Results 11 to 20 of about 6,285,374 (227)

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas [PDF]

Frontiers in Genetics
Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 genes,
Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Konstantin Zherdev, Aleksandr Petel’guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skoblov   +18 more
doaj   +3 more sources

The Rizzoli Multiple Osteochondromas Classification revised: describing the phenotype to improve clinical practice. [PDF]

Am J Med Genet A, 2021
Multiple osteochondromas (MO) is a rare disorder, characterized by benign osteocartilaginous tumors (osteochondromas), arising from the perichondrium of bones.
Mordenti M, Gnoli M, Boarini M, Trisolino G, Evangelista A, Pedrini E, Corsini S, Tremosini M, Staals EL, Antonioli D, Stilli S, Donati DM, Sangiorgi L.   +12 more
europepmc   +4 more sources

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb) [PDF]

Human Mutation, 2009
Multiple osteochondromas (MO) is an autosomal dominant skeletal disease characterized by the formation of multiple cartilage-capped bone tumors growing outward from the metaphyses of long tubular bones. MO is genetically heterogeneous, and is associated with mutations in Exostosin-1 (EXT1) or Exostosin-2 (EXT2), both tumor-suppressor genes of the EXT ...
Jennes, Ivy, Pedrini, Elena, Zuntini, Monia, Mordenti, Marina, Balkassmi, Sahila, Asteggiano, Carla G., Casey, Brett, Bakker, Bert, Sangiorgi, Luca, Wuyts, Wim   +9 more
openaire   +5 more sources

The natural history of multiple osteochondromas in a large Italian cohort of pediatric patients.

Bone, 2020
IMPORTANCE Multiple osteochondromas is a rare hereditary skeletal disorder, characterized by bony protrusions arising from growth plates on long bones during skeletal development.
Marina Mordenti, F. Shih, M. Boarini, E. Pedrini, M. Gnoli, D. Antonioli, M. Tremosini, L. Sangiorgi   +7 more
semanticscholar   +3 more sources

EXT1 and EXT2 Variants in 22 Chinese Families With Multiple Osteochondromas: Seven New Variants and Potentiation of Preimplantation Genetic Testing and Prenatal Diagnosis [PDF]

Frontiers in Genetics, 2020
Multiple osteochondromas (MO), the most common type of benign bone tumor, is an autosomal dominant skeletal disorder characterized by multiple cartilage-capped bony protuberances.
Ye Wang, Liangying Zhong, Yan Xu, Yan Xu, Lei Ding, Yuanjun Ji, Sacha Schutz, Sacha Schutz, Claude Férec, Claude Férec, David N. Cooper, Caixia Xu, Jian-Min Chen, Yanmin Luo   +13 more
doaj   +2 more sources

Bone deformities with hereditary multiple osteochondromas

Danish Medical Journal
INTRODUCTION. Hereditary multiple osteochondromas (HMO) is a genetic skeletal disorder caused by defects in exostosin glycosyltransferase 1 (EXT1) or 2 (EXT2) genes. It develops mainly in the growth period and causes multiple osteochondromas (OC) in the physis of the long bones, leading to discomfort and deformities. This study aimed to investigate the
Brink Petersen, Rikke, Buch, Christina Damgaard, Færgemann, Christian, Nymark, Tine   +3 more
openaire   +4 more sources

Prevalence of Osteochondromas in the Spine in Patients with Multiple Hereditary Exostoses

JBJS Open Access
Background:. Multiple hereditary exostoses (MHE) is an autosomal-dominant disorder characterized by the development of multiple cartilage-capped exostoses originating from the physis that are known as osteochondromas.
Carlos Monroig-Rivera, MD, Lauren Bockhorn, MD, David Thornberg, BS, Brenda Santillan, BS, Karl E. Rathjen, MD   +4 more
doaj   +2 more sources

Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas [PDF]

Molecules, 2018
Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix of growth plate cartilage, which alters ...
Noemi Veraldi, Alessandro Parra, Elena Urso, Cesare Cosentino, Manuela Locatelli, Serena Corsini, Elena Pedrini, Annamaria Naggi, Antonella Bisio, Luca Sangiorgi   +9 more
doaj   +2 more sources

Osteochondroma Arising from Dorsal Pedicle Causing Compressive Myelopathy [PDF]

Journal of Orthopaedic Case Reports
Introduction: Osteochondromas are benign bony neoplasms typically located in long bones, though they may occasionally occur in the posterior elements of the spine.
Mantu Jain, Nikhil Unnava, Rabi Narayan Sahu, Kanav Gupta, Raghavendra Balagod, Abhijith K Jayan   +5 more
doaj   +2 more sources

Differentiation of Pediatric Osteochondroma From Trevor's Disease and Successful Surgical Management: A Case Report. [PDF]

Case Rep Orthop
Osteochondroma is the most common benign bone tumor; however, its presentation in the small bones of the appendicular skeleton, particularly the talus and subtalar joint, is quite rare. Although most cases of osteochondroma are asymptomatic, symptomatic presentations can lead to joint deformity, pain, swelling, tarsal tunnel syndrome, gait alterations,
Montalbano A, Furyes A, Spangler M, Lewis A.   +3 more
europepmc   +2 more sources