Search Results - "Rao, Vadlamudi R"
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Midfacial Toddler Excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism
Published in British journal of dermatology (1951) (14-08-2024)“…PRDM12 polyalanine tract expansions cause two different disorders; Midfacial Toddler Excoriation Syndrome (MiTES) - itch with normal pain sensation associated…”
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Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients
Published in Journal of human genetics (01-09-2015)“…Little information is available regarding the molecular pathogenesis of Parkinson's disease (PD) among the Bengalee population in West Bengal, India. This…”
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Identification and Development of a High-Risk District Model in the Prevention of β-Thalassemia in Telangana State, India
Published in Hemoglobin (02-09-2020)“…The burden of β-thalassemia (β-thal) is largely underestimated in India with a carrier frequency of 3.0-4.0% in general, whereas highly stratified frequencies…”
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A novel polymorphism in codon 25 of the KRAS gene associated with gallbladder carcinoma patients of the eastern part of India
Published in Genetic testing and molecular biomarkers (01-06-2011)“…Gallbladder cancer (GBC) is more prevalent than other cancers in North India. The asymptomatic nature of the disease is a problem in the diagnosis and…”
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Burden among Parkinson's disease care givers for a community based study from India
Published in Journal of the neurological sciences (15-11-2015)“…Abstract Aim was to analyze predictors of burden among primary caregivers (CGs) of Indian Parkinson's disease (PD) patients. 150 PD patients were administered…”
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Epidemiology of cardiomyopathy - A clinical and genetic study of dilated cardiomyopathy: The EPOCH-D study
Published in Journal of the practice of cardiovascular sciences (01-01-2015)“…Background: Dilated Cardiomyopathy (DCM) is a genetic disorder where a heterogeneous group of cardiac-muscles are involved and is characterized by ventricular…”
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D190Y mutation in C-terminal tail region of TNNI3 gene causing severe form of restrictive cardiomyopathy with mild hypertrophy in an Indian patient
Published in Meta Gene (01-12-2020)“…Restrictive cardiomyopathy (RCM) is a rare condition with stiffening of the heart. Cardiac Troponin I gene is the most common causation of RCM constituting…”
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8
Identification and Development of a High-Risk District Model in the Prevention of β-Thalassemia in Telangana State, India
Published in Hemoglobin (02-09-2020)“…The burden of β-thalassemia (β-thal) is largely underestimated in India with a carrier frequency of 3.0-4.0% in general, whereas highly stratified frequencies…”
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