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  1. 1.   Novel MAPK/AKT-impairing germline NRAS variant identified in a melanoma-prone family
  2. Brown, Kevin M; Xu, Mai; Sargen, Michael; Jang,Hyunbum; Zhang,Mingzhen; Zhang, Tongwu; Zhu, Bin; Jones, Kristie; Kim, Jung; Mendoza, Laura; Hayward, Nicholas K; Tucker, Margaret A; Goldstein, Alisa M; Yang, Xiaohong Rose; Stewart, Douglas R; Hicks, Belynda; Consonni, Dario; Pesatori, Angela C; Fargnoli, Maria Concetta; Peris, Ketty; Stratigos, Alex; Menin, Chiara; Ghiorzo, Paola; Puig, Susana; Nagore, Eduardo; Andresson,Thorkell; Nussinov,Ruth; Calista, Donato; Landi, Maria Teresa
  3. Familial cancer. 2021, Jul 03;
  1. 2.   Mosaicism for KCNJ5 causing early-onset primary aldosteronism due to bilateral adrenocortical hyperplasia
  2. Maria, Andrea G; Suzuki, Mari; Berthon, Annabel; Kamilaris, Crystal; Demidowich, Andrew; Lack,Justin; Zilbermint, Mihail; Hannah-Shmouni, Fady; Faucz, Fabio R; Stratakis, Constantine A
  3. American journal of hypertension. 2020, Feb 22; 33(2): 124-130.
  1. 3.   Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls
  2. Kim, Jung; Luo, Wen; Wang, Mingyi; Wegman-Ostrosky, Talia; Frone, Megan N.; Johnston, Jennifer J.; Nickerson, Michael L.; Rotunno, Melissa; Li, Shengchao; Achatz, Maria I.; Brodie, Seth; Dean, Michael; de Andrade, Kelvin C.; Fortes, Fernanda P.; Gianferante, Matthew; Khincha, Payal; McMaster, Mary L.; McReynolds, Lisa J.; Pemov, Alexander; Pinheiro, Maisa; Santiago, Karina M.; Alter, Blanche P.; Caporaso, Neil E.; Gadalla, Shahinaz M.; Goldin, Lynn R.; Greene, Mark H.; Loud, Jennifer; Yang, Xiaohong R.; Freedman, Neal D.; Gapstur, Susan M.; Gaudet, Mia M.; Calista, Donato; Ghiorzo, Paola; Fargnoli, Maria Concetta; Nagore, Eduardo; Peris, Ketty; Puig, Susana; Landi, Maria Teresa; Hicks, Belynda; Zhu, Bin; Liu, Jia; Sampson, Joshua N.; Chanock, Stephen J.; Mirabello, Lisa J.; Morton, Lindsay M.; Biesecker, Leslie G.; Tucker, Margaret A.; Savage, Sharon A.; Goldstein, Alisa M.; Stewart, Douglas R.
  3. Genome medicine. 2018, Dec 24; 10(1):
  1. 4.   Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.
  2. Ricks-Santi, Luisel; McDonald, J Tyson; Gold, Bert; Dean, Michael; Thompson, Nicole; Abbas, Muneer; Wilson, Bradford; Kanaan, Yasmine; Naab, Tammey J; Dunston, Georgia
  3. Ethnicity & disease. 2017, Apr 20; 27(2): 169-178.
  1. 5.   Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer
  2. Yang, X. H. R.; Jessop, L.; Myers, T.; Amundadottir, L.; Pfeiffer, R. M.; Wheeler, W.; Pike, K. M.; Yuenger, J.; Burdett, L.; Yeager, M.; Chanock, S. J.; Tucker, M. A.; Goldstein, A. M.
  3. Familial Cancer. 2011, Sep; 10(3): 545-548.
  1. 6.   Ductal Carcinoma In Situ: Detection, Diagnosis, and Characterization with Magnetic Resonance Imaging
  2. Jansen, S. A.
  3. Seminars in Ultrasound Ct and Mri. 2011, Aug; 32(4): 306-318.
  1. 7.   Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1 beta Activation and Severe Autoinflammation in Mice
  2. Chae, J. J.; Cho, Y. H.; Lee, G. S.; Cheng, J.; Liu, P. P.; Feigenbaum, L.; Katz, S. I.; Kastner, D. L.
  3. Immunity. 2011, May; 34(5): 755-768.
  1. 8.   Dopaminergic Neuronal Loss, Reduced Neurite Complexity and Autophagic Abnormalities in Transgenic Mice Expressing G2019S Mutant LRRK2
  2. Ramonet, D.; Daher, J. P. L.; Lin, B. M.; Stafa, K.; Kim, J.; Banerjee, R.; Westerlund, M.; Pletnikova, O.; Glauser, L.; Yang, L. C.; Liu, Y.; Swing, D. A.; Beal, M. F.; Troncoso, J. C.; McCaffery, J. M.; Jenkins, N. A.; Copeland, N. G.; Galter, D.; Thomas, B.; Lee, M. K.; Dawson, T. M.; Dawson, V. L.; Moore, D. J.
  3. Plos One. 2011, Apr; 6(4):
  1. 9.   Intervening in beta-Catenin Signaling by Sulindac Inhibits S100A4-Dependent Colon Cancer Metastasis
  2. Stein, U.; Arlt, F.; Smith, J.; Sack, U.; Herrmann, P.; Walther, W.; Lemm, M.; Fichtner, I.; Shoemaker, R. H.; Schlag, P. M.
  3. Neoplasia. 2011, Feb; 13(2): 131-144.
  1. 10.   Cancer and Inflammation: Promise for Biologic Therapy
  2. Demaria, S.; Pikarsky, E.; Karin, M.; Coussens, L. M.; Chen, Y. C.; El-Omar, E. M.; Trinchieri, G.; Dubinett, S. M.; Mao, J. T.; Szabo, E.; Krieg, A.; Weiner, G. J.; Fox, B. A.; Coukos, G.; Wang, E.; Abraham, R. T.; Carbone, M.; Lotze, M. T.
  3. Journal of Immunotherapy. 2010, May; 33(4): 335-351.
  1. 11.   MC1R variants increase risk of melanomas harboring BRAF mutations
  2. Fargnoli, M. C.; Pike, K.; Pfeiffer, R. M.; Tsang, S.; Rozenblum, E.; Munroe, D. J.; Golubeva, Y.; Calista, D.; Seidenari, S.; Massi, D.; Carli, P.; Bauer, J.; Elder, D. E.; Bastian, B. C.; Peris, K.; Landi, M. T.
  3. Journal of Investigative Dermatology. 2008, Oct; 128(10): 2485-2490.
  1. 12.   Human herpesvirus 8 seroprevalence among children and adolescents in the United States
  2. Anderson, L. A.; Li, Y.; Graubard, B. I.; Whitby, D.; Mbisa, G.; Tan, S.; Goedert, J. J.; Engels, E. A.
  3. Pediatric Infectious Disease Journal. 2008 27(7): 661-664.
  1. 13.   Genetic variants in the 8q24 locus and risk of testicular germ cell tumors
  2. Cook, M. B.; Graubard, B. I.; Quraishi, S. M.; Yeager, M.; Chanock, S. J.; Crenshaw, A.; Erickson, R. L.; Rubertone, M. V.; Thomas, G.; McGlynn, K. A.
  3. Human Genetics. 2008 123(4): 409-418.
  1. 14.   A role for presenilin in post-stress regulation: effects of presenilin mutations on Ca2+ currents in Drosophila
  2. Lu, Y. S.; Lv, Y. B.; Ye, Y. H.; Wang, Y. L.; Hong, Y.; Fortini, M. E.; Zhong, Y.; Xie, Z. P.
  3. Faseb Journal. 2007, Aug; 21(10): 2368-2378.
  1. 15.   Mouse models of the laminopathies
  2. Stewart, C. L.; Kozlov, S.; Fong, L. G.; Young, S. G.
  3. Experimental Cell Research. 2007, Jun; 313(10): 2144-2156.
  1. 16.   Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dube syndrome
  2. Toro, J. R.; Pautler, S. E.; Stewart, L.; Glenn, G. M.; Weinreich, M.; Toure, O.; Wei, M. H.; Schmidt, L. S.; Davis, L.; Zbar, B.; Choyke, P.; Steinberg, S. M.; Nguyen, D. M.; Linehan, W. M.
  3. American Journal of Respiratory and Critical Care Medicine. 2007, May; 175(10): 1044-1053.
  1. 17.   Sulindac regulates the aryl hydrocarbon receptor-mediated expression of Phase 1 metabolic enzymes in vivo and in vitro
  2. Ciolino, H. P.; MacDonald, C. J.; Memon, O. S.; Bass, S. E.; Yeh, G. C.
  3. Carcinogenesis. 2006, Aug; 27(8): 1586-1592.
  1. 18.   Onset and progression in inherited ALS determined by motor neurons and microglia
  2. Boillee, S.; Yamanaka, K.; Lobsiger, C. S.; Copeland, N. G.; Jenkins, N. A.; Kassiotis, G.; Kollias, G.; Clevel, D. W.
  3. Science. 2006, JUN 2; 312(5778): 1389-1392.
  1. 19.   gamma-cleavage-independent functions of presenilin, nicastrin, and aph-1 regulate cell-junction organization and prevent tau toxicity in vivo
  2. Doglio, L. E.; Kanwar, R.; Jackson, G. R.; Perez, M.; Avila, J.; Dingwal, C.; Dotti, C. G.; Fortini, M. E.; Feiguin, F.
  3. Neuron. 2006, MAY 4; 50(3): 359-375.
  1. 20.   Modeling clinically heterogeneous presenilin mutations with transgenic Drosophila
  2. Seidner, G. A.; Ye, Y. H.; Faraday, M. M.; Alvord, W. G.; Fortini, M. E.
  3. Current Biology. 2006, May; 16(10): 1026-1033.
  1. 21.   Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy
  2. Boguslavsky, R. L.; Stewart, C. L.; Worman, H. J.
  3. Human Molecular Genetics. 2006, FEB 15; 15(4): 653-663.
  1. 22.   Parkinson's disease alpha-synuclein transgenic mice develop neuronal mitochondrial degeneration and cell death
  2. Martin, L. J.; Pan, Y.; Price, A. C.; Sterling, W.; Copeland, N. G.; Jenkins, N. A.; Price, D. L.; Lee, M. K.
  3. Journal of Neuroscience. 2006, JAN 4; 26(1): 41-50.
  1. 23.   The laminopathies: The functional architecture of the nucleus and its contribution to disease
  2. Burke, B.; Stewart, C. L.
  3. Annual review of genomics and human genetics. 2006 7: 369-405.
  1. 24.   Comprehensive analysis of CDKN2A (p16(INK4A)/p14(ARF)) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma
  2. Laud, K.; Marian, C.; Avril, M. F.; Barrois, M.; Chompret, A.; Goldstein, A. M.; Tucker, M. A.; Clark, P. A.; Peters, G.; Chaudru, V.; Demenais, F.; Spatz, A.; Smith, M. W.; Lenoir, G. M.; Bressac-de Paillerets, B.; French Hereditary Melanoma Study, G.
  3. Journal of Medical Genetics. 2006, Jan; 43(1): 39-47.
  1. 25.   Coincident thresholds of mutant protein for paralytic disease and protein aggregation caused by restrictively expressed superoxide dismutase cDNA
  2. Wang, J.; Xu, G. L.; Slunt, H. H.; Gonzales, V.; Coonfield, M.; Fromholt, D.; Copeland, N. G.; Jenkins, N. A.; Borchelt, D. R.
  3. Neurobiology of Disease. 2005, DEC; 20(3): 943-952.
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