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Prognostics and diagnostics/biomarkers

This section considers studies on the use of genomic markers to diagnose, classify, or predict the risk or prognosis of human disease or genetic disorders as well as the analysis of the structure and function of genes and chromosomes and the role of genetic mutations and cytogenetic changes in human genetic disorders.

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  1. Increased understanding of the variability in normal breast biology will enable us to identify mechanisms of breast cancer initiation and the origin of different subtypes, and to better predict breast cancer r...

    Authors: Vilde D Haakensen, Ole Christian Lingjærde, Torben Lüders, Margit Riis, Aleix Prat, Melissa A Troester, Marit M Holmen, Jan Ole Frantzen, Linda Romundstad, Dina Navjord, Ida K Bukholm, Tom B Johannesen, Charles M Perou, Giske Ursin, Vessela N Kristensen, Anne-Lise Børresen-Dale…

    Citation: BMC Medical Genomics 2011 4:77

    Content type: Research article

    Published on:

  2. A wide variety of high-throughput microarray platforms have been used to identify molecular targets associated with biological and clinical tumor phenotypes by comparing samples representing distinct pathologi...

    Authors: Waleska K Martins, Gustavo H Esteves, Otávio M Almeida, Gisele G Rezze, Gilles Landman, Sarah M Marques, Alex F Carvalho, Luiz F L Reis, João P Duprat and Beatriz S Stolf

    Citation: BMC Medical Genomics 2011 4:76

    Content type: Research article

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  3. Insulin resistance (IR) is accompanied by chronic low grade systemic inflammation, obesity, and deregulation of total body energy homeostasis. We induced inflammation in adipose and liver tissues in vitro in orde...

    Authors: Ewa Szalowska, Martijn Dijkstra, Marieke GL Elferink, Desiree Weening, Marcel de Vries, Marcel Bruinenberg, Annemieke Hoek, Han Roelofsen, Geny MM Groothuis and Roel J Vonk

    Citation: BMC Medical Genomics 2011 4:71

    Content type: Research article

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  4. Massively parallel sequencing technologies have brought an enormous increase in sequencing throughput. However, these technologies need to be further improved with regard to reproducibility and applicability t...

    Authors: Martin Kerick, Melanie Isau, Bernd Timmermann, Holger Sültmann, Ralf Herwig, Sylvia Krobitsch, Georg Schaefer, Irmgard Verdorfer, Georg Bartsch, Helmut Klocker, Hans Lehrach and Michal R Schweiger

    Citation: BMC Medical Genomics 2011 4:68

    Content type: Research article

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  5. Conventional high-grade osteosarcoma is a primary malignant bone tumor, which is most prevalent in adolescence. Survival rates of osteosarcoma patients have not improved significantly in the last 25 years. Aim...

    Authors: Marieke L Kuijjer, Heidi M Namløs, Esther I Hauben, Isidro Machado, Stine H Kresse, Massimo Serra, Antonio Llombart-Bosch, Pancras CW Hogendoorn, Leonardo A Meza-Zepeda, Ola Myklebost and Anne-Marie Cleton-Jansen

    Citation: BMC Medical Genomics 2011 4:66

    Content type: Research article

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  6. It is widely accepted that atherosclerosis and inflammation are intimately linked. Monocytes play a key role in both of these processes and we hypothesized that activation of inflammatory pathways in monocytes...

    Authors: Suthesh Sivapalaratnam, Rosienne Farrugia, Max Nieuwdorp, Cordelia F Langford, Rachel T van Beem, Stephanie Maiwald, Jaap Jan Zwaginga, Arief Gusnanto, Nicholas A Watkins, Mieke D Trip and Willem H Ouwehand

    Citation: BMC Medical Genomics 2011 4:64

    Content type: Research article

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  7. Transgenic mouse tumor models have the advantage of facilitating controlled in vivo oncogenic perturbations in a common genetic background. This provides an idealized context for generating transcriptome-based di...

    Authors: Heather G LaBreche, Joseph R Nevins and Erich Huang

    Citation: BMC Medical Genomics 2011 4:61

    Content type: Research article

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  8. Gene expression signatures developed to measure the activity of oncogenic signaling pathways have been used to dissect the heterogeneity of tumor samples and to predict sensitivity to various cancer drugs that...

    Authors: Jennifer A Freedman, Christina K Augustine, Angelica M Selim, Kirsten C Holshausen, Zhengzheng Wei, Katherine A Tsamis, David S Hsu, Holly K Dressman, William T Barry, Douglas S Tyler and Joseph R Nevins

    Citation: BMC Medical Genomics 2011 4:58

    Content type: Research article

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  9. Pilocytic Astrocytomas (PAs) are common low-grade central nervous system malignancies for which few recurrent and specific genetic alterations have been identified. In an effort to better understand the molecu...

    Authors: Hrishikesh Deshmukh, Jinsheng Yu, Jahangheer Shaik, Tobey J MacDonald, Arie Perry, Jacqueline E Payton, David H Gutmann, Mark A Watson and Rakesh Nagarajan

    Citation: BMC Medical Genomics 2011 4:57

    Content type: Research article

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  10. Metastasis is the number one cause of cancer deaths. Expression microarrays have been widely used to study metastasis in various types of cancer. We hypothesize that a meta-analysis of publicly available gene ...

    Authors: Marla H Daves, Susan G Hilsenbeck, Ching C Lau and Tsz-Kwong Man

    Citation: BMC Medical Genomics 2011 4:56

    Content type: Research article

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  11. Genomic tests are available to predict breast cancer recurrence and to guide clinical decision making. These predictors provide recurrence risk scores along with a measure of uncertainty, usually a confidence ...

    Authors: Fathi Elloumi, Zhiyuan Hu, Yan Li, Joel S Parker, Margaret L Gulley, Keith D Amos and Melissa A Troester

    Citation: BMC Medical Genomics 2011 4:54

    Content type: Research article

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  12. Glioblastoma is a complex multifactorial disorder that has swift and devastating consequences. Few genes have been consistently identified as prognostic biomarkers of glioblastoma survival. The goal of this st...

    Authors: Nicola VL Serão, Kristin R Delfino, Bruce R Southey, Jonathan E Beever and Sandra L Rodriguez-Zas

    Citation: BMC Medical Genomics 2011 4:49

    Content type: Research article

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  13. Gastric cancer samples obtained by histologic macrodissection contain a relatively high stromal content that may significantly influence gene expression profiles. Differences between the gene expression signat...

    Authors: Hark Kyun Kim, Joseph Kim, Susie Korolevich, Il Ju Choi, Chang Hee Kim, David J Munroe and Jeffrey E Green

    Citation: BMC Medical Genomics 2011 4:48

    Content type: Research article

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  14. Cancer shows a great diversity in its clinical behavior which cannot be easily predicted using the currently available clinical or pathological markers. The identification of pathways associated with lymph nod...

    Authors: Anna EL Coló, Ana CQ Simoes, André L Carvalho, Camila M Melo, Lucas Fahham, Luiz P Kowalski, Fernando A Soares, Eduardo J Neves, Luiz FL Reis and Alex F Carvalho

    Citation: BMC Medical Genomics 2011 4:33

    Content type: Research article

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  15. Several DNA microarray based expression signatures for the different clinically relevant thyroid tumor entities have been described over the past few years. However, reproducibility of these signatures is gene...

    Authors: Klemens Vierlinger, Markus H Mansfeld, Oskar Koperek, Christa Nöhammer, Klaus Kaserer and Friedrich Leisch

    Citation: BMC Medical Genomics 2011 4:30

    Content type: Research article

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  16. Postmenopausal hormone therapy (HT) influences endogenous hormone concentrations and increases the risk of breast cancer. Gene expression profiling may reveal the mechanisms behind this relationship.

    Authors: Marit Waaseth, Karina S Olsen, Charlotta Rylander, Eiliv Lund and Vanessa Dumeaux

    Citation: BMC Medical Genomics 2011 4:29

    Content type: Research article

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  17. Diagnostic accuracy of lymphoma, a heterogeneous cancer, is essential for patient management. Several ancillary tests including immunophenotyping, and sometimes cytogenetics and PCR are required to aid histolo...

    Authors: To Ha Loi, Anna Campain, Adam Bryant, Tim J Molloy, Mark Lutherborrow, Jennifer Turner, Yee Hwa Jean Yang and David DF Ma

    Citation: BMC Medical Genomics 2011 4:27

    Content type: Research article

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  18. Alterations in gene expression in peripheral blood cells have been shown to be sensitive to the presence and extent of coronary artery disease (CAD). A non-invasive blood test that could reliably assess obstru...

    Authors: Michael R Elashoff, James A Wingrove, Philip Beineke, Susan E Daniels, Whittemore G Tingley, Steven Rosenberg, Szilard Voros, William E Kraus, Geoffrey S Ginsburg, Robert S Schwartz, Stephen G Ellis, Naheem Tahirkheli, Ron Waksman, John McPherson, Alexandra J Lansky and Eric J Topol

    Citation: BMC Medical Genomics 2011 4:26

    Content type: Research article

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  19. Proteomic technologies applied for profiling human biofluids and blood cells are considered to reveal new biomarkers of exposure or provide insights into novel mechanisms of adaptation.

    Authors: Freek G Bouwman, Baukje de Roos, Isabel Rubio-Aliaga, L Katie Crosley, Susan J Duthie, Claus Mayer, Graham Horgan, Abigael C Polley, Carolin Heim, Susan LM Coort, Chris T Evelo, Francis Mulholland, Ian T Johnson, Ruan M Elliott, Hannelore Daniel and Edwin CM Mariman

    Citation: BMC Medical Genomics 2011 4:24

    Content type: Research article

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  20. Myelodysplastic Syndromes (MDSS) are pre-leukemic disorders with increasing incident rates worldwide, but very limited treatment options. Little is known about small regulatory RNAs and how they contribute to ...

    Authors: Dominik Beck, Steve Ayers, Jianguo Wen, Miriam B Brandl, Tuan D Pham, Paul Webb, Chung-Che Chang and Xiaobo Zhou

    Citation: BMC Medical Genomics 2011 4:19

    Content type: Research article

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  21. Paclitaxel is a microtubule-stabilizing drug that has been commonly used in treating cancer. Due to genetic heterogeneity within patient populations, therapeutic response rates often vary. Here we used the NCI...

    Authors: Lawson Eng, Irada Ibrahim-zada, Hamdi Jarjanazi, Sevtap Savas, Mehran Meschian, Kathleen I Pritchard and Hilmi Ozcelik

    Citation: BMC Medical Genomics 2011 4:18

    Content type: Research article

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  22. Colon cancer has been classically described by clinicopathologic features that permit the prediction of outcome only after surgical resection and staging.

    Authors: Andre Loboda, Michael V Nebozhyn, James W Watters, Carolyne A Buser, Peter Martin Shaw, Pearl S Huang, Laura Van't Veer, Rob AEM Tollenaar, David B Jackson, Deepak Agrawal, Hongyue Dai and Timothy J Yeatman

    Citation: BMC Medical Genomics 2011 4:9

    Content type: Research article

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  23. Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothor...

    Authors: Jeff A Klomp, David Petillo, Natalie M Niemi, Karl J Dykema, Jindong Chen, Ximing J Yang, Annika Sääf, Peter Zickert, Markus Aly, Ulf Bergerheim, Magnus Nordenskjöld, Sophie Gad, Sophie Giraud, Yves Denoux, Laurent Yonneau, Arnaud Méjean…

    Citation: BMC Medical Genomics 2010 3:59

    Content type: Research article

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  24. Urothelial carcinoma (UC) can arise at any location along the urothelial tract, including the urethra, bladder, ureter, or renal pelvis. Although tumors arising in these various locations have similar morpholo...

    Authors: Zhongfa Zhang, Kyle A Furge, Ximing J Yang, Bin T Teh and Donna E Hansel

    Citation: BMC Medical Genomics 2010 3:58

    Content type: Research article

    Published on:

  26. Immunization of BALB/c mice with a recombinant adenovirus expressing Mycobacterium tuberculosis (M. tuberculosis) antigen 85A (Ad85A) protects against aerosol challenge with M. tuberculosis only when it is admini...

    Authors: Lian N Lee, Dilair Baban, Edward O Ronan, Jiannis Ragoussis, Peter CL Beverley and Elma Z Tchilian

    Citation: BMC Medical Genomics 2010 3:46

    Content type: Research article

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  27. HSP90 may be a favorable target for investigational therapy in breast cancer. In fact, the HSP90 inhibitor, 17AAG, currently has entered in phase II clinical trials as an anticancer agent in breast and other t...

    Authors: Magdalena Zajac, Gonzalo Gomez, Javier Benitez and Beatriz Martínez-Delgado

    Citation: BMC Medical Genomics 2010 3:44

    Content type: Research article

    Published on:

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BMC Medical Genomics

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