Results 131 to 140 of about 1,873 (147)

Multiple Osteochondromas

open access: yes, 2002
Hogendoorn, P.C.W., Bovée, J.V.M.G.
core  

Multiple osteochondromas in the archaeological record: a global review

open access: yesJournal of Archaeological Science, 2010
Multiple osteochondromas is an inherited autosomal dominant condition of enchondral bone growth. The paper undertakes the first synthesis study of the 16 known cases of the condition that have been identified in the international palaeopathological ...
Eileen M Murphy
exaly   +2 more sources

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)

open access: yesHuman Mutation, 2009
: Multiple osteochondromas (MO) is an autosomal dominant skeletal disease characterized by the formation of multiple cartilage-capped bone tumors growing outward from the metaphyses of long tubular bones.
Elena Pedrini   +2 more
exaly   +1 more source

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   +2 more sources

New Mutations of EXT1 and EXT2 Genes in German Patients with Multiple Osteochondromas

open access: yesAnnals of Human Genetics, 2009
Item does not contain fulltextMutations in either the EXT1 or EXT2 genes lead to Multiple Osteochondromas (MO), an autosomal dominantly inherited disorder. This is a report on clinical findings and results of molecular analyses of both genes in 23 German
Wolfram Heinritz   +2 more
exaly   +2 more sources

Novel EXT1 and EXT2 mutations identified by DHPLC in Italian patients with multiple osteochondromas

open access: yesHuman Mutation, 2005
We describe the results of an optimised DHPLC-based mutation screening of the EXT1 and EXT2 genes in Italian patients affected by multiple osteochondromas [MO; also referred to as hereditary multiple exostoses (HME) in the literature], using a multistep ...
Elena Pedrini   +2 more
exaly   +2 more sources

Validation of a new multiple osteochondromas classification through Switching Neural Networks

American Journal of Medical Genetics, Part A, 2013
Marina Mordenti   +2 more
exaly  

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