Indian Journal of Human Genetics
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   Table of Contents
Coverpage
May-August 2011
Volume 17 | Issue 2
Page Nos. 43-113

Online since Monday, October 17, 2011

Accessed 43,899 times.

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EDITORIALS  

Chromosomal aberrations in hematological malignancies: A guide to the identification of novel oncogenes p. 43
Babu Rao Vundinti, Kanjaksha Ghosh
DOI:10.4103/0971-6866.86168  PMID:22090710
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Are mannose-binding lectin gene 2 (MBL2) polymorphisms and MBL deficiency associated with infections? p. 45
Vandana Pradhan, Ajit Gorakshakar
DOI:10.4103/0971-6866.86170  PMID:22090711
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REVIEW ARTICLE Top

Craniosynostosis genetics: The mystery unfolds Highly accessed article p. 48
Inusha Panigrahi
DOI:10.4103/0971-6866.86171  PMID:22090712
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ORIGINAL ARTICLES Top

Characterization of cryptic rearrangements, deletion, complex variants of PML, RARA in acute promyelocytic leukemia p. 54
Pratibha Kadam Amare, Chanda Baisane, Reena Nair, Hari Menon, Shripad Banavali, Sharayu Kabre, Sumit Gujral, P Subramaniam
DOI:10.4103/0971-6866.86174  PMID:22090713
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The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome p. 59
Osman Demirhan, Deniz Tastemir, Ramazan Günesacar, Ali Irfan Güzel, Davut Alptekin
DOI:10.4103/0971-6866.86176  PMID:22090714
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Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis p. 65
Zafar Ali, Masroor Ellahi Babar, Jamil Ahmad, Muhammad Zubair Yousaf, Muhammad Asif, Sajjad Ali Shah
DOI:10.4103/0971-6866.86178  PMID:22090715
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Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population p. 70
Pranathi Rao Pamuru, D V.N Maithili, Khalid Mohiuddin, Narasimhan Calambur, Pratibha Nallari
DOI:10.4103/0971-6866.86182  PMID:22090716
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Cytoprotective effect of honey against chromosomal breakage in fanconi anemia patients in vitro p. 77
Faeza Abdel Mogib El-Dahtory, Sohier Yahia
DOI:10.4103/0971-6866.86184  PMID:22090717
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Chromosomal abnormalities as a cause of recurrent abortions in Egypt p. 82
Faeza Abdel Mogib El-Dahtory
DOI:10.4103/0971-6866.86186  PMID:22090718
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BRIEF REPORTS Top

Association of cytotoxic T lymphocyte-associated antigen 4 gene single nucleotide polymorphism with type 1 diabetes mellitus in Madurai population of Southern India p. 85
Beatrice Philip, W Isabel
DOI:10.4103/0971-6866.86189  PMID:22090719
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G-C heterozygosis in mutS homolog2 as a risk factor to hereditary nonpolyposis colon cancer in the absence of a family medical history p. 90
Jorge Alfonso Arvayo-Zatarain, José Manuel Grijalva-Chon, Reina Castro-Longoria, Alejandro Varela-Romero
DOI:10.4103/0971-6866.86191  PMID:22090720
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CASE REPORTS Top

McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family p. 94
Massimiliano Chetta, Nenad Bukvic, Valeria Bafunno, Michelina Sarno, Rosario Magaldi, Gianpaolo Grilli, Vincenzo Bertozzi, Francesco Perfetto, Maurizio Margaglione
DOI:10.4103/0971-6866.86194  PMID:22090721
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A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review p. 97
Siham Chafai Elalaoui, Tajir Mariam, Ratbi Ilham, Doubaj Yassamine, Sefiani Abdelaziz
DOI:10.4103/0971-6866.86197  PMID:22090722
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Deletion of ABL/BCR on der(9) associated with severe basophilia p. 100
Shantashri Vaidya, Manisha Madkaikar, Kanjaksha Ghosh, Babu Rao Vundinti
DOI:10.4103/0971-6866.86198  PMID:22090723
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Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met) p. 104
Zoran Gucev, Nevenka Slavevska, Velibor Tasic, Nevenka Laban, Nada Pop-Jordanova, Dragan Danilovski, Jacqueline Woolf, Duncan Cole
DOI:10.4103/0971-6866.86199  PMID:22090724
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Early recurrent left atrial myxoma in a teenager with de novo mutation of Carney complex p. 108
Mila S Stajevic, Vladislav A Vukomanovic, Vladimir D Kuburovic, Slavisa M Djuricic
DOI:10.4103/0971-6866.86200  PMID:22090725
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Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18 p. 111
Eiman Bagherizadeh, Farkhondeh Behjati, Seyed Hoseinali Saberi, Yousef Shafeghati
DOI:10.4103/0971-6866.86201  PMID:22090726
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