Indian Journal of Human Genetics
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  Citation statistics : Table of Contents
   2011| May-August  | Volume 17 | Issue 2  
    Online since October 17, 2011

 
 
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BRIEF REPORTS
Association of cytotoxic T lymphocyte-associated antigen 4 gene single nucleotide polymorphism with type 1 diabetes mellitus in Madurai population of Southern India
Beatrice Philip, W Isabel
May-August 2011, 17(2):85-89
DOI:10.4103/0971-6866.86189  PMID:22090719
  7 1,427 33
ORIGINAL ARTICLES
Novel mutations in arrhythmogenic right ventricular cardiomyopathy from Indian population
Pranathi Rao Pamuru, D V.N Maithili, Khalid Mohiuddin, Narasimhan Calambur, Pratibha Nallari
May-August 2011, 17(2):70-76
DOI:10.4103/0971-6866.86182  PMID:22090716
  3 1,323 45
CASE REPORTS
Early recurrent left atrial myxoma in a teenager with de novo mutation of Carney complex
Mila S Stajevic, Vladislav A Vukomanovic, Vladimir D Kuburovic, Slavisa M Djuricic
May-August 2011, 17(2):108-110
DOI:10.4103/0971-6866.86200  PMID:22090725
  3 1,194 14
REVIEW ARTICLE
Craniosynostosis genetics: The mystery unfolds
Inusha Panigrahi
May-August 2011, 17(2):48-53
DOI:10.4103/0971-6866.86171  PMID:22090712
  3 4,431 76
ORIGINAL ARTICLES
Characterization of cryptic rearrangements, deletion, complex variants of PML, RARA in acute promyelocytic leukemia
Pratibha Kadam Amare, Chanda Baisane, Reena Nair, Hari Menon, Shripad Banavali, Sharayu Kabre, Sumit Gujral, P Subramaniam
May-August 2011, 17(2):54-58
DOI:10.4103/0971-6866.86174  PMID:22090713
  2 1,955 45
CASE REPORTS
Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18
Eiman Bagherizadeh, Farkhondeh Behjati, Seyed Hoseinali Saberi, Yousef Shafeghati
May-August 2011, 17(2):111-113
DOI:10.4103/0971-6866.86201  PMID:22090726
  2 1,443 27
ORIGINAL ARTICLES
The first report described as an important study: The association of mannose-binding lectin gene 2 polymorphisms in children with down syndrome
Osman Demirhan, Deniz Tastemir, Ramazan Günesacar, Ali Irfan Güzel, Davut Alptekin
May-August 2011, 17(2):59-64
DOI:10.4103/0971-6866.86176  PMID:22090714
  1 1,139 25
Cytoprotective effect of honey against chromosomal breakage in fanconi anemia patients in vitro
Faeza Abdel Mogib El-Dahtory, Sohier Yahia
May-August 2011, 17(2):77-81
DOI:10.4103/0971-6866.86184  PMID:22090717
  1 2,161 24
Chromosomal abnormalities as a cause of recurrent abortions in Egypt
Faeza Abdel Mogib El-Dahtory
May-August 2011, 17(2):82-84
DOI:10.4103/0971-6866.86186  PMID:22090718
  1 1,094 42
CASE REPORTS
McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family
Massimiliano Chetta, Nenad Bukvic, Valeria Bafunno, Michelina Sarno, Rosario Magaldi, Gianpaolo Grilli, Vincenzo Bertozzi, Francesco Perfetto, Maurizio Margaglione
May-August 2011, 17(2):94-96
DOI:10.4103/0971-6866.86194  PMID:22090721
  1 2,433 21
A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review
Siham Chafai Elalaoui, Tajir Mariam, Ratbi Ilham, Doubaj Yassamine, Sefiani Abdelaziz
May-August 2011, 17(2):97-99
DOI:10.4103/0971-6866.86197  PMID:22090722
  - 1,170 19
BRIEF REPORTS
G-C heterozygosis in mutS homolog2 as a risk factor to hereditary nonpolyposis colon cancer in the absence of a family medical history
Jorge Alfonso Arvayo-Zatarain, José Manuel Grijalva-Chon, Reina Castro-Longoria, Alejandro Varela-Romero
May-August 2011, 17(2):90-93
DOI:10.4103/0971-6866.86191  PMID:22090720
  - 1,018 11
CASE REPORTS
Deletion of ABL/BCR on der(9) associated with severe basophilia
Shantashri Vaidya, Manisha Madkaikar, Kanjaksha Ghosh, Babu Rao Vundinti
May-August 2011, 17(2):100-103
DOI:10.4103/0971-6866.86198  PMID:22090723
  - 2,030 29
Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)
Zoran Gucev, Nevenka Slavevska, Velibor Tasic, Nevenka Laban, Nada Pop-Jordanova, Dragan Danilovski, Jacqueline Woolf, Duncan Cole
May-August 2011, 17(2):104-107
DOI:10.4103/0971-6866.86199  PMID:22090724
  - 1,545 13
ORIGINAL ARTICLES
Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis
Zafar Ali, Masroor Ellahi Babar, Jamil Ahmad, Muhammad Zubair Yousaf, Muhammad Asif, Sajjad Ali Shah
May-August 2011, 17(2):65-69
DOI:10.4103/0971-6866.86178  PMID:22090715
  - 1,771 34
EDITORIALS
Chromosomal aberrations in hematological malignancies: A guide to the identification of novel oncogenes
Babu Rao Vundinti, Kanjaksha Ghosh
May-August 2011, 17(2):43-44
DOI:10.4103/0971-6866.86168  PMID:22090710
  - 1,331 107
Are mannose-binding lectin gene 2 (MBL2) polymorphisms and MBL deficiency associated with infections?
Vandana Pradhan, Ajit Gorakshakar
May-August 2011, 17(2):45-47
DOI:10.4103/0971-6866.86170  PMID:22090711
  - 1,128 39
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