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Search: authors:"Vajira H. W. Dissanayake"

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Relative normalized luciferase activity for the recombinant vector constructs carrying the ancestral and variant alleles for XRCC2:rs3218550 and PHB:rs6917

ObjectiveThe data presented herein represents the preliminary results of the functional assays of a recently conducted larger study in which two single nucleotide polymorphisms (SNPs) [XRCC2:rs3218550 and PHB:rs6917] were significantly associated with risk of breast cancer among Sri Lankan postmenopausal women. The rs3218550 T allele and rs6917 A allele were found to increase...

The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report

Chandimal Dayasiri 1 Andrea G. Cogal 4 John C. Lieske 4 Manoji Prabashini Gamage 3 Vajira H. W. Dissanayake 2 0 Department of Paediatrics, Faculty of Medicine, University of Colombo , Kynsey Road, Colombo 8

17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki–Lupski syndrome

Background Potocki–Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism, moderate to mild cognitive impairment and behavioural abnormalities including autism spectrum disorders. Case presentation We describe a patient from Sri Lanka that was referred for genetic assessment at 4 years of age due to subtle facial...

Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung...