Results 101 to 110 of about 4,108 (238)

A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate

open access: gold, 2022
Caixia Xian   +12 more
openalex   +1 more source

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

open access: yesPrague Medical Report, 2017
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek   +9 more
doaj   +1 more source

Clinical study of the treatment of digital exostosis by introducing a biocompatible gel [PDF]

open access: yes
Antecedentes. La exóstosis digital es una patología común que se presenta con frecuencia en las consultas de podología. A pesar del alto grado de incidencia es una entidad clínica muy poco estudiada.
Bonill a Toyos, Elvira Mª   +5 more
core   +2 more sources

Multiple osteochondromas [PDF]

open access: yes, 2008
Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. The prevalence is estimated at 1:50,000, and it seems to be higher in males (male-to-female ratio 1.5:1 ...
Bovée, Judith VMG
core   +3 more sources

Importância do estudo multigénico no diagnóstico molecular de doenças raras por sequenciação de nova geração [PDF]

open access: yes, 2019
Introdução: A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular das doenças raras (DR) proporcionando a análise de um maior número de genes, resultados mais rápidos e custos reduzidos. A NGS usando diferentes abordagens, possibilita
Gonçalves, João   +4 more
core  

Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management [PDF]

open access: yes, 2004
Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities.
Bovée, Judith VMG   +4 more
core   +4 more sources

The Alignment and Deformity of the Upper Extremity in Hereditary Multiple Exostoses [PDF]

open access: hybrid, 2011
Young-Woo Chung   +3 more
openalex   +1 more source

Hereditary multiple exostoses and porencephaly in a Nigerian child: a case report

open access: yesThe Pan African Medical Journal, 2018
Hereditary multiple exostoses (HME) is a rare condition that is characterised by the outgrowth of bony swellings, usually from the growth ends of long bones. It is autosomal dominant, and may result in debilitating deformities.
Idris Abiodun Adedeji   +4 more
doaj   +1 more source

Osteochondroma of the mandibular condyle: Resection and reconstruction using vertical sliding osteotomy of the mandibular ramus [PDF]

open access: yes, 2009
Osteochondroma is one of the most common benign bone tumours, although not in the craniofacial region. More than half of these appear in the coronoid process.
Escrig de Teigeiro, M.   +4 more
core  

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