نتایج جستجو برای: camurati

تعداد نتایج: 226  

2016
Yong Chen Wanqin Xie Feng Hu Jia Chen Hexin Zheng Haiyan Zhou Bin Ni Wanmeng Li Jianda Zhou

Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). The present study aimed to identify a Chinese family with suspected CED based on the clinical symptoms, including pain in extremities, waddling gait, muscle weakness, cortical thickening of the diaphysis of the long bones, and sclerosis of the skull, facial ...

Journal: :Molecular medicine reports 2013
Chun Wang Bao-Hong Zhang Yu-Juan Liu Yun-Qiu Hu Jin-Wei He Zhen-Lin Zhang

The aim of the present study was to investigate the clinical characteristics and major causative gene in pediatric patients with Camurati‑Engelmann disease (CED). Biochemical and radiographic examinations, bone scintigraphy and genetic analyses were performed in two affected males and their parents. The two patients experienced waddling gait, muscular weakness and growth developmental delay. X-...

Journal: :Journal of Autism and Developmental Disorders 2008
Chantal Kemner Lizet van Ewijk Herman van Engeland Ignace Hooge

Subjects with PDD excel on certain visuo-spatial tasks, amongst which visual search tasks, and this has been attributed to enhanced perceptual discrimination. However, an alternative explanation is that subjects with PDD show a different, more effective search strategy. The present study aimed to test both hypotheses, by measuring eye movements during visual search tasks in high functioning adu...

Journal: :Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2012
Bruce J Hillman

In their article published in this issue of The Journal of Nuclear Medicine (1), Hillner and coauthors once again emerge from the trove of data that is the National Oncologic PET Registry (NOPR) with valuable insights. This time, the investigators turned their attention to 7 cancers, plus a hodgepodge of rare tumors, for which Medicare still does not cover the use of PET for restaging or suspec...

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