The HUGO Journal

Official Journal of the Human Genome Organisation

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  1. Research Article

    Germ-line variation at a functional p53 binding site increases susceptibility to breast cancer development

    Multiple lines of evidence suggest regulatory variation to play an important role in phenotypic evolution and disease development, but few regulatory polymorphisms have been characterized genetically and molec...

    Jianjun Liu, Kartiki Vasant Desai, Yuqing Li, Shakeela Banu, Yew Kok Lee, Dianbo Qu, Tuomas Heikkinen, Kirsimari Aaltonen, Taru A. Muranen, Tasneem Shabbir Kajiji, Carine Bonnard, Kristiina Aittomäki, Karl von Smitten, Carl Blomqvist, John L. Hopper, Melissa C. Southey…

    The HUGO Journal 2010 3:9138

    Published on: 13 April 2010

  2. Research Article

    Clinical and pathological characteristics of Chinese patients with BRCA related breast cancer

    Breast cancers related to BRCA mutations are associated with particular biological features. Here we report the clinical and pathological characteristics of breast cancer in Chinese women with and without BRCA mu...

    Ava Kwong, L. P. Wong, H. N. Wong, F. B. F. Law, E. K. O. Ng, Y. H. Tang, W. K. Chan, D. T. K. Suen, C. Choi, L. S. Ho, K. H. Kwan, M. Poon, T. T. Wong, K. Chan, S. W. W. Chan, M. W. L. Ying…

    The HUGO Journal 2010 3:9136

    Published on: 10 April 2010

  3. Research Article

    Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

    Massive parallel sequencing has revolutionized the search for pathogenic variants in the human genome, but for routine diagnosis, re-sequencing of the complete human genome in a large cohort of patients is sti...

    Hao Hu, Klaus Wrogemann, Vera Kalscheuer, Andreas Tzschach, Hugues Richard, Stefan A. Haas, Corinna Menzel, Melanie Bienek, Guy Froyen, Martine Raynaud, Hans Van Bokhoven, Jamel Chelly, Hilger Ropers and Wei Chen

    The HUGO Journal 2010 3:9137

    Published on: 25 March 2010

    The Erratum to this article has been published in The HUGO Journal 2010 3:9142

  4. Research Article

    Genetic determinants of immune-response to a polysaccharide vaccine for typhoid

    Differences in immunological response among vaccine recipients are determined both by their genetic differences and environmental factors. Knowledge of genetic determinants of immunological response to a vacci...

    Partha P. Majumder, Herman F. Staats, Neeta Sarkar-Roy, Binuja Varma, Trina Ghosh, Sujit Maiti, K. Narayanasamy, Carol C. Whisnant, James L. Stephenson and Diane K. Wagener

    The HUGO Journal 2010 3:9134

    Published on: 11 March 2010

  5. Concepts & Hypotheses

    Targeted genome-wide investigation identifies novel SNPs associated with diabetic nephropathy

    Loci contributing to complex disease have been identified by focusing on genome-wide scans utilising non-synonymous single nucleotide polymorphisms (nsSNPs). We employed Illumina’s HNS12 BeadChip (13,917 high-...

    Amy Jayne McKnight, Diane Currie, Chris C. Patterson, Alexander P. Maxwell and Damian G. Fogarty

    The HUGO Journal 2010 3:9133

    Published on: 24 February 2010

  6. Research Article

    Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes

    Thalassaemia and sickle cell disease have been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. To create a nationa...

    S. Sinha, M. L. Black, S. Agarwal, R. Colah, R. Das, K. Ryan, M. Bellgard and A. H. Bittles

    The HUGO Journal 2010 3:9132

    Published on: 10 February 2010

  7. Perspective

    Germs, genomics and global public health

    Scientific and technological advances derived from the genomics revolution have a central role to play in dealing with continuing infectious disease threats in the developing world caused by emerging and re-em...

    T. Pang

    The HUGO Journal 2009 3:9131

    Published on: 5 November 2009

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