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Marie Theresa McDonald, MD

Professor of Pediatrics
Campus mail: 2082 GSRB1, Box 103857, Durham, NC 27710
Phone: (919) 681-1982
Email address: mcdon035@mc.duke.edu

My current research interests are in the field of Clinical Genetics, Dysmorphology, and Fabry disease.

Education and Training

  • M.D., University Dublin Trinity College, 1988

Publications

Ballif, Blake C., Aaron Theisen, Justine Coppinger, Gordon C. Gowans, Joseph H. Hersh, Suneeta Madan-Khetarpal, Karen R. Schmidt, et al. “Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.” Mol Cytogenet 1 (April 28, 2008): 8. https://doi.org/10.1186/1755-8166-1-8.

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Gururangan, Sridharan, Wendy Frankel, Russell Broaddus, Mark Clendenning, Leigha Senter, Marie McDonald, James Eastwood, et al. “Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.” Neuro Oncol 10, no. 1 (February 2008): 93–97. https://doi.org/10.1215/15228517-2007-037.

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Krishnamurthy, V., K. Eschrich, A. Boney, J. Sullivan, M. McDonald, P. S. Kishnani, and D. D. Koeberl. “Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency.” J Inherit Metab Dis 30, no. 5 (October 2007): 819. https://doi.org/10.1007/s10545-007-0606-y.

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Shaffer, Lisa G., Aaron Theisen, Bassem A. Bejjani, Blake C. Ballif, Arthur S. Aylsworth, Cynthia Lim, Marie McDonald, et al. “The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome.” Genet Med 9, no. 9 (September 2007): 607–16. https://doi.org/10.1097/gim.0b013e3181484b49.

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Tan, K. M., B. Austin, M. Shaughnessy, M. McDonald, S. O’Keeffe, and E. C. Mulkerrin. “An audit of the impact of implementation of a stroke care pathway in an acute teaching hospital.” Ir J Med Sci 176, no. 2 (July 2007): 75–79. https://doi.org/10.1007/s11845-007-0029-7.

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Banikazemi, Maryam, Jan Bultas, Stephen Waldek, William R. Wilcox, Chester B. Whitley, Marie McDonald, Richard Finkel, et al. “Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.” Ann Intern Med 146, no. 2 (January 16, 2007): 77–86. https://doi.org/10.7326/0003-4819-146-2-200701160-00148.

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Kishnani, P. S., D. Corzo, M. Nicolino, B. Byrne, H. Mandel, W. L. Hwu, N. Leslie, et al. “Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.” Neurology 68, no. 2 (January 9, 2007): 99–109. https://doi.org/10.1212/01.wnl.0000251268.41188.04.

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Robin, Nathaniel H., Clare J. Taylor, Donna M. McDonald-McGinn, Elaine H. Zackai, Peter Bingham, Kevin J. Collins, Dawn Earl, et al. “Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.” Am J Med Genet A 140, no. 22 (November 15, 2006): 2416–25. https://doi.org/10.1002/ajmg.a.31443.

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Poss, Alexis F., Paula C. Goldenberg, Catherine W. Rehder, Hutton M. Kearney, Elizabeth C. Melvin, Dwight D. Koeberl, and Marie T. McDonald. “Clinical experience with array CGH: case presentations from nine months of practice.” Am J Med Genet A 140, no. 19 (October 1, 2006): 2050–56. https://doi.org/10.1002/ajmg.a.31417.

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Challa, Pratap, Michael Arthur Hauser, Coralia Catalina Luna, Sharon Fridovich Freedman, Margaret Pericak-Vance, Jun Yang, Marie Theresa McDonald, and R Rand Allingham. “Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.” Mol Vis 12 (August 28, 2006): 1009–15.

Scholars@Duke

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