Search Results - "Gopinath, Puthiya M."

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    Upregulation of TFAM and mitochondria copy number in human lymphoblastoid cells by Chakrabarty, Sanjiban, D'Souza, Reena Reshma, Kabekkodu, Shama Prasada, Gopinath, Puthiya M, Rossignol, Rodrigue, Satyamoorthy, Kapaettu

    Published in Mitochondrion (01-03-2014)
    “…Mitochondria are central to several physiological and pathological conditions in humans. In the present study, we performed copy number analysis of nuclear…”
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    Intraindividual somatic variations in MTHFR gene polymorphisms in relation to colon cancer by Rai, Padmalatha S, Pai, Ganesh C, Alvares, Jose F, Bellampalli, Ravishankara, Gopinath, Puthiya M, Satyamoorthy, Kapaettu

    Published in Pharmacogenomics (01-02-2014)
    “…MTHFR mediates the one carbon metabolism pathway. Two common genetic variants, C677T and A1298C, of MTHFR are associated with number of human diseases,…”
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    Association of GRIN1, ABCB1, and DRD4 genes and response to antipsychotic drug treatment in schizophrenia by Pai, Pranita, Arathil, Praveen, Kotambail, Ananthapadmanabha, Nair, Rajesh, Gupta, Meenal, Moily, Nagaraj S, Kukreti, Ritushree, Jain, Sanjeev, Rai, Padmalatha S, Gopinath, Puthiya M, Sharma, Podila S, Satyamoorthy, Kapaettu

    Published in Psychiatric genetics (01-06-2015)
    “…Genetic polymorphisms in dopamine receptors as well as the multidrug resistance genes have been implicated reiteratively as candidate genes for predisposition…”
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    Molecular analysis of cataract families in India: new mutations in the CRYBB2 and GJA3 genes and rare polymorphisms by Santhiya, Sathiyavedu T, Kumar, Ganesan Senthil, Sudhakar, Pridhvi, Gupta, Navnit, Klopp, Norman, Illig, Thomas, Söker, Torben, Groth, Marco, Platzer, Matthias, Gopinath, Puthiya M, Graw, Jochen

    Published in Molecular vision (10-09-2010)
    “…The aim of the study was to resolve the genetic etiology in families having inherited cataracts. Families afflicted with congenital/childhood cataracts were…”
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    Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family by Santhiya, Sathiyavedu T, Soker, Torben, Klopp, Norman, Illig, Thomas, Prakash, M V S, Selvaraj, Bhavani, Gopinath, Puthiya M, Graw, Jochen

    Published in Molecular vision (12-07-2006)
    “…The aim of the present study was to investigate the molecular basis underlying a nonsyndromic presenile autosomal dominant cataract in a three-generation…”
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    Comprehensive DNA copy number profile and BAC library construction of an Indian individual by Chakrabarty, Sanjiban, D'Souza, Reena R., Bellampalli, Ravishankara, Rotti, Harish, Saadi, Abdul V., Gopinath, Puthiya M., Acharya, Raviraja V., Govindaraj, Periyasamy, Thangaraj, Kumarasamy, Satyamoorthy, Kapaettu

    Published in Gene (01-06-2012)
    “…Bacterial artificial chromosomes (BACs) are used in genomic variation studies due to their capacity to carry a large insert, their high clonal stability, low…”
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    Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia by Saadi, Abdul V, Girisha, Katta M, Gopinath, Puthiya M, Satyamoorthy, Kapaettu

    “…Prenatal diagnosis of 3 HBB gene mutations causing β-thalassemia and hemoglobin D Punjab segregated in a South Indian nuclear family is reported along with a…”
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    A Novel Human Sex-Determining Gene Linked to Xp11.21-11.23 by Rajender, Singh, Thangaraj, Kumarasamy, Gupta, Nalini J., Leelavathy, N., Rani, Deepa Selvi, Nambiar, Renjini G., Kalavathy, Vadivelu, Santhiya, Sathiyavedu T., Rajangam, Sayee, Gopinath, Puthiya M., Chakravarty, Baidyanath, Singh, Lalji

    “…Context: The molecular basis for about 70–80% of 46,XY sex-reversed females remains unexplained, because they carry normal copies of the genes (SRY, SOX9,…”
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