Results 31 to 40 of about 9,014 (240)

Bilateral scapulothoracic osteochondromas in a patient with hereditary multiple exostosis: a case report and review of the literature

Orthopedic Reviews, 2016
Hereditary multiple exostosis (HME) is an autosomal dominant disorder characterized by two or more benign growing, cartilage capped tumors of long bones called osteochondromas.
Markus Rupp, Jendrik Hardes, Michael J. Raschke, Adrian Skwara   +3 more
doaj   +1 more source

Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses [PDF]

, 2015
Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1/EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de ...
Asteggiano, Carla Gabriela, Balcells, Susana, Bracho, Ana, Cammarata Scalisi, Francisco, Chacín, José Antonio, Cozar, Mónica, Delgado Luengo, Wilmer, Grinberg, Daniel, Martínez Domenech, Enzo J Gustavo, Stock, Frances, Sánchez, Yanira, Zara Chirinos, Carmen   +11 more
core   +1 more source

High-resolution mapping of cancer cell networks using co-functional interactions. [PDF]

, 2018
Powerful new technologies for perturbing genetic elements have recently expanded the study of genetic interactions in model systems ranging from yeast to human cell lines.
Boyle, Evan A, Greenleaf, William J, Pritchard, Jonathan K   +2 more
core   +1 more source

RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

Molecular Genetics & Genomic Medicine, 2019
We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas.
Gavin R. Oliver, P. Blackburn, Marissa S. Ellingson, Erin Conboy, F. Pinto e Vairo, Matthew R. Webley, E. Thorland, M. Ferber, E. Van Hul, Ilse M. van der Werf, W. Wuyts, D. Babovic‐Vuksanovic, E. Klee   +12 more
semanticscholar   +1 more source

Current paediatric orthopaedic practice in hereditary multiple osteochondromas of the forearm: a systematic review

SICOT-J, 2018
Introduction: This systematic review aims to answer three research questions concerning the management of hereditary multiple osteochondromas of forearm in children: What is the best available evidence for the currently employed surgical procedures? What
T. El-Sobky, S. Samir, A. Atiyya, Shady A Mahmoud, A. Aly, R. Soliman   +5 more
semanticscholar   +1 more source

Autologous Fat Grafting as a Last Resort for Unsustainable Pain in a Woman with Multiple Osteochondromas

Archives of Plastic Surgery, 2017
Multiple osteochondromas (MO) is characterized by the formation of osteochondromas throughout the entire body. Although the evidence regarding its pathogenesis is well understood, no curative treatment for the disorder is available.
Vera Lidwina Negenborn, Esther Moerman, Simon Johannes Ham   +2 more
doaj   +1 more source

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

Molecular Genetics & Genomic Medicine, 2018
Multiple osteochondromas is a dysplasia characterized by growth of two or more osteochondromas. It is genetically heterogeneous, caused by pathogenic variants in EXT1 or EXT2 genes in 70%–90% of patients.
S. Santos, I. Rizzo, R. I. Takata, C. Speck-Martins, J. M. Brum, C. Sollaci   +5 more
semanticscholar   +1 more source

Prognostic Factors in Dedifferentiated Chondrosarcoma: A Retrospective Analysis of a Large Series Treated at a Single Institution. [PDF]

, 2019
Background:Dedifferentiated chondrosarcomas (DDCSs) are highly malignant tumors with a dismal prognosis and present a significant challenge in clinical management.
Chebib, Ivan, Chen, Yen-Lin E, Choy, Edwin, Cote, Gregory M, DeLaney, Thomas F, Deshpande, Vikram, Hornicek, Francis J, Miao, Ruoyu, Nielsen, Gunnlaugur Petur, Raskin, Kevin A, Schwab, Joseph H   +10 more
core   +1 more source

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   +1 more source

Pseudotumors and tumors of the temporomandibular joint: a review [PDF]

, 2013
Objective: To review the pseudotumors and tumors of the temporomandibular joint (TMJ) published in journals included in Journal Citation Reports (JCR), and to evaluate whether there are clinical and radiological signs capable of differentiating between ...
Bagán Sebastián, José Vicente, Margaix Muñoz, María, Poveda Roda, Rafael, Sanchís Bielsa, José María   +3 more
core   +1 more source