Indian Journal of Human Genetics
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   2014| April-June  | Volume 20 | Issue 2  
    Online since October 14, 2014

 
 
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REVIEW ARTICLES
Guidelines for screening, diagnosis and management of hemoglobinopathies
Kanjaksha Ghosh, Roshan Colah, Mamta Manglani, Ved Prakash Choudhry, Ishwar Verma, Nishi Madan, Renu Saxena, Dipty Jain, Neelam Marwaha, Reena Das, Dipika Mohanty, Rajendra Choudhary, Sarita Agarwal, Malay Ghosh, Cecil Ross
April-June 2014, 20(2):101-119
DOI:10.4103/0971-6866.142841  PMID:25400338
  6,571 474 -
EDITORIAL
Methylenetetrahydrofolatereductase C677T polymorphism and folate metabolism in human health
Babu Rao Vundinti
April-June 2014, 20(2):99-100
DOI:10.4103/0971-6866.142840  PMID:25400337
  3,427 307 -
REVIEW ARTICLES
Genetics in psychiatry
Shreekantiah Umesh, Shamshul Haque Nizamie
April-June 2014, 20(2):120-128
DOI:10.4103/0971-6866.142845  PMID:25400339
  3,286 218 -
ORIGINAL ARTICLES
Prevalence of genetic variants associated with cardiovascular disease risk and drug response in the Southern Indian population of Kerala
Lakshmi Mahadevan, Ancy Yesudas, PK Sajesh, S Revu, Prasanna Kumar, Devi Santhosh, Sam Santhosh, JM Sashikumar, VK Gopalakrishnan, Joji Boben, Changanamkandath Rajesh
April-June 2014, 20(2):175-184
DOI:10.4103/0971-6866.142896  PMID:25400347
  2,807 128 -
CASE REPORTS
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)
Suresh R. S. Mandrekar, Sangeeta Amoncar, Siddhartha Banaulikar, Vishal Sawant, R. G. W. Pinto
April-June 2014, 20(2):195-198
DOI:10.4103/0971-6866.142906  PMID:25400352
  2,626 52 -
First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis
Abbas Sahami, Nourkhoda Sadeghifard, Alireza Monsef, Hadi Peyman
April-June 2014, 20(2):199-202
DOI:10.4103/0971-6866.142911  PMID:25400353
  1,963 52 -
REVIEW ARTICLES
Mammalian non-classical major histocompatibility complex I and its receptors: Important contexts of gene, evolution, and immunity
BM Pratheek, Tapas K Nayak, Subhransu S Sahoo, Prafulla K Mohanty, Soma Chattopadhyay, Ntiya G Chakraborty, Subhasis Chattopadhyay
April-June 2014, 20(2):129-141
DOI:10.4103/0971-6866.142855  PMID:25400340
  1,829 82 -
CASE REPORTS
Fetal valproate syndrome
Parmarth G Chandane, Ira Shah
April-June 2014, 20(2):187-188
DOI:10.4103/0971-6866.142898  PMID:25400349
  1,739 87 1
Phenotypical characterization of 13q deletion syndrome: Report of two cases
Eiman Bagherizadeh, Yousef Shafaghati, Fatemeh Hadipour, Farkhondeh Behjati
April-June 2014, 20(2):203-205
DOI:10.4103/0971-6866.142912  PMID:25400354
  1,732 58 -
Ectopia cilia with pedigree analysis: Second case report in the world
Tarang Goyal, Anupam Varshney, SK Bakshi
April-June 2014, 20(2):185-186
DOI:10.4103/0971-6866.142897  PMID:25400348
  1,444 78 -
ORIGINAL ARTICLES
Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India
Vandana Rai, Upendra Yadav, Pradeep Kumar, Sushil Kumar Yadav
April-June 2014, 20(2):142-147
DOI:10.4103/0971-6866.142858  PMID:25400341
  1,337 146 -
Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR ® Identifiler™ kit in a Bhil Tribe Population from Gujarat state, India
Ramesh R Chaudhari, MS Dahiya
April-June 2014, 20(2):148-152
DOI:10.4103/0971-6866.142879  PMID:25400342
  1,383 97 -
CASE REPORTS
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature
Daipayan Chatterjee
April-June 2014, 20(2):206-208
DOI:10.4103/0971-6866.142914  PMID:25400355
  1,232 45 -
ORIGINAL ARTICLES
Insertion-deletions burden in copy number polymorphisms of the Tibetan population
Avinash M Veerappa, Sangeetha Vishweswaraiah, Kusuma Lingaiah, N Megha Murthy, Raviraj V Suresh, Keshava Belur, Nallur B Ramachandra, Tejaswini , Niveditha B Patel, PK Supriya Gowda
April-June 2014, 20(2):166-174
DOI:10.4103/0971-6866.142888  PMID:25400346
  1,152 92 -
FLT3 and NPM-1 mutations in a cohort of acute promyelocytic leukemia patients from India
Suchitra Swaminathan, Swati Garg, Manisha Madkaikar, Maya Gupta, Farah Jijina, Kanjaksha Ghosh
April-June 2014, 20(2):160-165
DOI:10.4103/0971-6866.142884  PMID:25400345
  1,129 92 -
Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis
Rajeev Kumar Pandey, Abid Ali, Amit Singh, Sukanya Gayan, Minu Bajpai
April-June 2014, 20(2):155-159
DOI:10.4103/0971-6866.142882  PMID:25400344
  1,120 95 -
CASE REPORTS
Constitutional mismatch repair deficiency syndrome: Do we know it?
C Ramachandra, Vasu Reddy Challa, Rachan Shetty
April-June 2014, 20(2):192-194
DOI:10.4103/0971-6866.142902  PMID:25400351
  1,140 47 -
Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation
Suwansh Sukhadeorao Meshram, Sheetal Nikose, Shraddha Jain, Amar Taksande
April-June 2014, 20(2):189-191
DOI:10.4103/0971-6866.142899  PMID:25400350
  1,095 57 -
LETTER TO THE EDITOR
Association of maternal folate with methylene tetrahydrofolate reductase polymorphism relationship in infants <3 months with Down syndrome
Pankaj Kumar Mohanty, Seema Kapoor
April-June 2014, 20(2):209-210
DOI:10.4103/0971-6866.142915  PMID:25400356
  808 65 -
ORIGINAL ARTICLES
Cost-effectiveness analysis for triple markers serum screening for Down's syndrome in Thai setting
Viroj Wiwanitkit
April-June 2014, 20(2):153-154
DOI:10.4103/0971-6866.142880  PMID:25400343
  742 79 -
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