TY - JOUR AU - Freeman, J. L. AU - Perry, G. H. AU - Feuk, L. AU - Redon, R. AU - McCarroll, S. A. AU - Altshuler, D. M. PY - 2006 DA - 2006// TI - Copy number variation: new insights in genome diversity JO - Genome Res VL - 16 UR - https://doi.org/10.1101/gr.3677206 DO - 10.1101/gr.3677206 ID - Freeman2006 ER - TY - JOUR AU - Sebat, J. AU - Lakshmi, B. AU - Troge, J. AU - Alexander, J. AU - Young, J. AU - Lundin, P. PY - 2004 DA - 2004// TI - Large-scale copy number polymorphism in the human genome JO - Science VL - 305 UR - https://doi.org/10.1126/science.1098918 DO - 10.1126/science.1098918 ID - Sebat2004 ER - TY - JOUR AU - Redon, R. AU - Ishikawa, S. AU - Fitch, K. R. AU - Feuk, L. AU - Perry, G. H. AU - Andrews, T. D. PY - 2006 DA - 2006// TI - Global variation in copy number in the human genome JO - Nature VL - 444 UR - https://doi.org/10.1038/nature05329 DO - 10.1038/nature05329 ID - Redon2006 ER - TY - JOUR AU - Iafrate, a. J. AU - Feuk, L. AU - Rivera, M. N. AU - Listewnik, M. L. AU - Donahoe, P. K. AU - Qi, Y. PY - 2004 DA - 2004// TI - Detection of large-scale variation in the human genome JO - Nat Genet VL - 36 UR - https://doi.org/10.1038/ng1416 DO - 10.1038/ng1416 ID - Iafrate2004 ER - TY - JOUR AU - Shlien, A. AU - Malkin, D. PY - 2009 DA - 2009// TI - Copy number variations and cancer JO - Genome Med VL - 1 UR - https://doi.org/10.1186/gm62 DO - 10.1186/gm62 ID - Shlien2009 ER - TY - JOUR AU - Wain, L. V. AU - Armour, J. a. L. AU - Tobin, M. D. PY - 2009 DA - 2009// TI - Genomic copy number variation, human health, and disease JO - Lancet VL - 374 UR - https://doi.org/10.1016/S0140-6736(09)60249-X DO - 10.1016/S0140-6736(09)60249-X ID - Wain2009 ER - TY - JOUR AU - Zhang, F. AU - Gu, W. AU - Hurles, M. E. AU - Lupski, J. R. PY - 2009 DA - 2009// TI - Copy number variation in human health, disease, and evolution JO - Annu Rev Genomics Hum Genet VL - 10 UR - https://doi.org/10.1146/annurev.genom.9.081307.164217 DO - 10.1146/annurev.genom.9.081307.164217 ID - Zhang2009 ER - TY - JOUR AU - Fanciulli, M. AU - Petretto, E. AU - Aitman, T. J. PY - 2010 DA - 2010// TI - Gene copy number variation and common human disease JO - Clin Genet VL - 77 UR - https://doi.org/10.1111/j.1399-0004.2009.01342.x DO - 10.1111/j.1399-0004.2009.01342.x ID - Fanciulli2010 ER - TY - JOUR AU - Liu, W. AU - Sun, J. J. AU - Li, G. AU - Zhu, Y. AU - Zhang, S. AU - Kim, S. -. T. PY - 2009 DA - 2009// TI - Association of a germ-line copy number variation at 2p24.3 and risk for aggressive prostate cancer JO - Cancer Res VL - 69 UR - https://doi.org/10.1158/0008-5472.CAN-08-3151 DO - 10.1158/0008-5472.CAN-08-3151 ID - Liu2009 ER - TY - JOUR AU - Thean, L. F. AU - Loi, C. AU - Ho, K. S. AU - Koh, P. K. AU - Eu, K. W. AU - Cheah, P. Y. PY - 2010 DA - 2010// TI - Genome-wide scan identifies a copy number variable region at 3q26 that regulates PPM1L in APC mutation-negative familial colorectal cancer patients JO - Genes Chromosomes Cancer VL - 106 ID - Thean2010 ER - TY - JOUR AU - Petrij-Bosch, A. AU - Peelen, T. AU - Vliet, M. AU - Eijk, R. AU - Olmer, R. AU - Drüsedau, M. PY - 1997 DA - 1997// TI - BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients JO - Nat Genet VL - 17 UR - https://doi.org/10.1038/ng1197-341 DO - 10.1038/ng1197-341 ID - Petrij-Bosch1997 ER - TY - JOUR AU - Montagna, M. PY - 2003 DA - 2003// TI - Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families JO - Hum Mol Genet VL - 12 UR - https://doi.org/10.1093/hmg/ddg120 DO - 10.1093/hmg/ddg120 ID - Montagna2003 ER - TY - JOUR AU - Nørskov, M. S. AU - Frikke-Schmidt, R. AU - Bojesen, S. E. AU - Nordestgaard, B. G. AU - Loft, S. AU - Tybjærg-Hansen, A. PY - 2011 DA - 2011// TI - Copy number variation in glutathione-S-transferase T1 and M1 predicts incidence and 5-year survival from prostate and bladder cancer, and incidence of corpus uteri cancer in the general population JO - Pharmacogenomics J VL - 11 UR - https://doi.org/10.1038/tpj.2010.38 DO - 10.1038/tpj.2010.38 ID - Nørskov2011 ER - TY - JOUR AU - Diskin, S. J. AU - Hou, C. AU - Glessner, J. T. AU - Attiyeh, E. F. AU - Laudenslager, M. AU - Bosse, K. PY - 2009 DA - 2009// TI - Copy number variation at 1q21.1 associated with neuroblastoma JO - Nature VL - 459 UR - https://doi.org/10.1038/nature08035 DO - 10.1038/nature08035 ID - Diskin2009 ER - TY - JOUR PY - 2012 DA - 2012// TI - Comprehensive molecular portraits of human breast tumours JO - Nature VL - 490 UR - https://doi.org/10.1038/nature11412 DO - 10.1038/nature11412 ID - ref15 ER - TY - JOUR PY - 2012 DA - 2012// TI - Comprehensive molecular characterization of human colon and rectal cancer JO - Nature VL - 487 UR - https://doi.org/10.1038/nature11252 DO - 10.1038/nature11252 ID - ref16 ER - TY - JOUR PY - 2008 DA - 2008// TI - Comprehensive genomic characterization defines human glioblastoma genes and core pathways JO - Nature VL - 455 UR - https://doi.org/10.1038/nature07385 DO - 10.1038/nature07385 ID - ref17 ER - TY - JOUR PY - 2011 DA - 2011// TI - Integrated genomic analyses of ovarian carcinoma JO - Nature VL - 474 UR - https://doi.org/10.1038/nature10166 DO - 10.1038/nature10166 ID - ref18 ER - TY - JOUR PY - 2013 DA - 2013// TI - Comprehensive molecular characterization of clear cell renal cell carcinoma JO - Nature VL - 499 UR - https://doi.org/10.1038/nature12222 DO - 10.1038/nature12222 ID - ref19 ER - TY - JOUR AU - Kathiresan, S. AU - Voight, B. F. AU - Purcell, S. PY - 2009 DA - 2009// TI - Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants JO - Nat Genet VL - 41 UR - https://doi.org/10.1038/ng.327 DO - 10.1038/ng.327 ID - Kathiresan2009 ER - TY - JOUR AU - Abecasis, G. R. AU - Altshuler, D. AU - Auton, A. AU - Brooks, L. D. AU - Durbin, R. M. AU - Gibbs, R. A. PY - 2010 DA - 2010// TI - A map of human genome variation from population-scale sequencing JO - Nature VL - 467 UR - https://doi.org/10.1038/nature09534 DO - 10.1038/nature09534 ID - Abecasis2010 ER - TY - JOUR AU - Mills, R. E. AU - Walter, K. AU - Stewart, C. AU - Handsaker, R. E. AU - Chen, K. AU - Alkan, C. PY - 2011 DA - 2011// TI - Mapping copy number variation by population-scale genome sequencing JO - Nature VL - 470 UR - https://doi.org/10.1038/nature09708 DO - 10.1038/nature09708 ID - Mills2011 ER - TY - JOUR AU - Jakobsson, M. AU - Scholz, S. W. AU - Scheet, P. AU - Gibbs, J. R. AU - VanLiere, J. M. AU - Fung, H. -. C. PY - 2008 DA - 2008// TI - Genotype, haplotype and copy-number variation in worldwide human populations JO - Nature VL - 451 UR - https://doi.org/10.1038/nature06742 DO - 10.1038/nature06742 ID - Jakobsson2008 ER - TY - JOUR AU - Perry, G. H. AU - Ben-Dor, A. AU - Tsalenko, A. AU - Sampas, N. AU - Rodriguez-Revenga, L. AU - Tran, C. W. PY - 2008 DA - 2008// TI - The fine-scale and complex architecture of human copy-number variation JO - Am J Hum Genet VL - 82 UR - https://doi.org/10.1016/j.ajhg.2007.12.010 DO - 10.1016/j.ajhg.2007.12.010 ID - Perry2008 ER - TY - JOUR AU - Pinto, D. AU - Darvishi, K. AU - Shi, X. AU - Rajan, D. AU - Rigler, D. AU - Fitzgerald, T. PY - 2011 DA - 2011// TI - Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants JO - Nat Biotechnol VL - 29 UR - https://doi.org/10.1038/nbt.1852 DO - 10.1038/nbt.1852 ID - Pinto2011 ER - TY - JOUR AU - White, S. J. AU - Vissers, L. E. L. M. AU - Geurts Van Kessel, A. AU - Menezes, R. X. AU - Kalay, E. AU - Lehesjoki, A. E. PY - 2007 DA - 2007// TI - Variation of CNV distribution in five different ethnic populations JO - Cytogenet Genome Res VL - 118 UR - https://doi.org/10.1159/000106437 DO - 10.1159/000106437 ID - White2007 ER - TY - JOUR AU - Wang, K. AU - Li, M. AU - Hadley, D. AU - Liu, R. AU - Glessner, J. AU - Grant, S. F. PY - 2007 DA - 2007// TI - PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data JO - Genome Res VL - 17 UR - https://doi.org/10.1101/gr.6861907 DO - 10.1101/gr.6861907 ID - Wang2007 ER - TY - JOUR AU - Kim, J. AU - Hu, H. AU - Yim, S. AU - Bae, J. S. AU - Kim, S. PY - 2012 DA - 2012// TI - CNVRuler: a copy number variation-based case–control association analysis tool JO - Bioinformatics VL - 28 UR - https://doi.org/10.1093/bioinformatics/bts239 DO - 10.1093/bioinformatics/bts239 ID - Kim2012 ER - TY - JOUR AU - Rodriguez-Revenga, L. AU - Mila, M. AU - Rosenberg, C. AU - Lamb, A. AU - Lee, C. PY - 2007 DA - 2007// TI - Structural variation in the human genome: the impact of copy number variants on clinical diagnosis JO - Genet Med VL - 9 UR - https://doi.org/10.1097/GIM.0b013e318149e1e3 DO - 10.1097/GIM.0b013e318149e1e3 ID - Rodriguez-Revenga2007 ER - TY - JOUR AU - Conrad, D. F. AU - Pinto, D. AU - Redon, R. AU - Feuk, L. AU - Gokcumen, O. AU - Zhang, Y. PY - 2010 DA - 2010// TI - Origins and functional impact of copy number variation in the human genome JO - Nature VL - 464 UR - https://doi.org/10.1038/nature08516 DO - 10.1038/nature08516 ID - Conrad2010 ER - TY - JOUR AU - Kidd, J. M. AU - Newman, T. L. AU - Tuzun, E. AU - Kaul, R. AU - Eichler, E. E. PY - 2007 DA - 2007// TI - Population stratification of a common APOBEC gene deletion polymorphism JO - PLoS Genet VL - 3 UR - https://doi.org/10.1371/journal.pgen.0030063 DO - 10.1371/journal.pgen.0030063 ID - Kidd2007 ER - TY - JOUR AU - Nagy, R. AU - Sweet, K. AU - Eng, C. PY - 2004 DA - 2004// TI - Highly penetrant hereditary cancer syndromes JO - Oncogene VL - 23 UR - https://doi.org/10.1038/sj.onc.1207714 DO - 10.1038/sj.onc.1207714 ID - Nagy2004 ER - TY - JOUR AU - Lichtenstein, P. AU - Holm, N. V. AU - Verkasalo, P. K. AU - Iliadou, A. AU - Kaprio, J. AU - Koskenvuo, M. PY - 2000 DA - 2000// TI - Environmental and heritable factors in the causation of cancer JO - N Engl J Med VL - 343 UR - https://doi.org/10.1056/NEJM200007133430201 DO - 10.1056/NEJM200007133430201 ID - Lichtenstein2000 ER - TY - JOUR AU - Craddock, N. AU - Hurles, M. E. AU - Cardin, N. PY - 2010 DA - 2010// TI - Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls JO - Nature VL - 464 UR - https://doi.org/10.1038/nature08979 DO - 10.1038/nature08979 ID - Craddock2010 ER - TY - STD TI - World Cancer Report [http://globocan.iarc.fr/Pages/fact_sheets_population.aspx] UR - http://globocan.iarc.fr/Pages/fact_sheets_population.aspx ID - ref35 ER - TY - JOUR AU - Siegel, R. AU - Naishadham, D. AU - Jemal, A. PY - 2012 DA - 2012// TI - Cancer statistics, 2012 JO - CA Cancer J Clin VL - 62 UR - https://doi.org/10.3322/caac.20138 DO - 10.3322/caac.20138 ID - Siegel2012 ER - TY - JOUR AU - Bunyan, D. J. AU - Eccles, D. M. AU - Sillibourne, J. AU - Wilkins, E. AU - Thomas, N. S. AU - Shea-Simonds, J. PY - 2004 DA - 2004// TI - Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification JO - Br J Cancer VL - 91 UR - https://doi.org/10.1038/sj.bjc.6602121 DO - 10.1038/sj.bjc.6602121 ID - Bunyan2004 ER - TY - JOUR AU - Sapkota, Y. AU - Ghosh, S. AU - Lai, R. AU - Coe, B. P. AU - Cass, C. E. AU - Yasui, Y. PY - 2013 DA - 2013// TI - Germline DNA copy number aberrations identified as potential prognostic factors for breast cancer recurrence JO - PLoS One VL - 8 UR - https://doi.org/10.1371/journal.pone.0053850 DO - 10.1371/journal.pone.0053850 ID - Sapkota2013 ER - TY - JOUR AU - Bougeard, G. AU - Brugières, L. AU - Chompret, A. AU - Gesta, P. AU - Charbonnier, F. AU - Valent, A. PY - 2003 DA - 2003// TI - Screening for TP53 rearrangements in families with the Li-Fraumeni syndrome reveals a complete deletion of the TP53 gene JO - Oncogene VL - 22 UR - https://doi.org/10.1038/sj.onc.1206155 DO - 10.1038/sj.onc.1206155 ID - Bougeard2003 ER - TY - JOUR AU - Meur, N. AU - Martin, C. AU - Saugier-Veber, P. AU - Joly, G. AU - Lemoine, F. AU - Moirot, H. PY - 2004 DA - 2004// TI - Complete germline deletion of the STK11 gene in a family with Peutz-Jeghers syndrome JO - Eur J Hum Genet VL - 12 UR - https://doi.org/10.1038/sj.ejhg.5201155 DO - 10.1038/sj.ejhg.5201155 ID - Meur2004 ER - TY - JOUR AU - Kenemans, P. AU - Verstraeten, R. A. AU - Verheijen, R. H. M. PY - 2004 DA - 2004// TI - Oncogenic pathways in hereditary and sporadic breast cancer JO - Maturitas VL - 49 UR - https://doi.org/10.1016/j.maturitas.2004.06.005 DO - 10.1016/j.maturitas.2004.06.005 ID - Kenemans2004 ER - TY - JOUR AU - Taylor, D. P. AU - Burt, R. W. AU - Williams, M. S. AU - Haug, P. J. AU - Cannon-Albright, L. a. PY - 2010 DA - 2010// TI - Population-based family history-specific risks for colorectal cancer: a constellation approach JO - Gastroenterology VL - 138 UR - https://doi.org/10.1053/j.gastro.2009.11.044 DO - 10.1053/j.gastro.2009.11.044 ID - Taylor2010 ER - TY - JOUR AU - Kerber, R. A. AU - Neklason, D. W. AU - Samowitz, W. S. AU - Burt, R. W. PY - 2005 DA - 2005// TI - Frequency of familial colon cancer and hereditary nonpolyposis colorectal cancer (Lynch syndrome) in a large population database JO - Fam Cancer VL - 4 UR - https://doi.org/10.1007/s10689-005-0657-x DO - 10.1007/s10689-005-0657-x ID - Kerber2005 ER - TY - JOUR AU - Michils, G. AU - Tejpar, S. AU - Thoelen, R. AU - Cutsem, E. AU - Vermeesch, J. R. AU - Fryns, J. -. P. PY - 2005 DA - 2005// TI - Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study JO - Hum Mutat VL - 25 UR - https://doi.org/10.1002/humu.20122 DO - 10.1002/humu.20122 ID - Michils2005 ER - TY - JOUR AU - Overbeek, L. I. H. AU - Kets, C. M. AU - Hebeda, K. M. AU - Bodmer, D. AU - Looij, E. AU - Willems, R. PY - 2007 DA - 2007// TI - Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer JO - Br J Cancer VL - 96 UR - https://doi.org/10.1038/sj.bjc.6603754 DO - 10.1038/sj.bjc.6603754 ID - Overbeek2007 ER - TY - JOUR AU - Plaschke, J. AU - Rüschoff, J. AU - Schackert, H. K. PY - 2003 DA - 2003// TI - Genomic rearrangements of hMSH6 contribute to the genetic predisposition in suspected hereditary non-polyposis colorectal cancer syndrome JO - J Med Genet VL - 40 UR - https://doi.org/10.1136/jmg.40.8.597 DO - 10.1136/jmg.40.8.597 ID - Plaschke2003 ER - TY - JOUR AU - Nyström-Lahti, M. AU - Kristo, P. AU - Nicolaides, N. C. AU - Chang, S. Y. AU - Aaltonen, L. A. AU - Moisio, A. L. PY - 1995 DA - 1995// TI - Founding mutations and Alu-mediated recombination in hereditary colon cancer JO - Nat Med VL - 1 UR - https://doi.org/10.1038/nm1195-1203 DO - 10.1038/nm1195-1203 ID - Nyström-Lahti1995 ER - TY - JOUR AU - Wijnen, J. AU - Klift, H. AU - Vasen, H. AU - Khan, P. M. AU - Menko, F. AU - Tops, C. PY - 1998 DA - 1998// TI - MSH2 genomic deletions are a frequent cause of HNPCC JO - Nat Genet VL - 20 UR - https://doi.org/10.1038/3795 DO - 10.1038/3795 ID - Wijnen1998 ER - TY - JOUR PY - 2007 DA - 2007// TI - Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls JO - Nature VL - 447 UR - https://doi.org/10.1038/nature05911 DO - 10.1038/nature05911 ID - ref49 ER - TY - JOUR AU - Franke, A. AU - Balschun, T. AU - Karlsen, T. H. AU - Hedderich, J. AU - May, S. AU - Lu, T. PY - 2008 DA - 2008// TI - Replication of signals from recent studies of Crohn’s disease identifies previously unknown disease loci for ulcerative colitis JO - Nat Genet VL - 40 UR - https://doi.org/10.1038/ng.148 DO - 10.1038/ng.148 ID - Franke2008 ER - TY - JOUR AU - Wen, P. Y. AU - Kesari, S. PY - 2008 DA - 2008// TI - Malignant gliomas in adults JO - N Engl J Med VL - 359 UR - https://doi.org/10.1056/NEJMra0708126 DO - 10.1056/NEJMra0708126 ID - Wen2008 ER - TY - JOUR AU - Swensen, J. J. AU - Keyser, J. AU - Coffin, C. M. AU - Biegel, J. A. AU - Viskochil, D. H. AU - Williams, M. S. PY - 2009 DA - 2009// TI - Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1 JO - J Med Genet VL - 46 UR - https://doi.org/10.1136/jmg.2008.060152 DO - 10.1136/jmg.2008.060152 ID - Swensen2009 ER - TY - JOUR AU - Díaz de Ståhl, T. AU - Hartmann, C. AU - Bustos, C. AU - Piotrowski, A. AU - Benetkiewicz, M. AU - Mantripragada, K. K. PY - 2005 DA - 2005// TI - Chromosome 22 tiling-path array-CGH analysis identifies germ-line- and tumor-specific aberrations in patients with glioblastoma multiforme JO - Genes Chromosomes Cancer VL - 44 UR - https://doi.org/10.1002/gcc.20226 DO - 10.1002/gcc.20226 ID - Díaz de Ståhl2005 ER - TY - JOUR AU - Wu, C. AU - Miao, X. AU - Huang, L. AU - Che, X. AU - Jiang, G. AU - Yu, D. PY - 2012 DA - 2012// TI - Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations JO - Nat Genet VL - 44 UR - https://doi.org/10.1038/ng.1020 DO - 10.1038/ng.1020 ID - Wu2012 ER - TY - JOUR AU - Manié, S. AU - Santoro, M. AU - Fusco, A. AU - Billaud, M. PY - 2001 DA - 2001// TI - The RET receptor: function in development and dysfunction in congenital malformation JO - Trends Genet VL - 17 UR - https://doi.org/10.1016/S0168-9525(01)02420-9 DO - 10.1016/S0168-9525(01)02420-9 ID - Manié2001 ER - TY - JOUR AU - Bunone, G. AU - Borrello, M. G. AU - Picetti, R. AU - Bongarzone, I. AU - Peverali, F. A. AU - Franciscis, V. PY - 1995 DA - 1995// TI - Induction of RET Proto-oncogene expression in neuroblastoma cells precedes neuronal differentiation and is not mediated by protein synthesis JO - Exp Cell Res VL - 217 UR - https://doi.org/10.1006/excr.1995.1067 DO - 10.1006/excr.1995.1067 ID - Bunone1995 ER - TY - JOUR AU - Santoro, M. AU - Melillo, R. M. AU - Carlomagno, F. AU - Visconti, R. AU - Vita, G. AU - Salvatore, G. PY - 1998 DA - 1998// TI - Molecular biology of the MEN2 gene JO - J Intern Med VL - 243 UR - https://doi.org/10.1046/j.1365-2796.1998.00330.x DO - 10.1046/j.1365-2796.1998.00330.x ID - Santoro1998 ER - TY - JOUR AU - Romeo, G. AU - Ronchetto, P. AU - Luo, Y. AU - Barone, V. AU - Seri, M. AU - Ceccherini, I. PY - 1994 DA - 1994// TI - Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung’s disease JO - Nature VL - 367 UR - https://doi.org/10.1038/367377a0 DO - 10.1038/367377a0 ID - Romeo1994 ER - TY - JOUR AU - Yang, L. 1. AU - Han, Y. AU - Suarez Saiz, F. AU - Minden, M. PY - 2007 DA - 2007// TI - A tumor suppressor and oncogene: the WT1 story JO - Leukemia VL - 21 ID - Yang2007 ER - TY - JOUR AU - Manfredi, J. J. PY - 2010 DA - 2010// TI - The Mdm2-p53 relationship evolves: Mdm2 swings both ways as an oncogene and a tumor suppressor JO - Genes Dev VL - 24 UR - https://doi.org/10.1101/gad.1941710 DO - 10.1101/gad.1941710 ID - Manfredi2010 ER - TY - JOUR AU - Lewis-Tuffin, L. J. 1. AU - Rodriguez, F. AU - Giannini, C. AU - Scheithauer, B. AU - Necela, B. M. AU - Sarkaria, J. N. PY - 2010 DA - 2010// TI - Misregulated E-cadherin expression associated with an aggressive brain tumor phenotype JO - PLoS One VL - 5 UR - https://doi.org/10.1371/journal.pone.0013665 DO - 10.1371/journal.pone.0013665 ID - Lewis-Tuffin2010 ER - TY - JOUR AU - Lobry, C. AU - Oh, P. AU - Aifantis, I. PY - 2011 DA - 2011// TI - Oncogenic and tumor suppressor functions of Notch in cancer: it’s NOTCH what you think JO - J Exp Med VL - 208 UR - https://doi.org/10.1084/jem.20111855 DO - 10.1084/jem.20111855 ID - Lobry2011 ER - TY - JOUR AU - Maher, E. R. PY - 1996 DA - 1996// TI - Inherited renal cell carcinoma JO - Br J Urol VL - 78 UR - https://doi.org/10.1046/j.1464-410X.1996.01749.x DO - 10.1046/j.1464-410X.1996.01749.x ID - Maher1996 ER - TY - JOUR AU - Richards, F. M. AU - Phipps, M. E. AU - Latif, F. AU - Yao, M. AU - Crossey, P. A. AU - Foster, K. PY - 1993 DA - 1993// TI - Mapping the Von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis JO - Hum Mol Genet VL - 2 UR - https://doi.org/10.1093/hmg/2.7.879 DO - 10.1093/hmg/2.7.879 ID - Richards1993 ER - TY - JOUR AU - Ahvenainen, T. AU - Lehtonen, H. J. AU - Lehtonen, R. AU - Vahteristo, P. AU - Aittomäki, K. AU - Baynam, G. PY - 2008 DA - 2008// TI - Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer JO - Cancer Genet Cytogenet VL - 183 UR - https://doi.org/10.1016/j.cancergencyto.2008.01.010 DO - 10.1016/j.cancergencyto.2008.01.010 ID - Ahvenainen2008 ER - TY - JOUR AU - Kozlowski, P. AU - Roberts, P. AU - Dabora, S. AU - Franz, D. AU - Bissler, J. AU - Northrup, H. PY - 2007 DA - 2007// TI - Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations JO - Hum Genet VL - 121 UR - https://doi.org/10.1007/s00439-006-0308-9 DO - 10.1007/s00439-006-0308-9 ID - Kozlowski2007 ER - TY - JOUR AU - Russo, A. AU - Calò, V. AU - Bruno, L. AU - Rizzo, S. AU - Bazan, V. AU - Fede, G. PY - 2009 DA - 2009// TI - Hereditary ovarian cancer JO - Crit Rev Oncol Hematol VL - 69 UR - https://doi.org/10.1016/j.critrevonc.2008.06.003 DO - 10.1016/j.critrevonc.2008.06.003 ID - Russo2009 ER - TY - JOUR AU - Shimkets, R. AU - Gailani, M. R. AU - Siu, V. M. AU - Yang-Feng, T. AU - Pressman, C. L. AU - Levanat, S. PY - 1996 DA - 1996// TI - Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients JO - Am J Hum Genet VL - 59 ID - Shimkets1996 ER - TY - JOUR AU - Krepischi, A. C. AU - Achatz, M. I. W. AU - Santos, E. M. AU - Costa, S. S. AU - Lisboa, B. C. AU - Brentani, H. PY - 2012 DA - 2012// TI - Germline DNA copy number variation in familial and early-onset breast cancer JO - Breast Cancer Res VL - 14 UR - https://doi.org/10.1186/bcr3109 DO - 10.1186/bcr3109 ID - Krepischi2012 ER - TY - JOUR AU - Meimei, L. AU - Peiling, L. AU - Baoxin, L. AU - Changmin, L. AU - Rujin, Z. AU - Chunjie, H. PY - 2011 DA - 2011// TI - Lost expression of DCC gene in ovarian cancer and its inhibition in ovarian cancer cells JO - Med Oncol VL - 28 UR - https://doi.org/10.1007/s12032-009-9400-z DO - 10.1007/s12032-009-9400-z ID - Meimei2011 ER - TY - JOUR AU - Price, A. L. AU - Patterson, N. J. AU - Plenge, R. M. AU - Weinblatt, M. E. AU - Shadick, N. A. AU - Reich, D. PY - 2006 DA - 2006// TI - Principal components analysis corrects for stratification in genome-wide association studies JO - Nat Genet VL - 38 UR - https://doi.org/10.1038/ng1847 DO - 10.1038/ng1847 ID - Price2006 ER -