Alazami syndrome: the first case of papillary thyroid carcinoma
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
Published in Journal of human genetics (01.01.2020)
Published in Journal of human genetics (01.01.2020)
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Journal Article
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding
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
Published in Neurogenetics (01.03.2021)
Published in Neurogenetics (01.03.2021)
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Journal Article
RIN2 syndrome: Expanding the clinical phenotype
Rosato, Simonetta, Syx, Delfien, Ivanovski, Ivan, Pollazzon, Marzia, Santodirocco, Daniela, De Marco, Loredana, Beltrami, Marina, Callewaert, Bert, Garavelli, Livia, Malfait, Fransiska
Published in American journal of medical genetics. Part A (01.09.2016)
Published in American journal of medical genetics. Part A (01.09.2016)
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Journal Article
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
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
Published in Genetics in medicine (01.09.2018)
Published in Genetics in medicine (01.09.2018)
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Journal Article
Dermoscopy of uncommon skin tumours
Lallas, Aimilios, Moscarella, Elvira, Argenziano, Giuseppe, Longo, Caterina, Apalla, Zoe, Ferrara, Gerardo, Piana, Simonetta, Rosato, Simonetta, Zalaudek, Iris
Published in Australasian journal of dermatology (01.02.2014)
Published in Australasian journal of dermatology (01.02.2014)
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Journal Article
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
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
Published in Genes (26.07.2023)
Published in Genes (26.07.2023)
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Journal Article
Natural history and life-threatening complications in Myhre syndrome and review of the literature
Garavelli, Livia, Maini, Ilenia, Baccilieri, Federica, Ivanovski, Ivan, Pollazzon, Marzia, Rosato, Simonetta, Iughetti, Lorenzo, Unger, Sheila, Superti-Furga, Andrea, Tartaglia, Marco
Published in European journal of pediatrics (01.10.2016)
Published in European journal of pediatrics (01.10.2016)
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Journal Article
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the IDLX5/6/I Genes
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
Published in Genes (01.07.2023)
Published in Genes (01.07.2023)
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Journal Article
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis
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
Published in Genes (23.12.2021)
Published in Genes (23.12.2021)
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Journal Article
Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies
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
Published in American journal of medical genetics. Part A (01.12.2020)
Published in American journal of medical genetics. Part A (01.12.2020)
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Journal Article
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes
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.
Published in American journal of medical genetics. Part A (01.05.2018)
Published in American journal of medical genetics. Part A (01.05.2018)
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Journal Article
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features
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
Published in Genes (28.01.2022)
Published in Genes (28.01.2022)
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Journal Article
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation
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
Published in American journal of medical genetics. Part A (01.04.2014)
Published in American journal of medical genetics. Part A (01.04.2014)
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Journal Article
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
Contrò, 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
Published in Genes (05.08.2021)
Published in Genes (05.08.2021)
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Journal Article
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
Pollazzon, Marzia, Rosato, Simonetta, Ivanovski, Ivan, Gelmini, Chiara, Bertani, Gianna, Pascarella, Rosario, Napoli, Manuela, Garavelli, Livia, Unger, Sheila, Superti-Furga, Andrea
Published in Clinical dysmorphology (01.07.2018)
Published in Clinical dysmorphology (01.07.2018)
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Journal Article
Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma
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
Published in American journal of medical genetics. Part A (01.08.2015)
Published in American journal of medical genetics. Part A (01.08.2015)
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Journal Article
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype
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
Published in American journal of medical genetics. Part A (01.02.2013)
Published in American journal of medical genetics. Part A (01.02.2013)
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Journal Article
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci
Garavelli, Livia, Piemontese, Maria Rosaria, Cavazza, Alberto, Rosato, Simonetta, Wischmeijer, Anita, Gelmini, Chiara, Albertini, Enrico, Albertini, Giuseppe, Forzano, Francesca, Franchi, Fabrizia, Carella, Massimo, Zelante, Leopoldo, Superti-Furga, Andrea
Published in American journal of medical genetics. Part A (01.11.2013)
Published in American journal of medical genetics. Part A (01.11.2013)
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Journal Article
Cryptic 13q34 and 4q35.2 Deletions in an Italian Family
Riccardi, Federica, Rivolta, Gianna F., Uliana, Vera, Grati, Francesca R., La Starza, Roberta, Marcato, Livia, Di Perna, Caterina, Quintavalle, Gabriele, Garavelli, Livia, Rosato, Simonetta, Sammarelli, Gabriella, Neri, Tauro M., Tagliaferri, Annarita, Martorana, Davide
Published in Cytogenetic and genome research (01.01.2015)
Published in Cytogenetic and genome research (01.01.2015)
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Journal Article
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation
Garavelli, Livia, Wischmeijer, Anita, Rosato, Simonetta, Gelmini, Chiara, Reverberi, Sandro, Sassi, Silvia, Ferrari, Adriano, Mari, Francesca, Zabel, Bernhard, Lausch, Ekkehart, Unger, Sheila, Superti-Furga, Andrea
Published in American journal of medical genetics. Part A (01.02.2011)
Published in American journal of medical genetics. Part A (01.02.2011)
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