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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

Franco, Luis M., Jennifer Goldstein, Neil S. Prose, M Angélica Selim, Carlos A. Tirado, Melissa M. Coale, and Marie T. McDonald. “Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization.” J Am Acad Dermatol 55, no. 1 (July 2006): 136–38. https://doi.org/10.1016/j.jaad.2005.11.1068.

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Kalfa, Theodosia A., Sherri A. Zimmerman, Barbara K. Goodman, Marie T. McDonald, and Russell E. Ware. “Pelger-Huët anomaly in a child with 1q42.3-44 deletion.” Pediatr Blood Cancer 46, no. 5 (May 1, 2006): 645–48. https://doi.org/10.1002/pbc.20504.

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Smith, A. C., T. Rubin, C. Shuman, L. Estabrooks, A. S. Aylsworth, M. T. McDonald, L. Steele, P. N. Ray, and R. Weksberg. “New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome.” Cytogenet Genome Res 113, no. 1–4 (2006): 313–17. https://doi.org/10.1159/000090847.

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Quigley, Denise I., Marie T. McDonald, Vidya Krishnamuthy, Priya S. Kishnani, Mary M. Lee, Andrea M. Haqq, and Barbara K. Goodman. “Triploid mosaicism in a 45,X/69,XXY infant.” Am J Med Genet A 138A, no. 2 (October 1, 2005): 171–74. https://doi.org/10.1002/ajmg.a.30943.

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Tan, K. M., B. Austin, M. Shaughnassy, C. Higgins, M. McDonald, E. C. Mulkerrin, and S. T. O’Keeffe. “Falls in an acute hospital and their relationship to restraint use.” Ir J Med Sci 174, no. 3 (July 2005): 28–31. https://doi.org/10.1007/bf03169144.

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Johnston, Jennifer J., Isabelle Olivos-Glander, Christina Killoran, Emma Elson, Joyce T. Turner, Kathryn F. Peters, Margaret H. Abbott, et al. “Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.” Am J Hum Genet 76, no. 4 (April 2005): 609–22. https://doi.org/10.1086/429346.

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Hanna, R., M. T. McDonald, J. A. Sullivan, J. F. Mackey, V. Krishnamurthy, and P. S. Kishnani. “Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.” J Inherit Metab Dis 27, no. 5 (2004): 687–90. https://doi.org/10.1023/b:boli.0000043027.80328.75.

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Thorland, E. C., R. E. Ensenauer, A. Adeyinka, H. C. Flynn, D. B. Dawson, J. L. Goldstein, M. T. McDonald, and S. M. Jalal. “Characterization of novel 4 and 6 Mb LCR-mediated microduplications involving the 22q11.2 DiGeorge/velocardiofacial syndrome region.” In American Journal of Human Genetics, 73:309–309. UNIV CHICAGO PRESS, 2003.

Scholars@Duke

Ensenauer, Regina E., Adewale Adeyinka, Heather C. Flynn, Virginia V. Michels, Noralane M. Lindor, D Brian Dawson, Erik C. Thorland, et al. “Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.” Am J Hum Genet 73, no. 5 (November 2003): 1027–40. https://doi.org/10.1086/378818.

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Koeberl, Dwight D., Sarah P. Young, Niels S. Gregersen, Jerry Vockley, Wendy E. Smith, Daniel Kelly Benjamin, Yan An, et al. “Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.” Pediatr Res 54, no. 2 (August 2003): 219–23. https://doi.org/10.1203/01.PDR.0000074972.36356.89.

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