Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients
Maioli, Margherita, Gnoli, Maria, Boarini, Manila, Tremosini, Morena, Zambrano, Anna, Pedrini, Elena, Mordenti, Marina, Corsini, Serena, D'Eufemia, Patrizia, Versacci, Paolo, Celli, Mauro, Sangiorgi, Luca
Published in European journal of human genetics : EJHG (01.07.2019)
Published in European journal of human genetics : EJHG (01.07.2019)
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'BLUES' procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
Di Martino, Valerio, Mallone, Fabiana, Lambiase, Alessandro, Celli, Mauro, Mannocci, Alice, Celli, Luca, Mangiantini, Pietro, Fino, Pasquale, Moramarco, Antonietta
Published in Orphanet journal of rare diseases (27.04.2024)
Published in Orphanet journal of rare diseases (27.04.2024)
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Ocular Motility Abnormalities in Ehlers-Danlos Syndrome: An Observational Study
Comberiati, Anna Maria, Iannetti, Ludovico, Migliorini, Raffaele, Armentano, Marta, Graziani, Marika, Celli, Luca, Zambrano, Anna, Celli, Mauro, Gharbiya, Magda, Lambiase, Alessandro
Published in Applied sciences (01.04.2023)
Published in Applied sciences (01.04.2023)
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Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
Cinque, Luigia, Pugliese, Flavia, Salcuni, Antonio Stefano, Trombetta, Domenico, Battista, Claudia, Biagini, Tommaso, Augello, Bartolomeo, Nardella, Grazia, Conti, Francesco, Corbetta, Sabrina, Fischetto, Rita, Foiadelli, Thomas, Gaudio, Agostino, Giannini, Cosimo, Grosso, Enrico, Guabello, Gregorio, Massuras, Stefania, Palermo, Andrea, Politano, Luisa, Pigliaru, Francesca, Ruggeri, Rosaria Maddalena, Scarano, Emanuela, Vicchio, Piera, Cannavò, Salvatore, Celli, Mauro, Petrizzelli, Francesco, Mastroianno, Mario, Castori, Marco, Scillitani, Alfredo, Guarnieri, Vito
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
Published in Frontiers in endocrinology (Lausanne) (01.08.2023)
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Brain-Type Creatine Kinase Release from Cultured Osteoclasts Exposed to Neridronate in Children Affected by Osteogenesis Imperfecta Type 1
Faienza, Maria Felicia, Tummolo, Albina, Celli, Mauro, Finocchiaro, Roberto, Piacente, Laura, Di Serio, Francesca, Nicchia, Grazia Paola, Brunetti, Giacomina, D'Eufemia, Patrizia
Published in Biomedicines (04.02.2023)
Published in Biomedicines (04.02.2023)
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New 3D Cone Beam CT Imaging Parameters to Assist the Dentist in Treating Patients with Osteogenesis Imperfecta
Messineo, Daniela, Luzzi, Valeria, Pepe, Francesca, Celli, Luca, Turchetti, Arianna, Zambrano, Anna, Celli, Mauro, Polimeni, Antonella, Ierardo, Gaetano
Published in Healthcare (Basel) (10.12.2020)
Published in Healthcare (Basel) (10.12.2020)
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The Characteristics of Adjacent Anatomy of Mandibular Third Molar Germs: A CBCT Pilot Study in Patients with Osteogenesis Imperfecta
D’Angeli, Giacomo, Messineo, Daniela, Riminucci, Mara, Corsi, Alessandro, Celli, Mauro, Vozza, Iole, Sfasciotti, Gian Luca
Published in Healthcare (Basel) (30.09.2020)
Published in Healthcare (Basel) (30.09.2020)
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Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype
Swinnen, Freya K R, Coucke, Paul J, De Paepe, Anne M, Symoens, Sofie, Malfait, Fransiska, Gentile, Filomena V, Sangiorgi, Luca, D'Eufemia, Patrizia, Celli, Mauro, Garretsen, Ton J T M, Cremers, Cor W R J, Dhooge, Ingeborg J M, De Leenheer, Els M R
Published in Orphanet journal of rare diseases (29.12.2011)
Published in Orphanet journal of rare diseases (29.12.2011)
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Vitamin D deficiency rickets in five “at‐risk” children
D'Eufemia, Patrizia, Parisi, Pasquale, Celli, Mauro, Finocchiaro, Roberto, Roggini, Mario, Raccio, Ivana, Zambrano, Anna, Villa, Maria Pia
Published in Pediatrics international (01.02.2012)
Published in Pediatrics international (01.02.2012)
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The Close Link of Pancreatic Iron With Glucose Metabolism and With Cardiac Complications in Thalassemia Major: A Large, Multicenter Observational Study
Pepe, Alessia, Pistoia, Laura, Gamberini, Maria Rita, Cuccia, Liana, Peluso, Angelo, Messina, Giuseppe, Spasiano, Anna, Allò, Massimo, Bisconte, Maria Grazia, Putti, Maria Caterina, Casini, Tommaso, Dello Iacono, Nicola, Celli, Mauro, Vitucci, Angelantonio, Giuliano, Pietro, Peritore, Giuseppe, Renne, Stefania, Righi, Riccardo, Positano, Vincenzo, De Sanctis, Vincenzo, Meloni, Antonella
Published in Diabetes care (01.11.2020)
Published in Diabetes care (01.11.2020)
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The dark side of COVID‐19: The need of integrated medicine for children with special care needs
Leoni, Chiara, Giorgio, Valentina, Onesimo, Roberta, Tarani, Luigi, Celli, Mauro, Selicorni, Angelo, Zampino, Giuseppe
Published in American Journal of Medical Genetics Part A (01.08.2020)
Published in American Journal of Medical Genetics Part A (01.08.2020)
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Challenges in surgical orthopaedic treatment in a rare case of pycnodysostosis: Sometimes you win, sometimes you learn
Persiani, Pietro, Martini, Lorena, Calogero, Valeria, Formica, Virginia Maria, Giannini, Elettra, Speziale Varsamis, Tommaso, Celli, Mauro, Zambrano, Anna, De Meo, Daniele, Villani, Ciro
Published in Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association (01.11.2023)
Published in Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association (01.11.2023)
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Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls
Persiani, Pietro, Martini, Lorena, Ranaldi, Filippo Maria, Zambrano, Anna, Celli, Mauro, Celli, Luca, D’Eufemia, Patrizia, Villani, Ciro
Published in Injury (01.07.2019)
Published in Injury (01.07.2019)
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Prediction of Cardiac Complications in SCD
Pepe, Alessia, Pistoia, Laura, Gamberini, Maria Rita, Macchi, Silvia, Commendatore, Francesca Valeria, Facchini, Elena, Pitrolo, Lorella, Celli, Mauro, Maggio, Aurelio, Preziosi, Paolo, Positano, Vincenzo, Meloni, Antonella
Published in Blood (13.11.2019)
Published in Blood (13.11.2019)
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Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach
Castori, Marco, Morlino, Silvia, Celletti, Claudia, Celli, Mauro, Morrone, Aldo, Colombi, Marina, Camerota, Filippo, Grammatico, Paola
Published in American journal of medical genetics. Part A (01.08.2012)
Published in American journal of medical genetics. Part A (01.08.2012)
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Association between spondylolisthesis and L5 fracture in patients with Osteogenesis Imperfecta
Persiani, Pietro, Graci, Jole, de Cristo, Claudia, Noia, Giovanni, Villani, Ciro, Celli, Mauro
Published in European spine journal (01.12.2017)
Published in European spine journal (01.12.2017)
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Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports
Storoni, Silvia, Celli, Luca, Zhytnik, Lidiia, Maasalu, Katre, Märtson, Aare, Kõks, Sulev, Khmyzov, Sergey, Pashenko, Andrei, Maugeri, Alessandra, Zambrano, Anna, Celli, Mauro, Eekhoff, Elisabeth M.W., Micha, Dimitra
Published in European journal of medical genetics (01.11.2023)
Published in European journal of medical genetics (01.11.2023)
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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
Leone, Maria Pia, Morlino, Silvia, Nardella, Grazia, Pracella, Riccardo, Giachino, Daniela, Celli, Luca, Baldo, Demetrio, Turolla, Licia, Piccione, Maria, Salzano, Emanuela, Busè, Martina, Lastella, Patrizia, Zollino, Marcella, Cantone, Rachele, Grosso, Enrico, Zonta, Andrea, Pasini, Barbara, Piscopo, Carmelo, De Maggio, Ilaria, Priolo, Manuela, Mammi, Corrado, Foiadelli, Thomas, Trabatti, Chiara, Savasta, Salvatore, Iolascon, Achille, Ferraris, Alessandro, Lodato, Valentina, Di Giosaffatte, Niccolò, Majore, Silvia, Selicorni, Angelo, Petracca, Antonio, Fusco, Carmela, Celli, Mauro, Guarnieri, Vito, Micale, Lucia, Castori, Marco
Published in Human genetics (01.06.2023)
Published in Human genetics (01.06.2023)
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Phenotypic variability in developmental coordination disorder: Clustering of generalized joint hypermobility with attention deficit/hyperactivity disorder, atypical swallowing and narrative difficulties
Celletti, Claudia, Mari, Giorgia, Ghibellini, Giulia, Celli, Mauro, Castori, Marco, Camerota, Filippo
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2015)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.03.2015)
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Polyostotic Fibrous Dysplasia Mimicking Bone Involvement in Hodgkin Lymphoma: A Pediatric Case and Literature Review
Lapietra, Gianfranco, Moleti, Maria Luisa, Giona, Fiorina, Turchetti, Arianna, Celli, Mauro, Corsi, Alessandro, Zambrano, Anna, D'Avanzo, Miriam, Celli, Luca, Testi, Anna Maria
Published in Acta haematologica (01.03.2021)
Published in Acta haematologica (01.03.2021)
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