- An intergenerational contraction of a fully penetrant Huntington disease allele to a reduced penetrance allele: interpretation of results and significance for risk assessment and genetic counselingFatimah Nahhas
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory, Detroit, Michigan 48210, USA
Am J Med Genet A 149:732-6. 2009..Discussion of these results with this patient presented challenges in providing appropriate risk assessment for developing the disease herself as well as the future risk to her offspring...
- Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratoryFatimah A Nahhas
University Laboratories Molecular Genetics Diagnostic Laboratory, Detroit Medical Center, Detroit, Michigan 48201, USA
Genet Test Mol Biomarkers 16:187-92. 2012..This type of assay may also be utilized for other nucleotide expansion disorders...