Browsing IRSPAS 2017 by Author "Chandrasekharan, N.V."

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Development and evaluation of a cost effective method for the molecular diagnosis of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) in Sri Lanka.

Panchananthan, V.; De Silva, D.; Rathnayake, P.; Atapattu, N.; Chandrasekharan, N.V. (International Research Symposium on Pure and Applied Sciences, 2017 Faculty of Science, University of Kelaniya, Sri Lanka., 2017)

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic disorders caused by imprinting defects on chromosome 15q11-q13. Prader –Willi syndrome is caused by loss of expression of some paternal genes and Angelman ...
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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