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  1. 1.   Germline pathogenic variants associated with triple-negative breast cancer in US Hispanic and Guatemalan women using hospital and community-based recruitment strategies
  2. Godinez Paredes, Jesica M; Rodriguez, Isabel; Ren, Megan; Orozco, Anali; Ortiz, Jeremy; Albanez, Anaseidy; Jones, Catherine; Nahleh, Zeina; Barreda, Lilian; Garland,Lisa; Torres-Gonzalez, Edmundo; Wu,Dongjing; Luo,Wen; Liu,Jia; Argueta, Victor; Orozco, Roberto; Gharzouzi, Eduardo; Dean, Michael
  3. Breast Cancer Research and Treatment. 2024, Mar 23;
  1. 2.   Severe food allergy reactions are associated with a-tryptase
  2. Lang, Abigail; Kubala, Stephanie; Grieco, Megan C; Mateja,Allyson; Pongracic, Jacqueline; Liu, Yihui; Frischmeyer-Guerrerio, Pamela A; Kumar, Rajesh; Lyons, Jonathan J
  3. The Journal of Allergy and Clinical Immunology. 2023, Oct; 152(4): 933-939.
  1. 3.   Defining baseline variability of serum tryptase levels improves accuracy in identifying anaphylaxis
  2. Mateja,Allyson; Wang, Qinlu; Chovanec, Jack; Kim, Jiwon; Wilson, Kenneth J; Schwartz, Lawrence B; Glover, Sarah C; Carter, Melody C; Metcalfe, Dean D; Brittain, Erica; Lyons, Jonathan J
  3. The Journal of allergy and clinical immunology. 2021, Aug 20;
  1. 4.   Comprehensive characterization of Alu-mediated breakpoints in germline VHL gene deletions and rearrangements in patients from 71 VHL families
  2. Vocke, Cathy D.; Ricketts, Christopher J.; Schmidt,Laura; Ball, Mark W.; Middelton, Lindsay A.; Zbar, Berton; Linehan, W. Marston
  3. Human Mutation. 2021, Mar 06; 42(5): 520-529.
  1. 5.   Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer
  2. Crooks, Daniel R.; Maio, Nunziata; Lang, Martin; Ricketts, Christopher J.; Vocke, Cathy D.; Gurram, Sandeep; Turan, Sevilay; Kim, Yun-Young; Cawthon, G. Mariah; Sohelian, Ferri; De Val, Natalia; Pfeiffer, Ruth M.; Jailwala, Parthav; Tandon, Mayank; Tran, Bao; Fan, Teresa W-M; Lane, Andrew N.; Ried, Thomas; Wangsa, Darawalee; Malayeri, Ashkan A.; Merino, Maria J.; Yang, Youfeng; Meier, Jordan L.; Ball, Mark W.; Rouault, Tracey A.; Srinivasan, Ramaprasad; Linehan, W. Marston
  3. Science Signaling. 2021, Jan 5; 14(664):
  1. 6.   The Metabolic Basis of Kidney Cancer
  2. Linehan, W. Marston; Schmidt,Laura; Crooks, Daniel R.; Wei, Darmood; Srinivasan, Ramaprasad; Lang, Martin; Ricketts, Christopher J.
  3. Cancer discovery. 2019, AUG; 9(8): 1006-1021.
  1. 7.   Transcriptomic profiling and quantitative high-throughput (qHTS) drug screening of CDH1 deficient hereditary diffuse gastric cancer (HDGC) cells identify treatment leads for familial gastric cancer.
  2. Chen, Ina; Mathews-Greiner, Lesley; Li, Dandan; Abisoye-Ogunniyan, Abisola; Ray, Satyajit; Bian, Yansong; Shukla, Vivek; Zhang, Xiaohu; Guha, Raj; Thomas, Craig; Gryder, Berkley; Zacharia, Athina; Beane, Joal D; Ravichandran, Sarangan; Ferrer, Marc; Rudloff, Udo
  3. Journal of translational medicine. 2017, May 01; 15(1): 92.
  1. 8.   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. 9.   Characterization of feline hereditary retinal dystrophies using clinical, functional, structural and molecular genetic studies
  2. Narfstrom, K.; Raymond, M. M.; Seeliger, M.
  3. Veterinary Ophthalmology. 2011, Sep; 14: 30-36.
  1. 10.   Mitochondrial Haplogroups Are Associated With Risk of Neuroretinal Disorder in HIV-Positive Patients
  2. Hendrickson, S. L.; Jabs, D. A.; Van Natta, M.; Lewis, R. A.; Wallace, D. C.; O'Brien, S. J.
  3. Jaids-Journal of Acquired Immune Deficiency Syndromes. 2010, Apr; 53(4): 451-455.
  1. 11.   Molecular Diagnosis and Therapy of Kidney Cancer
  2. Linehan, W. M.; Bratslavsky, G.; Pinto, P. A.; Schmidt, L. S.; Neckers, L.; Bottaro, D. P.; Srinivasan, R.
  3. Annual Review of Medicine. 2010, Feb; 61: 329-343.
  1. 12.   Retinal degeneration in the Abyssinian and Somali cat (rdAc): correlation between genotype and phenotype and rdAc allele frequency in two continents
  2. Narfstrom, K.; David, V.; Jarret, O.; Beatty, J.; Barrs, V.; Wilkie, D.; O'Brien, S.; Menotti-Raymond, M.
  3. Veterinary Ophthalmology. 2009 12(5): 285-291.
  1. 13.   BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dube syndrome: a new series of 50 families and a review of published reports
  2. Toro, J. R.; Wei, M. H.; Glenn, G. M.; Weinreich, M.; Toure, O.; Vocke, C.; Turner, M.; Choyke, P.; Merino, M. J.; Pinto, P. A.; Steinberg, S. M.; Schmidt, L. S.; Linehan, W. M.
  3. Journal of Medical Genetics. 2008 45(6): 321-331.
  1. 14.   Familial renal carcinoma: Clinical evaluation, clinical subtypes and risk of renal carcinoma development
  2. Zbar, B.; Glenn, G.; Merino, M.; Middelton, L.; Peterson, J.; Toro, J.; Coleman, J.; Pinto, P.; Schmidt, L. S.; Choyke, P.; Linehan, W. M.
  3. Journal of Urology. 2007, Feb; 177(2): 461-465.
  1. 15.   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. 16.   Bayesian risk assessment in genetic testing for autosomal dominant disorders with age-dependent penetrance, including hereditary cancer syndromes
  2. Ogino, S.; Wilson, R. B.; Gold, B.; Flodman, P.
  3. Journal of Molecular Diagnostics. 2005, NOV; 7(5): 654, Abstract G30-655, Abstract G30.
  1. 17.   Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical Cushing syndrome: A clinical and molecular genetic investigation
  2. Matyakhina, L.; Freedman, R. J.; Bourdeau, I.; Wei, M. H.; Stergiopoulos, S. G.; Chidakel, A.; Walther, M.; bu-Asab, M.; Tsokos, M.; Keil, M.; Toro, J.; Linehan, W. M.; Stratakis, C. A.
  3. Journal of Clinical Endocrinology & Metabolism. 2005, JUN; 90(6): 3773-3779.
  1. 18.   Estrogen receptor genotypes and haplotypes associated with breast cancer risk
  2. Gold, B.; Kalush, F.; Bergeron, J.; Scott, K.; Mitra, N.; Wilson, K.; Ellis, N.; Huang, H.; Chen, M.; Lippert, R.; Halldorsson, B. V.; Woodworth, B.; White, T.; Clark, A. G.; Parl, F. F.; Broder, S.; Dean, M.; Offit, K.
  3. Cancer Research. 2004, DEC 15; 64(24): 8891-8900.
  1. 19.   Activating Met mutations produce unique tumor profiles in mice with selective duplication of the mutant allele
  2. Graveel, C.; Su, Y. L.; Koeman, J.; Wang, L. M.; Tessarollo, L.; Fiscella, M.; Birchmeier, C.; Swiatek, P.; Bronson, R.; Woude, G. V.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2004, DEC 7; 101(49): 17198-17203.
  1. 20.   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. 21.   Genetic basis of cancer of the kidney: Disease specific approaches to therapy
  2. Linehan, W. M.; Vasselli, J.; Srinivasan, R.; Walther, M. M.; Merino, M.; Choyke, P.; Vocke, C.; Schmidt, L.; Isaacs, J. S.; Glenn, G.; Toro, J.; Zbar, B.; Bottaro, D.; Neckers, L.
  3. Clinical Cancer Research. 2004, SEP 15; 10(18, Part 2 Suppl. S): 6282S-6289S.
  1. 22.   Animal model - Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene
  2. Ivanov, S. V.; Ward, J. M.; Tessarollo, L.; McAreavey, D.; Sachdev, V.; Fananapazir, L.; Banks, M. K.; Morris, N.; Djurickovic, D.; vor-Henneman, D. E.; Wei, M. H.; Alvord, G. W.; Gao, B. N.; Richardson, J. A.; Minna, J. D.; Rogawski, M. A.; Lerman, M. I.
  3. American Journal of Pathology. 2004, SEP; 165(3): 1007-1018.
  1. 23.   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. 24.   Disruption of spermatogenesis in mice lacking A-type lamins
  2. Alsheimer, M.; Liebe, B.; Sewell, L.; Stewart, C. L.; Scherthan, H.; Benavente, R.
  3. Journal of Cell Science. 2004 117(7): 1173-1178.
  1. 25.   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.
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