Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

por Willing, M C, Cohn, D H, Byers, P H
Publicado 1990

Osteogenesis imperfecta: translation of mutation to phenotype.

por Byers, P H, Wallis, G A, Willing, M C
Publicado 1991

Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.

por Willing, M C, Slayton, R L, Pitts, S H, Deschenes, S P
Publicado 1995

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

por Willing, M C, Pruchno, C J, Atkinson, M, Byers, P H
Publicado 1992

Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.

por Willing, M. C., Deschenes, S. P., Slayton, R. L., Roberts, E. J.
Publicado 1996

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.

por Wenstrup, R J, Willing, M C, Starman, B J, Byers, P H
Publicado 1990

COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS.

por Wenstrup, R J, Florer, J B, Willing, M C, Giunta, C, Steinmann, B, Young, F, Susic, M, Cole, W G
Publicado 2000

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

por Willing, M. C., Deschenes, S. P., Scott, D. A., Byers, P. H., Slayton, R. L., Pitts, S. H., Arikat, H., Roberts, E. J.
Publicado 1994

Genetic Association of MMP10, MMP14, and MMP16 with Dental Caries

por Lewis, D. D., Shaffer, J. R., Feingold, E., Cooper, M., Vanyukov, M. M., Maher, B. S., Slayton, R. L., Willing, M. C., Reis, S. E., McNeil, D. W., Crout, R. J., Weyant, R. J., Levy, S. M., Vieira, A. R., Marazita, M. L.
Publicado en Int J Dent (2017)

Genetic Association of MPPED2 and ACTN2 with Dental Caries

por Stanley, B.O.C., Feingold, E., Cooper, M., Vanyukov, M.M., Maher, B.S., Slayton, R.L., Willing, M.C., Reis, S.E., McNeil, D.W., Crout, R.J., Weyant, R.J., Levy, S.M., Vieira, A.R., Marazita, M.L., Shaffer, J.R.
Publicado 2014

Genome-wide Association Scan for Childhood Caries Implicates Novel Genes

por Shaffer, J.R., Wang, X., Feingold, E., Lee, M., Begum, F., Weeks, D.E., Cuenco, K.T., Barmada, M.M., Wendell, S.K., Crosslin, D.R., Laurie, C.C., Doheny, K.F., Pugh, E.W., Zhang, Q., Feenstra, B., Geller, F., Boyd, H.A., Zhang, H., Melbye, M., Murray, J.C., Weyant, R.J., Crout, R., McNeil, D.W., Levy, S.M., Slayton, R.L., Willing, M.C., Broffitt, B., Vieira, A.R., Marazita, M.L.
Publicado 2011