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

por Gnoli, Maria, Pedrini, Elena, Mordenti, Marina, Tremosini, Morena, Sangiorgi, Luca
Publicado 2014

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

por Bozzola, Mauro, Gertosio, Chiara, Gnoli, Maria, Baronio, Federico, Pedrini, Elena, Meazza, Cristina, Sangiorgi, Luca
Publicado en Ital J Pediatr (2015)

Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas

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

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

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

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

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

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

por 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
Publicado en Eur J Hum Genet (2019)

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

por 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
Publicado en Cancers (Basel) (2021)

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

por 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.
Publicado en Bone (2014)

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

por Bowen, Margot E., Boyden, Eric D., Holm, Ingrid A., Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Andrea, Ikegawa, Shiro, Cormier-Daire, Valerie, Bovée, Judith V., Pansuriya, Twinkal C., de Sousa, Sérgio B., Savarirayan, Ravi, Andreucci, Elena, Vikkula, Miikka, Garavelli, Livia, Pottinger, Caroline, Ogino, Toshihiko, Sakai, Akinori, Regazzoni, Bianca M., Wuyts, Wim, Sangiorgi, Luca, Pedrini, Elena, Zhu, Mei, Kozakewich, Harry P., Kasser, James R., Seidman, Jon G., Kurek, Kyle C., Warman, Matthew L.
Publicado 2011