, Maria G, Sinno, Martina, Barra, Eleonora, Bonelli, Marco, Frusciante, Sarah, Diretto, Gianfranco, Digilio, Maria C, Woo, Sheridan L, Tettamanti, Gianluca, Rao, Rosa, Lorito, Matteo, Casartelli, Morena, Montagna, Matteo, Pennacchio, Francesco

Volltext

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair von Gelb, Bruce D, Tartaglia, Marco, Cordeddu, Viviana, Di Schiavi, Elia, Pennacchio, Len A, Ma'ayan, Avi, Sarkozy, Anna, Fodale, Valentina, Cecchetti, Serena, Cardinale, Alessio, Martin, Joel, Schackwitz, Wendy, Lipzen, Anna, Zampino, Giuseppe, Mazzanti, Laura, Digilio, Maria C, Martinelli, Simone, Flex, Elisabetta, Lepri, Francesca, Bartholdi, Deborah, Kutsche, Kerstin, Ferrero, Giovanni B, Anichini, Cecilia, Selicorni, Angelo, Rossi, Cesare, Tenconi, Romano, Zenker, Martin, Merlo, Daniela, Dallapiccola, Bruno, Iyengar, Ravi, Bazzicalupo, Paolo

Volltext

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype von Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

Volltext

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas von 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

Volltext

Transcriptomic and proteomic analysis of a compatible tomato-aphid interaction reveals a predominant salicylic acid-dependent plant response von Coppola, Valentina, Coppola, Mariangela, Rocco, Mariapina, Digilio, Maria Cristina, D'Ambrosio, Chiara, Renzone, Giovanni, Martinelli, Rosanna, Scaloni, Andrea, Pennacchio, Francesco, Rao, Rosa, Corrado, Giandomenico

Volltext

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits von 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

Volltext

Cardiovascular disease in Noonan syndrome von Pierpont, Mary Ella, Digilio, Maria Cristina

Volltext

Expanding the clinical spectrum associated with PACS2 mutations von Dentici, Maria L., Barresi, Sabina, Niceta, Marcello, Ciolfi, Andrea, Trivisano, Marina, Bartuli, Andrea, Digilio, Maria C., Specchio, Nicola, Dallapiccola, Bruno, Tartaglia, Marco

Volltext

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder von Cuvertino, Sara, Stuart, Helen M., Chandler, Kate E., Roberts, Neil A., Armstrong, Ruth, Bernardini, Laura, Bhaskar, Sanjeev, Callewaert, Bert, Clayton-Smith, Jill, Davalillo, Cristina Hernando, Deshpande, Charu, Devriendt, Koenraad, Digilio, Maria C., Dixit, Abhijit, Edwards, Matthew, Friedman, Jan M., Gonzalez-Meneses, Antonio, Joss, Shelagh, Kerr, Bronwyn, Lampe, Anne Katrin, Langlois, Sylvie, Lennon, Rachel, Loget, Philippe, Ma, David Y.T., McGowan, Ruth, Des Medt, Maryse, O’Sullivan, James, Odent, Sylvie, Parker, Michael J., Pebrel-Richard, Céline, Petit, Florence, Stark, Zornitza, Stockler-Ipsiroglu, Sylvia, Tinschert, Sigrid, Vasudevan, Pradeep, Villa, Olaya, White, Susan M., Zahir, Farah R., Woolf, Adrian S., Banka, Siddharth

Volltext

Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice von Mastromoro, Gioia, Calcagni, Giulio, Versacci, Paolo, Putotto, Carolina, Chinali, Marcello, Lambiase, Caterina, Unolt, Marta, Pelliccione, Elena, Anaclerio, Silvia, Caprio, Cinzia, Cioffi, Sara, Bilio, Marchesa, Baban, Anwar, Drago, Fabrizio, Digilio, Maria Cristina, Marino, Bruno, Baldini, Antonio

Volltext

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations von Lepri, Francesca, De Luca, Alessandro, Stella, Lorenzo, Rossi, Cesare, Baldassarre, Giuseppina, Pantaleoni, Francesca, Cordeddu, Viviana, Williams, Bradley J., Dentici, Maria L., Caputo, Viviana, Venanzi, Serenella, Bonaguro, Michela, Kavamura, Ines, Faienza, Maria F., Pilotta, Alba, Stanzial, Franco, Faravelli, Francesca, Gabrielli, Orazio, Marino, Bruno, Neri, Giovanni, Silengo, Margherita Cirillo, Ferrero, Giovanni B., Torrrente, Isabella, Selicorni, Angelo, Mazzanti, Laura, Digilio, Maria C., Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco

Volltext

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy von Sarkozy, Anna, López Siguero, Juan P, Tartaglia, Marco, Ackerman, Michael J, Rossi, Cesare, Digilio, Maria C, Mundel, Peter, Torrente, Isabella, Tenconi, Romano, Mazzanti, Laura, Selicorni, Angelo, Landstrom, Andrew, Marino, Bruno, Bos, J Martijn, Pogna, Edgar A, Oishi, Kimihiko, Gelb, Bruce D, Martinelli, Simone, Schackwitz, Wendy, Pennacchio, Len A, Carta, Claudio, Pandit, Bhaswati, Ustaszewska, Anna, Zampino, Giuseppe, Ommen, Steve R, Dallapiccola, Bruno, Esposito, Giorgia, Lepri, Francesca, Faul, Christian

Volltext

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects von Beecroft, Sarah J., Ayala, Marcos, McGillivray, George, Nanda, Vikas, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria C., Dotta, Andrea, Carrozzo, Rosalba, Clayton, Joshua, Gaffney, Lydia, McLean, Catriona A., Ng, Jessica, Laing, Nigel G., Matteson, Paul, Millonig, James, Ravenscroft, Gianina

Volltext

TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations von Dentici, Maria L., Maglione, Vittorio, Agolini, Emanuele, Catena, Gino, Capolino, Rossella, Lanari, Valentina, Novelli, Antonio, Sinibaldi, Lorenzo, Vecchio, Davide, Gonfiantini, Michaela V., Macchiaiolo, Marina, Digilio, Maria C., Dallapiccola, Bruno, Bartuli, Andrea

Volltext

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature von Lepri, Francesca Romana, Cocciadiferro, Dario, Augello, Bartolomeo, Alfieri, Paolo, Pes, Valentina, Vancini, Alessandra, Caciolo, Cristina, Squeo, Gabriella Maria, Malerba, Natascia, Adipietro, Iolanda, Novelli, Antonio, Sotgiu, Stefano, Gherardi, Renzo, Digilio, Maria Cristina, Dallapiccola, Bruno, Merla, Giuseppe

Volltext