, 2022 BACKGROUND: There is a high rate of lower limb deformity and limb length discrepancy in patients with hereditary multiple exostoses (HME). The aim of this study was to evaluate the type and frequency of lower limbs axial deviation and limb length discrepancy and the type of exostoses being risk factors for theses deformities.
Madoki, Alexandre +3 more
openaire +1 more source
A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.
PLoS ONE, 2014 BackgroundHereditary multiple exostoses (HME) is an autosomal dominant disease. The classical paradigm of mutation screening seeks to relate alterations in the exostosin glycosyltransferase genes, EXT1 and EXT2, which are responsible for over 70% of HME ...
Chen Tian +8 more
doaj +1 more source
Toward the development of small molecules for unconventional targets and diseases [PDF]
, 2019 This thesis is focused on the development of small molecules for unconventional targets and diseases: the Store-Operated Calcium Entry (SOCE) machinery, the enzyme indoleamine 2,3 dioxygenase 1 (IDO1) and hereditary multiple exostoses (HME) disease.
Griglio, Alessia
core +1 more source
Hereditary multiple exostoses in a15-year-old boy: A case report and review of literature
Nigerian Journal of Paediatrics, 2016 Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses ...
Eke GK , Omunakwe HE , Echem RC
doaj
Osteochondroma of the distal tibia with associated varus deformity of ankle [PDF]
Osteochondroma or exostosis is a bony developmental anomaly, which arises from exophytic outgrowth on bone surfaces characteristically. The most common site is the distal femur followed by the proximal humerus and proximal tibia.
Kapadiya, Shubham S. +4 more
core +2 more sources
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
Therapeutics and Clinical Risk Management, 2016 Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S +6 more
doaj
Pneumothorax Resulting from Costal Osteochondroma [PDF]
, 2016 Osteochondromas are the most common neoplasm of the bone. Two percent of these tumors grow in the chest wall, and can cause severe complications such as pneumothorax.
Jeffrey, Erin L
core +1 more source
Hip Joint Osteochondroma: Systematic Review of the Literature and Report of Three Further Cases
Advances in Orthopedics, 2014 The aim of this study is to systematically review the literature with regards to surgical treatment of patients with hip joint osteochondromas, and to report our surgical management of three paediatric patients who had femoral neck or acetabular ...
Asim M. Makhdom +5 more
doaj +1 more source
HSPG-Deficient Zebrafish Uncovers Dental Aspect of Multiple Osteochondromas [PDF]
, 2012 Multiple Osteochondromas (MO; previously known as multiple hereditary exostosis) is an autosomal dominant genetic condition that is characterized by the formation of cartilaginous bone tumours (osteochondromas) at multiple sites in the skeleton ...
A Clément +42 more
core +4 more sources
Detailed Description and Nomenclature of High Resolution G-Banded Horse Chromosomes and Cytogenetic Analysis of Hereditary Multiple Exostosis in Horses [PDF]
, 1984 A reliable technique for obtaining late prophase, prometaphase and greater numbers of metaphase chromosomes is presented. The increased number of mitoses and high resolution chromosomes were obtained using a modification of the typical three-day blood ...
Maciulis, Alma
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