Alazami syndrome: the first case of papillary thyroid carcinoma von Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Magnani, Elisa, Rosato, Simonetta, Pollazzon, Marzia, Matalonga, Leslie, Piana, Simonetta, Nicoli, Davide, Baldo, Chiara, Bernasconi, Sergio, Frasoldati, Andrea, Zuffardi, Orsetta, Garavelli, Livia

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Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding von Maini, Ilenia, Errichiello, Edoardo, Caraffi, Stefano Giuseppe, Rosato, Simonetta, Bizzarri, Veronica, Pollazzon, Marzia, Trimarchi, Gabriele, Contrò, Gianluca, Cavirani, Benedetta, Gelmini, Chiara, Napoli, Manuela, Moratti, Claudio, Pascarella, Rosario, Rizzi, Susanna, Fusco, Carlo, Zuffardi, Orsetta, Garavelli, Livia

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RIN2 syndrome: Expanding the clinical phenotype von Rosato, Simonetta, Syx, Delfien, Ivanovski, Ivan, Pollazzon, Marzia, Santodirocco, Daniela, De Marco, Loredana, Beltrami, Marina, Callewaert, Bert, Garavelli, Livia, Malfait, Fransiska

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Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care von Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

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Dermoscopy of uncommon skin tumours von Lallas, Aimilios, Moscarella, Elvira, Argenziano, Giuseppe, Longo, Caterina, Apalla, Zoe, Ferrara, Gerardo, Piana, Simonetta, Rosato, Simonetta, Zalaudek, Iris

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Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care von Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Rauch, Anita

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Expanding the phenotype ofWiedemann-Steinersyndrome: Craniovertebral junction anomalies von Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Ivanovski, Ivan, Maini, Ilenia, Pollazzon, Marzia, Rosato, Simonetta, Trimarchi, Gabriele, Lauriello, Anna, Marinelli, Maria, Nicoli, Davide, Baldo, Chiara, Laurie, Steven, Flores-Daboub, Josue, Provenzano, Aldesia, Andreucci, Elena, Peluso, Francesca, Rizzo, Renata, Stewart, Helen, Lachlan, Katherine, Bayat, Allan, Napoli, Manuela, Carboni, Giorgia, Baker, Janice, Mendel, Alyssa, Piatelli, Gianluca, Pantaleoni, Chiara, Mattina, Teresa, Prontera, Paolo, Mendelsohn, Nancy J., Giglio, Sabrina, Zuffardi, Orsetta, Garavelli, Livia

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Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes von Ambrosetti, Irene, Bernardini, Laura, Pollazzon, Marzia, Giuffrida, Maria Grazia, Guida, Valentina, Peluso, Francesca, Baroni, Maria Chiara, Polizzi, Valeria, Napoli, Manuela, Rosato, Simonetta, Trimarchi, Gabriele, Gelmini, Chiara, Caraffi, Stefano Giuseppe, Wischmeijer, Anita, Frattini, Daniele, Novelli, Antonio, Garavelli, Livia

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Natural history and life-threatening complications in Myhre syndrome and review of the literature von Garavelli, Livia, Maini, Ilenia, Baccilieri, Federica, Ivanovski, Ivan, Pollazzon, Marzia, Rosato, Simonetta, Iughetti, Lorenzo, Unger, Sheila, Superti-Furga, Andrea, Tartaglia, Marco

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Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the IDLX5/6/I Genes von Ambrosetti, Irene, Bernardini, Laura, Pollazzon, Marzia, Giuffrida, Maria Grazia, Guida, Valentina, Peluso, Francesca, Baroni, Maria Chiara, Polizzi, Valeria, Napoli, Manuela, Rosato, Simonetta, Trimarchi, Gabriele, Gelmini, Chiara, Caraffi, Stefano Giuseppe, Wischmeijer, Anita, Frattini, Daniele, Novelli, Antonio, Garavelli, Livia

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Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes von Ivanovski, Ivan, Akbaroghli, Susan, Pollazzon, Marzia, Gelmini, Chiara, Caraffi, Stefano Giuseppe, Mansouri, Mahboubeh, Chavoshzadeh, Zahra, Rosato, Simonetta, Polizzi, Valeria, Gargano, Giancarlo, Alders, Marielle, Garavelli, Livia, Hennekam, Raoul C.

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Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies von Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Ivanovski, Ivan, Maini, Ilenia, Pollazzon, Marzia, Rosato, Simonetta, Trimarchi, Gabriele, Lauriello, Anna, Marinelli, Maria, Nicoli, Davide, Baldo, Chiara, Laurie, Steven, Flores‐Daboub, Josue, Provenzano, Aldesia, Andreucci, Elena, Peluso, Francesca, Rizzo, Renata, Stewart, Helen, Lachlan, Katherine, Bayat, Allan, Napoli, Manuela, Carboni, Giorgia, Baker, Janice, Mendel, Alyssa, Piatelli, Gianluca, Pantaleoni, Chiara, Mattina, Teresa, Prontera, Paolo, Mendelsohn, Nancy J., Giglio, Sabrina, Zuffardi, Orsetta, Garavelli, Livia

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Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis von Pollazzon, Marzia, Caraffi, Stefano Giuseppe, Faccioli, Silvia, Rosato, Simonetta, Fodstad, Heidi, Campos-Xavier, Belinda, Soncini, Emanuele, Comitini, Giuseppina, Frattini, Daniele, Grimaldi, Teresa, Marinelli, Maria, Martorana, Davide, Percesepe, Antonio, Sassi, Silvia, Fusco, Carlo, Gargano, Giancarlo, Superti-Furga, Andrea, Garavelli, Livia

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Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features von Rosato, Simonetta, Unger, Sheila, Campos-Xavier, Belinda, Caraffi, Stefano Giuseppe, Beltrami, Laura, Pollazzon, Marzia, Ivanovski, Ivan, Castori, Marco, Bonasoni, Maria Paola, Comitini, Giuseppina, Nikkels, Peter G J, Lindstrom, Kristin, Umandap, Christine, Superti-Furga, Andrea, Garavelli, Livia

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Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features von Rosato, Simonetta, Unger, Sheila, Campos-Xavier, Belinda, Caraffi, Stefano Giuseppe, Beltrami, Laura, Pollazzon, Marzia, Ivanovski, Ivan, Castori, Marco, Bonasoni, Maria Paola, Comitini, Giuseppina, Nikkels, Peter G.J, Lindstrom, Kristin, Umandap, Christine, Superti-Furga, Andrea, Garavelli, Livia

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Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features von Rosato, Simonetta, Unger, Sheila, Campos-Xavier, Belinda, Caraffi, Stefano Giuseppe, Beltrami, Laura, Pollazzon, Marzia, Ivanovski, Ivan, Castori, Marco, Bonasoni, Maria Paola, Comitini, Giuseppina, Nikkels, Peter G J, Lindstrom, Kristin, Umandap, Christine, Superti-Furga, Andrea, Garavelli, Livia

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Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation von Gargano, Giancarlo, Guidotti, Isotta, Balestri, Eleonora, Vagnarelli, Federica, Rosato, Simonetta, Comitini, Giuseppina, Wischmeijer, Anita, La Sala, Giovanni Battista, Iughetti, Lorenzo, Cordeddu, Viviana, Rossi, Cesare, Tartaglia, Marco, Garavelli, Livia

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Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum von Contro, Gianluca, Micalizzi, Alessia, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Rosato, Simonetta, Pollazzon, Marzia, Terracciano, Alessandra, Napoli, Manuela, Rizzi, Susanna, Salerno, Grazia Gabriella, Radio, Francesca Clementina, Niceta, Marcello, Parrini, Elena, Fusco, Carlo, Gargano, Giancarlo, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Zuffardi, Orsetta, Garavelli, Livia

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Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma von Garavelli, Livia, Cordeddu, Viviana, Errico, Stefania, Bertolini, Patrizia, Street, Maria Elisabeth, Rosato, Simonetta, Pollazzon, Marzia, Wischmeijer, Anita, Ivanovski, Ivan, Daniele, Paola, Bacchini, Ermanno, Lombardi, Alfonsa Anna, Izzi, Giancarlo, Biasucci, Giacomo, Del Rossi, Carmine, Corradi, Domenico, Cazzaniga, Giovanni, Dominici, Carlo, Rossi, Cesare, De Luca, Alessandro, Bernasconi, Sergio, Riccardi, Riccardo, Legius, Eric, Tartaglia, Marco

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Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype von Cordelli, Duccio Maria, Garavelli, Livia, Savasta, Salvatore, Guerra, Azzurra, Pellicciari, Alessandro, Giordano, Lucio, Bonetti, Silvia, Cecconi, Ilaria, Wischmeijer, Anita, Seri, Marco, Rosato, Simonetta, Gelmini, Chiara, Della Giustina, Elvio, Ferrari, Anna Rita, Zanotta, Nicoletta, Epifanio, Roberta, Grioni, Daniele, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Buoni, Sabrina, Mostardini, Rosa, Grosso, Salvatore, Pantaleoni, Chiara, Doz, Morena, Poch-Olivé, Maria Luisa, Rivieri, Francesca, Sorge, Giovanni, Simonte, Graziella, Licata, Francesca, Tarani, Luigi, Terazzi, Emanuela, Mazzanti, Laura, Cerruti Mainardi, Paola, Boni, Antonella, Faravelli, Francesca, Grasso, Marina, Bianchi, Paolo, Zollino, Marcella, Franzoni, Emilio

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