Results 81 to 90 of about 713 (172)
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]
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]
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]
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]
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
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]
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]
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]
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
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

