Search Results - "Silva, Deepthi C."

Exploring the impact of occupational exposure: A study on cardiovascular autonomic functions of male gas station attendants in Sri Lanka by Warnakulasuriya, Tania, Medagoda, Kushan, Kottahachchi, Dulani, Luke, Dunya, Wadasinghe, Dilesha, Rathnayake, Prasanna, Ariyawansa, Janaki, Dissanayake, Tharuka, Sandeepani, Pavani, De Silva, Deepthi C., Devanarayana, Niranga Manjuri

“…Fuel dispensing at fuel stations is performed manually by unprotected male gas station attendants in Sri Lanka, who have long working hours. These workers are…”
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Genome sequencing in families with congenital limb malformations by Elsner, Jonas, Mensah, Martin A., Holtgrewe, Manuel, Hertzberg, Jakob, Bigoni, Stefania, Busche, Andreas, Coutelier, Marie, de Silva, Deepthi C., Elçioglu, Nursel, Filges, Isabel, Gerkes, Erica, Girisha, Katta M., Graul-Neumann, Luitgard, Jamsheer, Aleksander, Krawitz, Peter, Kurth, Ingo, Markus, Susanne, Megarbane, Andre, Reis, André, Reuter, Miriam S., Svoboda, Daniel, Teller, Christopher, Tuysuz, Beyhan, Türkmen, Seval, Wilson, Meredith, Woitschach, Rixa, Vater, Inga, Caliebe, Almuth, Hülsemann, Wiebke, Horn, Denise, Mundlos, Stefan, Spielmann, Malte

“…The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome…”
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Biallelic variants in DNA2 cause microcephalic primordial dwarfism by Tarnauskaitė, Žygimantė, Bicknell, Louise S., Marsh, Joseph A., Murray, Jennie E., Parry, David A., Logan, Clare V., Bober, Michael B., Silva, Deepthi C., Duker, Angela L., Sillence, David, Wise, Carol, Jackson, Andrew P., Murina, Olga, Reijns, Martin A. M.

“…Microcephalic primordial dwarfism (MPD) is a group of rare single‐gene disorders characterized by the extreme reduction in brain and body size from early…”
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum by BANKA, Siddharth, VEERAMACHANENI, Ratna, METCALFE, Kay, CHANDLER, Kate, MAGEE, Alex, STEWART, Fiona, MCCONNELL, Vivienne Pm, DONNELLY, Deirdre E, BERLAND, Siren, HOUGE, Gunnar, MORTON, Jenny E, OLEY, Christine, REARDON, William, REVENCU, Nicole, PARK, Soo-Mi, DAVIES, Sally J, FRY, Andrew E, ANN LYNCH, Sally, GILL, Harinder, SCHWEIGER, Susann, LAM, Wayne Wk, TOLMIE, John, MOHAMMED, Shehla N, HOWARD, Emma, HOBSON, Emma, SMITH, Audrey, BLYTH, Moira, BENNETT, Christopher, VASUDEVAN, Pradeep C, GARCIA-MINAUR, Sixto, HENDERSON, Alex, GOODSHIP, Judith, WRIGHT, Michael J, FISHER, Richard, BUNSTONE, Sancha, GIBBONS, Richard, PRICE, Susan M, DE SILVA, Deepthi C, KAREN TEMPLE, I, COLLINS, Amanda L, LACHLAN, Katherine, ELMSLIE, Frances, MCENTAGART, Meriel, CASTLE, Bruce, CLAYTON-SMITH, Jill, RAGGE, Nicola, BLACK, Graeme C, DONNAI, Dian, PARKER, Michael J, CROW, Yanick J, KERR, Bronwyn, KINGSTON, Helen

“…MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to 45% patients with KS, the genetic basis remains unknown, suggesting…”
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FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly by Simonis, Nicolas, Migeotte, Isabelle, Lambert, Nelle, Perazzolo, Camille, de Silva, Deepthi C, Dimitrov, Boyan, Heinrichs, Claudine, Janssens, Sandra, Kerr, Bronwyn, Mortier, Geert, Van Vliet, Guy, Lepage, Philippe, Casimir, Georges, Abramowicz, Marc, Smits, Guillaume, Vilain, Catheline

“…Harstfield syndrome is the rare and unique association of holoprosencephaly (HPE) and ectrodactyly, with or without cleft lip and palate, and variable…”
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Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome by Ranaweera, Dinali M, Silva, Deepthi C de, Samarasinghe, Duminda, Perera, Shehan, Kugalingam, Nirosha, Samarasinghe, Sumudu R, Madushani, Wadumesthri Y, Jayaweera, Hiran H E, Gunewardene, Siyath, Muneeswaran, Kajan, Gnanam, Vaz S, Chandrasekharan, Naduviladath V

“…Williams Beuren Syndrome (WBS) is a well-recognized and common genetic cause of congenital heart defects, developmental delay, hypercalcemia, and…”
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The adrenal glands and their functions by De Silva, Deepthi C, Wijesiriwardene, Bandula

“…The adrenal glands secrete hormones essential for metabolism, regulation of blood pressure, and sodium and glucose homeostasis. Hypo- or hypersecretion of…”
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Adrenal hypersecretion by Wijesiriwardene, Bandula, De Silva, Deepthi C

“…Hypersecretion from the adrenal glands is associated with hypertension. Causes include Conn syndrome, Cushing syndrome and phaechromocytoma. This article…”
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Adrenal insufficiency by Wijesiriwardene, Bandula, De Silva, Deepthi C

“…Adrenal insufficiency can be due to disease of the adrenal gland itself (primary adrenal deficiency) or of the hypothalamic or pituitary regulation of the…”
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Attitudes toward prenatal diagnosis and termination of pregnancy for genetic disorders among healthcare workers in a selected setting in Sri Lanka by de Silva, Deepthi C., Jayawardana, P., Hapangama, A., Suraweera, E. G. D. N., Ranjani, D., Fernando, S., Karunasena, C., Jinadasa, S.

“…Objectives Assess attitudes toward prenatal diagnosis (PND) and termination of pregnancy (TOP) for Down syndrome (DS), hemophilia, lethal autosomal recessive…”
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Evaluation of 22q11.2 deletion in Cleft Palate patients by Prabodha, L B Lahiru, Dias, Dayanath Kumara, Nanayakkara, B Ganananda, de Silva, Deepthi C, Chandrasekharan, N Vishvanath, Ileyperuma, Isurani

“…Cleft palate is the commonest multifactorial epigenetic disorder with a prevalence of 0.43-2.45 per 1000. The objectives of this study were to evaluate the…”
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Cranial desmoid tumor associated with homozygous inactivation of the adenomatous polyposis coli gene in a 2‐year‐old girl with familial adenomatous polyposis by de Silva, Deepthi C., Wright, Morag F., Stevenson, David A. J., Clark, Caroline, Gray, Elizabeth S., Holmes, John D., Dean, John C. S., Haites, Neva E., Dunlop, Malcolm G.

“…BACKGROUND Familial adenomatous polyposis (FAP) is a dominantly inherited disorder characterized by the presence of more than 100 adenomatous polyps in the…”
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Further delineation of the Verloes-Koulischer-oro-acral Syndrome by de Silva, Deepthi C., Verloes, Alain

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Mulvihill-Smith progeria-like syndrome: A further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities by de Silva, Deepthi C., Wheatley, Denys N., Herriot, Richard, Brown, Thelma, Stevenson, David A. J., Helms, Peter, Dean, John C. S.

“…We report the seventh case of Mulvihill‐Smith progeria‐like syndrome in a 5‐year‐old boy with a thin, pinched face, failure to thrive, and cutaneous pigmented…”
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