Browsing by Author "Panchananthan, N."

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Deletion analysis of the RB1 gene in retinoblastoma patients in Sri Lanka

Panchananthan, N.; De Silva, D.; Abeysekera, H.; Nanayakara, D.P.S.; Tirimanne, T.L.S.; Chandrasekharan, N.V. (Faculty of Science, University of Kelaniya, Sri Lanka, 2020)

Retinoblastoma (RB), a tumour, affecting children aged less than 5 years has a prevalence of 1 in 20,000 with twenty cases/ year predicted in Sri Lanka. Unilateral RB (60%) presents on average at 24 months and bilateral ...
Molecular diagnosis of Williams syndrome using quantitative polymerase chain reaction (qPCR) in a cohort of Sri Lankan patients.

Ranaweera, D.M.; De Silva, D.; Panchananthan, N.; Samarasinghe, D.; Perera, S.; Morawakkorala, R.; Gunewardene, S.; Chandrasekharan, N.V. (International Research Symposium on Pure and Applied Sciences, 2017 Faculty of Science, University of Kelaniya, Sri Lanka., 2017)

Williams Beuren Syndrome (WBS) is a genetic cause of congenital heart defects associated with developmental delay, hypercalcaemia and characteristic facial features. Its cause is a 1.5 to 1.8 Mb hemizygous deletion of ...

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