Indian Journal of Human Genetics
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   Table of Contents - Current issue
Coverpage
April-June 2014
Volume 20 | Issue 2
Page Nos. 99-210

Online since Tuesday, October 14, 2014

Accessed 1,228 times.

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EDITORIAL  

Methylenetetrahydrofolatereductase C677T polymorphism and folate metabolism in human health p. 99
Babu Rao Vundinti
DOI:10.4103/0971-6866.142840  
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REVIEW ARTICLES Top

Guidelines for screening, diagnosis and management of hemoglobinopathies Highly accessed article p. 101
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
DOI:10.4103/0971-6866.142841  
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Genetics in psychiatry p. 120
Shreekantiah Umesh, Shamshul Haque Nizamie
DOI:10.4103/0971-6866.142845  
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Mammalian non-classical major histocompatibility complex I and its receptors: Important contexts of gene, evolution, and immunity p. 129
BM Pratheek, Tapas K Nayak, Subhransu S Sahoo, Prafulla K Mohanty, Soma Chattopadhyay, Ntiya G Chakraborty, Subhasis Chattopadhyay
DOI:10.4103/0971-6866.142855  
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ORIGINAL ARTICLES Top

Methylenetetrahydrofolate reductase polymorphism is not risk factor for Down syndrome in North India p. 142
Vandana Rai, Upendra Yadav, Pradeep Kumar, Sushil Kumar Yadav
DOI:10.4103/0971-6866.142858  
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Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR ® Identifiler™ kit in a Bhil Tribe Population from Gujarat state, India p. 148
Ramesh R Chaudhari, MS Dahiya
DOI:10.4103/0971-6866.142879  
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Cost-effectiveness analysis for triple markers serum screening for Down's syndrome in Thai setting p. 153
Viroj Wiwanitkit
DOI:10.4103/0971-6866.142880  
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Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis p. 155
Rajeev Kumar Pandey, Abid Ali, Amit Singh, Sukanya Gayan, Minu Bajpai
DOI:10.4103/0971-6866.142882  
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FLT3 and NPM-1 mutations in a cohort of acute promyelocytic leukemia patients from India p. 160
Suchitra Swaminathan, Swati Garg, Manisha Madkaikar, Maya Gupta, Farah Jijina, Kanjaksha Ghosh
DOI:10.4103/0971-6866.142884  
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Insertion-deletions burden in copy number polymorphisms of the Tibetan population p. 166
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
DOI:10.4103/0971-6866.142888  
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Prevalence of genetic variants associated with cardiovascular disease risk and drug response in the Southern Indian population of Kerala Highly accessed article p. 175
Lakshmi Mahadevan, Ancy Yesudas, PK Sajesh, S Revu, Prasanna Kumar, Devi Santhosh, Sam Santhosh, JM Sashikumar, VK Gopalakrishnan, Joji Boben, Changanamkandath Rajesh
DOI:10.4103/0971-6866.142896  
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CASE REPORTS Top

Ectopia cilia with pedigree analysis: Second case report in the world p. 185
Tarang Goyal, Anupam Varshney, SK Bakshi
DOI:10.4103/0971-6866.142897  
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Fetal valproate syndrome p. 187
Parmarth G Chandane, Ira Shah
DOI:10.4103/0971-6866.142898  
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Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation p. 189
Suwansh Sukhadeorao Meshram, Sheetal Nikose, Shraddha Jain, Amar Taksande
DOI:10.4103/0971-6866.142899  
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Constitutional mismatch repair deficiency syndrome: Do we know it? p. 192
C Ramachandra, Vasu Reddy Challa, Rachan Shetty
DOI:10.4103/0971-6866.142902  
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Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex) p. 195
Suresh R. S. Mandrekar, Sangeeta Amoncar, Siddhartha Banaulikar, Vishal Sawant, R. G. W. Pinto
DOI:10.4103/0971-6866.142906  
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First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis p. 199
Abbas Sahami, Nourkhoda Sadeghifard, Alireza Monsef, Hadi Peyman
DOI:10.4103/0971-6866.142911  
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Phenotypical characterization of 13q deletion syndrome: Report of two cases p. 203
Eiman Bagherizadeh, Yousef Shafaghati, Fatemeh Hadipour, Farkhondeh Behjati
DOI:10.4103/0971-6866.142912  
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Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature p. 206
Daipayan Chatterjee
DOI:10.4103/0971-6866.142914  
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LETTER TO THE EDITOR Top

Association of maternal folate with methylene tetrahydrofolate reductase polymorphism relationship in infants <3 months with Down syndrome p. 209
Pankaj Kumar Mohanty, Seema Kapoor
DOI:10.4103/0971-6866.142915  
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