Opportunities and Challenges for Machine Learning in Rare Diseases

by Sergio Decherchi, Elena Pedrini, Marina Mordenti, Andrea Cavalli, Andrea Cavalli, Luca Sangiorgi
Published 2021-10-01

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

by Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera, Sabrina Giglio, Luca Sangiorgi
Published 2020-09-01

Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas

by Noemi Veraldi, Alessandro Parra, Elena Urso, Cesare Cosentino, Manuela Locatelli, Serena Corsini, Elena Pedrini, Annamaria Naggi, Antonella Bisio, Luca Sangiorgi
Published 2018-12-01

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

by Agostino Gaudio, Anastasia Xourafa, Rosario Rapisarda, Cristina Gorgone, Maria Gnoli, Elena Pedrini, Luca Sangiorgi, Antonino Catalano, Luca Zanoli, Teresa Mattina, Pietro Castellino
Published 2021-02-01

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

by Maria Gnoli, Evelise Brizola, Morena Tremosini, Elena Pedrini, Margherita Maioli, Massimiliano Mosca, Alessandra Bassotti, Alessandra Bassotti, Paola Castronovo, Paola Castronovo, Cecilia Giunta, Luca Sangiorgi
Published 2021-05-01

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

by Federico Ponti, Aurelia Santoro, Aurelia Santoro, Daniele Mercatelli, Chiara Gasperini, Maria Conte, Maria Conte, Morena Martucci, Luca Sangiorgi, Claudio Franceschi, Claudio Franceschi, Alberto Bazzocchi
Published 2020-01-01

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

by Giovanni Trisolino, Manila Boarini, Marina Mordenti, Andrea Evangelista, Giovanni Gallone, Stefano Stallone, Paola Zarantonello, Diego Antonioli, Giovanni Luigi Di Gennaro, Stefano Stilli, Luca Sangiorgi
Published 2021-04-01

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

by Giuseppe Bianchi, Debora Lana, Marco Gambarotti, Cristina Ferrari, Marta Sbaraglia, Elena Pedrini, Laura Pazzaglia, Luca Sangiorgi, Isabella Bartolotti, Angelo Paolo Dei Tos, Katia Scotlandi, Alberto Righi
Published 2021-05-01

Establishing the first pan-European Registry for rare bone and mineral disorders: EuRR-Bone

by Corinna Grasemann, Marina Mordenti, Inês Alves, Rebecca Skarberg, Ondrej Soucek, Marco Roos, M. Kassim Javaid, S. Faisal Ahmed, Agnès Lignart, Klaus Mohnike, Wolfgang Högler, Luca Sangiorgi, Natasha M. Appelman-Dijkstra
Published 2020-10-01

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

by Chiara Baldo, Lorena Casareto, Alessandra Renieri, Giuseppe Merla, Barbara Garavaglia, Stefano Goldwurm, Elena Pegoraro, Maurizio Moggio, Marina Mora, Luisa Politano, Luca Sangiorgi, Raffaella Mazzotti, Valeria Viotti, Ilaria Meloni, Maria Teresa Pellico, Chiara Barzaghi, Chiuhui Mary Wang, Lucia Monaco, Mirella Filocamo
Published 2016-10-01

The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone): First year experience of the use of an e-reporting tool

by Ana Luisa Priego Zurita, Agnès Linglart, Inês Alves, Renata Simona Auriemma, Manila Boarini, Jillian Bryce, Luisa DeSanctis, Diana-Alexandra Ertl, Hoong-Wei Gan, Corinna Grasemann, Wolfgang Högler, M. Kassim Javaid, Klaus Mohnike, Marina Mordenti, Adalbert Raimann, Luca Sangiorgi, Marco Roos, Rebecca Skarberg, Ondrej Soucek, Judit Toke, Erica van den Akker, Almudena Vicente, Ahmed S. Faisal, Natasha Appelman-Dijkstra
Published 2021-04-01

A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders

by Melissa M. Formosa, Melissa M. Formosa, Dylan J. M. Bergen, Dylan J. M. Bergen, Celia L. Gregson, Antonio Maurizi, Anders Kämpe, Anders Kämpe, Natalia Garcia-Giralt, Wei Zhou, Daniel Grinberg, Diana Ovejero Crespo, M. Carola Zillikens, Graham R. Williams, J. H. Duncan Bassett, Maria Luisa Brandi, Luca Sangiorgi, Susanna Balcells, Wolfgang Högler, Wolfgang Högler, Wim Van Hul, Outi Mäkitie, Outi Mäkitie, Outi Mäkitie
Published 2021-08-01

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

by Margot E Bowen, Eric D Boyden, Ingrid A Holm, Belinda Campos-Xavier, Luisa Bonafé, Andrea Superti-Furga, Shiro Ikegawa, Valerie Cormier-Daire, Judith V Bovée, Twinkal C Pansuriya, Sérgio B de Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M Regazzoni, Wim Wuyts, Luca Sangiorgi, Elena Pedrini, Mei Zhu, Harry P Kozakewich, James R Kasser, Jon G Seidman, Kyle C Kurek, Matthew L Warman
Published 2011-04-01