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In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband.

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 ...

Novel SCN1A Mutation in a Proband With Malignant Migrating Partial Seizures of Infancy

ER Freilich, JM Jones, WD Gaillard… - Archives of …, 2011 - Am Med Assoc
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No extreme genetic risk for type 1 diabetes among DR3/4‐DQ8 siblings sharing both extended HLA haplotypes with their diabetic proband

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 ...
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Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

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 ...

… -game perspective on the family communication of DNA-test results: a retrospective study on the communication process of BRCA1/2-test results between proband …

[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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