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  1. Content type: Research article

    Cerebral palsy (CP) is an upper motor neuron disease that results in a progressive movement disorder. Secondary to the neurological insult, muscles from CP patients often become spastic. Spastic muscle is char...

    Authors: Lucas R Smith, Eva Pontén, Yvette Hedström, Samuel R Ward, Henry G Chambers, Shankar Subramaniam and Richard L Lieber

    Citation: BMC Medical Genomics 2009 2:44

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  2. Content type: Research article

    Genomic copy number alteration (CNA) that are recurrent across multiple samples often harbor critical genes that can drive either the initiation or the progression of cancer disease. Up to now, most researcher...

    Authors: Philippe Broët, Patrick Tan, Marco Alifano, Sophie Camilleri-Broët and Sylvia Richardson

    Citation: BMC Medical Genomics 2009 2:43

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  3. Content type: Research article

    Meningiomas may occur either as familial tumors in two distinct disorders, familial multiple meningioma and neurofibromatosis 2 (NF2), or sporadically, as either single or multiple tumors in individuals with n...

    Authors: Yiping Shen, Fabio Nunes, Anat Stemmer-Rachamimov, Marianne James, Gayatry Mohapatra, Scott Plotkin, Rebecca A Betensky, David A Engler, Jennifer Roy, Vijaya Ramesh and James F Gusella

    Citation: BMC Medical Genomics 2009 2:42

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  4. Content type: Research article

    Hyperglycaemia in diabetes mellitus (DM) alters gene expression regulation in various organs and contributes to long term vascular and renal complications. We aimed to generate novel renal genome-wide gene tra...

    Authors: Yaomin Hu, Pamela J Kaisaki, Karène Argoud, Steven P Wilder, Karin J Wallace, Peng Y Woon, Christine Blancher, Lise Tarnow, Per-Henrik Groop, Samy Hadjadj, Michel Marre, Hans-Henrik Parving, Martin Farrall, Roger D Cox, Mark Lathrop, Nathalie Vionnet…

    Citation: BMC Medical Genomics 2009 2:41

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  5. Content type: Research article

    We have previously shown that the Gene expression Grade Index (GGI) was able to identify two subtypes of estrogen receptor (ER)-positive tumors that were associated with statistically distinct clinical outcome...

    Authors: Christine Desmedt, Anita Giobbie-Hurder, Patrick Neven, Robert Paridaens, Marie-Rose Christiaens, Ann Smeets, Françoise Lallemand, Benjamin Haibe-Kains, Giuseppe Viale, Richard D Gelber, Martine Piccart and Christos Sotiriou

    Citation: BMC Medical Genomics 2009 2:40

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  6. Content type: Research article

    Gastric cancers frequently show chromosomal alterations which can cause activation of oncogenes, and/or inactivation of tumour suppressor genes. In gastric cancer several chromosomal regions are described to b...

    Authors: Tineke E Buffart, Marianne Tijssen, Jamila El-Bchiri, Alex Duval, Mark A van de Wiel, Bauke Ylstra, Gerrit A Meijer and Beatriz Carvalho

    Citation: BMC Medical Genomics 2009 2:39

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  7. Content type: Research article

    At present, there are no clinically reliable disease markers for chronic fatigue syndrome. DNA chip microarray technology provides a method for examining the differential expression of mRNA from a large number...

    Authors: John W Gow, Suzanne Hagan, Pawel Herzyk, Celia Cannon, Peter O Behan and Abhijit Chaudhuri

    Citation: BMC Medical Genomics 2009 2:38

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  8. Content type: Research article

    Within estrogen receptor-positive breast cancer (ER+ BC), the expression levels of proliferation-related genes can define two clinically distinct molecular subtypes. When treated with adjuvant tamoxifen, those...

    Authors: Sherene Loi, Christos Sotiriou, Benjamin Haibe-Kains, Francoise Lallemand, Nelly M Conus, Martine J Piccart, Terence P Speed and Grant A McArthur

    Citation: BMC Medical Genomics 2009 2:37

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  9. Content type: Research article

    The presence of MLL rearrangements in acute leukemia results in a complex number of biological modifications that still remain largely unexplained. Armstrong et al. proposed MLL rearrangement positive ALL as a di...

    Authors: Andrea Zangrando, Marta Campo Dell'Orto, Geertruy te Kronnie and Giuseppe Basso

    Citation: BMC Medical Genomics 2009 2:36

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  10. Content type: Research article

    MiRNAs play important roles in cellular control and in various disease states such as cancers, where they may serve as markers or possibly even therapeutics. Identifying the whole repertoire of miRNAs and unde...

    Authors: Sanne Nygaard, Anders Jacobsen, Morten Lindow, Jens Eriksen, Eva Balslev, Henrik Flyger, Niels Tolstrup, Søren Møller, Anders Krogh and Thomas Litman

    Citation: BMC Medical Genomics 2009 2:35

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  11. Content type: Research article

    Cisplatin and carboplatin are the primary first-line therapies for the treatment of ovarian cancer. However, resistance to these platinum-based drugs occurs in the large majority of initially responsive tumors...

    Authors: Meng Li, Curt Balch, John S Montgomery, Mikyoung Jeong, Jae Hoon Chung, Pearlly Yan, Tim HM Huang, Sun Kim and Kenneth P Nephew

    Citation: BMC Medical Genomics 2009 2:34

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  12. Content type: Research article

    The use of gene expression in venous blood either as a pharmacodynamic marker in clinical trials of drugs or as a diagnostic test requires knowledge of the variability in expression over time in healthy volunt...

    Authors: Chris Karlovich, Guillemette Duchateau-Nguyen, Andrea Johnson, Patricia McLoughlin, Mercidita Navarro, Carole Fleurbaey, Lori Steiner, Michel Tessier, Tracy Nguyen, Monika Wilhelm-Seiler and John P Caulfield

    Citation: BMC Medical Genomics 2009 2:33

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  13. Content type: Research article

    It is well known that a persistent infection with high-risk human papillomavirus (hrHPV) is causally involved in the development of squamous cell carcinomas of the uterine cervix (CxSCCs) and a subset of SCCs ...

    Authors: Saskia M Wilting, Serge J Smeets, Peter JF Snijders, Wessel N van Wieringen, Mark A van de Wiel, Gerrit A Meijer, Bauke Ylstra, C René Leemans, Chris JLM Meijer, Ruud H Brakenhoff, Boudewijn JM Braakhuis and Renske DM Steenbergen

    Citation: BMC Medical Genomics 2009 2:32

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  14. Content type: Research article

    Large-scale screening methods are widely used to reveal cancer-specific DNA methylation markers. We previously identified non-satellite 3.3-kb repeats associated with facioscapulohumeral muscular dystrophy (FS...

    Authors: Alexey N Katargin, Larissa S Pavlova, Fjodor L Kisseljov and Natalia P Kisseljova

    Citation: BMC Medical Genomics 2009 2:30

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  15. Content type: Commentary

    In order to eliminate health disparities in the United States, more efforts are needed to address the breadth of social issues directly contributing to the healthy divide observed across racial and ethnic grou...

    Authors: Edward Ramos and Charles Rotimi

    Citation: BMC Medical Genomics 2009 2:29

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  16. Content type: Research article

    Many critical maturational processes take place in the human brain during postnatal development. In particular, the prefrontal cortex does not reach maturation until late adolescence and this stage is associat...

    Authors: Laura W Harris, Helen E Lockstone, Phillipp Khaitovich, Cynthia Shannon Weickert, Maree J Webster and Sabine Bahn

    Citation: BMC Medical Genomics 2009 2:28

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  17. Content type: Research article

    Using array comparative genomic hybridization (aCGH), a large number of deleted genomic regions have been identified in human cancers. However, subsequent efforts to identify target genes selected for inactiva...

    Authors: Aslaug Aamodt Muggerud, Henrik Edgren, Maija Wolf, Kristine Kleivi, Emelyne Dejeux, Jörg Tost, Therese Sørlie and Olli Kallioniemi

    Citation: BMC Medical Genomics 2009 2:26

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  18. Content type: Research article

    Paragangliomas of the head and neck are highly vascular and usually clinically benign tumors arising in the paraganglia of the autonomic nervous system. A significant number of cases (10–50%) are proven to be ...

    Authors: Erik F Hensen, Jelle J Goeman, Jan Oosting, Andel GL Van der Mey, Pancras CW Hogendoorn, Cor WRJ Cremers, Peter Devilee and Cees J Cornelisse

    Citation: BMC Medical Genomics 2009 2:25

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  19. Content type: Research article

    Astrocyte activation is a characteristic response to injury in the central nervous system, and can be either neurotoxic or neuroprotective, while the regulation of both roles remains elusive.

    Authors: Tatiana Nikolskaya, Yuri Nikolsky, Tatiana Serebryiskaya, Svetlana Zvereva, Eugene Sviridov, Zoltan Dezso, Eugene Rahkmatulin, Richard J Brennan, Nick Yankovsky, Sanjoy K Bhattacharya, Olga Agapova, M Rosario Hernandez and Valery I Shestopalov

    Citation: BMC Medical Genomics 2009 2:24

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  20. Content type: Research article

    Gene expression profiling of formalin-fixed, paraffin-embedded (FFPE) samples represents a valuable approach for advancing oncology diagnostics and enhancing retrospective clinical studies; however, at present...

    Authors: Grazyna Fedorowicz, Steve Guerrero, Thomas D Wu and Zora Modrusan

    Citation: BMC Medical Genomics 2009 2:23

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  21. Content type: Technical advance

    Microorganisms have been associated with many types of human diseases; however, a significant number of clinically important microbial pathogens remain to be discovered.

    Authors: Christopher G Duncan, Rebecca J Leary, Jimmy Cheng-Ho Lin, Jordan Cummins, Chunhui Di, Carl F Schaefer, Tian-Li Wang, Gregory J Riggins, Jennifer Edwards, Darell Bigner, Levy Kopelovich, Bert Vogelstein, Kenneth W Kinzler, Victor E Velculescu and Hai Yan

    Citation: BMC Medical Genomics 2009 2:22

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  22. Content type: Research article

    DNA copy number alterations are frequently observed in ovarian cancer, but it remains a challenge to identify the most relevant alterations and the specific causal genes in those regions.

    Authors: Peter M Haverty, Lawrence S Hon, Joshua S Kaminker, John Chant and Zemin Zhang

    Citation: BMC Medical Genomics 2009 2:21

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  23. Content type: Research article

    Apoptosis is a critical biological phenomenon, executed under the guidance of the Apoptotic Machinery (AM), which allows the physiologic elimination of terminally differentiated, senescent or diseased cells. B...

    Authors: Cinzia Di Pietro, Marco Ragusa, Davide Barbagallo, Laura R Duro, Maria R Guglielmino, Alessandra Majorana, Rosario Angelica, Marina Scalia, Luisa Statello, Loredana Salito, Luisa Tomasello, Salvo Pernagallo, Salvo Valenti, Vito D'Agostino, Patrizio Triberio, Igor Tandurella…

    Citation: BMC Medical Genomics 2009 2:20

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  24. Content type: Research article

    Tamoxifen (TAM) is a well characterized breast cancer drug and selective estrogen receptor modulator (SERM) which also has been associated with a small increase in risk for uterine cancers. TAM's partial agoni...

    Authors: Joshua C Kwekel, Agnes L Forgacs, Lyle D Burgoon, Kurt J Williams and Timothy R Zacharewski

    Citation: BMC Medical Genomics 2009 2:19

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  25. Content type: Research article

    Subcortical white matter hyperintensity on magnetic resonance imaging (MRI) of the brain, referred to as leukoaraiosis, is associated with increased risk of stroke and dementia. Hypertension may contribute to ...

    Authors: Jennifer A Smith, Stephen T Turner, Yan V Sun, Myriam Fornage, Reagan J Kelly, Thomas H Mosley, Clifford R Jack, Iftikhar J Kullo and Sharon LR Kardia

    Citation: BMC Medical Genomics 2009 2:16

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  26. Content type: Research article

    Low levels of oxygen in tissues, seen in situations such as chronic lung disease, necrotic tumors, and high altitude exposures, initiate a signaling pathway that results in active transcription of genes posses...

    Authors: Jennifer S Guimbellot, Stephen W Erickson, Tapan Mehta, Hui Wen, Grier P Page, Eric J Sorscher and Jeong S Hong

    Citation: BMC Medical Genomics 2009 2:15

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  27. Content type: Research article

    Pterygium is a common ocular surface disease characterized by fibrovascular invasion of the cornea and is sight-threatening due to astigmatism, tear film disturbance, or occlusion of the visual axis. However, ...

    Authors: Louis Tong, Jaime Chew, Henry Yang, Leonard PK Ang, Donald TH Tan and Roger W Beuerman

    Citation: BMC Medical Genomics 2009 2:14

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  28. Content type: Research article

    The methods used for sample selection and processing can have a strong influence on the expression values obtained through microarray profiling. Laser capture microdissection (LCM) provides higher specificity ...

    Authors: Eric W Klee, Sibel Erdogan, Lori Tillmans, Farhad Kosari, Zhifu Sun, Dennis A Wigle, Ping Yang, Marie C Aubry and George Vasmatzis

    Citation: BMC Medical Genomics 2009 2:13

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  29. Content type: Research article

    Gulf War Illness (GWI) remains a serious health consequence for at least 11,000 veterans of the first Gulf War in the early 1990s. Our understanding of the health consequences that resulted remains inadequate,...

    Authors: Toni Whistler, Mary Ann Fletcher, William Lonergan, Xiao-R Zeng, Jin-Mann Lin, Arthur LaPerriere, Suzanne D Vernon and Nancy G Klimas

    Citation: BMC Medical Genomics 2009 2:12

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  30. Content type: Research article

    Aberrant DNA methylation of CpG islands of cancer-related genes is among the earliest and most frequent alterations in cancerogenesis and might be of value for either diagnosing cancer or evaluating recurrent ...

    Authors: Ada Piepoli, Rosa Cotugno, Giuseppe Merla, Annamaria Gentile, Bartolomeo Augello, Michele Quitadamo, Antonio Merla, Anna Panza, Massimo Carella, Rosalia Maglietta, Annarita D'Addabbo, Nicola Ancona, Saverio Fusilli, Francesco Perri and Angelo Andriulli

    Citation: BMC Medical Genomics 2009 2:11

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  31. Content type: Research article

    Novel tuberculosis (TB) vaccines recently tested in humans have been designed to boost immunity induced by the current vaccine, Mycobacterium bovis Bacille Calmette-Guérin (BCG). Because BCG vaccination is used e...

    Authors: Helen A Fletcher, Alana Keyser, Mark Bowmaker, Peter C Sayles, Gilla Kaplan, Greg Hussey, Adrian VS Hill and Willem A Hanekom

    Citation: BMC Medical Genomics 2009 2:10

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  32. Content type: Research article

    While standard reductionist approaches have provided some insights into specific gene polymorphisms and molecular pathways involved in disease pathogenesis, our understanding of complex traits such as atherosc...

    Authors: Mark Barton Frank, Shirley Wang, Amita Aggarwal, Nicholas Knowlton, Kaiyu Jiang, Yanmin Chen, Ryan McKee, Brad Chaser, Timothy McGhee, Jeanette Osban and James N Jarvis

    Citation: BMC Medical Genomics 2009 2:9

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  33. Content type: Technical advance

    A major challenge facing DNA copy number (CN) studies of tumors is that most banked samples with extensive clinical follow-up information are Formalin-Fixed Paraffin Embedded (FFPE). DNA from FFPE samples gene...

    Authors: Yuker Wang, Victoria EH Carlton, George Karlin-Neumann, Ronald Sapolsky, Li Zhang, Martin Moorhead, Zhigang C Wang, Andrea L Richardson, Robert Warren, Axel Walther, Melissa Bondy, Aysegul Sahin, Ralf Krahe, Musaffe Tuna, Patricia A Thompson, Paul T Spellman…

    Citation: BMC Medical Genomics 2009 2:8

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  34. Content type: Research article

    Circadian (diurnal) rhythm is an integral part of the physiology of the body; specifically, sleep, feeding behavior and metabolism are tightly linked to the light-dark cycle dictated by earth's rotation.

    Authors: Andrey Loboda, Walter K Kraft, Bernard Fine, Jeffrey Joseph, Michael Nebozhyn, Chunsheng Zhang, Yudong He, Xia Yang, Christopher Wright, Mark Morris, Ira Chalikonda, Mark Ferguson, Valur Emilsson, Amy Leonardson, John Lamb, Hongyue Dai…

    Citation: BMC Medical Genomics 2009 2:7

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  35. Content type: Correspondence

    The Gene Ontology Project provides structured controlled vocabularies for molecular biology that can be used for the functional annotation of genes and gene products. In a collaboration between the Gene Ontolo...

    Authors: Erika Feltrin, Stefano Campanaro, Alexander D Diehl, Elisabeth Ehler, Georgine Faulkner, Jennifer Fordham, Chiara Gardin, Midori Harris, David Hill, Ralph Knoell, Paolo Laveder, Lorenza Mittempergher, Alessandra Nori, Carlo Reggiani, Vincenzo Sorrentino, Pompeo Volpe…

    Citation: BMC Medical Genomics 2009 2:6

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  36. Content type: Research article

    Hepatocellular carcinoma (HCC) is one of the most common cancers worldwide and the second cancer killer in China. The initiation and malignant transformation of cancer result from accumulation of genetic chang...

    Authors: Hui Dong, Xijin Ge, Yan Shen, Linlei Chen, Yalin Kong, Hongyi Zhang, Xiaobo Man, Liang Tang, Hong Yuan, Hongyang Wang, Guoping Zhao and Weirong Jin

    Citation: BMC Medical Genomics 2009 2:5

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  37. Content type: Research article

    Serum protein profiling seems promising for early detection of breast cancer. However, the approach is also criticized, partly because of difficulties in validating discriminatory proteins. This study's aim is...

    Authors: Annemieke WJ van Winden, Marie-Christine W Gast, Jos H Beijnen, Emiel JTh Rutgers, Diederick E Grobbee, Petra HM Peeters and Carla H van Gils

    Citation: BMC Medical Genomics 2009 2:4

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  38. Content type: Research article

    Gene expression patterns provide a detailed view of cellular functions. Comparison of profiles in disease vs normal conditions provides insights into the processes underlying disease progression. However, avai...

    Authors: Burak Kutlu, David Burdick, David Baxter, Joanne Rasschaert, Daisy Flamez, Decio L Eizirik, Nils Welsh, Nathan Goodman and Leroy Hood

    Citation: BMC Medical Genomics 2009 2:3

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  39. Content type: Review

    The production of peroxide and superoxide is an inevitable consequence of aerobic metabolism, and while these particular 'reactive oxygen species' (ROSs) can exhibit a number of biological effects, they are no...

    Authors: Douglas B Kell

    Citation: BMC Medical Genomics 2009 2:2

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  40. Content type: Research article

    Genome wide association studies have been hugely successful in identifying disease risk variants, yet most variants do not lead to coding changes and how variants influence biological function is usually unknown.

    Authors: Graham A Heap, Gosia Trynka, Ritsert C Jansen, Marcel Bruinenberg, Morris A Swertz, Lotte C Dinesen, Karen A Hunt, Cisca Wijmenga, David A vanHeel and Lude Franke

    Citation: BMC Medical Genomics 2009 2:1

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  41. Content type: Research article

    Reliability of real-time PCR (RT-qPCR) data is dependent on the use of appropriate reference gene(s) for normalization. To date, no validated reference genes have been reported for normalizing gene expression ...

    Authors: Anna P Pilbrow, Leigh J Ellmers, Michael A Black, Christine S Moravec, Wendy E Sweet, Richard W Troughton, A Mark Richards, Chris M Frampton and Vicky A Cameron

    Citation: BMC Medical Genomics 2008 1:64

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  42. Content type: Research article

    The existence of a radiation bystander effect, in which non-irradiated cells respond to signals from irradiated cells, is now well established. It raises concerns for the interpretation of risks arising from e...

    Authors: Shanaz A Ghandhi, Benjamin Yaghoubian and Sally A Amundson

    Citation: BMC Medical Genomics 2008 1:63

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  43. Content type: Research article

    Recent advances in whole-genome association studies (WGASs) for human cancer risk are beginning to provide the part lists of low-penetrance susceptibility genes. However, statistical analysis in these studies ...

    Authors: Núria Bonifaci, Antoni Berenguer, Javier Díez, Oscar Reina, Ignacio Medina, Joaquín Dopazo, Víctor Moreno and Miguel Angel Pujana

    Citation: BMC Medical Genomics 2008 1:62

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  44. Content type: Research article

    Elevated plasma cholesterol promotes the formation of atherosclerotic lesions in which monocyte-derived lipid-laden macrophages are frequently found. To analyze, if circulating monocytes already show increased...

    Authors: Sandy Mosig, Knut Rennert, Petra Büttner, Siegfried Krause, Dieter Lütjohann, Muhidien Soufi, Regine Heller and Harald Funke

    Citation: BMC Medical Genomics 2008 1:60

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  45. Content type: Research article

    We performed a time-course microarray experiment to define the transcriptional response to carboplatin in vitro, and to correlate this with clinical outcome in epithelial ovarian cancer (EOC). RNA was isolated fr...

    Authors: Panagiotis A Konstantinopoulos, Elena Fountzilas, Kamana Pillay, Luiz F Zerbini, Towia A Libermann, Stephen A Cannistra and Dimitrios Spentzos

    Citation: BMC Medical Genomics 2008 1:59

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