Indian Journal of Human Genetics
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   Table of Contents
Coverpage
January-March 2013
Volume 19 | Issue 1
Page Nos. 1-116

Online since Tuesday, June 04, 2013

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EDITORIAL  

Prenatal diagnosis of common fetal aneuploidies: Scenario in India p. 1
V Baburao, Ajit C Gorakshakar
DOI:10.4103/0971-6866.112868  PMID:23901185
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REVIEW ARTICLE Top

Delivery systems for gene therapy p. 3
Shrikant Mali
DOI:10.4103/0971-6866.112870  PMID:23901186
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ORIGINAL ARTICLES Top

Nucleotide sequence analysis of NIPBL gene in Indian Cornelia de Lange syndrome cases p. 9
Shailesh Bajaj, Suvidya Ranade, Prakash Gambhir
PMID:23901187
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Rapid detection of chromosome X, Y, 13, 18, and 21 aneuploidies by primed in situ labeling/synthesis technique p. 14
Ashutosh Halder, Manish Jain, Isha Chaudhary
DOI:10.4103/0971-6866.112877  PMID:23901188
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Investigation of cytocrom c oxidase gene subunits expression on the Multiple sclerosis p. 18
Naeimeh Safavizadeh, Seyed Ali Rahmani, Mohamad Zaefizadeh
DOI:10.4103/0971-6866.112879  PMID:23901189
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Association of apolipoprotein B XbaI gene polymorphism and lipid profile in northern Indian obese p. 26
Neena Srivastava, Jai Prakash, Apurva Srivastava, Chandra Gupta Agarwal, Deep Chandra Pant, Balraj Mittal
DOI:10.4103/0971-6866.112880  PMID:23901190
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Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects p. 32
Ashish Fauzdar, Mohit Chowdhry, RN Makroo, Manoj Mishra, Priyanka Srivastava, Richa Tyagi, Preeti Bhadauria, Anita Kaul
DOI:10.4103/0971-6866.112881  PMID:23901191
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In silico experiment with an-antigen-toll like receptor-5 agonist fusion construct for immunogenic application to Helicobacter pylori p. 43
Mohamad Ali Haghighi, Ashraf Mohabati Mobarez, Ali Hatef Salmanian, Mohamad Moazeni, Mohamad Reza Zali, Mehdi Sadeghi, Jafar Amani
DOI:10.4103/0971-6866.112885  PMID:23901192
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Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing p. 54
Karina Bezerra Salomão, Christiane Maria Ayo, Valter Augusto Della-Rosa
DOI:10.4103/0971-6866.112888  PMID:23901193
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Association of interleukin-4 and interleukin-17F polymorphisms in periodontitis in Dravidian ethnicity p. 58
Nidhi Jain, Rosamma Joseph, Shabeesh Balan, R Arun, Moinak Banerjee
DOI:10.4103/0971-6866.112891  PMID:23901194
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Distribution of CC-chemokine receptor-5-∆32 allele among the tribal and caste population of Vidarbha region of Maharashtra state p. 65
Arvind B Chavhan, Santosh S Pawar, Rajusing G Jadhao, Kishor G Patil
DOI:10.4103/0971-6866.112894  PMID:23901195
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The determination of Q192R polymorphism of paraoxonase 1 by using non-toxic substrate p-nitrophenylacetate p. 71
MR Mogarekar, Seema S Chawhan
DOI:10.4103/0971-6866.112897  PMID:23901196
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BRIEF REPORT Top

Polymerase chain reaction optimization for amplification of Guanine-Cytosine rich templates using buccal cell DNA p. 78
C. H. W. M. R. Chandrasekara Bhagya, WS Wijesundera Sulochana, N Perera Hemamali
DOI:10.4103/0971-6866.112898  PMID:23901197
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CASE REPORTS Top

Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature p. 84
Fatemeh Hadipour, Peymaneh Sarkheil, Mehrdad Noruzinia, Zahra Hadipour, Taghi Baghdadi, Yousef Shafeghati
DOI:10.4103/0971-6866.112906  PMID:23901198
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Tracheal agenesis with broncho-esophageal fistula in VACTERL / TACRD association p. 87
Suresh R. S. Mandrekar, Sangeeta Amoncar, R. G. W Pinto
DOI:10.4103/0971-6866.112910  PMID:23901199
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Malignant infantile osteopetrosis p. 90
Kalenahalli Jagadish Kumar, Kasi Bandaru, Sathya Narayana Prashanth, Sangaraju Mamatha
DOI:10.4103/0971-6866.112911  PMID:23901200
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Tuberous sclerosis with rhabdomyoma p. 93
V Ajay, Vikram Singhal, Vardhelli Venkateshwarlu, SM Rajesh
DOI:10.4103/0971-6866.112912  PMID:23901201
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A novel deletion cluster at 13q14.2-q21.33 in an 80-year man with late onset leukemia: Clinical and molecular findings p. 96
Kiran Kumar, Sujit Maiti, Christina A Castellani, Richard O'Reilly, Shiva M Singh
DOI:10.4103/0971-6866.112916  PMID:23901202
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Short stature and an interesting association Highly accessed article p. 101
Latha Magatha Sneha, Kishore Thanasegarapandian, Venkataraman Paramasivam, Julius Xavier Scott
DOI:10.4103/0971-6866.112919  PMID:23901203
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MICrocephaly, disproportionate pontine and cerebellar hypoplasia syndrome: A clinico-radiologic phenotype linked to calcium/calmodulin-dependent serine protein kinase gene mutation p. 104
Rashid Saleem, Gururaj Setty, Nahin Hussain
DOI:10.4103/0971-6866.112921  PMID:23901204
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A case of bilateral tibial hemimelia type VIIa p. 108
Selvakumar Chinnakkannan, Rashmi Ranjan Das, K Rughmini, Sufath Ahmed
DOI:10.4103/0971-6866.112924  PMID:23901205
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Triple X Egyptian woman and a Down's syndrome offspring p. 111
Faeza Abdel Mogib El-Dahtory
DOI:10.4103/0971-6866.112925  PMID:23901206
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Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case p. 113
Anand Pai, Mohammad Shakir
DOI:10.4103/0971-6866.112928  PMID:23901207
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LETTER TO THE EDITOR Top

Duchenne muscular dystrophy: Advances in molecular appraoch p. 116
Afaf Benitto, Khalil Hamzi, Mohammed Itri, Ilham Slassi, Sellama Nadifi
DOI:10.4103/0971-6866.112931  PMID:23901208
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