Skip to main content

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

Challa, P., N. S. Wagle, S. F. Freedman, M. T. McDonald, and R. R. Allingham. “A novel inherited syndrome of early lens dislocation.” In Investigative Ophthalmology & Visual Science, 40:S888–S888. ASSOC RESEARCH VISION OPHTHALMOLOGY INC, 1999.

Scholars@Duke

McDonald, M. T., W. Flejter, S. Sheldon, M. J. Putzi, and J. L. Gorski. “XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.” Am J Med Genet 73, no. 3 (December 19, 1997): 321–26.

Scholars@Duke

Gorski, J. L., M. D. Bialecki, M. T. McDonald, H. F. Massa, B. J. Trask, and E. N. Burright. “Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig.” Genomics 35, no. 2 (July 15, 1996): 338–45. https://doi.org/10.1006/geno.1996.0365.

Full Text

Flejter, W. L., P. E. Bennett-Baker, M. Ghaziuddin, M. McDonald, S. Sheldon, and J. L. Gorski. “Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.” American Journal of Medical Genetics 61, no. 2 (January 11, 1996): 182–87. https://doi.org/10.1002/(SICI)1096-8628(19960111)61:2<182::AID-AJMG17>3.0.CO;2-Q.

Full Text

Flejter, W. L., P. E. Bennett-Baker, M. Ghaziuddin, M. McDonald, S. Sheldon, and J. L. Gorski. “Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.” Am J Med Genet 61, no. 2 (January 11, 1996): 182–87. https://doi.org/10.1002/(SICI)1096-8628(19960111)61:2<182::AID-AJMG17>3.0.CO;2-Q.

Full Text

Badawi, N., S. F. Cahalane, M. McDonald, P. Mulhair, B. Begi, A. O’Donohue, and E. Naughten. “Galactosaemia--a controversial disorder. Screening & outcome. Ireland 1972-1992.” Ir Med J 89, no. 1 (January 1996): 16–17.

Scholars@Duke

McDonald, M. T., K. A. Papenberg, S. Ghosh, A. A. Glatfelter, B. B. Biesecker, E. A. Helmbold, D. S. Markel, A. Zolotor, W. C. McKinnon, and J. L. Vanderstoep. “A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.” Nat Genet 6, no. 2 (February 1994): 197–204. https://doi.org/10.1038/ng0294-197.

Full Text

McDonald, M., S. Maynard, S. Sheldon, and J. Innis. “Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.” Am J Med Genet 49, no. 3 (February 1, 1994): 288–93. https://doi.org/10.1002/ajmg.1320490309.

Full Text

McDonald, M. T., and J. L. Gorski. “Nager acrofacial dysostosis.” J Med Genet 30, no. 9 (September 1993): 779–82. https://doi.org/10.1136/jmg.30.9.779.

Full Text

McDonald, M. T., K. A. Papenberg, A. A. Glatfelter, J. L. Vander-Stoep, and D. A. Marchuk. “Dinucleotide repeat polymorphism at the human erythropoietin receptor locus (EPOR) at 19p13.” Hum Mol Genet 2, no. 5 (May 1993): 619. https://doi.org/10.1093/hmg/2.5.619-a.

Full Text

Pages