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Biochemistry & Microbiology
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Nancy J. Carpenter, Ph.D.
Adjunct Professor of Biochemistry

njcarpenter@saintfrancis.com

 

Research Interests

Molecular genetics and cytogenetics

Representative Publications & Presentations

Carpenter, N.J. Molecular Genetics and Diagnostic Testing. In: Butler and Meaney, editors. Genetics of Developmental Disabilities. New York: Marcel Dekker, Inc. (in press).

Velagelati, G.V.N. and Carpenter, N.J. Microdeletion syndromes. In: Butler and Meaney, editors. Genetics of Developmental Disabilities. New York: Marcel Dekker, Inc. (in press).

Carpenter, N.J., May, K., Roa, B., Tarleton, J. Developmental disorders. In: Leonard, Caliendo, Snow-Bailey, Bagg, Kaul and Van Deerlin, editors. Molecular Pathology in Clinical Practice. New York: Springer-Verlag (in press).

Kato, M., Das, S., Petras K., Kitamura K., Morohashi K., Abuelo D.N., Bonneau D., Brady A., Carpenter, N.J., Frisone F., Guerrini R., Iida E., Itoh M., Lewanda A.F., Nanba Y., Oka A., Proud V.K., Russel K.L., Saugier-Veber, P., Schelley, S.L., Selicorni A., Shaner R., Stewart F., Toyama J., Toutain A., Yanazawa M., Zackai, E.H., Dobyns W.B. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Human Mutation (in press).

Carpenter, N.J. 2001. Molecular cytogenetics. Seminars in Pediatric Neurology 8:135-146.

Crawford, D.C., Schwartz, C.E., Meadows, K.L., Newman, J.L., Taft, L.F., Gunter, C., Bailey, D.B., Brown, W.T., Carpenter, N.J., Howard-Peebles, P.N., Mazzocco, M.M.M., Monaghan, K.G., Nolin, S.L., Reiss, A.L., Roberson, J., Rohlfs, E.M., Taylor, A.K., Warren, S.T., Sherman, S.L. 2000. Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African-American population. Am. J. Human Genet. 66:480-493.

Carpenter, N.J., Berkel, A.I., Say, B. 2000. “Novel” immunodeficiency syndrome may be a previously described entity. Clinical Genetics 57:90-91.

Abidi, F., Schwartz, C.E., Carpenter, N.J., Villard L., Fontes, M., Curtis, M. 1999. Carpenter-Waziri syndrome results from a mutation in XNP. Am. J. Med. Genet. 85:249-251. Tackels, D., Carpenter, N.J., Miles, J.H., Schwartz, C.E. 1999. Refined gene localization for the Miles-Carpenter syndrome. Am. J. Med. Genet. 85:221-222.

Carpenter, N.J., Qu, Y., Curtis, M., Patil, S.R. 1999. 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.

Fisch, G.S., Carpenter, N.J., Simensen, R., Smits, A.P.T., van Roosmalen, T., Hamel, B.C.J. 1999. Longitudinal changes in cognitive-behavior levels in three children with FRAXE. Am. J. Med. Genet. 84:291-292.

Carpenter, N.J., Brown, W.T., Qu, Y., Keenan, K.L. 1999. Regional localization of a non-specific X-linked mental retardation gene (MRX59) to Xp21.2 - p22.2. Am J. Med. Genet. 85:266-270.

Fisch, G.S., Holden J.J.A., Carpenter, N.J., Howard-Peebles, P.N., Maddalena, A., Pandya, A., Nance, W. 1999. Age-related language characteristics of children and adolescents with Fragile X syndrome. Am. J. Med. Genet. 83:253-256.

Fisch, G.S., Carpenter, N.J., Holden J.J.A., Simensen, R., Howard-Peebles, P.N., Maddalena, A., Pandya, A., Nance, W. 1999. Longitudinal assessment of adaptive and maladaptive behaviors in Fragile X males: growth, development, and profiles. Am J. Med. Genet. 83:257-263.

Carpenter, N.J. 2001. Molecular cytogenetics. Seminars in Pediatric Neurology 8:135-146.

Carpenter, N.J., Berkel, A.I. and Say, B. 2000. "Novel" immunodeficiency syndrome may be a previously described entity. Clinical Genetics 57:90-91.

Crawford, D.C., Schwartz, C.E., Meadows, K.L., Newman, J.L., Taft, L.F., Gunter, C., Bailey, D.B., Brown, W.T., Carpenter, N.J., Howard-Peebles, P.N., Mazzocco, M.M.M., Monaghan, K.G., Nolin, S.L., Reiss, A.L., Roberson, J., Rohlfs, E.M., Taylor, A.K., Warren, S.T. and Sherman, S.L. 2000. Survey of the fragile X syndrome CGG repeat and the short-tandem-repeat and single-nucleotide-polymorphism haplotypes in an African-American population. Am. J. Human Genet. 66:480-493.

Carpenter, N.J., Brown, W.T., Qu, Y. and Keenan, K.L. 1999. Regional localization of a non-specific X-linked mental retardation gene (MRX59) to Xp21.2 - p22.2. Am. J. Med. Genet. 85:266-270.

Carpenter, N.J., Qu, Y., Curtis, M. and Patil, S.R. 1999. 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.

Abidi, F., Schwartz, C.E., Carpenter, N.J., Villard, L., Fontes, M. and Curtis, M. 1999. Carpenter-Waziri syndrome results from a mutation in XNP. Am. J. Med. Genet. 85:249-251.

Tackels, D., Carpenter, N.J., Miles, J.H. and Schwartz, C.E. 1999. Refined gene localization for the Miles-Carpenter syndrome. Am. J. Med. Genet. 85:221-222.

Qu, Y., Whetsell, L. and Carpenter, N.J. 1998. Technical pitfalls encountered in PCR quantification using microsatellites. Genetic Testing 1:213-215.

Grody, W.W., Desnick, R.J., Carpenter, N.J. and Noll, W.W. 1998. Diversity of cystic fibrosis mutation screening practices. Am. J. Hum. Genet. 62:1252-1254.

Say, B. and Carpenter, N.J. 1998. Pulmonary Agenesis: Importance of detailed cytogenetic studies. Am. J. Med. Genet. 76:446.

Velagaleti, G.V.N., Carpenter, N.J. and Tharapel, A.T. 1997. Clinical applications of primed in situ labelling (PRINS): Rapid identification of a marker chromosome in a fetus. Ann. Genet. 40:154-157.

Velagaleti, G.V.N., Harris, S., Carpenter, N.J., Coldwell, J. and Say, B. 1997. Familial deletion of chromosome 18 (p11.2). Ann. Genet. 39:201-204.