نتایج جستجو برای: enchondromatosis

تعداد نتایج: 175  

2015
Kenan Koca Serkan Akpancar Cemil Yıldız

Objectives. The aim of the study was to investigate the results of patients with isolated length discrepancy between ulna and radius who underwent distraction osteogenesis with unilateral external fixator. Material and Methods. A patient with ulna shortening due to multiple enchondromatosis, a patient with ulna shortening due to ulnar club hand, and a patient with radial shortening due to radia...

2015
S. S. Madan K. Robinson P. D. Kasliwal M. J. Bell M. Saleh J. A. Fernandes

We present our experience of lengthening and correction of complex deformities in the management of patients with Ollier's dysplasia (multiple enchondromatosis) from 1985 and 2002. All patients were under 18 years with a minimum follow-up time of 2 years (mean 9.6 years, range 2-15 years). There were a total of ten patients of which seven were male and three female. The mean age at presentation...

Journal: :Iranian journal of pathology 2015
Shahram Sabeti Forough Yousefi Mihan Pourabdollah Toutkaboni

Ollier’s syndrome, a variant of multiple enchondromatosis, is a rare disease with an estimated prevalence of 1/100,000, characterized by multiple enchondromas, asymmetrically involving small bones of the hands and feet, especially the proximal phalanges.Intracranial enchondromas, such as those arising from the skull base are extremely rare.Herein, we report a 25-year-old female, known case of O...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2015
Makoto Hirata Masato Sasaki Rob A Cairns Satoshi Inoue Vijitha Puviindran Wanda Y Li Bryan E Snow Lisa D Jones Qingxia Wei Shingo Sato Yuning J Tang Puviindran Nadesan Jason Rockel Heather Whetstone Raymond Poon Angela Weng Stefan Gross Kimberly Straley Camelia Gliser Yingxia Xu Jay Wunder Tak W Mak Benjamin A Alman

Enchondromas are benign cartilage tumors and precursors to malignant chondrosarcomas. Somatic mutations in the isocitrate dehydrogenase genes (IDH1 and IDH2) are present in the majority of these tumor types. How these mutations cause enchondromas is unclear. Here, we identified the spectrum of IDH mutations in human enchondromas and chondrosarcomas and studied their effects in mice. A broad ran...

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