E Rossi, A Ciminello, T Za, S Betti… - Thrombosis and …, 2011 - ncbi.nlm.nih.gov The utility of laboratory investigation of relatives of individuals with inherited thrombophilia is uncertain. To assess the risk of venous thromboembolism (VTE) among the carriers, we investigated a family cohort of 1,720 relatives of probands with thrombophilia who were evaluated ...
ER Freilich, JM Jones, WD Gaillard… - Archives of …, 2011 - Am Med Assoc You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better. ... Add to CiteULike Add to Connotea Add to Delicious ... Related articles - All 3 versions
P Eerligh, BPC Koeleman, BA Lie… - Tissue …, 2011 - Wiley Online Library An extreme genetic risk for type 1 diabetes (T1D) was reported for DR3/4-DQ8 siblings sharing both extended human leukocyte antigen (HLA) haplotypes identical-by-descent (IBD) with their diabetic proband. We attempted to replicate this finding in our prospective Dutch T1D ... Related articles - All 3 versions
D Watkins, JA Schwartzentruber, J Ganesh… - Journal of Medical …, 2011 - jmg.bmj.com Results Two mutations were identified in the MTHFD1 gene, which encodes a protein that catalyses three reactions involved in cellular folate metabolism. This protein is essential for the generation of formyltetrahydrofolate and methylenetetrahydrofolate and important for nucleotide and ...
[HTML] from nih.govJ Vos, F Menko, AM Jansen, CJ van Asperen… - Familial cancer, 2011 - Springer Abstract Objective of this paper is to study how DNA- test result information was communicated and perceived within families. A retrospective descriptive study in 13 probands with a BRCA1/2 unclassified variant, 7 with a pathogenic mutation, 5 with an uninformative ... Cited by 3 - Related articles - All 7 versions
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