A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling von Valenza, Fabiola, Cittaro, Davide, Stupka, Elia, Biancolini, Donatella, Patricelli, Maria Grazia, Bonanomi, Dario, Lazarević, Dejan

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XX males SRY negative: a confirmed cause of infertility von Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Patricelli, Maria Grazia, Della Mina, Erika, Forlino, Antonella, Zuffardi, Orsetta

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Growth hormone deficiency and secondary adrenal insufficiency in petrified ears syndrome: a case report and literature review von Recalcati, Sebastiano, Vassallo, Alberto, Villanova, Marta, Lanzi, Roberto, Losa, Marco, Patricelli, Maria Grazia, Carrera, Paola, Fantini, Fabrizio

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Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation von Vincenzi, Gaia, Petralia, Ilenia Teresa, Abbate, Marco, Tarantola, Giulia, Meroni, Silvia Laura Carla, Maggiore, Riccardo, Mari, Gilberto, Patricelli, Maria Grazia, Schiavo Lena, Marco, Barera, Graziano, Vigone, Maria Cristina

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Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay–Barrow/Foar Syndrome) von Mingarelli, Alessia, Pipitone, Giovanni Battista, Torini, Giacomo, Patricelli, Maria Grazia, Totaro, Martina, Colonna, Clara, Carrera, Paola, Raviglione, Federico

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Multimodal imaging evaluation of occult macular dystrophy associated with a novel RP1L1 variant von Bianco, Lorenzo, Arrigo, Alessandro, Antropoli, Alessio, Carrera, Paola, Spiga, Ivana, Patricelli, Maria Grazia, Bandello, Francesco, Battaglia Parodi, Maurizio

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Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders von Zambon, Alberto A., Ghezzi, Daniele, Baldoli, Cristina, Cutillo, Gianni, Fontana, Katia, Sofia, Valentina, Patricelli, Maria Grazia, Nasca, Alessia, Vinci, Stefano, Spiga, Ivana, Lamantea, Eleonora, Fanelli, Giovanna F., Sora, Maria Grazia Natali, Rovelli, Rosanna, Poloniato, Antonella, Carrera, Paola, Filippi, Massimo, Barera, Graziano

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Inverted duplications: how many of them are mosaic? von Pramparo, Tiziano, Giglio, Sabrina, Gregato, Giuliana, de Gregori, Manuela, Grazia Patricelli, Maria, Ciccone, Roberto, Scappaticci, Susi, Mannino, Gaetano, Lombardi, Claudio, Pirola, Barbara, Giorda, Roberto, Rocchi, Mariano, Zuffardi, Orsetta

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A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea von Rossi, Elena, Verri, Anna Pia, Patricelli, Maria Grazia, Destefani, Valeria, Ricca, Ivana, Vetro, Annalisa, Ciccone, Roberto, Giorda, Roberto, Toniolo, Daniela, Maraschio, Paola, Zuffardi, Orsetta

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De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s von Rossi, Elena, Giorda, Roberto, Bonaglia, Maria Clara, Candia, Stefania Di, Grechi, Elena, Franzese, Adriana, Soli, Fiorenza, Rivieri, Francesca, Patricelli, Maria Grazia, Saccilotto, Donatella, Bonfante, Aldo, Giglio, Sabrina, Beri, Silvana, Rocchi, Mariano, Zuffardi, Orsetta

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Pregnancy After Breast Cancer in Young BRCA Carriers: An International Hospital-Based Cohort Study von Lambertini, Matteo, Blondeaux, Eva, Agostinetto, Elisa, Hamy, Anne-Sophie, Kim, Hee Jeong, Di Meglio, Antonio, Bernstein Molho, Rinat, Hilbers, Florentine, Pogoda, Katarzyna, Carrasco, Estela, Punie, Kevin, Bajpai, Jyoti, Ignatiadis, Michail, Moore, Halle C. F, Phillips, Kelly-Anne, Toss, Angela, Rousset-Jablonski, Christine, Peccatori, Fedro A, Renaud, Tiphaine, Ferrari, Alberta, Paluch-Shimon, Shani, Fruscio, Robert, Cui, Wanda, Wong, Stephanie M, Vernieri, Claudio, Ruddy, Kathryn J, Dieci, Maria Vittoria, Matikas, Alexios, Rozenblit, Mariya, Villarreal-Garza, Cynthia, De Marchis, Laura, Del Mastro, Lucia, Puglisi, Fabio, Del Pilar Estevez-Diz, Maria, Rodriguez-Wallberg, Kenny A, Mrinakova, Bela, Meister, Sarah, Livraghi, Luca, Clatot, Florian, Yerushalmi, Rinat, De Angelis, Carmine, Sánchez-Bayona, Rodrigo, Meattini, Icro, Cichowska-Cwalinska, Natalia, Berlière, Martine, Salama, Mahmoud, De Giorgi, Ugo, Sonnenblick, Amir, Chiodi, Camila, Lee, Young-Jin, Maria, Camille, Azim, Hatem A, Boni, Luca, Partridge, Ann H

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Transcutaneous electrical stimulation therapy and genetic analysis in Dercum's disease: A pilot study von Caretto, Amelia, Errichiello, Edoardo, Patricelli, Maria Grazia, Zuffardi, Orsetta, Cristel, Giulia, Ravelli, Silvia, Sirtori, Marcella, Scavini, Marina, Bosi, Emanuele, Martinenghi, Sabina

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Newborn Screening for Congenital Hypothyroidism: the Benefit of Using Differential TSH Cutoffs in a 2-Screen Program von Caiulo, Silvana, Corbetta, Carlo, Di Frenna, Marianna, Medda, Emanuela, De Angelis, Simona, Rotondi, Daniela, Vincenzi, Gaia, de Filippis, Tiziana, Patricelli, Maria Grazia, Persani, Luca, Barera, Graziano, Weber, Giovanna, Olivieri, Antonella, Vigone, Maria Cristina

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Age and sex prevalence estimate of Joubert syndrome in Italy von Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola

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Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome von Bonaglia, Maria Clara, Giorda, Roberto, Beri, Silvana, De Agostini, Cristina, Novara, Francesca, Fichera, Marco, Grillo, Lucia, Galesi, Ornella, Vetro, Annalisa, Ciccone, Roberto, Bonati, Maria Teresa, Giglio, Sabrina, Guerrini, Renzo, Osimani, Sara, Marelli, Susan, Zucca, Claudio, Grasso, Rita, Borgatti, Renato, Mani, Elisa, Motta, Cristina, Molteni, Massimo, Romano, Corrado, Greco, Donatella, Reitano, Santina, Baroncini, Anna, Lapi, Elisabetta, Cecconi, Antonella, Arrigo, Giulia, Patricelli, Maria Grazia, Pantaleoni, Chiara, D'Arrigo, Stefano, Riva, Daria, Sciacca, Francesca, Dalla Bernardina, Bernardo, Zoccante, Leonardo, Darra, Francesca, Termine, Cristiano, Maserati, Emanuela, Bigoni, Stefania, Priolo, Emanuela, Bottani, Armand, Gimelli, Stefania, Bena, Frederique, Brusco, Alfredo, di Gregorio, Eleonora, Bagnasco, Irene, Giussani, Ursula, Nitsch, Lucio, Politi, Pierluigi, Martinez-Frias, Maria Luisa, Martínez-Fernández, Maria Luisa, Martínez Guardia, Nieves, Bremer, Anna, Anderlid, Britt-Marie, Zuffardi, Orsetta

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PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations von Bianco, Lorenzo, Arrigo, Alessandro, Antropoli, Alessio, Saladino, Andrea, Spiga, Ivana, Patricelli, Maria Grazia, Bandello, Francesco, Carrera, Paola, Battaglia Parodi, Maurizio

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Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients von Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe

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PRPH2-Associated Retinopathy von Bianco, Lorenzo, Arrigo, Alessandro, Antropoli, Alessio, Saladino, Andrea, Spiga, Ivana, Patricelli, Maria Grazia, Bandello, Francesco, Carrera, Paola, Battaglia Parodi, Maurizio

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Su1985 – Preliminary Data on Oral and Fecal Microbiota in Patients Affected by Lynch Syndrome von Ferrarese, Roberto, Zuppardo, Raffaella Alessia, Mannucci, Alessandro, Antoci, Graziana, Ditonno, Ilaria, Notaristefano, Chiara, Patricelli, Maria Grazia, Raucci, Annalisa Russo, Di Leo, Milena, Testoni, Pier Alberto, Mancini, Nicasio, Cavestro, Giulia M.

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Tu1671 – Small Bowel Neoplasia Detection in Lynch Syndrome Using Video Capsule Endoscopy von Zuppardo, Raffaella Alessia, Contaldo, Antonella, Notaristefano, Chiara, Leo, Milena Di, Principi, Mariabeatrice, Mannucci, Alessandro, Rizzi, Salvatore, Patricelli, Maria Grazia, Raucci, Annalisa Russo, Testoni, Pier Alberto, Leo, Alfredo Di, Cavestro, Giulia M.

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