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  1. 1.   Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma
  2. Jikuya, Ryosuke; Johnson, Todd A; Maejima, Kazuhiro; An, Jisong; Ju, Young-Seok; Lee, Hwajin; Ha, Kyungsik; Song, WooJeung; Kim, Youngwook; Okawa, Yuki; Sasagawa, Shota; Kanazashi, Yuki; Fujita, Masashi; Imoto, Seiya; Mitome, Taku; Ohtake, Shinji; Noguchi, Go; Kawaura, Sachi; Iribe, Yasuhiro; Aomori, Kota; Tatenuma, Tomoyuki; Komeya, Mitsuru; Ito, Hiroki; Ito, Yusuke; Muraoka, Kentaro; Furuya, Mitsuko; Kato, Ikuma; Fujii, Satoshi; Hamanoue, Haruka; Tamura, Tomohiko; Baba, Masaya; Suda, Toshio; Kodama, Tatsuhiko; Makiyama, Kazuhide; Yao, Masahiro; Shuch, Brian M; Ricketts, Christopher J; Schmidt,Laura; Linehan, W Marston; Nakagawa, Hidewaki; Hasumi, Hisashi
  3. EBioMedicine. 2023, May 12; 92: 104596.
  1. 2.   Genotype-cancer association in patients with Fanconi anemia due to pathogenic variants in FANCD1 (BRCA2) or FANCN (PALB2)
  2. McReynolds, Lisa J.; Biswas,Kajal; Giri, Neelam; Sharan, Shyam K.; Alter, Blanche P.
  3. Cancer Genetics. 2021, Oct 04; 258-259: 101-109.
  1. 3.   Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study
  2. Kim, Jung; Gianferante, Matthew; Karyadi, Danielle M.; Hartley, Stephen W.; Frone, Megan N.; Luo,Wen; Robison, Leslie L.; Armstrong, Gregory T.; Bhatia, Smita; Dean,Michael; Yeager,Meredith; Zhu,Bin; Song, Lei; Sampson, Joshua N.; Yasui, Yutaka; Leisenring, Wendy M.; Brodie,Seth; de Andrade, Kelvin C.; Fortes, Fernanda P.; Goldstein, Alisa M.; Khincha, Payal P.; Machiela, Mitchell J.; McMaster, Mary L.; Nickerson, Michael L.; Oba, Leatrisse; Pemov, Alexander; Pinheiro, Maisa; Rotunno, Melissa; Santiago, Karina; Wegman-Ostrosky, Talia; Diver, W. Ryan; Teras, Lauren; Freedman, Neal D.; Hicks,Belynda; Wang,Mingyi; Jones,Kristine; Hutchinson,Amy; Dagnall,Casey; Savage, Sharon A.; Tucker, Margaret A.; Chanock, Stephen J.; Morton, Lindsay M.; Stewart, Douglas R.; Mirabello, Lisa
  3. JNCI cancer spectrum. 2021, Apr; 5(2):
  1. 4.   Characterizing the genetic basis of methylome diversity in histologically normal human lung tissue
  2. Shi, J.; Marconett, C. N.; Duan, J.; Hyl, P. L.; Li, P.; Wang, Z.; Wheeler, W.; Zhou, B.; Campan, M.; Lee, D. S.; Huang, J.; Zhou, W.; Triche, T.; Amundadottir, L.; Warner, A.; Hutchinson, A.; Chen, P. H.; Chung, B. S.; Pesatori, A. C.; Consonni, D.; Bertazzi, P. A.; Bergen, A. W.; Freedman, M.; Siegmund, K. D.; Berman, B. P.; Borok, Z.; Chatterjee, N.; Tucker, M. A.; Caporaso, N. E.; Chanock, S. J.; Laird-Offringa, I. A.; Landi, M. T.
  3. Nature Communications. 2014, 27-Feb; 5: 3365.
  1. 5.   MiR-886-3p Regulates Cell Proliferation and Migration, and Is Dysregulated in Familial Non-Medullary Thyroid Cancer
  2. Xiong, Y.; Zhang, L.; Holloway, A. K.; Wu, X. L.; Su, L.; Kebebew, E.
  3. Plos One. 2011, Oct; 6(10): 11.
  1. 6.   Genetic Variation in Metabolic Genes, Occupational Solvent Exposure, and Risk of Non-Hodgkin Lymphoma
  2. Barry, K. H.; Zhang, Y. W.; Lan, Q.; Zahm, S. H.; Holford, T. R.; Leaderer, B.; Boyle, P.; Hosgood, H. D.; Chanock, S.; Yeager, M.; Rothman, N.; Zheng, T. Z.
  3. American Journal of Epidemiology. 2011, Feb; 173(4): 404-413.
  1. 7.   Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
  2. Gaudet, M. M.; Kirchhoff, T.; Green, T.; Vijai, J.; Korn, J. M.; Guiducci, C.; Segre, A. V.; McGee, K.; McGuffog, L.; Kartsonaki, C.; Morrison, J.; Healey, S.; Sinilnikova, O. M.; Stoppa-Lyonnet, D.; Mazoyer, S.; Gauthier-Villars, M.; Sobol, H.; Longy, M.; Frenay, M.; Hogervorst, F. B. L.; Rookus, M. A.; Collee, J. M.; Hoogerbrugge, N.; van Roozendaal, K. E. P.; Piedmonte, M.; Rubinstein, W.; Nerenstone, S.; Van Le, L.; Blank, S. V.; Caldes, T.; de la Hoya, M.; Nevanlinna, H.; Aittomaki, K.; Lazaro, C.; Blanco, I.; Arason, A.; Johannsson, O. T.; Barkardottir, R. B.; Devilee, P.; Olopade, O. I.; Neuhausen, S. L.; Wang, X. S.; Fredericksen, Z. S.; Peterlongo, P.; Manoukian, S.; Barile, M.; Viel, A.; Radice, P.; Phelan, C. M.; Narod, S.; Rennert, G.; Lejbkowicz, F.; Flugelman, A.; Andrulis, I. L.; Glendon, G.; Ozcelik, H.; Tol, A. E.; Montagna, M.; D'Andrea, E.; Friedman, E.; Laitman, Y.; Borg, A.; Beattie, M.; Ramus, S. J.; Domchek, S. M.; Nathanson, K. L.; Rebbeck, T.; Spurdle, A. B.; Chen, X. Q.; Holl, H.; John, E. M.; Hopper, J. L.; Buys, S. S.; Daly, M. B.; Southey, M. C.; Terry, M. B.; Tung, N.; Hansen, T. V. O.; Nielsen, F. C.; Greene, M. I.; Mai, P. L.; Osorio, A.; Duran, M.; Andres, R.; Benitez, J.; Weitzel, J. N.; Garber, J.; Hamann, U.; Peock, S.; Cook, M.; Oliver, C.; Frost, D.; Platte, R.; Evans, D. G.; Lalloo, F.; Eeles, R.; Izatt, L.; Walker, L.; Eason, J.; Barwell, J.; Godwin, A. K.; Schmutzler, R. K.; Wappenschmidt, B.; Engert, S.; Arnold, N.; Gadzicki, D.; Dean, M.; Gold, B.; Klein, R. J.; Couch, F. J.; Chenevix-Trench, G.; Easton, D. F.; Daly, M. J.; Antoniou, A. C.; Altshuler, D. M.; Offit, K.; kConFab, G. S. C. H. S. C. O.
  3. Plos Genetics. 2010, Oct; 6(10): 12.
  1. 8.   Is There a Genetic Basis for Health Disparities in Human Immunodeficiency Virus Disease?
  2. Winkler, C.
  3. Mount Sinai Journal of Medicine. 2010, Mar-Apr; 77(2): 149-159.
  1. 9.   Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations
  2. Chang, S.; Biswas, K.; Martin, B. K.; Stauffer, S.; Sharan, S. K.
  3. Journal of Clinical Investigation. 2009, Oct; 119(10): 3160-71.
  1. 10.   Genome-wide association study provides evidence for a breast cancer risk locus at 6q22-33
  2. Gold, B.; Kirchhoff, T.; Stefanov, S.; Lautenberger, J.; Viale, A.; Garber, J.; Friedman, E.; Narod, S.; Olshen, A. B.; Gregersen, P.; Kosarin, K.; Olsh, A.; Bergeron, J.; Ellis, N. A.; Klein, R. J.; Clark, A. G.; Norton, L.; Dean, M.; Boyd, J.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2008 105(11): 4340-4345.
  1. 11.   Identification of a novel chromosome region, 13q21.33-q22.2, for susceptibility genes in familial chronic lymphocytic leukemia
  2. Ng, D.; Toure, O.; Wei, M. H.; Arthur, D. C.; Abbasi, F.; Fontaine, L.; Marti, G. E.; Fraumeni, J. F.; Goldin, L. R.; Caporaso, N.; Toro, J. R.
  3. Blood. 2007, Feb; 109(3): 916-925.
  1. 12.   Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
  2. Wei, M. H.; Toure, O.; Glenn, G. M.; Pithukpakorn, M.; Neckers, L.; Stolle, C.; Choyke, P.; Grubb, R.; Middelton, L.; Turner, M. L.; Walther, M. M.; Merino, M. J.; Zbar, B.; Linehan, W. M.; Toro, J. R.
  3. Journal of Medical Genetics. 2006, JAN; 43(1): 18-27.
  1. 13.   Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models
  2. Difilippantonio, S.; Celeste, A.; Fernandez-Capetillo, O.; Chen, H. T.; San Martin, B. R.; Van Laethem, F.; Yang, Y. P.; Petukhova, G. V.; Eckhaus, M.; Feigenbaum, L.; Manova, K.; Kruhlak, M.; Camerini-Otero, R. D.; Sharan, S.; Nussenzweig, M.; Nussenzweig, A.
  3. Nature Cell Biology. 2005, JUL; 7(7): 675-U56.
  1. 14.   High frequency of somatic frameshift BHD gene mutations in Birt-Hogg-Dube-associated renal tumors
  2. Vocke, C. D.; Yang, Y. F.; Pavlovich, C. P.; Schmidt, L. S.; Nickerson, M. L.; Torres-Cabala, C. A.; Merino, M. J.; Walther, M. M.; Zbar, B.; Linehan, W. M.
  3. Journal of the National Cancer Institute. 2005, JUN 15; 97(12): 931-935.
  1. 15.   Early onset hereditary papillary renal carcinoma: Germline missense mutations in the tyrosine kinase domain of the met proto-oncogene
  2. Schmidt, L. S.; Nickerson, M. L.; Angeloni, D.; Glenn, G. M.; Walther, M. M.; Albert, P. S.; Warren, M. B.; Choyke, P. L.; Torres-Cabala, C. A.; Merino, M. J.; Brunet, J.; Berez, V.; Borras, J.; Sesia, G.; Middelton, L.; Phillips, J. L.; Stolle, C.; Zbar, B.; Pautler, S. E.; Linehan, W. M.
  3. Journal of Urology. 2004, OCT; 172(4): 1256-1261.
  1. 16.   A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer
  2. Okimoto, K.; Sakurai, J.; Kobayashi, T.; Mitani, H.; Hirayama, Y.; Nickerson, M. L.; Warren, M. B.; Zbar, B.; Schmidt, L. S.; Hino, O.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2004 101(7): 2023-2027.
  1. 17.   SMUCKLER/TIM4 is a distinct member of TIM family expressed by stromal cells of secondary lymphoid tissues and associated with lymphotoxin signaling
  2. Shakhov, A. N.; Rybtsov, S.; Tumanov, A. V.; Shulenin, S.; Dean, M.; Kuprash, D. V.; Nedospasov, S. A.
  3. European Journal of Immunology. 2004 34(2): 494-503.
  1. 18.   Comparative pathology of nerve sheath tumors in mouse models and humans
  2. Stemmer-Rachamimov, A. O.; Louis, D. N.; Nielsen, G. P.; Antonescu, C. R.; Borowsky, A. D.; Bronson, R. T.; Burns, D. K.; Cervera, P.; McLaughlin, M. E.; Reifenberger, G.; Schmale, M. C.; MacCollin, M.; Chao, R. C.; Cichowski, K.; Kalamarides, M.; Messerli, S. M.; McClatchey, A. I.; Niwa-Kawakita, M.; Ratner, N.; Reilly, K. M.; Zhu, Y.; Giovannini, M.
  3. Cancer Research. 2004 64(10): 3718-3724.
  1. 19.   Searching for the hereditary causes of renal-cell carcinoma
  2. Pavlovich, C. P.; Schmidt, L. S.
  3. Nature Reviews Cancer. 2004 4(5): 381-393.
  1. 20.   Myeloid leukemia: disease genes and mouse models
  2. Copeland, N. G.; Jenkins, N. A.
  3. Progress in Experimental Tumor Research. 1999 35: 53-63.
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