The line between COVID-19 pandemic and rare bone diseases

por Sangiorgi, Luca, Brizola, Evelise
Publicado 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...

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

Opportunities and Challenges for Machine Learning in Rare Diseases

por Decherchi, Sergio, Pedrini, Elena, Mordenti, Marina, Cavalli, Andrea, Sangiorgi, Luca
Publicado 2021

Vitamin D and Bone fragility in Individuals with Osteogenesis Imperfecta: A Scoping Review

por Gnoli, Maria, Brizola, Evelise, Tremosini, Morena, Di Cecco, Alessia, Sangiorgi, Luca
Publicado 2023

An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease

por Corsini, Serena, Pedrini, Elena, Patavino, Claudio, Gnoli, Maria, Lanza, Marcella, Sangiorgi, Luca
Publicado 2022

Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations

por Mordenti, Marina, Boarini, Manila, D’Alessandro, Fabio, Pedrini, Elena, Locatelli, Manuela, Sangiorgi, Luca
Publicado 2022

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 2015

Cost-effectiveness of bringing a nurse into an Italian genetic day clinic: a before and after study

por Mordenti, Marina, Tremosini, Morena, Locatelli, Manuela, Gnoli, Maria, Forni, Cristiana, Pedrini, Elena, Boarini, Manila, Sangiorgi, Luca
Publicado 2023

Preanalytical DNA assessment for downstream applications: How to optimize the management of human biospecimens to support molecular diagnosis—An experimental study

por Mordenti, Marina, Capicchioni, Valentina, Corsini, Serena, Locatelli, Manuela, Abelli, Elisabetta, Banchelli, Federico, Boarini, Manila, Sangiorgi, Luca
Publicado 2022

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

por Brizola, Evelise, Gnoli, Maria, Tremosini, Morena, Nucci, Paolo, Bargiacchi, Sara, La Barbera, Andrea, Giglio, Sabrina, Sangiorgi, Luca
Publicado 2020

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

por Ponti, Federico, Santoro, Aurelia, Mercatelli, Daniele, Gasperini, Chiara, Conte, Maria, Martucci, Morena, Sangiorgi, Luca, Franceschi, Claudio, Bazzocchi, Alberto
Publicado 2020

Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations

por Spinnato, Paolo, Pedrini, Elena, Petrera, Miriana Rosaria, Zarantonello, Paola, Trisolino, Giovanni, Sangiorgi, Luca, Carpenzano, Maria, Crombé, Amandine, Tetta, Cecilia
Publicado 2022

High-resolution peripheral quantitative computed tomography: research or clinical practice?

por Gazzotti, Silvia, Aparisi Gómez, Maria Pilar, Schileo, Enrico, Taddei, Fulvia, Sangiorgi, Luca, Fusaro, Maria, Miceli, Marco, Guglielmi, Giuseppe, Bazzocchi, Alberto
Publicado 2023

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

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

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 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 2021

Real-World Data and Budget Impact Analysis (BIA): Evaluation of a Targeted Next-Generation Sequencing Diagnostic Approach in Two Orthopedic Rare Diseases

por Pedrini, Elena, Negro, Antonella, Di Brino, Eugenio, Pecoraro, Valentina, Sculco, Camilla, Abelli, Elisabetta, Gnoli, Maria, Magrelli, Armando, Sangiorgi, Luca, Cicchetti, Americo
Publicado 2022

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 2020

Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

por Javaid, Muhammad Kassim, Mordenti, Marina, Boarini, Manila, Sangiorgi, Luca, Westerheim, Ingunn, Alves, Inês, Skarberg, Rebecca Tvedt, Appelman-Dijkstra, Natasha M., Grasemann, Corinna
Publicado 2021

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

por Trisolino, Giovanni, Boarini, Manila, Mordenti, Marina, Evangelista, Andrea, Gallone, Giovanni, Stallone, Stefano, Zarantonello, Paola, Antonioli, Diego, Di Gennaro, Giovanni Luigi, Stilli, Stefano, Sangiorgi, Luca
Publicado 2021