Results 141 to 150 of about 1,261 (184)

Phenotypic Spectrum in Three Romanian Patients with 8q23-q24 Deletions. [PDF]

open access: yesInt J Mol Sci
Caramizaru A   +11 more
europepmc   +1 more source

A Unique Case of Hereditary Multiple Osteochondromas in the Feet [PDF]

open access: yesForensic Anthropology, 2023
This report describes the differential diagnosis of osseous growths in the first metatarsals of an adult male previously unreported in the literature. Examination of the remains via macroscopic analysis and conventional radiography identified unusual bilateral growths arising from the lateral aspects of the first metatarsals with growth directed ...
Clara Devota   +3 more
openaire   +2 more sources

Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas

Journal of Genetics, 2015
The purpose of this study was to perform genetic screening of the exostosin 1 (EXT1) and exostosin 2 (EXT2) genes in Cypriot patients with a clinical diagnosis of hereditary multiple osteochondromas (HMO). Initially, mutation analysis of the EXT1 gene was performed by Sanger sequencing.
George A Tanteles   +2 more
exaly   +3 more sources

A New Classification System for Forearm Deformities Caused by Hereditary Multiple Osteochondromas

Journal of Hand Surgery
The objective of this study was to evaluate the Masada and Jo classifications for clinical use in patients with forearm deformity caused by hereditary multiple osteochondroma and propose a new classification system that is all-inclusive and can guide clinical management.A retrospective review of 275 forearms was performed.
Chloe Xiaoyun Chan   +2 more
exaly   +3 more sources

Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas [PDF]

open access: yesCancer Genetics, 2015
Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder caused by mutations in the exostosin-1 (EXT1) or exostosin-2 (EXT2) genes. In this study, we report the analysis of the mutational status of the EXT2 gene in tumor samples derived ...
Nicolò Musso   +2 more
exaly   +3 more sources

EXT-Mutation Analysis and Loss of Heterozygosity in Sporadic and Hereditary Osteochondromas and Secondary Chondrosarcomas [PDF]

open access: yesAmerican Journal of Human Genetics, 1999
SummaryOsteochondromas occur as sporadic solitary lesions or as multiple lesions, characterizing the hereditary multiple exostoses syndrome (EXT). Approximately 15% of all chondrosarcomas arise within the cartilaginous cap of an osteochondroma.
Judith V M G Bovee   +2 more
exaly   +2 more sources

Surgical hip dislocation according to Ganz for excision of osteochondromas in patients with multiple hereditary exostoses [PDF]

open access: yesBone and Joint Journal, 2016
Aims We report a prospective cohort study of the midterm results of surgical dislocation of the hip (according to Ganz) to perform resection of osteochondromas involving the femoral neck in patients with multiple hereditary exostoses (MHE).
Scholtes, V. A B   +5 more
exaly   +2 more sources

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