WordNet

an impairment of health or a condition of abnormal functioning
caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
English novelist (born in Poland) noted for sea stories and for his narrative technique (1857-1924) (同)Joseph Conrad, Teodor Josef Konrad Korzeniowski

PrepTutorEJDIC

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

Identification of a novel missense mutation of PEX7 gene in an Iranian patient with rhizomelic chondrodysplasia punctata type 1.

Mohamadynejad P, Ghaedi K, Shafeghati Y, Salamian A, Tanhaie S, Karamali F, Rabiee F, Parivar K, Baharvand H, Nasr-Esfahani MH.SourceBiology Department, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Gene.Gene.2013 Apr 15;518(2):461-6. doi: 10.1016/j.gene.2013.01.022. Epub 2013 Jan 26.
Deficiency in the PTS2 protein import pathway due to mutations in PEX7 gene results in the rhizomelic chondrodysplasia punctata (RCDP) type 1. In the present study, we have reported a novel missense mutation, W75R, in the PEX7 gene in an Iranian patient with the RCDP type 1. The inability of PEX7 pr
PMID 23357221

Conradi LC, Styczen H, Sprenger T, Wolff HA, Rödel C, Nietert M, Homayounfar K, Gaedcke J, Kitz J, Talaulicar R, Becker H, Ghadimi M, Middel P, Beissbarth T, Rüschoff J, Liersch T.SourceDepartments of *General and Visceral Surgery †Radiooncology §Medical Statistics ∥Institute for Pathology, University Medical Center, Göttingen ‡Department of Radiotherapy and Oncology, University of Frankfurt, Frankfurt, Germany.
The American journal of surgical pathology.Am J Surg Pathol.2013 Apr;37(4):522-31. doi: 10.1097/PAS.0b013e318272ff4d.
In patients with advanced rectal cancer (cUICC II and III) multimodality therapy resulted in better long-term local tumor control. Ongoing clinical trials are focusing on therapy intensification to improve disease-free (DFS) and cancer-specific survival (CSS), the integration of biomarkers for predi
PMID 23282976

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

Matos-Miranda C, Nimmo G, Williams B, Tysoe C, Owens M, Bale S, Braverman N.SourceDepartment of Human Genetics, Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada.
Genetics in medicine : official journal of the American College of Medical Genetics.Genet Med.2013 Mar 7. doi: 10.1038/gim.2013.13. [Epub ahead of print]
Purpose:The only known genetic cause of brachytelephalangic chondrodysplasia punctata is X-linked chondrodysplasia punctata 1 (CDPX1), which results from a deficiency of arylsulfatase E (ARSE). Historically, ARSE mutations have been identified in only 50% of male patients, and it was proposed that t
PMID 23470839

Detection of Relevant Coronary Artery Disease Using Dual-Source Computed Tomography in a High Probability Patient Series : Comparison With Invasive Angiography(Imaging)

Rixe Johannes,Rolf Andreas,Conradi Guido,Moellmann Helge,Nef Holger,Neumann Thomas,Steiger Holger,Hamm Christian W,Dill Thorsten
Circulation journal : official journal of the Japanese Circulation Society 73(2), 316-322, 2009-01-20
… The accuracy of dual-source CT (DSCT) for the detection of coronary artery disease (CAD) was assessed in 76 patients at high probability of CAD without heart rate control and compared with quantitative coronary angiography (QCA). …
NAID 110007042173