Volume 7; Issue 1 Suppleme

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Molecular Cytogenetics
Volume 7; Issue 1 Suppleme

Molecular Cytogenetics

Volume 7; Issue 1 Suppleme

1

Prenatal diagnosis of lysosomal storage disorders: our experience in 120 cases

Mistri, Mehul, Oza, Nrupesh, Sheth, Frenny, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

2

Prenatal diagnosis of autosomal recessive osteopetrosis: a case report

Mistri, Mehul, Patel, Harsh, Tanna, Tanmay, Ankleshwaria, Chitra, Sheth, Frenny, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 68 KB

english, 2014

3

Genetic variation of ITGB3 is associated with Autism Spectrum Disorders (ASD) in South Indian children

Nair, Femina KMB, Suresh, PA, Banerjee, Moinak

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 80 KB

english, 2014

4

Stress and 5-HTT (SLC6A4) as an indicator of suicidal behavior: a population study among the Dubla tribe of Daman

Saha, Sweta, Newmei, Masan, Pasi, Shivani, Singh, Piyoosh Kumar, Rao, Vadlamudi

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

5

Understanding insulin resistance pathophysiology in PCOS: a genetic approach

Mukherjee, Srabani, Shaikh, Nuzhat, Dadachanji, Roshan, Shah, Nalini, Patil, Anushree

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

6

Role of TNF-A, IL-6 and IL-4 with the susceptibility to chronic periodontitis in North Indian population: a multi-analytic approach

Prakash, Garima, Ajay, Sadhna, Gupta, KK, Mittal, Balraj

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 68 KB

english, 2014

7

Impact of Vedic Chants Intervention Programme on Autistic Spectrum Disorder

Dinesh Kumar, Kandasamy, Badhe, Sushruth, Santhiya, Sathiyavedu

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 84 KB

english, 2014

8

Role of miRNA binding site SNPs in candidate genes in a North Indian schizophrenia cohort

John, Jibin, Deshpande, Smita N, Nimgaonkar, Vishwajit L, Thelma, BK

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

9

Genetic Variation in Intercellular Adhesion Molecule-1 (ICAM-1): candidate gene in susceptibility to malaria in the Indian population

Gupta, Anuroopa, Padh, Harish

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

10

Functional genomics of lung cancer progression reveals mechanism of metastasis suppressor function

Thakur, Ram, Yadav, Vinod Kumar, Kumar, Akinchan, Basundra, Richa, Kar, Anirban, Halder, Rashi, Singh, Ankita, Kumar, Pankaj, Baral, Aradhita, Kumar, MJ, Pal, Krishnendu, Banerjee, Rajkumar, Chowdhury

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 77 KB

english, 2014

11

TiO2 NPs induced hepatic injury in mammals: a mechanistic approach

Shukla, Ritesh K, Kumar, Ashutosh, Vallabani, NV, Singh, Sanjay, Dhawan, Alok

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

12

Assessment ofMBL2gene polymorphism and lipid peroxidation in Chronic Obstructive Pulmonary Disease (COPD)

Sharma, Aarti, Gandhi, Gursatej, Singh, Jatinder, Singh, Sukhdev, Kaur, Manpreet

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 80 KB

english, 2014

13

Association of Genetic Polymorphisms in STAT 3, STAT 5b and GWAS IdentifiedPTPN22Gene with Rheumatic Heart Disease

Gupta, Usha, Mishra, Avshesh, Rathore, Saurabh S, Mir, Snober S, Agarwal, SK, Garg, Naveen, Mittal, Balraj

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 80 KB

english, 2014

14

PEGylated nanoceria protect human epidermal cells from reactive oxygen species

Singh, Ragini, Shukla, Ritesh K, Kumar, Ashutosh, Dhawan, Alok, Singh, Sanjay

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

15

In vitro fluoride induced genotoxic effect on human blood lymphocyte cells and its amelioration by emblica officinalis extract

Thakur, Swati B, Rao, Mandava V

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

16

Defining the effects of prematurity on the lymphocyte transcriptome

Bhattacharya, Soumyaroop, Misra, Ravi, Hyuck, Heidi, Slaunwhite, Christopher, Castiglione, Shannon, Maffett, Deanna, Reynolds, Anne, Pryhuber, Gloria, Mariani, Thomas

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

17

Role of cholecystokinin receptor-A gene polymorphism in development of functional dyspepsia

Singh, Rajan, Mittal, Balraj, Ghoshal, Uday C

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

18

Next generation sequence analysis of the transcriptional response to neonatal hyperoxia

Bhattacharya, Soumyaroop, Zhou, Zhongyang, Yee, Min, Lopez, Ashley, Lunger, Valarie, Buczynski, Bradley, Pryhuber, Gloria, Mariani, Thomas, OReilly, Michael

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

19

Mental retardation in younger children

Shukla, Grishma, Thakur, Swati B, Swamy, GT, Rao, MV

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 77 KB

english, 2014

20

Population allele frequencies of disease associated SNPs in India: a paradigm shift from HapMap

Mankad, Pankaj, Balan, Srisanth, Mohammed, Saleem

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

21

Effect ofPPAR-γ2Gene Pro12Ala polymorphism (Rs1801282) and Vitamin D3on glucose homeostasis in Type 2 diabetic subjects from Gujarat-India

Majumder, Avisek, Sheth, Frenny, Patel, Manan, Doshi, Bhavik, Shah, Navneet, Thankor, Premal, Vaidya, Rama, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

22

Cytotoxicity assessment of ZnO nanoparticles on human epidermal cells

Patel, Pal, Kansara, Krupa, Shah, Darshini, Vallabani, NV, Shukla, Ritesh K, Singh, Sanjay, Dhawan, Alok, Kumar, Ashutosh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

23

Association of Vitamin D3levels with glycemic control in Type 2 diabetes subjects from Gujarati population-India

Majumder, Avisek, Doshi, Bhavik, Sheth, Frenny, Patel, Manan, Shah, Navneet, Premal, Thakor, Vaidya, Rama, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

24

Host-guest mediated sensing of biologically relevant small molecules using supramolecular nanoassembly

Pandya, Alok, Sutaria, Pinkesh G, Lodha, Anand, Goswami, Heena, Menon, Shobhana K

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

25

Role of sarcomeric gene polymorphisms on left ventricular dysfunction in coronary artery disease patients

Kumar, Surendra, Mishra, Avshesh, Srivastava, Anshika, Garg, Naveen, Agarwal, Surendra Kumar, Pande, Shantanu, Mittal, Balraj

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

26

Genome Wide Association Study to Identify SNPs Associated with Homocysteine, Vitamin B12and Holotranscobalamin in Indian Population

Tanwar, Vinay Singh, Garg, Gaurav, Mukherjee, Ankur, Karthikeyan, Ganesan, Seth, Sandeep, Basu, Analabha, Sengupta, Shantanu

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

27

Prenatal diagnosis of Tay-Sachs disease: our institutional experience

Sheth, Jayesh, Mistri, Mehul, Sheth, Frenny, Gupta, Sarita

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

28

Mitochondrial-nuclear epistasis contributes to phenotypic variation in wild yeasts

Paliwal, Swati, Fiumera, Anthony C, Fiumera, Heather L

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

29

Protein structure prediction for novel mutations in Arylsulfatase-A gene

Divya, M, Jain, S Jamal, Phadke, SR, Kishore, Ratna, Kamate, Mahesh, Gupta, Neerja, Dalal, Ashwin

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

30

Association of microRNA-146a and their target gene IRAK-1 polymorphism with enthesitis related arthritis category of juvenile idiopathic arthritis

Singh, Sushma, Rai, Geeta, Aggarwal, Amita

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 82 KB

english, 2014

31

Molecular basis ofDYT1andDYT6primary dystonia in Indian patients

Giri, Subhajit, Biswas, Arindam, Das, Shyamal Kumar, Ray, Kunal, Ray, Jharna

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

32

Influence ofCYP3A5polymorphism on tacrolimus drug dosing in Indian renal allograft recipients: initial experience

Patel, Mohan, Gumber, Manoj, Kute, Vivek, Shah, Pankaj, Patel, Himanushu, Trivedi, Hargovind, Vanikar, Aruna, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 83 KB

english, 2014

33

Beta thalassemia prevention in India: evaluation of socio- cultural factors

Chawla, Swati, Singh, Rajnish, Rao, VR

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

34

A family based study on T-C transition polymorphism in Cyp17a1 gene in Indian children

Gayan, Sukanya, Ali, Abid, Pandey, Rajeev Kumar, Bajpai, Minu

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

35

Alarming findings about genomics of sudden cardiac arrest in India

Mankad, Pankaj, Balan, Srisanth, Mohammed, Saleem

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

36

Association of HLA-G 14bp INS/DEL Polymorphism with brain morphology in Schizophrenia

Rajasekaran, Ashwini, Shivakumar, Venkataram, Venugopal, Deepthi, Kalmady, Sunil V, Amaresha, Anekal C, Agarwal, Mahavir, Narayanaswamy, Janardhanan C, Venkatasubramanian, Ganesan, Debnath, Monojit

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 68 KB

english, 2014

37

Characterization of prenatally detected small Supernumerary Marker Chromosomes (sSMC) by molecular cytogenetic technique: FISH

Patel, Bhumi, Liehr, Thomas, Desai, Manisha, Parikh, Bindu, Sheth, Jayesh, Sheth, Frenny

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 85 KB

english, 2014

38

Multi- analytical approach: better predictor of pharmacogenetic based clinical outcomes in breast cancer therapies

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 81 KB

english, 2014

39

Effect ofPPAR-γ2gene Pro12Ala andADR-β3gene Trp64AArg polymorphism on glucose homeostasis in Type 2 diabetes subjects from Western India

Shah, Ankna, Sheth, Frenny, Majumder, Avisek, Doshi, Bhavik, Shah, Navneet, Thakor, Premal, Vaidya, Rama, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

40

Evaluation of galectin-3 genetic variants and lipid profile in RA patients in North Indian population

Kaur, Tarnjeet, Kaur, Manpreet, Singh, Jatinder, Singh, Sukhdev, Arora, Sumeet

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

41

Transmission Disequilibrium Test for quantitative traits based on multiple sibs

Kulkarni, Hemant S, Ghosh, Saurabh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

42

Role of betel quid in changing oral pathology

Adhikari, Aniket, Mukherjee, Subhrajyoti, Roy, Kaustav, Roychowdhury, Ranjan, De, Madhusnata

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

43

Glutamate transporter genes are associated with schizophrenia in South Indian population

Jajodia, Ajay, Kaur, Harpreet, Baghel, Ruchi, Kaur, Gurpreet, Jain, Sanjeev, Kukreti, Ritushree

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

44

Association of ESR and FOXP3 gene polymorphisms with outcome of ovarian stimulation in infertile females undergoing IVF

Patnam, Arun, Vinu, R, Vijayalakshmi, J, Venkatachalam, P, Rani, G

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

45

Microsatellite variation and allele frequency distribution for (TPOX) STRS locus in North Indian Muslim populations

Hussain, Ruqaiya, Afzal, Mohammad

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 64 KB

english, 2014

46

Partial deletion of distal long arm encompassing Jacobsen Syndrome

Desai, Manisha, Patel, Bhumi, Datar, Chaitanya, Pandit, Anand, Ghambhir, Prakash, Nayak, Darshana, Sheth, Jayesh, Sheth, Frenny

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

47

Genetic damage biomarkers in buccal epithelial cells of healthy individuals staying near three mobile phone base stations

Mahajan, Naresh, Bhat, Akbar, Gandhi, Gursatej

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

48

Significance of gain and loss of chromosomal abnormalities in AML: an Indian experience

Trivedi, Pina J, Brahmbhatt, Manisha M, Patel, Dharmesh M, Dalal, Esha N, Joshi, Geeta, Patel, Prabhudas S

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

49

Possible involvement of altered expression of BDNF exon II gene and specific dopamine receptors in simvastatin induced beneficial effects in depression

Rana, Digvijay G, Patel, Amrut, Joshi, CG, Goyal, Ramesh K

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

50

Chromosomal abnormalities and hormonal imbalance in patients with amenorrhea in Tamilnadu

Bhavani, G, Chandra, RS, Anuradha, D, Santhiya, ST

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

51

TMC1 may be a common gene for nonsyndromic hereditary hearing loss in Indian population

Singh, Pawan Kumar, Sharma, Shipra, Ghosh, Manju, Shastri, Shivaram S, Gupta, Neerja, Roy Chowdhury, Madhumita, Kabra, Madhulika

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

52

Genetic susceptibility of Henoch-Schönlein purpura in children

Aggarwal, Ritu, Gupta, Anju, Naru, Jasmine, Nanda, Neha, Salaria, Manila, Suri, Deepti, Singh, Surjit

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

53

Genome-wide analysis identifies common CNVs associated with primary open angle glaucoma

Kaurani, Lalit, Vishal, Mansi, Kumar, Dhirender, Mehani, Bharati, Sharma, Charu, Sharma, Anchal, Dash, Debasis, Ray, Jharna, Sen, Abhijit, Ray, Kunal, Mukhopadhyay, Arijit

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 70 KB

english, 2014

54

Squared nasal root, nasal voice -indicators of 22 q11.2 deletion in patients with psychiatric illness

Annavarapu, Jyothilakshmi, Halappa, Prabhavathi, Elackatt, Niby J, Shetty, Mitesh, Hegde, Sridevi

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 77 KB

english, 2014

55

Impact ofKCNJ11,TCF7L2,SLC30A8,IGF2BP2,PPARG,SLC47A1,STK11,HHEX,KCNQ1,CDKAL1,FTO,CYP2C9,ADIPOQ,CAPN10gene polymorphisms on risk of type 2 diabetes and therapeutic response to sulfonylurea and metformin therapy

Phani, Nagaraja, Rai, Padmalatha, Adhikari, Prabha, Nagri, Shivashankara, D’Souza, Sydney, Gopinath, Mundyat, Satyamoorthy, Kapaettu

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 88 KB

english, 2014

56

Role of TNF α in the etiopathogenesis of PCOS: a clinical, biochemical and molecular genetic study

Thathapudi, Sujatha, Kodati, Vijayalakshmi, Raj, Ahuja, Addepally, Uma, Katragadda, Anuradha, Hasan, Qurratulain

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 82 KB

english, 2014

57

A case-control association study of K121Q and G/T Variants inENPP1andTCF7L2gene with type 2 diabetes mellitus in North Indian Punjabi Population

Barna, Basanti, Badaruddoza, Null, Matharoo, Kawaljit, Bhanwer, Amarjeet Singh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

58

Oxidant–antioxidant imbalance in the serum of Myotonic Dystrophy type 1 (DM1) patients correlates with the progression of disease

Kumar, Ashok, Agarwal, Sarita, Pradhan, Sunil, Phadke, Shubha

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

59

Skin miRNA profiling reveals differentially expressed miRNA signatures from non-segmental vitiligo patients

Mansuri, Mohmmad Shoab, Singh, Mala, Laddha, Naresh C, Dwivedi, Mitesh, Marfatia, Yogesh S, Begum, Rasheedunnisa

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 77 KB

english, 2014

60

Association of clock gene variants with Autism Spectrum Disorder in South Indian population

Alex, Ann, Suresh, PA, Banerjee, Moinak

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

61

Genetic affinities of six populations of Manipur using a microsatellite (STR) marker

Shah, Ahsana, Hussain, Ruqaiya, Afzal, Mohammad

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

62

TiO2 nanoparticles induced micronucleus formation in human liver (HepG2) cells: comparison of conventional and flow cytometry based methods

Vallabani, NV, Shukla, Ritesh K, Konka, Dinesh, Kumar, Ashutosh, Singh, Sanjay, Dhawan, Alok

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 80 KB

english, 2014

63

IL 10 gene -1082 G/A shows an associatoin with rheumatoid arthritis patients of South Indian Population

Priya, EK, Banerjee, Moinak, Rajesh, S, Sasikala, K

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

64

Mutational landscape of gingivo-buccal oral cancer: new cancer genes and molecular subgroups identified

Majumder, Partha P

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

65

Comparative analysis of human mitochondrial methylome show distinct patterns of epigenetic regulation in mitochondria

Ghosh, Sourav, Sengupta, Shantanu, Scaria, Vinod

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

66

Exposure to ionizing radiations can cause hazardous effects on differentiation of human CD34+ hematopoietic stem cells

Biswas, Angshuman, Sarma, Asiti, Dey, Subrata Kumar

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

67

Do variations in Insulin-like Factor 3 (INSL3) gene affect PCOS susceptibility?

Shaikh, Nuzhat, Shah, Nalini, Mukherjee, Srabani

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

68

BSA coated gold nanoparticles exhibit size dependent interaction with lung cancer (A549) cells

Purohit, Rahul, Vallabani, NV, Shukla, Ritesh K, Kumar, Ashutosh, Dhawan, Alok, Singh, Sanjay

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 68 KB

english, 2014

69

Gene copy number variation in Indian population and its implication in health

Almal, Suhani, Padh, Harish

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

70

Molecular studies on ARX gene in syndromic and non-syndromic mental retardation

Kulkarni, Gayatri, Ranade, Suvidya

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

71

Split hand/foot malformation type 1 associated with 7q21.3 deletion - a case report

Aswini, S, Ambika, S, Pooja, KS, Anuradha, D, Kadandale, JS, Samuel, CR

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

72

Frequency analysis of Spinocerebellar ataxia types 1, 2, 3 & 6 in patients with ataxia from Gujarat

Patel, Harsh, Mistri, Mehul, Ankleshwaria, Chitra, Sheth, Frenny, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

73

In silicodocking studies for designing potent anti-diabetic derivatives of swertiamarin with enzyme HMG COA reductase

Bhatt, Jayshil, Vaidya, Hitesh, Khanna, Varun, Patel, Naisargee, Goyal, Ramesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

74

Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population

Uttarilli, Anusha, Jain, S Jamal, Dalal, Ashwin B, Ranganath, Prajnya, Phadke, Shubha R, Kumar, Girisha, Sankar, Null, Patil, SJ, Kabra, Madhulika, Danda, Sumita

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 64 KB

english, 2014

75

Role of IL-6/JAK/STAT pathway in inducing vascular insulin resistance

Balakrishnan, Aswath, Satyamoorthy, Kapaettu, Joshi, Manjunath B

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

76

Significance of nucleophosmin1 (NPM1) gene mutation status on acute myeloid leukaemia patients with normal karyotype in South India

Sureshkumar, R, Santhi, S, Sangeetha, V, Geetha, N, Hariharan, S

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

77

A data mining approach for identifying novel target specific small molecules

Khanna, Varun, Dhawan, Alok

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

78

Genetic, metabolic and cellular factors influencing intracellular localization of the Wilson disease protein, ATP7B

Gupta, Arnab, Bhattacharjee, Ashima, Hasan, Nesrin, Braiterman, Lita, Lutsenko, Svetlana, Hubbard, Ann L

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

79

Identification of Novel Mutations inHEXAGene in Children Affected with Tay-Sachs Disease from India

Mistri, Mehul, Datar, Chaitanya, Sheth, Frenny, Gupta, Sarita, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

80

Live-cell imaging of compartment-specific redox changes in menkes disease fibroblasts

Bhattacharjee, Ashima, Ralle, Martina, Lutsenko, Svetlana

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

81

TiO2 nanoparticles induce cytotoxicity and genotoxicity in human alveolar cells

Kansara, Krupa, Patel, Pal, Shah, Darshini, Vallabani, NV, Shukla, Ritesh K, Singh, Sanjay, Kumar, Ashutosh, Dhawan, Alok

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

82

Autosomal Dominant Mutation inCOL7A1Gene causing Epidermolysis Bullosa Dystrophica

Sheth, Jayesh, Mistri, Mehul, Patel, Harsh, Ankleshwaria, Chitra, Parikh, Aradhana

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 77 KB

english, 2014

83

Bio-chemical and molecular analysis in cardiomyopathy patients

Raval, Rutvik J, Patel, Tapan A, Sachapara, PL, Rao, Mandava V

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

84

Role of δ-Aminolevulinic Acid Dehydratase (ALAD) gene polymorphism in lead induced nephrotoxicity

Tiwari, Mugdha, Bhagia, LJ, Shaikh, I, Rohila, D

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 77 KB

english, 2014

85

Cytogenetic and Yq microdeletion screening studies in infertile males

Suganya, J, Selvaraj, Kamala, Muthaiah, SS, Chandra, RS

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

86

CD36 gene variants and their potential in determining T2DM susceptibility

Banerjee, Monisha, Gautam, Sunaina, Agrawal, CG

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 70 KB

english, 2014

87

Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)

Ankleshwaria, Chitra, Sheth, Jayesh, Mistri, Mehul, Bavdekar, Ashish, Nampoothiri, Sheela, Gupta, Sarita, Sheth, Frenny

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 70 KB

english, 2014

88

A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9

Dutta, Usha R, Pidugu, Vijaya Kumar, Kalscheuer, Vera M, Dalal, Ashwin B

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

89

A multifactorial dimensionality reduction model for gene polymorphisms and environmental interaction analysis for the detection of susceptibility for type 2 diabetic and cardiovascular diseases

Badaruddoza, Null, Barna, Basanti, Matharoo, Kawaljit, Bhanwer, Amarjeet Singh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 81 KB

english, 2014

90

Application of Chromosomal Microarray and Multiplex Ligation-dependent Probe Amplification in prenatal diagnosis

Sharma, Pankaj, Roy Chowdhury, Madhumita, Gupta, Neerja, Shukla, Rashmi, Sudarshan, Shruthi, Ghosh, Manju, Deka, Deepika, Kabra, Madhulika

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

91

A novel mutation in 3’UTR ofGJB2gene in autosomal recessive nonsyndromic sensorineural hearing loss in South Indian population

sebastian, Maria, Davis, Praveena, Ramdas, Padmaja, Banerjee, Moinak

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

92

Role of Dopamine β Hydroxylase (DBH) in Parkinson's disease patients of Indian population

Ghosh, Arunibha, Biswas, Arindam, Sadhukhan, Tamal, Das, Shyamal Kumar, Ray, Jharna

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

93

Microarray based global transcriptome profiling reveals involvement of non-Hsa21 genes and microRNAs in molecular mechanism of Down syndrome pathogenesis

Pathak, Ashutosh, Agarwal, Divya, Phadke, Shubha R

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

94

Vitamin D receptor gene polymorphisms modulate the clinico-radiological response to vitamin D supplementation in knee osteoarthritis

Sanghi, Divya, Srivastava, RN, Agarwal, Sarita

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

95

Molecular basis of lysosomal storage disorders in India

Kondurkar, Shweta P, Tamhankar, Parag, Kondurkar, Pratima, Dalal, Ashwin, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

96

Evaluation of MC4R [RS17782313, RS17700633], AGRP [RS3412352] and POMC [RS1042571] polymorphisms with obesity in Northern India

Srivastava, Apurva, Mittal, Balraj, Prakash, Jai, Srivastava, Neena

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

97

Maternal gene polymorphisms of folate metabolism as genetic risk factor for Down syndrome in North Indian population

Jaiswal, Sushil Kumar, Kumar, Ashok, Gupta, Vineeta, Rani, Anjali, Rai, Amit Kumar

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

98

Association of pro-inflammatory cytokine gene polymorphisms with schizophrenia in South Indian population

Srinivas, Lekshmy, Neetha, NV, Nair, Chandrasekharan, Allencherry, Priya M, Banerjee, Moinak

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 68 KB

english, 2014

99

Assessment of 1p/19q deletion by flourescence insitu hybridization (FISH) in glioma patients from Andhrapradesh

Kavitha, Eppa, Goud, Iravathy, Latha, Swarna, Swain, Meenakshi, De Paude, Michelle, Modi, Tejal, Anuradha, Null, V, Ravi, Aneeb, Sakina, M, Adi Maha Lakshmi, P, Vijayanand Reddy

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 67 KB

english, 2014

100

Transferrin (rs3811647) gene polymorphism in iron deficiency anemia

Manjari, K Sri, Teja, KSPS, Sujatha, M, Jyothy, A, Nallari, Pratibha, Venkateshwari, A

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

101

Use of array CGH for molecular characterization of genetic disorders

Bahal, Ashish, Null, Rajitha P, Dalal, Ashwin

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

102

Thalassemias: can we reduce the national burden?

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

103

Haemophilia - diagnosis and management challenges

Shetty, Shrimati

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

104

Chromosomal instability and molecular mutations in multi spectrum disease of Fanconi anemia

Vundinti, Babu Rao

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 83 KB

english, 2014

105

Challenges in prenatal and pre-implantation genetic diagnosis studies

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

106

Current status of sickle cell disease in India: how can you attenuate?

Mohanty, Dipika

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

107

Newborn screening- the roadmap for India

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

108

Community genetics approaches in the prevention of beta-thalassemia: towards achieving ‘Zero beta-thalassemia’ status in India

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

109

Dysmorphology of inborn errors of metabolism

Kimonis, Virginia

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

110

Treatment of inborn errors of metabolism

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

111

Perspective of stem cell research & therapy in diabetes

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

112

Unlocking the chemistry of bile acids for cancer therapeutics

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 70 KB

english, 2014

113

Pre-implantation and polar body diagnosis in cases of parental chromosomal translocations applying array-CGH

Wegner, Rolf-Dieter, Stumm, Markus, Mundt, Heide, Bloechle, Matthias

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

114

New born screening program in India: ICMR multicentric experience

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 75 KB

english, 2014

115

Early stress evokes age-dependent biphasic changes in hippocampal neurogenesis, epigenetic regulation of the bdnf gene, and cognitive behavior

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 70 KB

english, 2014

116

Neuroferritinopathy: iron in the brain

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

117

Clinical aspects of neuroregression: our experience on batten disease

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

118

Birth defects: etiology to prevention

Godbole, Koumudi

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

119

Prenatal screening for Mendelian disorders in antenatal care

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

120

In search of epi-driver genes in head and neck cancer

Bhattacharjya, Sumana, Roy, Kumar Singha, Bhattacharyya, Nitai P, Roychoudhury, Susanta

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 77 KB

english, 2014

121

Epigenetic regulation of double c2 like domain beta (Doc2b) in cervical cancer

Satyamoorthy, K, Bhat, Samatha, Rotti, Harish, Shamaprasada, K

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

122

Uniparental disomy - clinical consequences due to imprinting and activation of recessive genes

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

123

Fertility options and challenges for patients with cytogenetic infertility & disorders of sex development

Vaidya, Rama, Gogte, Jaya

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

124

Molecular diagnosis of genodermatoses in india

Tamhankar, Parag

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 70 KB

english, 2014

125

Non-invasive prenatal testing (NIPT): a better option for patients

Fauzdar, Ashish

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

126

Genetics of male infertility: Indian scenario

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

127

Non-invasive prenatal diagnosis using massively parallel sequencing - first experience in Germany

Wegner, Rolf-Dieter, Stumm, Markus, Hofmann, Wera

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

128

Basic principles of prenatal screening for aneuploidies

Gambhir, Prakash

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

129

Microdeletion syndromes

Datar, Chaitanya

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

130

Molecular cytogenetic characterization of chromosomal rearrangements - utility in genetic counseling and research

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

131

Small supernumerary marker chromosomes – an update

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

132

Detection and Inheritance Pattern of Copy Number Variations (CNVs) in Children with Multiple Congenital Anomalies

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

133

Clinical utility and dilemmas of SNP microarray testing

Kimonis, Virginia

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

134

Genomic copy number variations in glaucomatous neurodegeneration

Mukhopadhyay, Arijit

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

135

Cytogenetic microarray in prenatal and postnatal diagnosis

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

136

The advantages of SNP arrays over CGH arrays

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

137

Molecular study of lysosomal storage disorders in India

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 68 KB

english, 2014

138

Enzyme replacement therapy for lysosomal storage disorders in India

Muranjan, Mamta

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 63 KB

english, 2014

139

Personal genomes to precision medicine

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

140

New paradigms in whole genome sequencing: from lab bench to cell phone

O’Halloran, Jonathan

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

141

Exome sequencing in unspecific intellectual disability and rare disorders

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

142

Genomic packaging and epigenetic regulation of genes

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 77 KB

english, 2014

143

Affordable diagnosis and prevention of genetic disease

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

144

Next generation diagnostics on cardiomyopathy

Blouin, Jean-Louis, Bevillard, Jeremy, Makrythanasis, Periklis, Guipponi, Michel, Santoni, Federico, Antonarakis, Stylianos E, Fokstuen, Siv

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

145

Non-coding RNA based regulation of blood vessel development in zebrafish and relevance to humans

Sivasubbu, Sridhar

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

146

An empirical assay for assessing genomic sensitivity and for improving cancer diagnostics

Anderson, Diana

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 72 KB

english, 2014

147

Genetics of cardiovascular disorders: influence of maternal nutrition

Cheema, Sukhinder K

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

148

3D facial phenotyping

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

149

Human variome project – current overview

Cotton, Richard

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 82 KB

english, 2014

150

Prakruti genomics and prameha-proclivity: relevance to metabolic syndrome

Vaidya, Ashok DB

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 70 KB

english, 2014

151

Editorial

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 91 KB

english, 2014

152

Utility ofCD-138negative fraction for chromosome analysis in Plasma Cell Dyscrasias (PCD): a novel approach

Velagaleti, Gopalrao, Mendiola, Christina, Mohamed, Gihan, Ehman, William, Noronha, Vinaya, Ortega, Veronica

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 74 KB

english, 2014

153

Association of PKD1 sequence variants with pathophysiology of ADPKD in Indian patients

Raj, Sonam, Singh, RG, Das, Parimal

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

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