Results 31 to 40 of about 6,285,374 (227)

Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients. [PDF]

Genes (Basel), 2022
Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic ...
Caino S, Cubilla MA, Alba R, Obregón MG, Fano V, Gómez A, Zecchini L, Lapunzina P, Aza-Carmona M, Heath KE, Asteggiano CG.   +10 more
europepmc   +2 more sources

A Novel Pathogenic Large Duplication in EXT1 Identified in a Family with Multiple Osteochondromas. [PDF]

Genes (Basel)
Multiple osteochondromas (MO) is an autosomal dominant disorder and the most common genetic skeletal dysplasia, characterized by the growth of bone outgrowths capped by cartilage, called osteochondromas.
Bartolotti I, Sobul K, Corsini S, Scognamiglio D, Moroni A, Gnoli M, Sangiorgi L, Pedrini E.   +7 more
europepmc   +2 more sources

Health-related quality of life and associated risk factors in patients with Multiple Osteochondromas: a cross-sectional study. [PDF]

Qual Life Res
To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients. A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the referral center for rare ...
Boarini M, Tremosini M, Di Cecco A, Gnoli M, Brizola E, Mordenti M, Pedrini E, Locatelli M, Lanza M, Antonioli D, Gallone G, Rocca G, Staals EL, Trisolino G, Sangiorgi L.   +14 more
europepmc   +2 more sources

Subacromial osteochondroma and rotator cuff tear in a young adult with multiple osteochondromas [PDF]

JSES Reviews, Reports, and Techniques, 2022
We present a rare case of rotator cuff injury and biceps tendinitis due to multiple osteochondromas of the shoulder of a 20-year-old woman. The patient presented with longstanding atraumatic anterior shoulder pain and rotator cuff weakness.
Milos Spasojevic, Samuel P. Mackenzie, Allan Young, Benjamin Cass   +3 more
openaire   +4 more sources

The Missing Piece of the Puzzle: Unveiling the Role of <i>PTPN11</i> Gene in Multiple Osteochondromas in a Large Cohort Study. [PDF]

Hum Mutat
This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis of MO typically involves identifying multiple benign bone tumors known as osteochondromas (
Borovikov A, Galeeva N, Marakhonov A, Murtazina A, Kadnikova V, Davydenko K, Orlova A, Sparber P, Markova T, Orlova M, Osipova D, Nagornova T, Semenova N, Levchenko O, Filatova A, Sharova M, Vasiluev P, Kanivets I, Pyankov D, Sharkov A, Udalova V, Kenis V, Nikitina N, Sumina M, Zherdev K, Petel'guzov A, Chelpachenko O, Zubkov P, Dan I, Snetkov A, Akinshina A, Buklemishev Y, Ryzhkova O, Tabakov V, Zakharova E, Korostelev S, Zinchenko R, Skoblov M, Polyakov A, Dadali E, Kutsev S, Shchagina O.   +41 more
europepmc   +2 more sources

Rare coexistence of multiple osteochondromas and solitary osteoid osteoma: A case report. [PDF]

Mol Clin Oncol, 2023
Multiple osteochondromas (MOs) are inherited in an autosomal-dominant manner, with a penetrance of ~96 and 100% in female and male patients, respectively.
Katsuki R, Oshiro H, Aoki Y, Mizuta K, Tome Y, Nishida K.   +5 more
europepmc   +2 more sources

Transitional care of adolescents with Multiple Osteochondromas: a convergent mixed-method study 'Patients', parents' and healthcare providers' perspectives on the transfer process'. [PDF]

BMJ Open, 2021
Objectives Multiple osteochondromas (MO) is a rare hereditary disease characterised by numerous benign bone tumours. Its chronic aspect requires a well-organised transition from paediatric care to adult care; however, little is known on organising this ...
Amajjar I, Malik R, van Wier M, Smeets R, Ham SJ.   +4 more
europepmc   +2 more sources

Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas. [PDF]

Mol Syndromol, 2021
Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder, which typically manifests as skeletal dysplasia, mainly involving long bones and knees, ankles, elbows, wrists, shoulders, and pelvis.
Wang CY, Yu F, Jin JY, He JQ, Fan LL, Tang JY, Xiang R.   +6 more
europepmc   +2 more sources

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]

, 2013
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively.
Anton, J., Armstrong, J., Artuch, R., Asteggiano, Carla Gabriela, Balcells, S., Delgado, María Andrea, Grinberg, D., Lapunzina, P., Martorell, L., Nevado, J., Sangorrin, A., Sarrión, P., Torner, F., Urreizti, R., Vilaseca, M. A.   +14 more
core   +4 more sources

An unusual diagnosis for an usual test

Italian Journal of Pediatrics, 2020
Background Hereditary multiple osteochondromas (HMO) is a genetic condition characterized by the presence of multiple osteochondromas, usually at the lateral side of the most active growth plate of a long bone.
Andrea Trombetta, Vanessa Migliarino, Flavio Faletra, Egidio Barbi, Gianluca Tornese   +4 more
doaj   +1 more source