Group by: Item Type | No Grouping Jump to: Article Number of items: 36. ArticleNampoothiri, S. and Yesodharan, D. and Bhattacherjee, Amrita and Ahamed, H. and Puri, R.D. and Gupta, N. and Kabra, M. and Ranganath, Prajnya and Bhat, M. and Phadke, S.R. and Radha Rama Devi, A. and Jagadeesh, S. and Danda, S. and Sylaja, P.N. and Mandal, K. and Bijarnia‐Mahay, S. and Makkar, R. and Verma, I.C. and Dalal, Ashwin and Ramaswami, U. (2020) Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients. JIMD Reports, 56 (1). pp. 82-94. ISSN 2192-8312 Naushad, S.M. and Sai Shruti, P. and Bharathi, V. and Krishnaprasad, C. and Hussain, T. and Alrokayan, S.A. and Naik, U. and Radha Rama Devi, A. (2016) Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders. Psychiatric Genetics, 26 (6). pp. 281-286. ISSN 0955-8829 Ranganath, P. and Matta, D. and Bhavani, G.S. and Wangnekar, S. and Jain, J.M.N. and Verma, I.C. and Kabra, M. and Puri, R.D. and Danda, S. and Gupta, N. and Girisha, K.M. and Sankar, V.H. and Patil, S.J. and Radha Rama Devi, A. and Bhat, M. and Gowrishankar, K. and Mandal, K. and Aggarwal, Shagun and Tamhankar, P.M. and Tilak, P. and Phadke, S.R. and Dalal, Ashwin (2016) Spectrum of SMPD1mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. American Journal of Medical Genetics Part A, 170 (10). pp. 2719-2730. ISSN 1552-4825 Radha Rama Devi, A. and Ramesh, V.A. and Nagarajaram, H.A. and Satish, S.P.S. and Jayanthi, U. and Lingappa, L. (2016) Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I – Study from South India. Brain and Development, 38 (1). pp. 54-60. ISSN 0387-7604 Bhavani, G.S. and Shah, H. and Dalal, Ashwin and Shukla, A. and Danda, S. and Aggarwal, Shagun and Phadke, S.R. and Gupta, N. and Kabra, M. and Gowrishankar, K. and Gupta, A. and Bhat, M. and Puri, R.D. and Bijarnia-Mahay, S. and Nampoothiri, S. and Mohanasundaram, K.M. and Rajeswari, S. and Kulkarni, A.M. and Kulkarni, M.L. and Ranganath, P. and Radha Rama Devi, A. and Hariharan, S.V. and Girisha, K.M. (2015) Novel and recurrent mutations inWISP3and an atypical phenotype. American Journal of Medical Genetics Part A, 167 (10). pp. 2481-2484. ISSN 1552-4825 Bashyam, M.D. and Chaudhary, A.K. and Kiran, M. and Reddy, V. and Nagarajaram, H.A. and Dalal, Ashwin and Bashyam, L. and Sun, D. and Gupta, A. and Gupta, N. and Kabra, M. and Puri, R.D. and Radha Rama Devi, A. and Kapoor, S. and Danda, S. (2014) Molecular analyses of novel ASAH1 mutations causing Farber lipogranulomatosis: analyses of exonic splicing enhancer inactivating mutation. Clinical Genetics, 86 (6). pp. 530-538. ISSN 1399-0004 Bidchol, A.M. and Dalal, Ashwin and Shah, H. and Suryanarayana, S. and Nampoothiri, S. and Kabra, M. and Gupta, N. and Danda, S. and Gowrishankar, K. and Phadke, S.R. and Kapoor, S. and Kamate, M. and Verma, I.C. and Puri, R.D. and Sankar, V.H. and Radha Rama Devi, A. and Patil, S.J. and Ranganath, P. and Jain, S.J.M.N. and Agarwal, Meenal and Singh, Ankur and Mishra, P. and Tamhankar, P.M. and Gopinath, P.M. and Nagarajaram, H.A. and Satyamoorthy, K. and Girisha, K.M. (2014) GALNS Mutations in Indian Patients With Mucopolysaccharidosis IVA. American Journal of Medical Genetics Part A, 164A (11). pp. 2793-2801. ISSN 1552-4833 Naushad, S.M. and Krishnaprasad, C. and Radha Rama Devi, A. (2014) Adaptive developmental plasticity in methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism limits its frequency in South Indians. Molecular Biology Reports, 41 (5). pp. 3045-50. ISSN 1573-4978 Bashyam, M.D. and Chaudhary, A.K. and Kiran, M. and Nagarajaram, H.A. and Radha Rama Devi, A. and Ranganath, P. and Dalal, Ashwin and Bashyam, L. and Gupta, N. and Kabra, M. and Muranjan, M. and Puri, R.D. and Verma, I.C. and Nampoothiri, S. and Kadandale, J.S. (2014) Splice, insertion-deletion and nonsense mutations that perturb the phenylalanine hydroxylase transcript cause phenylketonuria in India. Journal of Cellular Biochemistry, 115 (3). pp. 566-74. ISSN 1097-4644 Naushad, S.M. and Jain, J.M.N. and Krishnaprasad, C. and Naik, U. and Radha Rama Devi, A. (2013) Autistic children exhibit distinct plasma amino acid profile. Indian Journal of Biochemistry and Biophysics, 50 (5). pp. 474-478. ISSN 0301-1208 Bashyam, M.D. and Chaudhary, A.K. and Sinha, M. and Nagarajaram, H.A. and Radha Rama Devi, A. and Bashyam, L. and Reddy, E.C. and Dalal, Ashwin (2012) Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β. Journal of Cellular Biochemistry, 113 (10). pp. 3122-3132. ISSN 0730-2312 Bashyam, M.D. and Chaudhary, A.K. and Reddy, E.C. and Reddy, V. and Acharya, V. and Nagarajaram, H.A. and Radha Rama Devi, A. and Bashyam, L. and Dalal, Ashwin and Gupta, N. and Kabra, M. and Agarwal, Meenal and Phadke, S.R. and Tainwala, R. and Kumar, R. and Hariharan, S.V. (2012) A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India. British Journal of Dermatology, 166 (4). pp. 819-829. ISSN 0007-0963 Sahai, I. and Zytkowicz, T. and Rao, K.S. and Lakshmi, K.A. and Eaton, R.B. and Radha Rama Devi, A. (2011) Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study in Andhra Pradesh, India. The Indian Journal of Pediatrics, 78 (8). pp. 953-960. ISSN 0019-5456 Radha Rama Devi, A. and Dutta, Usha (2011) Ring Chromosome 20 Associated with Refractory Epilepsy: A Case Report. Asian Journal of Medical Sciences, 2 (3). pp. 141-144. ISSN 2091-0576 Bashyam, M.D. and Chaudhary, A.K. and Reddy, E.C. and Radha Rama Devi, A. and Savithri, G.R. and Ratheesh, R. and Bashyam, L. and Mahesh, E. and Sen, D. and Puri, R.D. and Verma, I.C. and Nampoothiri, S. and Vaidyanathan, S. and Chandrashekar, M.D. and Prameela, K. (2010) Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA. Molecular Genetics and Metabolism, 100 (1). pp. 96-99. ISSN 1096-7192 Naushad, S.M. and Radha Rama Devi, A. (2010) Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India. Journal of Perinatal Medicine, 38 (1). pp. 63-69. ISSN 0300-5577 Naushad, S.M. and Jain, J.M.N. and Krishnaprasad, C. and Singh, R.P. and Naik, U. and Radha Rama Devi, A. (2009) Aberrations in folate metabolic pathway and altered susceptibility to autism. Psychiatric Genetics, 19 (4). pp. 171-176. ISSN 0955-8829 Govindaiah, V. and Naushad, S.M. and Jain, J.M.N. and Krishnaprasad , C. and Radha Rama Devi , A. (2009) Genetic and environmental influences on total plasma homocysteine and coronary artery disease (CAD) risk among South Indians. Clinica Chimica Acta, 405 (1-2). pp. 127-131. ISSN 0009-8981 Govindaiah, V. and Naushad, S.M. and Prabhakara, K. and Krishnaprasad, C. and Radha Rama Devi, A. (2009) Association of parental hyperhomocysteinemia and C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism with recurrent pregnancy loss. Clinical Biochemistry, 42 (4-5). pp. 380-386. ISSN 0009-9120 Prabhakara, K. and Bruno, D.L. and Padman, P. and Prasad, Suma and Sudheer Kumar, R. and Slater, H. R. and Radha Rama Devi, A. (2008) Prenatal detection of deletion–duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion. Prenatal Diagnosis, 28 (5). pp. 466-468. ISSN 0197-3851 Radha Rama Devi, A. and Reddy, E.C. and Ranjan, S. and Bashyam, M.D. (2008) Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes. British Journal of Dermatology, 158 (1). pp. 163-167. ISSN 0007-0963 Naushad, S.M. and Jain, J.M.N. and Krishnaprasad, C. and Radha Rama Devi, A. (2008) Relationship between methionine synthase, methionine synthase reductase genetic polymorphisms and deep vein thrombosis among South Indians. Clinical Chemistry and Laboratory Medicine, 46 (1). pp. 73-79. ISSN 1434-6621 Naushad, S.M. and Jain, J.M.N. and Angalena, M.R.K. and Prasad, C.K. and Radha Rama Devi, A. (2007) Hyperhomocysteinemia and the compound heterozygous state for methylene tetrahydrofolate reductase are independent risk factors for deep vein thrombosis among South Indians. Blood Coagulation & Fibrinolysis, 18 (2). pp. 113-117. ISSN 0957-5235 Radha Rama Devi, A. and Gopikrishna, M. and Ratheesh, R. and Savithri, G.R. and Gowrishankar, S. and Bashyam, M.D. (2006) Farber lipogranulomatosis: clinical and molecular genetic analysis reveals a novel mutation in an Indian family. Journal of Human Genetics, 51 (9). pp. 811-814. ISSN 1434-5161 Radha Rama Devi, A. and Naushad, S.M. and Krishnaprasad, C. (2006) Evaluation of total plasma homocysteine in Indian newborns using heel-prick samples. The Indian Journal of Pediatrics, 73 (6). pp. 503-508. ISSN 0019-5456 Sowjanya, A.P. and Jain, M. and Usha Rani, P. and Padma, S. and Das, M. and Shah, K.V. and Rao, B.N. and Radha Rama Devi, A. and Gravitt, P.E. and Ramakrishna, Gayatri (2005) Prevalence and distribution of high-risk human papilloma virus (HPV) types in invasive squamous cell carcinoma of the cervix and in normal women in Andhra Pradesh, India. BMC Infectious Diseases, 5. p. 116. ISSN 1471-2334 Bashyam, M.D. and Bashyam, L. and Savithri, G.R. and Gopikrishna, M. and Sangal, V. and Radha Rama Devi, A. (2004) Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene. Journal of Human Genetics, 49 (8). pp. 408-413. ISSN 1434-5161 Prabhakara, K. and Wyandt, H.E. and Huang, X.L. and Prasad, K.S. and Radha Rama Devi, A. (2004) Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Annales de Génétique, 47 (3). pp. 297-303. ISSN 0003-3995 Radha Rama Devi, A. and Govindaiah, V. and Ramakrishna, Gayatri and Naushad, S.M. (2004) Prevalence of methylene tetrahydrofolate reductase polymorphism in South Indian population. Current Science, 86 (3). pp. 440-443. ISSN 0011-3891 Radha Rama Devi, A. and Naushad, S.M. (2004) Newborn screening in India. The Indian Journal of Pediatrics, 71 (2). pp. 157-160. ISSN 0019-5456 Prabhakara, K. and Radha Rama Devi, A. (2004) Premature centromere division versus C-anaphases in cultures: Need for consensus and guidelines. American Journal of Medical Genetics, 124A (3). p. 331. ISSN 0148-7299 Prabhakara, K. and Angalena, R. and Radha Rama Devi, A. (2004) Familial (9;11)(p22;p15.5)pat translocation and XX sex reversal in a phenotypic boy with cryptorchidism and delayed development. Genetic Counseling (Geneva, Switzerland), 15 (1). pp. 37-41. ISSN 1015-8146 Mandal, A.K. and Prabhakara, K. and Reddy, A.B.M. and Radha Rama Devi, A. and Panicker, S.G. (2003) Congenital glaucoma associated with 22p+ variant in a dysmorphic child. Indian Journal of Ophthalmology, 51 (4). pp. 355-7. ISSN 0301-4738 Prabhakara, K. and Dutta, Usha and Radha Rama Devi, A. (2002) A partial 15q22 trisomy arising due to segregation of maternal 10;15 reciprocal translocation. Indian Pediatrics, 39 (11). pp. 1050-1054. ISSN 0019-6061 Radha Rama Devi, A. and Prabhakara, K. and Dutta, Usha (2002) Familial (11;21)(p13;q22)pat balanced reciprocal translocation in a female child with regression of milestones. Annales de Génétique, 45 (1). pp. 13-5. ISSN 0003-3995 Radha Rama Devi, A. and Naik, U. and Dutta, Usha and Srikanth, and Prabhakara, K. (2002) De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation. American Journal of Medical Genetics A, 113 (2). pp. 190-192. ISSN 0148-7299
|