Published in J Hum Genet on August 12, 2005
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. Am J Hum Genet (2008) 2.84
Animal models of arrhythmogenic cardiomyopathy. Dis Model Mech (2009) 0.95
Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseases. Cell Tissue Res (2012) 0.88
Finding cardiovascular disease genes in the dog. J Vet Cardiol (2006) 0.86
Clinical picture of arrhythmogenic right ventricular dysplasia / cardiomyopathy patients from Indian origin. Indian Pacing Electrophysiol J (2009) 0.79
Tissue-resident Sca1+ PDGFRα+ mesenchymal progenitors are the cellular source of fibrofatty infiltration in arrhythmogenic cardiomyopathy. F1000Res (2013) 0.78
Comparison of Uhl's anomaly, right ventricular outflow tract ventricular tachycardia (RVOT VT) & arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) with an insight into genetics of ARVD/C. Indian J Med Res (2010) 1.06
Submitral left ventricular pseudoaneurysm after mitral valve replacement: early diagnosis and successful repair. Interact Cardiovasc Thorac Surg (2007) 1.05
Molecular genetics of familial hypertrophic cardiomyopathy (FHC). J Hum Genet (2003) 1.04
Mitochondrial DNA haplogroup 'R' is associated with Noonan syndrome of south India. Mitochondrion (2009) 0.93
Role of IL-10 -819(t/c) promoter polymorphism in preeclampsia. Inflammation (2014) 0.92
Genes governing premature ovarian failure. Reprod Biomed Online (2010) 0.91
Evaluation of Interleukin-10 (G-1082A) Promoter Polymorphism in Preeclampsia. J Reprod Infertil (2013) 0.88
The genetic bases of uterine fibroids; a review. J Reprod Infertil (2011) 0.88
MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India. Can J Cardiol (2008) 0.87
Influence of matrix metalloproteinase-1 gene -1607 (1G/2G) (rs1799750) promoter polymorphism on circulating levels of MMP-1 in chronic pancreatitis. Biochem Genet (2013) 0.87
Novel mutations of KCNQ1 in Long QT syndrome. Indian Heart J (2013) 0.87
Endothelin-1 and endothelial nitric oxide polymorphisms in idiopathic pulmonary arterial hypertension. Int J Mol Epidemiol Genet (2010) 0.87
A Robertsonian Translocation rob (14;15) (q10:q10) in a Patient with Recurrent Abortions: A Case Report. J Reprod Infertil (2010) 0.86
Haplotypes of NOS3 gene polymorphisms in dilated cardiomyopathy. PLoS One (2013) 0.85
Coexistence of Digenic Mutations in Both Thin (TPM1) and Thick (MYH7) Filaments of Sarcomeric Genes Leads to Severe Hypertrophic Cardiomyopathy in a South Indian FHCM. DNA Cell Biol (2015) 0.83
Functional polymorphisms in XRCC-1 and APE-1 contribute to increased apoptosis and risk of ulcerative colitis. Inflamm Res (2011) 0.82
Role of transforming growth factor-β1 -509 C/T promoter polymorphism in gastric cancer in south Indian population. Tumour Biol (2011) 0.82
Cardiac Troponin T (TNNT2) mutations are less prevalent in Indian hypertrophic cardiomyopathy patients. DNA Cell Biol (2011) 0.81
Role of interstitial collagenase gene promoter polymorphism in the etiology of gastric cancer. Saudi J Gastroenterol (2014) 0.80
Novel mutations in beta-myosin heavy chain, actin and troponin-I genes associated with dilated cardiomyopathy in Indian population. J Genet (2009) 0.80
High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. BMC Med Genet (2012) 0.80
Role of tumor necrosis factor-α -308 G/A promoter polymorphism in gastric cancer. Saudi J Gastroenterol (2013) 0.80
Epidemiology and genetics of dilated cardiomyopathy in the Indian context. Indian J Med Sci (2009) 0.79
Clinical picture of arrhythmogenic right ventricular dysplasia / cardiomyopathy patients from Indian origin. Indian Pacing Electrophysiol J (2009) 0.79
Paternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and review. J Pediatr Neurosci (2010) 0.79
Role of Plasma MMP 9 levels in the Pathogenesis of Chronic Pancreatitis. Indian J Clin Biochem (2011) 0.79
Association of matrix metalloproteinase-7 (-181A/G) promoter polymorphism in chronic pancreatitis. Indian J Med Res (2014) 0.79
Role of matrix metalloproteinase 3 gene promoter polymorphism in chronic pancreatitis. Indian J Gastroenterol (2011) 0.78
Influence of gelatinase B polymorphic variants and its serum levels in atherosclerosis. Genet Test Mol Biomarkers (2012) 0.78
Plasma TGF-β1, MMP-1 and MMP-3 Levels in Chronic Pancreatitis. Indian J Clin Biochem (2011) 0.78
An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin. PLoS One (2013) 0.78
Genetic variations of α-cardiac actin and cardiac muscle LIM protein in hypertrophic cardiomyopathy in South India. Exp Clin Cardiol (2012) 0.77
Hidden magicians of genome evolution. Indian J Med Res (2013) 0.77
Role of proteases and antiprotease in the etiology of chronic pancreatitis. Saudi J Gastroenterol (2012) 0.76
Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population. Indian J Hum Genet (2011) 0.76
Heterozygosity for TGF β1 -509C/T Polymorphism is associated with risk for breast cancer in South Indian population. Tumour Biol (2012) 0.76
Genetic variation in exon 5 of troponin - I gene in hypertrophic cardiomyopathy cases. Indian J Hum Genet (2007) 0.76
Mosaic triple X syndrome in a female with primary amenorrhea. Indian J Hum Genet (2012) 0.75
Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy. Indian J Hum Genet (2010) 0.75
t-plasminogen activator inhibitor-1 polymorphism in idiopathic pulmonary arterial hypertension. Indian J Hum Genet (2008) 0.75
Linkage analysis of three families with arrythmogenic right ventricular cardiomyopathy in India. Indian J Hum Genet (2009) 0.75
A functional polymorphism in the promoter region of interleukin-10 gene increases the risk for spontaneous abortions--a triad study. J Assist Reprod Genet (2015) 0.75
Epistatic interactions in idiopathic pulmonary arterial hypertension. Indian J Hum Genet (2012) 0.75
A novel chromosomal translocation and heteromorphism in a female with recurrent pregnancy loss--a case study. J Assist Reprod Genet (2012) 0.75
Unique case reports associated with ovarian failure: necessity of two intact x chromosomes. Case Rep Genet (2012) 0.75
Germline study of AR gene of Indian women with ovarian failure. Gynecol Endocrinol (2010) 0.75
A dysmorphic child with a pericentric inversion of chromosome 8. Case Rep Pediatr (2012) 0.75
Efficacy and safety of tenecteplase in pulmonary embolism. J Thromb Thrombolysis (2014) 0.75
Clinical and behavioural profile of a rare variant of Klinefelter syndrome-48, XXXY. Indian J Pediatr (2010) 0.75
Role of IL-6 -174(G/C) promoter polymorphism in the etiology of early-onset preeclampsia. Inflamm Res (2015) 0.75
Successful transcatheter closure of coronary artery fistula in a child with single coronary artery: a heavy load and a long road. Catheter Cardiovasc Interv (2013) 0.75
MAO-A promoter polymorphism and idiopathic pulmonary arterial hypertension. J Genet (2010) 0.75