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  1. 1.   Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)
  2. Roos, Dirk; van Leeuwen, Karin; Hsu, Amy P.; Long-Priel,Debra; Begtrup, Amber; Brandon, Rhonda; Rawat, Amit; Vignesh, Pandiarajan; Madkaikar, Manesha; Stasia, Marie Jose; Bakri, Faris Ghalib; de Boer, Martin; Roesler, Joachim; Koker, Nezihe; Koker, M. Yavuz; Jakobsen, Marianne; Bustamante, Jacinta; Bravo Garcia-Morato, Maria; Valdivieso Shephard, Juan Luis; Cagdas, Deniz; Tezcan, Ilhan; Sherkat, Roya; Mortaz, Esmaeil; Fayezi, Abbas; Shahrooei, Mohammad; Wolach, Baruch; Blancas-Galicia, Lizbeth; Kanegane, Hirokazu; Kawai, Toshinao; Condino-Neto, Antonio; Vihinen, Mauno; Zerbe, Christa S.; Holland, Steven M.; Malech, Harry L.; Gallin, John; Kuhns,Doug
  3. Blood cells, molecules & diseases. 2021, Dec; 92
  1. 2.   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. 3.   A Custom 148 Gene-Based Resequencing Chip and the SNP Explorer Software: New Tools to Study Antibody Deficiency
  2. Wang, H. Y.; Gopalan, V.; Aksentijevich, I.; Yeager, M.; Ma, C. A.; Mohamoud, Y. A.; Quinones, M.; Matthews, C.; Boland, J.; Niemela, J. E.; Torgerson, T. R.; Giliani, S.; Uzel, G.; Orange, J. S.; Shapiro, R.; Notarangelo, L.; Ochs, H. D.; Fleisher, T.; Kastner, D.; Chanock, S. J.; Jain, A.
  3. Human Mutation. 2010, Sep; 31(9): 1080-1088.
  1. 4.   Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)
  2. Roos, D.; Kuhns, D. B.; Maddalena, A.; Bustamante, J.; Kannengiesser, C.; de Boer, M.; van Leeuwen, K.; Koker, M. Y.; Wolach, B.; Roesler, J.; Malech, H. L.; Holland, S. M.; Gallin, J. I.; Stasia, M. J.
  3. Blood Cells Molecules and Diseases. 2010, Apr; 44(4): 291-299.
  1. 5.   Mutations in the gene encoding the low-density lipoprotein receptor LRP4 cause abnormal limb development in the mouse
  2. Simon-Chazottes, D.; Tutois, S.; Kuehn, M.; Evans, M.; Bourgade, F.; Cook, S.; Davisson, M. T.; Guenet, J. L.
  3. Genomics. 2006, MAY; 87(5): 673-677.
  1. 6.   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. 7.   Replacing acid alpha-glucosidase in Pompe disease: Recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers
  2. Raben, N.; Fukuda, T.; Gilbert, A. L.; de Jong, D.; Thurberg, B. L.; Mattaliano, R. J.; Meikle, P.; Hopwood, J. J.; Nagashima, K.; Nagaraju, K.; Plotz, P. H.
  3. Molecular Therapy. 2005, JAN; 11(1): 48-56.
  1. 8.   Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk
  2. Khan, S. G.; Metin, A.; Gozukara, E.; Inui, H.; Shahlavi, T.; Muniz-Medina, V.; Baker, C. C.; Ueda, T.; Aiken, J. R.; Schneider, T. D.; Kraemer, K. H.
  3. Human Molecular Genetics. 2004 13(3): 343-352.
  1. 9.   Genetic control of myreloproliferation in BXH-2 mice
  2. Turcotte, K.; Gauthier, S.; Mitsos, L. M.; Shustik, C.; Copeland, N. G.; Jenkins, N. A.; Fournet, J. C.; Jolicoeur, P.; Gros, P.
  3. Blood. 2004 103(6): 2343-2350.
  1. 10.   Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening
  2. Ogino, S.; Wilson, R. B.; Gold, B.; Hawley, P.; Grody, W. W.
  3. Genetics in Medicine. 2004, SEP-OCT; 6(5): 439-449.
  1. 11.   Approaches to identify genes for complex human diseases: Lessons from Mendelian disorders
  2. Dean, M.
  3. Human Mutation. 2003 22(4): 261-274.
  1. 12.   The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon
  2. Prades, C.; Arnould, I.; Annilo, T.; Shulenin, S.; Chen, Z. Q.; Orosco, L.; Triunfol, M.; Devaud, C.; Maintoux-Larois, C.; Lafargue, C.; Lemoine, C.; Denefle, P.; Rosier, M.; Dean, M.
  3. Cytogenetic and Genome Research. 2002 98(2-3): 160-168.
  1. 13.   Complete characterization of the human ABC gene family
  2. Dean, M.; Allikmets, R.
  3. Journal of Bioenergetics and Biomembranes. 2001 33(6): 475-479.
  1. 14.   The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial
  2. Shroyer, N. F.; Lewis, R. A.; Allikmets, R.; Singh, N.; Dean, M.; Leppert, M.; Lupski, J. R.
  3. Vision Research. 1999 39(15): 2537-2544.
  1. 15.   What can we learn about age-related macular degeneration from other retinal diseases?
  2. Zack, D. J.; Dean, M.; Molday, R. S.; Nathans, J.; Redmond, T. M.; Stone, E. M.; Swaroop, A.; Valle, D.; Weber, B. H. F.
  3. Molecular Vision. 1999 5(24-35): NIL_37-NIL_43.
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