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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.   Dysregulation of interleukin 5 expression in familial eosinophilia.
  2. Prakash Babu, Senbagavalli; Chen, Yun-Yun K; Bonne-Annee, Sandra; Yang, Jun; Maric, Irina; Myers, Timothy G; Nutman, Thomas B; Klion, Amy D
  3. Allergy. 2017, Sep; 72(9): 1338-1345.
  1. 3.   Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes
  2. Hall, Michael; Murray, Caroline A.; Valdez, Michael J.; Perantoni, Alan
  3. PLOS GENETICS. 2017, Feb 6; 13(2): e1006610.
  1. 4.   The population genetics of quechuas, the largest native south american group: Autosomal sequences, SNPs, and microsatellites evidence high level of diversity
  2. Scliar, M. O.; Soares-Souza, G. B.; Chevitarese, J.; Lemos, L.; Magalhaes, W. C. S.; Fagundes, N. J.; Bonatto, S. L.; Yeager, M.; Chanock, S. J.; Tarazona-Santos, E.
  3. American Journal of Physical Anthropology. 2012, Mar; 147(3): 443-451.
  1. 5.   Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency
  2. Cuellar-Rodriguez, J.; Gea-Banacloche, J.; Freeman, A. F.; Hsu, A. P.; Zerbe, C. S.; Calvo, K. R.; Wilder, J.; Kurlander, R.; Olivier, K. N.; Holland, S. M.; Hickstein, D. D.
  3. Blood. 2011, Sep; 118(13): 3715-3720.
  1. 6.   Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)
  2. Heimall, J.; Davis, J.; Shaw, P. A.; Hsu, A. P.; Gu, W. J.; Welch, P.; Holl, S. M.; Freeman, A. F.
  3. Clinical Immunology. 2011, Apr; 139(1): 75-84.
  1. 7.   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. 8.   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. 9.   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. 10.   Pathogenesis of Hyper IgE Syndrome
  2. Heimall, J.; Freeman, A.; Holland, S. M.
  3. Clinical Reviews in Allergy & Immunology. 2010, Feb; 38(1): 32-38.
  1. 11.   A 1.5-Mb-resolution radiation hybrid map of the cat genome and comparative analysis with the canine and human genomes
  2. Murphy, W. J.; Davis, B.; David, V. A.; Agarwala, R.; Schaffer, A. A.; Wilkerson, A. J. P.; Neelam, B.; O'Brien, S. J.; Menotti-Raymond, M.
  3. Genomics. 2007, Feb; 89(2): 189-196.
  1. 12.   High-resolution patterns of meiotic recombination across the human major histocompatibility complex
  2. Cullen, M.; Perfetto, S. P.; Klitz, W.; Nelson, G.; Carrington, M.
  3. American Journal of Human Genetics. 2002 71(4): 759-776.
  1. 13.   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. 14.   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. 15.   Autosomal telomere exchange results in the rapid amplification and dispersion of Csf2ra genes in wild-derived mice
  2. Brannan, C. I.; Disteche, C. M.; Park, L. S.; Copeland, N. G.; Jenkins, N. A.
  3. Mammalian Genome. 2001 12(12): 882-886.
  1. 16.   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. 17.   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. 18.   Identification of a novel Sry-related gene and its germ cell-specific expression
  2. Osaki, E.; Nishina, Y.; Inazawa, J.; Copeland, N. G.; Gilbert, D. J.; Jenkins, N. A.; Ohsugi, M.; Tezuka, T.; Yoshida, M.; Semba, K.
  3. Nucleic Acids Research. 1999 27(12): 2503-2510.
  1. 19.   Evolution of the Avian Sex Chromosomes From an Ancestral Pair of Autosomes
  2. Fridolfsson, A. K.; Cheng, H.; Copeland, N. G.; Jenkins, N. A.; Liu, H. C.; Raudsepp, T.; Woodage, T.; Chowdhary, B.; Halverson, J.; Ellegren, H.
  3. Proceedings of the National Academy of Sciences of the United States of America. 1998 95(14): 8147-8152.
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