The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

Molecular confirmation of carriers for Lowe syndrome.

OBJECTIVE: To determine the sensitivity and specificity of ocular examination for the carrier state of Lowe syndrome in females known to be either carriers or noncarriers by direct DNA diagnosis. DESIGN: Nonrandomized cohort study. PARTICIPANTS: Thirty-one females at risk for carrying Lowe syndrome in 3 families. METHODS: Slit-lamp biomicroscopy after pupillary dilation was performed by a single observer ( RAL) who was masked as to carrier status as determined by allele-specific detection of mutations in genomic DNA. RESULTS: Carrier assessment predetermined by slit-lamp biomicroscopic examination yielded only one false-negative in a young girl 5 years of age and no false-positives among 31 female members examined. CONCLUSIONS: Slit-lamp examination is a highly accurate and sensitive test for carrier detection in Lowe syndrome, particularly in women of reproductive age.[1]

References

  1. Molecular confirmation of carriers for Lowe syndrome. Lin, T., Lewis, R.A., Nussbaum, R.L. Ophthalmology (1999) [Pubmed]
 
WikiGenes - Universities