Results 71 to 80 of about 4,149 (173)
Cervical Myelopathy Due to an Osteochondroma in Multiple Hereditary Exostosis
Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.Hereditary multiple exostosis is a rare genetic condition characterized by the development of multiple exostoses. Vertebral localization is rare, less than 7%. Spinal cord compression in hereditary multiple exostosis is a rare condition. We report the case of a 22‐year‐old man with cervical spinal cord compression due to an osteochondroma with ...
Géraud Garcia Segbedji +4 more
wiley +1 more source
Mutation Screening of the EXT1 and EXT2 Genes in Patients with Hereditary Multiple Exostoses
The American Journal of Human Genetics, 1997 Hereditary multiple exostoses (HME), the most frequent of all skeletal dysplasias, is an autosomal dominant disorder characterized by the presence of multiple exostoses localized mainly at the end of long bones. HME is genetically heterogeneous, with at least three loci, on 8q24.1 (EXT1), 11p11-p13 (EXT2), and 19p (EXT3).
Philippe, Christophe +6 more
openaire +2 more sources
Open-array analysis of genetic variants in Egyptian patients with type 2 diabetes and obesity
Egyptian Journal of Medical Human Genetics, 2017 Background: Diabetes mellitus is considered a major public health problem worldwide. Susceptibility to diabetes is influenced by both genetic and environmental determinants.
Hanaa R.M. Attia +6 more
doaj +1 more source
Oncology Letters, 2015 Multiple osteochondroma (MO), also known as multiple hereditary exostoses, is an autosomal dominant skeletal disorder with characteristic multiple cartilage-capped tumours (osteochondromas or exostoses) growing outward from the metaphyseal region of the long tubular bones.
XIA, PENG +3 more
openaire +3 more sources
EFFICIENCY ANALYSIS OF HASHING METHODS FOR FILE SYSTEMS IN USER MODE [PDF]
Научно-технический вестник информационных технологий, механики и оптики, 2013 The article deals with characteristics and performance of interaction protocols between virtual file system and file system, their influence on processing power of microkernel operating systems. User mode implementation of ext2 file system for MINIX 3 OS
E. Y. Ivanov, M. S. Kosyakov
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Cell Reports, 2015 Collective cell migration is a highly regulated morphogenetic movement during embryonic development and cancer invasion that involves the precise orchestration and integration of cell-autonomous mechanisms and environmental signals.
Marina Venero Galanternik +2 more
doaj +1 more source
The dark side of categorical Banach space theory
Extracta MathematicaeThis paper could be considered the third in the series The Hitchhiker Guide to Categorical Banach Space Theory [24, 25]. We explore (quasi) Banach space formulations and applications for advanced categorical topics, such as relative homology (with ...
Jesús Castillo
doaj +1 more source
DiseasesIntroduction: Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood.
Corneliu Toader +5 more
doaj +1 more source
Zhongshan Daxue xuebao. Yixue kexue ban, 2011 【目的】研究EXT1与EXT2基因在我国南方正常人及致病性突变已明确的遗传性多发性骨软骨瘤病人中的多态性。【方法】 选取50例中国南方健康汉族个体及13例致病突变已明确的遗传性多发性骨软骨瘤病人，提取基因组DNA，对包含5’UTR区、编码区、外显子-内含子交界区及3’UTR区的PCR产物进行直接测序。 鉴定基因内的遗传变异，并将结果和国际数据库中的数据进行对比。【结果】 在所有研究对象中共发现15个不同的EXT1基因的单核苷酸多态性(SNPs)：3个在编码区，为同义突变，11个在内含子区，1个在3 ...
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