Indian Journal of Human Genetics
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   2013| April-June  | Volume 19 | Issue 2  
    Online since August 5, 2013

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Proteus syndrome: Clinical profile of six patients and review of literature
Suresh Kumar Angurana, Renu Suthar Angurana, Inusha Panigrahi, Ram Kumar Marwaha
April-June 2013, 19(2):202-206
DOI:10.4103/0971-6866.116117  PMID:24019623
  3,532 49 -
Human leukocyte antigen alleles, genotypes and haplotypes frequencies in renal transplant donors and recipients from West Central India
Jaina S Patel, Manisha M Patel, Prakash G Koringa, Tejas M Shah, Amrutlal K Patel, Ajai K Tripathi, Anila Mathew, Mohan M Rajapurkar, Chaitanya G Joshi
April-June 2013, 19(2):219-232
DOI:10.4103/0971-6866.116122  PMID:24019626
  2,185 71 1
Association between pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections disease and tumor necrosis factor-α gene−308 g/a, −850 c/t polymorphisms in 4-12-year-old children in Adana/Turkey
H Umit Luleyap, Dilge Onatoglu, M Bertan Yilmaz, Davut Alptekin, Aysegul Y Tahiroglu, Salih Cetiner, Ayfer Pazarbasi, Ilker Unal, Ayse Avci, Gamze Comertpay
April-June 2013, 19(2):196-201
DOI:10.4103/0971-6866.116116  PMID:24019622
  2,069 21 1
Birth defects in India: Hidden truth, need for urgent attention
Rinku Sharma
April-June 2013, 19(2):125-129
DOI:10.4103/0971-6866.116101  PMID:24019610
  1,924 121 1
Etiology and genetic factors in clefts of lip and/or palate reported at children's hospital, Lahore, Pakistan
Muhammad Yaqoob, Farrukh Mahmood, Ghazala Hanif, Saima Mansoor Bugvi, Muhammad Afzal Sheikh
April-June 2013, 19(2):136-143
DOI:10.4103/0971-6866.116103  PMID:24019612
  1,701 45 1
Micro-RNAs in IVF outcome
Saeid Ghorbian, Ahmad Poursadegh Zonouzi
April-June 2013, 19(2):273-273
DOI:10.4103/0971-6866.116110  PMID:24019635
  1,605 27 -
Unique pattern of mutations in β-thalassemia patients in Western Uttar Pradesh
Ajay F Christopher, Anita Kumari, Sunali Chaudhary, Sandhya Hora, Ziledar Ali, Satish C Agrawal
April-June 2013, 19(2):207-212
DOI:10.4103/0971-6866.116119  PMID:24019624
  1,511 84 -
CD14 C-159T polymorphism and its association with chronic lung diseases: A pilot study on isocyanate exposed population of Central India
Protiti Bose, Rashmi Bathri, Sajal De, KK Maudar
April-June 2013, 19(2):188-195
DOI:10.4103/0971-6866.116124  PMID:24019621
  1,538 51 1
Children with isolated growth hormone deficiency: Empty sella versus normal sella
Nagwa Abdallah Ismail, Nermeen Salah Eldin Metwaly, Fatma Ahmed El-Moguy, Mona Hassan Hafez, Soha M. Abd El Dayem, Tarek Mohamed Farid
April-June 2013, 19(2):130-135
DOI:10.4103/0971-6866.116102  PMID:24019611
  1,510 35 -
Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India
Neetha John, Moka Rajasekhar, Katta Mohan Girisha, Podila Satya Venkata Narasimha Sharma, Puthiya Mundyat Gopinath
April-June 2013, 19(2):165-170
DOI:10.4103/0971-6866.116115  PMID:24019617
  1,466 56 -
Sclerosterosis (Truswell-Hansen disease)
S Deepak Amalnath, M Vivekanandan
April-June 2013, 19(2):270-272
DOI:10.4103/0971-6866.116109  PMID:24019634
  1,348 44 -
Analysis of methionine synthase reductase polymorphism (A66G) in Indian Muslim population
Vandana Rai, Upendra Yadav, Pradeep Kumar, Sushil Kumar Yadav
April-June 2013, 19(2):183-187
DOI:10.4103/0971-6866.116123  PMID:24019620
  1,322 53 1
The effect of FokI vitamin D receptor polymorphism on bone mineral density in Jordanian perimenopausal women
Raed M Kanan
April-June 2013, 19(2):233-238
DOI:10.4103/0971-6866.116125  PMID:24019627
  1,305 40 3
A case of Kartagener's syndrome: Importance of early diagnosis and treatment
Sanjay Gupta, Kumud K Handa, Ravi R Kasliwal, Pankaj Bajpai
April-June 2013, 19(2):266-269
DOI:10.4103/0971-6866.116107  PMID:24019633
  1,279 31 -
Analysis of cytotoxic T-lymphocyte-associated antigen-4 and MMP-9 genes' methylation and their expression profiles with risk of non-alcoholic fatty liver disease
Dor Mohammad Kordi Tamandani, Mohammad Hashemi, Sara Shafiepour
April-June 2013, 19(2):144-149
DOI:10.4103/0971-6866.116106  PMID:24019613
  1,267 37 1
Comparison of in-vitro and in-vivo response to fetal hemoglobin production and γ-mRNA expression by hydroxyurea in Hemoglobinopathies
Khushnooma Italia, Farah Jijina, Rashid Merchant, Suchitra Swaminathan, Anita Nadkarni, Maya Gupta, Kanjaksha Ghosh, Roshan Colah
April-June 2013, 19(2):251-258
  1,236 38 -
Genetic and environmental effects on age at menarche, and its relationship with reproductive health in twins
Shayesteh Jahanfar, Munn-Sann Lye, Isthrinayagy S Krishnarajah
April-June 2013, 19(2):245-250
DOI:10.4103/0971-6866.116127  PMID:24019629
  1,234 38 1
Angiotensin II type 1 receptor A1166C gene polymorphism and essential hypertension in Calabar and Uyo cities, Nigeria
Mary Esien Kooffreh, Chiaka Ijeoma Anumudu, Roseline Duke, Elza Cletus Okpako, P Lava Kumar
April-June 2013, 19(2):213-218
DOI:10.4103/0971-6866.116120  PMID:24019625
  1,234 32 -
Molecular aberration studies in cases of idiopathic mental retardation: An update
Dhanjit Kumar Das
April-June 2013, 19(2):123-124
DOI:10.4103/0971-6866.116100  PMID:24019609
  1,156 72 -
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study
Farmaditya E. P. Mundhofir, Willy M Nillesen, Bregje W. M. Van Bon, Dominique Smeets, Rolph Pfundt, Gaby van de Ven-Schobers, Martina Ruiterkamp-Versteeg, Tri I Winarni, Ben C. J. Hamel, Helger G Yntema, Sultana M. H. Faradz
April-June 2013, 19(2):171-178
  1,185 35 -
Large scale meta-analysis of genetic studies in ischemic stroke: Five genes involving 152,297 individuals
Khalil Hamzi, Bréhima Diakité, Amal Tazzite, Sellama Nadifi
April-June 2013, 19(2):273-274
DOI:10.4103/0971-6866.116112  PMID:24019636
  1,154 17 -
Haptoglobin2-2 phenotype is an additional risk factor of retinopathy in type 2 diabetes mellitus
Mukund R Mogarekar, Mahesh H Hampe
April-June 2013, 19(2):154-158
DOI:10.4103/0971-6866.116111  PMID:24019615
  1,092 54 1
Early diagnosis of co-existent ß-thalassemia and alkaptonuria
Moushumi Lodh, Joshi A Kerketta
April-June 2013, 19(2):259-261
DOI:10.4103/0971-6866.116104  PMID:24019631
  1,112 25 -
Derivative chromosome 11 in a child resulting from a complex rearrangement involving chromosomes 3, 6 and 11 in father: Significance of parental karyotyping
Prabhat Ranjan, Kundanbala Desai, Shailaja Gada Saxena
April-June 2013, 19(2):262-265
DOI:10.4103/0971-6866.116105  PMID:24019632
  1,096 35 -
Association between PRO12ALA polymorphism of the PPAR-γ2 gene and type 2 diabetes mellitus in Iranian patients
Azadeh Motavallian, Sasan Andalib, Golnaz Vaseghi, Hamid Mirmohammad-Sadeghi, Masoud Amini
April-June 2013, 19(2):239-244
DOI:10.4103/0971-6866.116126  PMID:24019628
  1,090 41 1
Body composition in Egyptian Turner syndrome girls
Moushira Erfan Zaki, Hanan H Afifi
April-June 2013, 19(2):150-153
DOI:10.4103/0971-6866.116108  PMID:24019614
  1,058 24 -
Measuring opportunity for natural selection: Adaptation among two linguistically cognate tribes inhabiting two eco-situations of North-East India
Maitreyee Sarma
April-June 2013, 19(2):159-164
DOI:10.4103/0971-6866.116113  PMID:24019616
  976 34 -
Small ubiquitin-like modifier 4 M55V polymorphism is not associated with diabetic nephropathy in Iranian type 2 diabetes patients
Farhad Shahsavar, Mehrzad Jafarzadeh, Alireza Azargoon, Mehdi Hedayati, Behnam Asadifar
April-June 2013, 19(2):179-182
DOI:10.4103/0971-6866.116121  PMID:24019619
  789 3 -
Effect of the novel Moroccan BRCA1 and BRCA2 frameshift mutations
Amal Tazzite, Hassan Jouhadi, Khalil Hamzi, Abdellatif Benider, Sellama Nadifi
April-June 2013, 19(2):274-275
DOI:10.4103/0971-6866.116114  PMID:24019637
  709 21 -
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