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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 ...
Apert’s syndrome: study by whole exome sequencing
(Elsevier, 2017)
In the present study we attempted a parent-child trio, whole exome sequencing (WES) approach to study Apert’s syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System ...
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 ...
Genetic Understanding of Stroke Treatment: Potential Role for Phosphodiesterase Inhibitors
(Springer New York LLC, 2017)
Phosphodiesterase (PDE) gene family is a large family having at least 21 genes and multiple versions (isoforms) of the phosphodiesterase enzymes. These enzymes catalyze the inactivation of intracellular mediators of signal ...
GSTM1 and GSTT1 null polymorphism and antioxidant levels in oral submucous fibrosis, leukoplakia and oral cancer patients among a South Indian Population
(Elsevier Ltd, 2018)
Objective: We investigated the null polymorphism in GSTM1 and GSTT1 genes and the antioxidant levels in oral submucous fibrosis (OSMF), leukoplakia and oral cancer patients along with healthy controls in a South Indian ...
Interleukin 1ß (+3954, -511 and -31) polymorphism in chronic periodontitis patients from North India
(Informa Healthcare, 2015)
Objective. Several studies have implicated the role of interleukin-1 in various chronic diseases including periodontitis. The present study was carried out with an aim to evaluate the role of interleukin 1? polymorphisms, ...
Research advances in Apert syndrome
(Elsevier B.V., 2018)
Apert syndrome is one of the several genetic syndromes associated with craniosynostosis, a condition that includes premature fusion of one or multiple cranial sutures. There has been significant clinical variation among ...
Role of TLR4 (C1196T) and CD14 (C-260T) Polymorphisms in Development of Ischemic Stroke, Its Subtypes and Hemorrhagic Stroke
(Springer New York LLC, 2017)
In the present study, we evaluated the association of TLR4 and CD14 polymorphisms, i.e. C1196T and C-260T, respectively, with ischemic stroke (n?=?700), its subtypes and hemorrhagic stroke (n?=?300) in a South Indian ...
Association of ACE gene I/D polymorphism and ACE levels with hemorrhagic stroke: comparison with ischemic stroke
(Springer-Verlag Italia s.r.l., 2015)
In the present study, we investigated the association of insertion/deletion polymorphism of ACE gene with genetic predisposition to hemorrhagic stroke and also determined the mean ACE activity levels in ischemic and ...
Association of -1382A>G CCL11 gene variant with ischemic stroke, its subtypes and hemorrhagic stroke in a South Indian population
(Medknow Publications, 2014)
Conclusion: The results of the present study show that the GG genotype is a significant risk factor for ischemic as well as hemorrhagic stroke. Further, the frequency of the GG genotype was observed to be higher in hemorrhagic ...