Indian Journal of Human Genetics
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   Table of Contents
Coverpage
October-December 2013
Volume 19 | Issue 4
Page Nos. 381-513

Online since Saturday, January 04, 2014

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EDITORIAL  

Innumerable studies on single nucleotide polymorphisms: What could be its utility? p. 381
K Ghosh, Ajit Gorakshakar
DOI:10.4103/0971-6866.124354  PMID:24497699
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REVIEW ARTICLES Top

Epigenetics in the nervous system: An overview of its essential role p. 384
Bhavya Ravi, Manoj Kannan
DOI:10.4103/0971-6866.124357  PMID:24497700
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ORIGINAL ARTICLES Top

Genetic variants in the cytochrome P450 2D6 gene in the Sri Lankan population p. 392
T. D. Praveen Tharanga, C. M. V. Jinadasa, MF Risama, Priyadarshani Galappatthy, RL Jayakody, Vajira H. W. Dissanayake
DOI:10.4103/0971-6866.124361  PMID:24497701
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Deoxyribonucleic acid damage study in primary amenorrhea by comet assay and karyotyping p. 397
Sarah Ramamurthy, Parkash Chand, Latha Chaturvedula, K Ramachandra Rao
DOI:10.4103/0971-6866.124363  PMID:24497702
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Protein tyrosine phosphatase non-receptor type 22 gene polymorphism C1858T is not associated with leprosy in Azerbaijan, Northwest Iran p. 403
Mohammad Reza Aliparasti, Shohreh Almasi, Jafar Majidi, Fatemeh Zamani, Ali Reza Khoramifar, Ali Reza Farshi Azari
DOI:10.4103/0971-6866.124365  PMID:24497703
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Genetic polymorphisms of estrogen receptor alpha and catechol-O-methyltransferase genes in Turkish patients with familial prostate carcinoma p. 408
Ayfer Pazarbasi, M Bertan Yilmaz, Davut Alptekin, Umit Luleyap, Zuhtu Tansug, Lutfiye Ozpak, Muzeyyen Izmirli, Dilge Onatoglu-Arikan, Sabriye Kocaturk-Sel, Mehmet Ali Erkoc, Ozgur Turgut, Ceyhun Bereketoglu, Erdal Tunc, Eylul Akbal
DOI:10.4103/0971-6866.124366  PMID:24497704
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Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children p. 412
Anupam Kaur, Amandeep Kaur
DOI:10.4103/0971-6866.124368  PMID:24497705
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Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study p. 415
Frenny J Sheth, Thomas Liehr, Pritti Kumari, Ralph Akinde, Harsh J Sheth, Jayesh J Sheth
DOI:10.4103/0971-6866.124369  PMID:24497706
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Distribution and genotype frequency of the C1431T and pro12ala polymorphisms of the peroxisome proliferator activator receptor gamma gene in an Iranian population p. 423
Hassan Rooki, Monir-Sadat Haerian, Pedram Azimzadeh, Mahmoud Ebrahimi, Reza Mirhafez, Gordon Ferns, Majid Ghayour-Mobarhan, Mohammad-Reza Zali
DOI:10.4103/0971-6866.124370  PMID:24497707
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Promoter variants in interleukin-6 and tumor necrosis factor alpha and risk of coronary artery disease in a population from Western India p. 430
Aparna A Bhanushali, BR Das
DOI:10.4103/0971-6866.124371  PMID:24497708
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Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development p. 437
Dhanjit Kumar Das, Subodh G Rahate, Bhakti P Mehta, Harshavardhan M Gawde, Parag M Tamhankar
DOI:10.4103/0971-6866.124372  PMID:24497709
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Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization p. 443
Farkhondeh Behjati, Saghar Ghasemi Firouzabadi, Roxana Kariminejad, Roshanak Vameghi, Firouzeh Sajedi, Yousef Shafaghati, Behruz Ebrahimizade Ghasemlou, Azadeh Shojaei, Peyman Jamali, Ideh Bahman, Hossein Najmabadi
DOI:10.4103/0971-6866.124373  PMID:24497710
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Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population p. 449
Rajeev Kumar Pandey, Minu Bajpai, Abid Ali, Sukanya Gayan, Amit Singh
DOI:10.4103/0971-6866.124374  PMID:24497711
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The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran p. 454
Keyvan Moradi, Reza Alibakhshi, Shohreh Khatami
DOI:10.4103/0971-6866.124375  PMID:24497712
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Msx1 Gene Variant - its Association in Isolated Hypodontia: A Case Control Genetic study!!! p. 459
Naveen Admala Reddy, Gopinath Adusumilli, Raghu Devanna, Rohra G Mayur, Saravanan Pichai, Sharmila Arujnan
DOI:10.4103/0971-6866.124376  PMID:24497713
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Analysis of association of TaqI VDR gene polymorphism with the chronic periodontitis in Dravidian ethnicity p. 465
Gurumoorthy Kaarthikeyan, ND Jayakumar, O Padmalatha, Sheeja Varghese, B Anand
DOI:10.4103/0971-6866.124377  PMID:24497714
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CASE REPORTS Top

A rare anomaly of the foot presented as polydactyly p. 469
Vikram Jeet Singh Dhingra, Ashish Kumar, Amit Mittal, Samita Gupta, Rikki Singal, Bir Singh, Chetan Dua
DOI:10.4103/0971-6866.124378  PMID:24497715
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Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis Highly accessed article p. 472
Kotb Abbass Metwalley, Hekma Saad Farghaly
DOI:10.4103/0971-6866.124379  PMID:24497716
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Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling p. 475
Ruchi Nadar, Kavita Khatod, Nikhil Phadke, Chaitanya Datar, Sujata Vaidya, Anuradha Khadilkar, Vaman Khadilkar
DOI:10.4103/0971-6866.124380  PMID:24497717
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Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases p. 479
Deepti Mutreja, Seema Tyagi, Narender Tejwani, Jasmita Dass
DOI:10.4103/0971-6866.124381  PMID:24497718
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An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges p. 483
Hamoud H Al Khallaf, Miao He, Angela Wittenauer, Elizabeth E Woolley, Mariagrazia Cunto, Muhammad Ali Pervaiz
DOI:10.4103/0971-6866.124382  PMID:24497719
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Dyschromatosis universalis hereditaria: Infrequent genodermatoses in India p. 487
Hari Kishan Kumar Yadalla, Srivalli Pinninti, Anagha Ramesh Babu
DOI:10.4103/0971-6866.124383  PMID:24497720
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A case report of ectopia cordis and omphalocele p. 491
Amar M Taksande, Krishna Y Vilhekar
DOI:10.4103/0971-6866.124384  PMID:24497721
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META ANALYSIS Top

Deoxyribonucleic acid repair gene X-ray repair cross-complementing group 1 polymorphisms and non-carcinogenic disease risk in different populations: A meta-analysis p. 494
Bagher Larijani, Javad Mohammadi Asl, Abbas Keshtkar, Najmaldin Saki, Fatemeh Ardeshir Larijani, Fakher Rahim
PMID:24497722
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LETTERS TO THE EDITOR Top

Influenza A H1N1 hemagglutinin and human axon guidance proteins: Peptide sharing but not same epitopes p. 512
Somsri Wiwanitkit, Viroj Wiwanitkit
DOI:10.4103/0971-6866.124386  PMID:24497723
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Deoxyribonucleic acid profiling in forensic dental identification p. 513
Thorakkal Shamim
DOI:10.4103/0971-6866.124387  PMID:24497724
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