A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.

Autor: Sirisena ND; Human Genetics Unit, Department of Anatomy, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka. nirmala@anat.cmb.ac.lk., Samaranayake UMJE; Human Genetics Unit, Department of Anatomy, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka., Neto OLA; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, National Institutes of Health, Bethesda, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, National Institutes of Health, Bethesda, USA., Pathirana BAPS; Human Genetics Unit, Department of Anatomy, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka., Neththikumara N; Human Genetics Unit, Department of Anatomy, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka., Paththinige CS; Human Genetics Unit, Department of Anatomy, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka.; Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Saliyapura, Anuradhapura, 50008, Sri Lanka., Rathnayake P; Lady Ridgeway Hospital for Children, Colombo 8, Sri Lanka., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, National Institutes of Health, Bethesda, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, NINDS, National Institutes of Health, Bethesda, USA., Dissanayake VHW; Human Genetics Unit, Department of Anatomy, Faculty of Medicine, University of Colombo, Colombo 8, Sri Lanka.

Publikováno v: BMC neurology [BMC Neurol] 2021 Mar 09; Vol. 21 (1), pp. 105. Date of Electronic Publication: 2021 Mar 09.

Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome.

Autor: Hettiarachchi D; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. dineshani@anat.cmb.ac.lk.; Department of Anatomy and Human Genetics, Faculty of Medicine, University of Colombo, No. 25, Kynsey Road, Colombo, 00800, Sri Lanka. dineshani@anat.cmb.ac.lk., Neththikumara NF; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Pathirana BAPS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Publikováno v: Journal of autism and developmental disorders [J Autism Dev Disord] 2020 Jan; Vol. 50 (1), pp. 118-126.

A Novel Mutation in the EIF2B4 Gene Associated with Leukoencephalopathy with Vanishing White Matter.

Autor: Hettiaracchchi D; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Neththikumara N; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Pathirana BAPS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka., Padeniya A; National Hospital of Sri Lanka, Colombo, Sri Lanka., Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.

Publikováno v: Case reports in pediatrics [Case Rep Pediatr] 2018 Jul 05; Vol. 2018, pp. 2731039. Date of Electronic Publication: 2018 Jul 05 (Print Publication: 2018).