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  1. 1.   Hematologically important mutations: X-linked chronic granulomatous disease (third update)
  2. Roos, D.; Kuhns, D. B.; Maddalena, A.; Roesler, J.; Lopez, J. A.; Ariga, T.; Avcin, T.; de Boer, M.; Bustamante, J.; Condino-Neto, A.; Di Matteo, G.; He, J. X.; Hill, H. R.; Holland, S. M.; Kannengiesser, C.; Koker, M. Y.; Kondratenko, I.; van Leeuwen, K.; Malech, H. L.; Marodi, L.; Nunoi, H.; Stasia, M. J.; Ventura, A. M.; Witwer, C. T.; Wolach, B.; Gallin, J. I.
  3. Blood Cells Molecules and Diseases. 2010, Oct; 45(3): 246-265.
  1. 2.   Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
  2. Farasat, S.; Wei, M. H.; Herman, M.; Liewehr, D. J.; Steinberg, S. M.; Bale, S. J.; Fleckman, P.; Toro, J. R.
  3. Journal of Medical Genetics. 2009 46(2): 103-111.
  1. 3.   RNA regulation and cancer development
  2. Scholzova, E.; Malik, R.; Sevcik, J.; Kleibl, Z.
  3. Cancer Letters. 2007, Feb; 246(1-2): 12-23.
  1. 4.   ABCA3 mutations associated with pediatric interstitial lung disease
  2. Bullard, J. E.; Wert, S. E.; Whitsett, J. A.; Dean, M.; Nogee, L. M.
  3. American Journal of Respiratory and Critical Care Medicine. 2005, OCT 15; 172(8): 1026-1031.
  1. 5.   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. 6.   In the quest for stable rescuing mutants of p53: Computational mutagenesis of flexible loop L1
  2. Pan, Y. P.; Ma, B. Y.; Venkataraghavan, R. B.; Levine, A. J.; Nussinov, R.
  3. Biochemistry. 2005, FEB 8; 44(5): 1423-1432.
  1. 7.   In vivo functional analysis of missense mutations in BRCA1 using humanized mouse models
  2. Yang, Y. P.; Martin, B. K.; Sharan, S. K.
  3. Cancer Epidemiology Biomarkers & Prevention. 2004, NOV; 13(11, Part 2): 1837S-1837S.
  1. 8.   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. 9.   Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase
  2. Jankowsky, J. L.; Fadale, D. J.; Anderson, J.; Xu, G. M.; Gonzales, V.; Jenkins, N. A.; Copeland, N. G.; Lee, M. K.; Younkin, L. H.; Wagner, S. L.; Younkin, S. G.; Borchelt, D. R.
  3. Human Molecular Genetics. 2004 13(2): 159-170.
  1. 10.   The laminopathies: nuclear structure meets disease
  2. Mounkes, L.; Kozlov, S.; Burke, B.; Stewart, C. L.
  3. Current Opinion in Genetics & Development. 2003 13(3): 223-230.
  1. 11.   Characterization of adiposity and metabolism in Lmna-deficient mice
  2. Cutler, D. A.; Sullivan, T.; Marcus-Samuels, B.; Stewart, C. L.; Reitman, M. L.
  3. Biochemical and Biophysical Research Communications. 2002 291(3): 522-527.
  1. 12.   Life at the edge: The nuclear envelope and human disease
  2. Burke, B.; Stewart, C. L.
  3. Nature Reviews Molecular Cell Biology. 2002 3(8): 575-585.
  1. 13.   The A-type lamins - Nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases
  2. Mounkes, L. C.; Burke, B.; Stewart, C. L.
  3. Trends in Cardiovascular Medicine. 2001 11(7): 280-285.
  1. 14.   The nuclear envelope in muscular dystrophy and cardiovascular diseases
  2. Burke, B.; Mounkes, L. C.; Stewart, C.
  3. Traffic. 2001 2(10): 675-683.
  1. 15.   Molecular basis of feline beta-glucuronidase deficiency: An animal model of mucopolysaccharidosis VII
  2. Fyfe, J. C.; Kurzhals, R. L.; Lassaline, M. E.; Henthorn, P. S.; Alur, P. R. K.; Wang, P.; Wolfe, J. H.; Giger, U.; Haskins, M. E.; Patterson, D. F.; Sun, H. C.; Jain, S.; Yuhki, N.
  3. Genomics. 1999 58(2): 121-128.
  1. 16.   Accelerated Amyloid Deposition in the Brains of Transgenic Mice Coexpressing Mutant Presenilin 1 and Amyloid Precursor Proteins
  2. Borchelt, D. R.; Ratovitski, T.; Vanlare, J.; Lee, M. K.; Gonzales, V.; Jenkins, N. A.; Copeland, N. G.; Price, D. L.; Sisodia, S. S.
  3. Neuron. 1997 19(4): 939-945.
  1. 17.   Hyperaccumulation of Fad-Linked Presenilin 1 Variants in Vivo
  2. Lee, M. K.; Borchelt, D. R.; Kim, G.; Thinakaran, G.; Slunt, H. H.; Ratovitski, T.; Martin, L. J.; Kittur, A.; Gandy, S.; Levey, A. I.; Jenkins, N.; Copeland, N.; Price, D. L.; Sisodia, S. S.
  3. Nature Medicine. 1997 3(7): 756-760.
  1. 18.   Two Isoforms of the Mouse Ether-a-Go-Go-Related Gene Coassemble to Form Channels With Properties Similar to the Rapidly Activating Component of the Cardiac Delayed Rectifier K+ Current
  2. London, B.; Trudeau, M. C.; Newton, K. P.; Beyer, A. K.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Satler, C. A.; Robertson, G. A.
  3. Circulation Research. 1997 81(5): 870-878.
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