Analysis of type I and type III collagen synthesized by cultured chorionic villus cells is used for prenatal diagnosis of these disorders.doi:10.1177/000992289002901214Daniel H. CohnPeter H. ByersClinics in PerinatologyCohn D H, Byers P H 1990 Clinical screening for collagen defects in connective ...
Connective Tissue disorders Cardiovascular conditions Other clinical assessments on request Social work services Social work services Clinical assessmentS and diagnosis Available prior or following the diagnosis of a genetic condition for yourself or your child: ...
(PM), mixed connective tissue disease (MCTD); organ transplantation; various disorders, including Kawasaki disease (KD), huremic emolytic syndrome (HUS), heparin-induced thrombocytopenia (HIT), multiple sclerosis, acute pre-eclampsia, chronic asthma, type I diabetes, inflammatory bowel disease, ...
Westhovens2 , A. Nkodila3 , J. J. Malemba1 and K. de Vlam2* Abstract Objective To develop and validate a screening tool to identify patients with a high likelihood for Spondyloarthritis (SpA) in the Democratic Republic of the ...
(dilated aorta and regurgitation of blood through heart valves),abnormalities of the eyes(dislocated lens and myopia),musculoskeletal disorders (spinal curvature and a depressed sternum),tall stature,abnormally long and slender fingers and toes,and hyperextensible joints.Commonly,however,patients with ...
The zinc transporter SLC39A13/ ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One 2008; 3: e3642. 113 Giunta C, Elc¸ioglu NH, Albrecht B et al. Spondylocheiro dysplastic form of the Ehlers–Danlos syndrome—an autosomal-...
High-resolution melting (HRM) analysis has been shown to be a time-saving method for the screening of genetic variants. To increase the precision of the diagnosis of osteogenesis imperfecta (OI), we used HRM to explore COL1A1/COL1A2 mutations in 87 Chinese OI patients and to perform populat...
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A total of 9642 patients admitted for cancer and 8826 patients admitted for nonmalignant disorders were available for study. Cases We included as cases all interviewed patients aged 40 to 69 years with a primary cancer of a site for which there were at least 20 patients, whose cancer was ...
1. A method for identifying a human subject as having a bladder neoplasia, the method comprising: a) obtaining DNA from a first bladder tissue sample from said human subject, b) performing bisulfite modification to the DNA in a); c) performing quantitative real-time methylation specific PCR (...