Research

Current Research:

The genetic testing center was initially established at Children's Medical Center, Tulsa, Oklahoma in 1973.

The center joined Saint Francis Health System in 2004. The investigators have published important findings in cytogenetics and molecular genetics in peer-reviewed journals.

Investigators:

Nancy J. Carpenter, Ph.D. Mapping of genes for X-linked mental retardation and other X-linked disorders; X-inactivation. njcarpenter@saintfrancis.com
Frederick V. Schaefer, Ph.D. Molecular characterization of single gene defects and breast cancer genes. fvschaefer@saintfrancis.com

Publications :

Abidi, F., Schwartz, C.E., Carpenter, N.J., Villard L., Fontes, M., Curtis, M. Carpenter-Waziri syndrome results from a mutation in XNP. Am. J. Med. Genet. 85:249-251, 1999.
Can B, Schaefer F, Malik S, Floyd M, Say B. Clinical expression of myotonic dystrophy: The predictive role of DNA diagnosis. J Okla State Med Assoc. 91:7-10, 1998.
Carpenter NJ, Brown WT, Qu Y, Keenan KL. Regional localization of a non-specific X-linked mental retardation gene (MRX59) to Xp21.2 - p22.2 Am J. Med. Genet. 85:266-270, 1999.
Carpenter NJ, Qu Y, Curtis M, Patil SR. An X-linked mental retardation syndrome with coarse facies, brachydactyly, and short stature maps to the proximal region of Xq. Am. J. Med. Genet. 85:230-235, 1999.
Nance MA, Schaefer FV and the HD Genetic Testing Group. Testing children at risk for Huntington disease. Neurology 49: 1048-1053, 1997.
Qu Y, Whetsell L, Carpenter NJ. Technical pitfalls encountered in PCR quantification using microsatellites. Genetic Testing 1:213-215, 1997.
Schaefer F, Anderson C, Can B, Say B. Novel mutation in the FGFR2 gene in the same codon as the Crouzon syndrome mutations in a severe Pfeiffer syndrome, type 2 case. Am. J. Med. Genet. 75: 252-255, 1998.
Schaefer F, Shults C, Whetsell L. Polymorphism patterns in the BRCA1 gene in the Native American population of the Midwest. Am. J. Hum. Genet. 61: A1302, 1997.
Tackels D, Carpenter NJ, Miles JH, Schwartz CE. Refined gene localization for the Miles-Carpenter syndrome. Am. J. Med. Genet. 85:221-222, 1999.
Velagaleti GVN, Carpenter NJ, Tharapel AT. Clinical applications of primed in situ labelling (PRINS): Rapid identification of a marker chromosome in a fetus. Ann.Genet. 40:154-157, 1997.