Results 81 to 90 of about 713 (172)

Late presentation of spinal cord compression in hereditary multiple exostosis: Case reports and review of the literature

open access: yesJournal of Children's Orthopaedics, 2019
Introduction Osteochondromas are usually found in the long bones of patients with hereditary multiple exostoses (HME). The spine is reported to be involved in over 50% of cases, but few of these patients are symptomatic as the result of an existing ...
R. Gigi   +3 more
doaj   +1 more source

EXT2 (exostoses (multiple) 2) [PDF]

open access: yes, 2000
Review on EXT2 (exostoses (multiple) 2), with data on DNA, on the protein encoded, and where the gene is ...
Bovée, JVMG
core   +1 more source

The extostosin family: Proteins with many functions [PDF]

open access: yes, 2014
Heparan sulfates are complex sulfated molecules found in abundance at cell surfaces and in the extracellular matrix. They bind to and influence the activity of a variety of molecules like growth factors, proteases and morphogens and are thus involved in ...
Busse-Wicher, Marta   +2 more
core   +1 more source

Functional consequences of inborn and acquired errors in endothelial glycocalyx heparan sulfates [PDF]

open access: yes, 2015
This thesis focuses on the relevance of endothelial glycocalyx in cardiometabolic disease. The glycocalyx is a glycoprotein-polysaccharide cover that surrounds the cell membranes of nearly all cells.
Mooij, H.L.
core  

EXT1 (exostoses (multiple) 1) [PDF]

open access: yes, 2000
Review on EXT1 (exostoses (multiple) 1), with data on DNA, on the protein encoded, and where the gene is ...
Bovée, JVMG
core   +1 more source

Hereditary Multiple Exostoses: Current Insights

open access: yesOrthopedic Research and Reviews, 2019
Antonio D’Arienzo, Lorenzo Andreani, Federico Sacchetti, Simone Colangeli, Rodolfo Capanna Department of Translational Research on New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Federico SacchettiDepartment of
D'Arienzo A   +4 more
doaj  

Osteochondroma. An Osteological Study [PDF]

open access: yes, 2018
Background: Osteochondroma is the most common tumor of bone, accounting for approximately one third of benign lesions in the skeleton is a broad (sessile) or narrow (pedunculated) skeletal protrusion comprised of marrow and cortical bone.
Ferreira Arquez, Humberto
core   +3 more sources

Golgi proteomics : Identification of a novel cartilage-specific Golgi protein GoPro49 [PDF]

open access: yes, 2009
The Golgi complex is a central organelle of the secretory pathway, responsible for a range of post-translational modifications, as well as for membrane traffic to the plasma membrane and to the endosomal-lysosomal pathway. In addition, this organelle has
Takatalo, Maarit
core  

Preimplantation genetic testing for more than one genetic condition:clinical and ethical considerations and dilemmas [PDF]

open access: yes, 2019
STUDY QUESTION: Which clinical and ethical aspects of preimplantation genetic testing for monogenic disorders or structural rearrangements (PGT-M, PGT-SR) should be considered when accepting requests and counselling couples for PGT when applied for more ...
Coonen, E.   +6 more
core   +2 more sources

A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients

open access: yesBMC Medical Genetics, 2017
Background Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations.
Yuchan Li   +4 more
doaj   +1 more source

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