Results 211 to 220 of about 16,338 (222)

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

Molecular Genetics & Genomic Medicine, 2018
Isabela M P O Rizzo
exaly  

Determination of the mutation spectrum of theEXT1/EXT2genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes inEXTnegative cases

Human Mutation, 2006
Daniel E Porter, Trevor Cole, Carol A Wise   +2 more
exaly  

Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes

Cytoskeleton, 2001
Mark A Bernard, Allison Scott, Michael Lovett   +2 more
exaly  

Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas

Journal of Orthopaedic Research, 2013
Xuesha Xing, Lihua Cao, Qi Liu
exaly  

Genetic analysis of hereditary multiple exostoses in Tunisian families: a novel frame-shift mutation in the EXT1 gene

Molecular Biology Reports, 2008
Sana Sfar, Wijden Mahfoudh, Houyem Ouragini   +2 more
exaly  

Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses

European Journal of Human Genetics, 2000
Carol Dobson-Stone, Carol A Wise, François P Bernier   +2 more
exaly  

Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations

European Journal of Human Genetics, 2004
Stefan J White, Pancras C W Hogendoorn, Martijn H Breuning   +2 more
exaly  

Conditional Ablation of the Heparan Sulfate-synthesizing Enzyme Ext1 Leads to Dysregulation of Bone Morphogenic Protein Signaling and Severe Skeletal Defects

Journal of Biological Chemistry, 2010
Yoshihiro Matsumoto, Kazu Matsumoto, Fumitoshi Irie   +2 more
exaly  

THREE SIBLINGS WITH EXT1-CDG

2011
OKUR, ARZU, SARAÇ, AVNİ, WUYTS, WIM, HUL, ELS VAN, HASANOĞLU, ALEV, KASAPKARA, ÇİĞDEM SEHER, EZGÜ, FATİH SÜHEYL, OKUR, İLYAS, KÜÇÜKÇONGAR, AYNUR, TÜMER, LEYLA   +9 more
openaire   +3 more sources

Ext1 localement analytique et compatibilité local-global

American Journal of Mathematics, 2019
openaire   +1 more source