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Browsing Journal/Magazine Articles by Author "de Silva, D."

Browsing Journal/Magazine Articles by Author "de Silva, D."

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  • Meckel Gruber syndrome: a single gene cause of recurrent neural tube defects 
    de Silva, D.; Suriyawansa, D.; Mangalika, M.; Samarasinghe, D. (Sri Lanka Medical Association, 2001)
    Meckel Gruber syndrome (MGS), an autosomal recessive disorder characterised by posterior encephalocoele, multicystic kidneys and post-axial polydactyly should be recognised by obstetricians and paediatricians to counsel ...
  • Mutations in ANTXR1 cause GAPO syndrome 
    Stránecký, V.; Hoischen, A.; Hartmannová, H.; Zaki, M.S.; Chaudhary, A.; Zudaire, E.; Nosková, L.; Barešová, V.; Přistoupilová, A.; Hodaňová, K.; Sovová, J.; Hůlková, H.; Piherová, L.; Hehir-Kwa, J.Y.; de Silva, D.; Senanayake, M.P.; Farrag, S.; Zeman, J.; Martásek, P.; Baxová, A.; Afifi, H.H.; St Croix, B.; Brunner, H.G.; Temtamy, S.; Kmoch, S. (University of Chicago Press, 2013)
    The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated ...
  • Mutations in CDC45, encoding an essential component of the Pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis 
    Fenwick, A.L.; Kliszczak, M.; Cooper, F.; Murray, J.; Sanchez-Pulido, L.; Twigg, S.R.; Goriely, A.; McGowan, S.J.; Miller, K.A.; Taylor, I.B.; Logan, C.; Bozdogan, S.; Danda, S.; Dixon, J.; Elsayed, S.M.; Elsobky, E.; Gardham, A.; Hoffer, M.J.; Koopmans, M.; McDonald-McGinn, D.M.; Santen, G.W.; Savarirayan, R.; de Silva, D.; Vanakker, O.; Wall, S.A.; Wilson, L.C.; Yuregir, O.O.; Zackai, E.H.; Ponting, C.P.; Jackson, A.P.; Wilkie, A.; Niedzwiedz, W.; Bicknell, L.S. (University of Chicago Press, 2016)
    DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin ...
  • Nail-patella syndrome: Clinical importance of diagnosis 
    Kaleel, F.; Gunasekera, R.; de Silva, D. (Sri Lanka College of Paediatricians, 2021)
    No abstract available
  • Noncoding copy-number variations are associated with congenital limb malformation 
    Flöttmann, R.; Kragesteen, B.K.; Geuer, S.; Socha, M.; Allou, L.; Sowińska-Seidler, A.; Bosquillon de Jarcy, L.; Wagner, J.; Jamsheer, A.; Oehl-Jaschkowitz, B.; Wittler, L.; de Silva, D.; Kurth, I.; Maya, I.; Santos-Simarro, F.; Hülsemann, W.; Klopocki, E.; Mountford, R.; Fryer, A.; Borck, G.; Horn, D.; Lapunzina, P.; Wilson, M.; Mascrez, B.; Duboule, D.; Mundlos, S.; Spielmann, M. (Nature Publishing Group, 2018)
    PurposeCopy-number variants (CNVs) are generally interpreted by linking the effects of gene dosage with phenotypes. The clinical interpretation of noncoding CNVs remains challenging. We investigated the percentage of ...
  • A Randomized, double-blind, placebo-controlled, clinical trial of the impact of malaria prevention on the educational attainment of school children 
    Fernando, D.; de Silva, D.; Carter, R.; Mendis, K. N.; Wickremasinghe, R. (American Society of Tropical Medicine and Hygiene, 2006)
    A double-blind, placebo-controlled trial of nine months duration was carried out to investigate the impact of malaria and its prevention on theeducational attainment of school children in a malaria-endemic area in southern ...
  • RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR) 
    Kugalingam, N.; de Silva, D.; Abeysekera, H.; Nanayakkara, S.; Tirimanne, S.; Ranaweera, D.; Suravajhala, P.; Chandrasekharan, V. (BioMed Central, 2023)
    BACKGROUND: Retinoblastoma (RB) a tumour affecting those under 5 years, has a prevalence of 1 in 20,000, with around twenty new diagnoses per year in Sri Lanka. Unilateral and bilateral RB presents around 24 and 15 months ...
  • Short-term impact of an acute attack of malaria on the cognitive performance of school children living in a malaria-endemic area of Sri Lanka 
    Fernando, D.; de Silva, D.; Wickremasinghe, R. (Oxford University Press, 2003)
    A prospective study was conducted from January 1998 to November 1999 in a malaria-endemic area of Sri Lanka to determine the short-term impact of an acute attack of malaria on the cognitive performance of 648 schoolchildren ...
  • Sri lankan Twin Registry 
    Sumathipala, A.; Sribaddana, S. H.; de Silva, N**.; Fernando, D.; Abeysingha, N.M.; Dayaratne, R.; de Silva, D.; Warnasuriya, N. D.; Hotopf, M. (Australian Academic Press, 2002)
    Sri Lanka is an island with genetic diversity between the five main population groups. Our twin registry is the first in the developing world. Initially, we established a volunteer cohort of 4600 twin pairs through a ...

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