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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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  • Arterial tortuosity syndrome: 40 new families and literature review 
    Beyens, A.; Albuisson, J.; Boel, A.; Al-Essa, M.; Al-Manea, W.; Bonnet, D.; Bostan, O.; Boute, O.; Busa, T.; Chanham, ,N.; Cil, E.; Couke, P.J.; Cousin, M.A.; Dasouki, M.; Da Backer, J.; De Paepe, A.; de Schepper, S.; de Silva, D.; Devriendt, K.; De Wandele, I.; Deyle, D.R.; Dietz, H.; Dupuis-Giroid, S.; Fontenot, E.; Fischer-Zirnsak, B.; Gezdirici, A.; Ghoumid, J.; Giuliano, F.; Baena, N; Haider, M.Z.; Hardin, J.S.; Jeunemaitre, X.; Klee, E.W.; Kornak, U.; Landecho, M.F.; Legrand, A.; Loeys, B.; Lyonnet, S.; Michael, H.; Moceri, P.; Mohammed, S.; Muino-Mosquera, L.; Nampoothiri, S.; Picher, K.; Prescott, k.; Rajeb, A.; Ramos-Arroyo, M.; Rossi, M.; Salih, M.; Seidahmed, M.Z.; Schaefer, E.; Steichen-Gersdorf, E.; Temel, S.; Uysal, F.; Vanhomwegen, M.; Van Laer, L.; Van Maldergem, L.; Warner, D.; Willaert, A.; Collins, T.R.; Taylor, A.; Davis, E.C.; Zarate, Y.; Callewaert, B. (Nature Publishing Group, 2018)
    PurposeWe delineate the clinical spectrum and describe the histology in arterial tortuosity syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large and medium-sized arteries, caused by ...
  • Arterial tortuosity syndrome: A rare inherited form of connective tissue disorder with SLR2A10 gene mutation 
    Wijesinghe, S.; de Silva, D.; Samarasinghe, D.; Irugalbandara, S. (Sri Lanka College of Paediatricians, 2022)
    No abstract available
  • Attitudes towards genetic counselling and testing among medical students and newly qualified doctors 
    de Silva, D.; Jayasekera, K.M.; Rubasinghe, N.K.; de Silva, D.G.H. (Sri Lanka Medical Association, 1997)
    OBJECTIVES: To determine knowledge about four genetic disorders (Down's syndrome (DS), haemophilia (haem), spinal muscular atrophy type 1 (SMA1) and Huntington's disease (HD)), attitudes towards counselling, acceptability ...
  • Challenges in recruting older twins for the Sri Lankan twin registry 
    Sumathipala, A.; Sribaddana, S.H.; Abeysingha, N.M.; de Silva, N*.; Fernando, D.J.; Dayaratne, D.A.; de Silva, D.; Warnasuriya, N.D.; Hotopf, M. (Australian Academic Press, 2003)
    The National Twin Registry of Sri Lanka was established in 1997 as a volunteer register. To extend it to a population-based register, we examined the effectiveness of tracing older twins by inspecting birth records and ...
  • Characteristic dental pattern with hypodontia and short roots in Fraser Syndrome 
    Kunz, F.; Kayserili, H.; Midro, A.; de Silva, D.; Basnayake, S.; Güven, Y.; Borys, J.; Schanze, D.; Stellzig-Eisenhauer, A.; Bloch-Zupan, A.; Zenker, M. (Wiley-Liss, 2020)
    ABSTRACT:Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. ...
  • Community-based cluster randomised trial of safe storage to reduce pesticide self-poisoning in rural Sri Lanka: study protocol 
    Pearson, M.; Konradsen, F.; Gunnell, D.; Dawson, A.H.; Pieris, R.; Weerasinghe, M.; Knipe, D.W.; Jayamanne, S.; Metcalfe, C.; Hawton, K.; Wickremasinghe, A.R.; Atapattu, W.; Bandara, P.; de Silva, D.; Ranasinghe, A.; Mohamed, F.; Buckley, N.A.; Gawarammana, I.; Eddleston, M.A. (BioMed Central, 2011)
    BACKGROUND: The WHO recognises pesticide poisoning to be the single most important means of suicide globally. Pesticide self-poisoning is a major public health and clinical problem in rural Asia, where it has led to case ...
  • A Comparison of the cytotoxic potential of standardized aqueous and ethanolic extracts of a polyherbal mixture comprised of Nigella sativa (seeds), Hemidesmus indicus (roots) and Smilax glabra (rhizome) 
    Samarakoon, S.R.; Thabrew, I.; Galhena, P.B.; de Silva, D.; Tennekoon, K.H. (Medknow Publications, 2010)
    BACKGROUND: A decoction (hot-water extract) comprised of Nigella sativa (seeds), Hemidesmus indicus (roots), and Smilax glabra (rhizome) has been reported to prevent chemically-induced hepatocarcinogenic changes in rats ...
  • Confirmation of mosaic trisomy 22 in an infant with failure to thrive 
    Dayasiri, K.C.; de Silva, D.; Weerasekara, K. (Sri Lanka College of Paediatricians, 2018)
    No Abstract available
  • Correction:Arterial tortuosity syndrome: 40 new families and literature review 
    Beyens, A.; Albuisson, J.; Boel, A.; Al-Essa, M.; Al-Manea, W.; Bonnet, D.; Bostan, O.; Boute, O.; Busa, T.; Chanham, N.; Cil, E.; Couke, P.J.; Cousin, M.A.; Dasouki, M.; Da Backer, J.; De Paepe, A.; de Schepper, S.; de Silva, D.; Devriendt, K.; De Wandele, I.; Deyle, D.R.; Dietz, H.; Dupuis-Giroid, S.; Fontenot, E.; Fischer-Zirnsak, B.; Gezdirici, A.; Ghoumid, J.; Giuliano, F.; Baena, N.; Haider, M.Z.; Hardin, J.S.; Jeunemaitre, X.; Klee, E.W.; Kornak, U.; Landecho, M.F.; Legrand, A.; Loeys, B.; Lyonnet, S.; Michael, H.; Moceri, P.; Mohammed, S.; Muino-Mosquera, L.; Nampoothiri, S.; Picher, K.; Prescott, K.; Rajeb, A.; Ramos-Arroyo, M.; Rossi, M.; Salih, M.; Seidahmed, M.Z.; Schaefer, E.; Steichen-Gersdorf, E.; Temel, S.; Uysal, F.; Vanhomwegen, M.; Van Laer, L.; Van Maldergem, L.; Warner, D.; Willaert, A.; Collins, T.R.; Taylor, A.; Davis, E.C.; Zarate, Y.; Callewaert, B. (Nature Publishing Group, 2019)
    In the published version of this paper the author Neus Baena's name was incorrectly given as Neus Baena Diez. This has now been corrected in both the HTML and PDF versions of the paper. Erratum for:Arterial tortuosity ...
  • Effectiveness of household lockable pesticide storage to reduce pesticide self-poisoning in rural Asia: a community-based, cluster-randomised controlled trial 
    Pearson, M.; Metcalfe, C.; Jayamanne, S.; Gunnell, D.; Weerasinghe, M.; Pieris, R.; Priyadarshana, C.; Knipe, D.W.; Hawton, K.; Dawson, A.H.; Bandara, P.; de Silva, D.; Gawarammana, I.; Eddleston, M.; Konradsen, F. (London : J. Onwhyn, 2017)
    BACKGROUND: Agricultural pesticide self-poisoning is a major public health problem in rural Asia. The use of safer household pesticidestorage has been promoted to prevent deaths, but there is no evidence of effectiveness. ...
  • Emerging issues in genetic testing in Sri Lanka 
    de Silva, D. (Forum for Medical Ethics Society, 2007)
    No Abstract Available
  • Erythrocyte antioxidant enzymes in patients with cataract 
    Chandrasena, L.G.; Chackrewarthy, S.; Perera, P.T.; de Silva, D. (Institute for Clinical Science., 2006)
    The pathogenesis of cataract has been found to be influenced by a number of factors including oxidative stress. Catalase, glutathione peroxidase (GPX), and superoxide dismutase (SOD) are some of the antioxidant enzymes ...
  • Exploring the genetic basis of 3MC syndrome: Findings in 12 further families: 
    Urquhart, J.; Roberts, R.; de Silva, D.; Shalev, S.; Chervinsky, E.; Nampoothiri, S.; Sznajer, Y.; Revencu, N.; Gunasekera, R.; Suri, M.; Ellingford, J.; Williams, S.; Bhaskar, S.; Clayton-Smith, J. (Wiley-Blackwell, 2016)
    The 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, hypertelorism, highly arched eyebrows, caudal appendage, postnatal growth deficiency, and ...
  • Genetic testing for single gene disorders 
    de Silva, D. (Sri Lanka Medical Association, 2004)
    Genetic testing for single gene disorders is becoming available in Sri Lanka. While it offers many benefits, there are concerns about psychological and social problems that can be a consequence of such tests. This article ...
  • Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2 
    Bornholdt, D.; Atkinson, T.P.; Bouadjar, B.; Catteau, B.; Cox, H.; de Silva, D.; Fischer, J.; Gunasekera, C.N.; Hadj-Rabia, S.; Happle, R.; Holder-Espinasse, M.; Kaminski, E.; Konig, A.; Megarbane, A.; Megarbane, H.; Neidel, U.; Oeffner, F.; Oji, V.; Theos, A.; Traupe, H.; Vahlquist, A.; van Bon, B.W.; Virtanen, M.; Grzeschik, K.H. (Wiley, 2013)
    Missense mutations affecting membrane-bound transcription factor protease site 2 (MBTPS2) have been associated with Ichthyosis Follicularis with Atrichia and Photophobia (IFAP) syndrome with or without BRESHECK syndrome, ...
  • Geo-helminth infections in a rural area of Sri Lanka 
    Fernando, S.D.; Goonethilleke, H.; Weerasena, K.H.; Kuruppuarachchi, N.D.; Tilakaratne, D.; de Silva, D.; Wickremasinghe, A.R. (SEAMEO Regional Tropical Medicine and Public Health Project, 2001)
    School children carry the heaviest burden of morbidity due to intestinal helminth infection. The objective of this investigation was to study geo-helminth infections in 349 school children aged 6 to 13 years living in a ...
  • Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features 
    de Silva, D.; Williamson, K.A.; Dayasiri, K.C.; Suraweera, N.; Quinters, V.; Abeysekara, H.; Wanigasinghe, J.; de Silva, D.; de Silva, H. (BioMed Central, 2018)
    BACKGROUND: Gillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and ...
  • Hartsfield holoprosencephaly-ectrodactyly syndrome in five male patients: further delineation and review 
    Vilain, C.; Mortier, G.; Van, G. V.; Dubourg, C.; Heinrichs, C.; de Silva, D.; Verloes, C. B. (Wiley-Blackwell, 2009)
    We report on five male subjects with a triad of signs compatible with Hartsfield syndrome: ectrodactyly, holoprosencephaly, and mental retardation. Only six patients with this distinctive association have been reported ...
  • Human resources for health in Sri Lanka over the post-independence period: key issues 
    de Silva, D.; Chandratilake, M.; de Silva, N. (Sri Lanka Medical Association, 2023)
    No abstract available
  • The impact of repeated malaria attacks on the school performance of children 
    Fernando, S.D.; Gunawardena, D.M.; Bandara, M.R.; de Silva, D.; Carter, R.; Mendis, K.N.; Wickremasinghe, A.R. (American Society of Tropical Medicine and Hygiene, 2003)
    The impact of repeated malarial infections on the school performance of children was investigated in 571 school children 6-14 years of age in a malaria-endemic area in southern Sri Lanka where both Plasmodium falciparum ...

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