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Primordial dwarfism: overview of clinical and genetic aspects
(Springer Verlag, 2016)
Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver?Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier?Gorlin Syndrome. This genetic disorder ...
Mutational Analysis in Gaucher Disease: Implications in Genetic Counseling and Management
(SciTechnol, 2016)
Gaucher disease (GD) is the most common LSD worldwide. The disease is caused due to mutations in β-glucocerobrosidase (GBA) gene located on chromosome 1. The mutations results in the deficient activity of acid β-glucosidase ...
Association of APOE (E2, E3 and E4) gene variants and lipid levels in ischemic stroke, its subtypes and hemorrhagic stroke in a South Indian population
(Elsevier Ireland Ltd, 2016)
In the present study we evaluated the association of APOE (E2/E3/E4) polymorphism with ischemic stroke (n = 620), its subtypes and hemorrhagic stroke (n = 250) in a South Indian population from Telangana. The genotypes ...
Association between PDE4D gene and ischemic stroke: recent advancements
(Taylor and Francis Ltd, 2016)
Stroke is a severe complication and a leading cause of death worldwide and genetic studies among different ethnicities has provided the basis for involvement of phosphodiesterase 4D (PDE4D) gene in cerebrovascular diseases. ...
Association of BCL11A genetic variant (Rs11886868) with severityin β-thalassaemia major & sickle cell anaemia
(Indian Council of Medical Research, 2016)
Background & objectives: The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including ?-thalassaemia major and sickle cell anaemia (SCA). The present study was ...