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  1. 1.   The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature
  2. Thompson, Ashley S; Saba, Nusrat; McReynolds, Lisa J; Munir, Saeeda; Ahmed, Parvez; Sajjad, Sumaira; Jones,Kristine; Yeager,Meredith; Donovan, Frank X; Chandrasekharappa, Settara C; Alter, Blanche P; Savage, Sharon A; Rehman, Sadia
  3. Molecular genetics & genomic medicine. 2021, May 07; e1693.
  1. 2.   Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay
  2. Sirisena, Nirmala; Biswas,Kajal; Sullivan,Teresa; Stauffer,Stacey; Cleveland, Linda; Southon,Eileen; Dissanayake, Vajira H W; Sharan,Shyam
  3. Breast cancer research : BCR. 2020, May 11; 22(1): 43.
  1. 3.   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. 4.   Long homopurine center dot homopyrimidine sequences are characteristic of genes expressed in brain and the pseudoautosomal region
  2. Bacolla, A.; Collins, J. R.; Gold, B.; Chuzhanova, N.; Yi, M.; Stephens, R. M.; Stefanov, S.; Olsh, A.; Jakupciak, J. P.; Dean, M.; Lempicki, R. A.; Cooper, D. N.; Wells, R. D.
  3. Nucleic Acids Research. 2006 34(9): 2663-2675.
  1. 5.   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. 6.   Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome
  2. Schmidt, L. S.; Nickerson, M. L.; Warren, M. B.; Glenn, G. M.; Toro, J. R.; Merino, M. J.; Turner, M. L.; Choyke, P. L.; Sharma, N.; Peterson, J.; Morrison, P.; Maher, E. R.; Walther, M. M.; Zbar, B.; Linehan, W. M.
  3. American Journal of Human Genetics. 2005, JUN; 76(6): 1023-1033.
  1. 7.   Retrospective family study of childhood medulloblastoma
  2. Ng, D.; Stavrou, T.; Liu, L.; Taylor, M. D.; Gold, B.; Dean, M.; Kelley, M. J.; Dubovsky, E. C.; Vezina, G.; Nicholson, H. S.; Byrne, J.; Rutka, J. T.; Hogg, D.; Reaman, G. H.; Goldstein, A. M.
  3. American Journal of Medical Genetics Part A. 2005, MAY 1; 134A(4): 399-403.
  1. 8.   Inherited motor neuron disease in domestic cats: A model of spinal muscular atrophy
  2. He, Q. C.; Lowrie, C.; Shelton, G. D.; Castellani, R. J.; Menotti-Raymond, M.; Murphy, W.; O'Brien, S. J.; Swanson, W. F.; Fyee, J. C.
  3. Pediatric Research. 2005, MAR; 57(3): 324-330.
  1. 9.   Cytonuclear genomic dissociation in African elephant species
  2. Roca, A. L.; Georgiadis, N.; O'Brien, S. J.
  3. Nature Genetics. 2005, JAN; 37(1): 96-100.
  1. 10.   A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration
  2. Goti, D.; Katzen, S. M.; Mez, J.; Kurtis, N.; Kiluk, J.; Ben-Haiem, L.; Jenkins, N. A.; Copeland, N. G.; Kakizuka, A.; Sharp, A. H.; Ross, C. A.; Mouton, P. R.; Colomer, V.
  3. Journal of Neuroscience. 2004, NOV 10; 24(45): 10266-10279.
  1. 11.   APOBEC3G genetic variants and their influence on the progression to AIDS
  2. An, P.; Bleiber, G.; Duggal, P.; Nelson, G.; May, M.; Mangeat, B.; Alobwede, I.; Trono, D.; Vlahov, D.; Donfield, S.; Goedert, J. J.; Phair, J.; Buchbinder, S.; O'Brien, S. J.; Telenti, A.; Winkler, C. A.
  3. Journal of Virology. 2004, OCT; 78(20): 11070-11076.
  1. 12.   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. 13.   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. 14.   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. 15.   Serum proteomic profiles suggest celecoxib-modulated targets and response predictors
  2. Zhen, X. A.; Luke, B. T.; Izmirlian, G.; Umar, A.; Lynch, P. M.; Phillips, R. K. S.; Patterson, S.; Conrads, T. P.; Veenstra, T. D.; Greenwald, P.; Hawk, E. T.; Ali, L. U.
  3. Cancer Research. 2004 64(8): 2904-2909.
  1. 16.   The regulation of platelet-dense granules by Rab27a in the ashen mouse, a model of Hermansky-Pudlak and Griscelli syndromes, is granule-specific and dependent on genetic background
  2. Novak, E. K.; Gautam, R.; Reddington, M.; Collinson, L. M.; Copeland, N. G.; Jenkins, N. A.; McGarry, M. P.; Swank, R. T.
  3. Blood. 2002 100(1): 128-135.
  1. 17.   Ataxic mouse mutants and molecular mechanisms of absence epilepsy
  2. Fletcher, C. F.; Frankel, W. N.
  3. Human Molecular Genetics. 1999 8(10 Special Issue SI): 1907-1912.
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