The line between COVID-19 pandemic and rare bone diseases

par Sangiorgi, Luca, Brizola, Evelise
Publié dans Ir J Med Sci (2020)

Skeletal dysplasias: approach to the clinical diagnosis and implication of appropriate diagnosis for knowledge and research studies in these rare diseases. Hereditary multiple Oste...

par Gnoli, Maria, Pedrini, Elena, Mordenti, Marina, Tremosini, Morena, Sangiorgi, Luca
Publié 2014

Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex Ligati...

par Jennes, Ivy, Entius, Mark M., Van Hul, Els, Parra, Alessandro, Sangiorgi, Luca, Wuyts, Wim
Publié 2008

Hereditary multiple exostoses and solitary osteochondroma associated with growth hormone deficiency: to treat or not to treat?

par Bozzola, Mauro, Gertosio, Chiara, Gnoli, Maria, Baronio, Federico, Pedrini, Elena, Meazza, Cristina, Sangiorgi, Luca
Publié dans Ital J Pediatr (2015)

Ebstein’s anomaly in a child with osteogenesis imperfecta type I

par D’Eufemia, Patrizia, Celli, Mauro, Versacci, Paolo, Zambrano, Anna, Lodato, Valentina, Persiani, Pietro, Sangiorgi, Luca
Publié 2011

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

par Brizola, Evelise, Gnoli, Maria, Tremosini, Morena, Nucci, Paolo, Bargiacchi, Sara, La Barbera, Andrea, Giglio, Sabrina, Sangiorgi, Luca
Publié dans Mol Genet Genomic Med (2020)

Aging and Imaging Assessment of Body Composition: From Fat to Facts

par Ponti, Federico, Santoro, Aurelia, Mercatelli, Daniele, Gasperini, Chiara, Conte, Maria, Martucci, Morena, Sangiorgi, Luca, Franceschi, Claudio, Bazzocchi, Alberto
Publié dans Front Endocrinol (Lausanne) (2020)

Child abuse and osteogenesis imperfecta: how can they be still misdiagnosed? A case report

par D’Eufemia, Patrizia, Palombaro, Marta, Lodato, Valentina, Zambrano, Anna, Celli, Mauro, Persiani, Pietro, De Bari, Maria Pia, Sangiorgi, Luca
Publié 2012

Canine tumor cross-species genomics uncovers targets linked to osteosarcoma progression

par Paoloni, Melissa, Davis, Sean, Lana, Susan, Withrow, Stephen, Sangiorgi, Luca, Picci, Piero, Hewitt, Stephen, Triche, Timothy, Meltzer, Paul, Khanna, Chand
Publié 2009

Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas

par Veraldi, Noemi, Parra, Alessandro, Urso, Elena, Cosentino, Cesare, Locatelli, Manuela, Corsini, Serena, Pedrini, Elena, Naggi, Annamaria, Bisio, Antonella, Sangiorgi, Luca
Publié dans Molecules (2018)

COL1-Related Disorders: Case Report and Review of Overlapping Syndromes

par Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Pedrini, Elena, Maioli, Margherita, Mosca, Massimiliano, Bassotti, Alessandra, Castronovo, Paola, Giunta, Cecilia, Sangiorgi, Luca
Publié dans Front Genet (2021)

Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

par Gaudio, Agostino, Xourafa, Anastasia, Rapisarda, Rosario, Gorgone, Cristina, Gnoli, Maria, Pedrini, Elena, Sangiorgi, Luca, Catalano, Antonino, Zanoli, Luca, Mattina, Teresa, Castellino, Pietro
Publié dans Clin Case Rep (2020)

Outcomes of Temporary Hemiepiphyseal Stapling for Correcting Genu Valgum in Children with Multiple Osteochondromas: A Single Institution Study

par Trisolino, Giovanni, Boarini, Manila, Mordenti, Marina, Evangelista, Andrea, Gallone, Giovanni, Stallone, Stefano, Zarantonello, Paola, Antonioli, Diego, Di Gennaro, Giovanni Luigi, Stilli, Stefano, Sangiorgi, Luca
Publié dans Children (Basel) (2021)

Genome-wide analysis of Ollier disease: Is it all in the genes?

par Pansuriya, Twinkal C, Oosting, Jan, Krenács, Tibor, Taminiau, Antonie HM, Verdegaal, Suzan HM, Sangiorgi, Luca, Sciot, Raf, Hogendoorn, Pancras CW, Szuhai, Karoly, Bovée, Judith VMG
Publié 2011

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

par 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
Publié dans Eur J Hum Genet (2019)

Clinical, Histological, and Molecular Features of Solitary Fibrous Tumor of Bone: A Single Institution Retrospective Review

par Bianchi, Giuseppe, Lana, Debora, Gambarotti, Marco, Ferrari, Cristina, Sbaraglia, Marta, Pedrini, Elena, Pazzaglia, Laura, Sangiorgi, Luca, Bartolotti, Isabella, Dei Tos, Angelo Paolo, Scotlandi, Katia, Righi, Alberto
Publié dans Cancers (Basel) (2021)

In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients

par Lucarelli, Enrico, Bellotti, Chiara, Mantelli, Melissa, Avanzini, Maria Antonietta, Maccario, Rita, Novara, Francesca, Arrigo, Giulia, Zuffardi, Orsetta, Zuntini, Monia, Pandolfi, Martina, Sangiorgi, Luca, Lisini, Daniela, Donati, Davide, Duchi, Serena
Publié 2014

The Type 2 Diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis

par Sgariglia, Federica, Pedrini, Elena, Bradfield, Jonathan P., Bhatti, Tricia R., D'Adamo, Pio, Dormans, John P., Gunawardena, Aruni T., Hakonarson, Hakon, Hecht, Jacqueline T., Sangiorgi, Luca, Pacifici, Maurizio, Enomoto-Iwamoto, Motomi, Grant, Struan F.A.
Publié dans Bone (2014)

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

par Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea
Publié 2008

Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

par Hermanns, Pia, Unger, Sheila, Rossi, Antonio, Perez-Aytes, Antonio, Cortina, Hector, Bonafé, Luisa, Boccone, Loredana, Setzu, Valeria, Dutoit, Michel, Sangiorgi, Luca, Pecora, Fabio, Reicherter, Kerstin, Nishimura, Gen, Spranger, Jürgen, Zabel, Bernhard, Superti-Furga, Andrea
Publié 2008