Indian Journal of Human Genetics
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   Table of Contents
Coverpage
May-August 2012
Volume 18 | Issue 2
Page Nos. 145-270

Online since Saturday, September 08, 2012

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EDITORIALS  

Neural tube defects: A need for population-based prevention program p. 145
Shubha Phadke, Meenal Agarwal
DOI:10.4103/0971-6866.100747  PMID:23162285
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Micro mapping the frequencies of beta thalassemia and sickle cell anemia in India: A way forward to plan control strategies p. 148
Reena Das
DOI:10.4103/0971-6866.100748  PMID:23162286
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REVIEW ARTICLES Top

Stem cells: A potential regenerative future in dentistry p. 150
Sumit Narang, Nidhi Sehgal
DOI:10.4103/0971-6866.100749  PMID:23162287
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Toll-like receptors in autoimmunity with special reference to systemic lupus erythematosus p. 155
Vandana D Pradhan, Swaptagni Das, Prathamesh Surve, Kanjaksha Ghosh
DOI:10.4103/0971-6866.100750  PMID:23162288
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ORIGINAL ARTICLES Top

Rubinstein-taybi syndrome: Clinical profile of 11 patients and review of literature p. 161
Suresh Kumar, Renu Suthar, Inusha Panigrahi, Ram K Marwaha
DOI:10.4103/0971-6866.100751  PMID:23162289
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Prevalence and hematological profile of β-thalassemia and sickle cell anemia in four communities of Surat city p. 167
Dipal S Bhukhanvala, Smita M Sorathiya, Avani P Shah, Ankur G Patel, Snehalata C Gupte
DOI:10.4103/0971-6866.100752  PMID:23162290
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Association of microsatellite instability and chronic obstructive pulmonary disorder in isocyanate-exposed population of Bhopal p. 172
Protiti Bose, Rashmi Bathri
DOI:10.4103/0971-6866.100754  PMID:23162291
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Effect of maternal Tp53 gene G412C polymorphism on neural tube defects: A study from North India p. 177
Jyoti Arora, Kallur N Saraswathy, Roumi Deb
DOI:10.4103/0971-6866.100757  PMID:23162292
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Chromosomal abnormalities and hormonal disorders of primary amenorrhea patients in Egypt p. 183
Faeza El-Dahtory
DOI:10.4103/0971-6866.100758  PMID:23162293
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Genetic and environmental determinants of menstrual characteristics p. 187
Shayesteh Jahanfar
DOI:10.4103/0971-6866.100759  PMID:23162294
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Molecular epidemiology of β-thalassemia in Pakistan: Far reaching implications p. 193
Saqib H Ansari, Tahir S Shamsi, Mushtaq Ashraf, Tasneem Farzana, Muneera Bohray, Kousar Perveen, Sajida Erum, Iqra Ansari, Muhammad Nadeem Ahmed, Masood Ahmed, Faizan Raza
DOI:10.4103/0971-6866.100762  PMID:23162295
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Cytogenetic abnormalities in 222 infertile men with azoospermia and oligospermia in Iran: Report and review p. 198
Mohammad T Akbari, F Behjati, GR Pourmand, F Akbari Asbagh, M Ataei Kachoui
DOI:10.4103/0971-6866.100764  PMID:23162296
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Discerning non-disjunction in down syndrome patients by means of GluK1-(AGAT) n and D21S2055-(GATA) n microsatellites on chromosome 21 p. 204
Ghosh Debarati, Sinha Swagata, Chatterjee Anindita, Nandagopal Krishnadas
DOI:10.4103/0971-6866.100769  PMID:23162297
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The study of gene GJB2/DFNB1 causing deafness in humans by linkage analysis from district Peshawar p. 217
Zafar Ali, Masroor Ellahi Babar, Jamil Ahmad, Sajjad Ali Shah
DOI:10.4103/0971-6866.100771  PMID:23162298
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Lack of association between the G-660C polymorphism in the dopamine transporter gene (SLC6A3) and schizophrenia in the Iranian population p. 222
Ali M Foroughmand, Hamid Galehdari, Bentalhoda Tirband Dastgerdi, Saeed Reza Khatami, Maryam Haidari
DOI:10.4103/0971-6866.100773  PMID:23162299
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Adjusted classification for ultrasound scoring index for antenatal detection of fetal trisomy p. 226
Viroj Wiwanitkit
DOI:10.4103/0971-6866.100775  PMID:23162300
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BRIEF REPORT Top

An investigation of Ph 1 chromosome in chronic myeloid leukemia patients with different treatment modalities and hematological features p. 229
Koushik Chattopadhyay, Bibhas Kar
DOI:10.4103/0971-6866.100778  PMID:23162301
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CASE REPORTS Top

Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation p. 233
Karippoth Mohandas Nair, Peter Lohse, Sheela Nampoothiri
DOI:10.4103/0971-6866.100776  PMID:23162302
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Smith-Lemli-Opitz-syndrome p. 235
Rachana Gedam, Ira Shah, Uma Ali, Alpana Ohri
DOI:10.4103/0971-6866.100779  PMID:23162303
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A familial deletion 4q syndrome: An outcome of a paracentric inversion p. 238
Meena Lall, Ratna Puri, Pushpa Saviour, Ishwar Verma
DOI:10.4103/0971-6866.100780  PMID:23162304
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46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male Highly accessed article p. 241
Serap T Onrat, Zafer Söylemez, Muhsin Elmas
DOI:10.4103/0971-6866.100785  PMID:23162305
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Mosaic triple X syndrome in a female with primary amenorrhea p. 246
A Venkateshwari, K Srimanjari, A Srilekha, Ashrafunnisa Begum, M Sujatha, T Sunitha, Pratibha Nallari, A Jyothy
DOI:10.4103/0971-6866.100790  PMID:23162306
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Genetic counseling in carriers of reciprocal translocations involving two autosomes p. 250
Bahareh Pourjafari, Hamid Pour-Jafari, Marzieh Farimani, Safieh Ghahramani, Ebrahim Kamrani Saleh
DOI:10.4103/0971-6866.100802  PMID:23162307
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Waardenburg syndrome: A rare genetic disorder, a report of two cases p. 254
Sudesh Kumar, Kiran Rao
DOI:10.4103/0971-6866.100804  PMID:23162308
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Unusual manifestation of Marden-walker syndrome p. 256
Amar M Taksande, KY Vilhekar
DOI:10.4103/0971-6866.100798  PMID:23162309
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Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome p. 259
Rosamma Joseph, Sameera G Nath
DOI:10.4103/0971-6866.100793  PMID:23162310
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A case of Kartagener's syndrome: Importance of early diagnosis and treatment p. 263
Sanjay Gupta, Kumud K Handa, Ravi R Kasliwal, Pankaj Bajpai
DOI:10.4103/0971-6866.100787  PMID:23162311
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LETTERS TO THE EDITOR Top

An unusual clonal cytogenetic abnormality with t(15;17)(p11;q21) in a patient with severe aplastic anemia p. 268
Sanjeev K Sharma, Narendra Agrawal, Sonal Jain, Mohit Chowdhry, Pawan K Singh, Tulika Seth, Pravas Mishra, Manoranjan Mahapatra, Seema Tyagi, Haraprasad Pati
DOI:10.4103/0971-6866.100782  PMID:23162312
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Honey, chromosomal breakage and fanconi anemia p. 269
Somsri Wiwanitkit, Viroj Wiwanitkit
DOI:10.4103/0971-6866.100783  PMID:23162313
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Large scale meta-analysis of genetic studies in ischemic stroke: Five genes involving 152,297 individuals p. 270
Amit Kumar, Pradeep Kumar, Jitendra K Sahu
DOI:10.4103/0971-6866.100786  PMID:23162314
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