CharlesI.ScottJr.MD

PubMed

• A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.
  Baratela, W. A., Bober, M. B., Tiller, G. E., Okenfuss, E., Ditro, C., Duker, A., Krakow, D., Stabley, D. L., Sol-Church, K., Mackenzie, W., Lachman, R., Scott, C. I.> ;Am J Med Genet A. 2012 Aug
• Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.
  Bober, M.B., Khan, N., Kaplan, J., Lewis, K., Feinstein, J.A., Scott, C.I., Steinberg, G.K.> ;Am J Med Genet A. 2010 Apr
• Age-appropriate body mass index in children with achondroplasia: interpretation in relation to indexes of height.
  Hoover-Fong, J.E., Schulze, K.J., McGready, J., Barnes, H., Scott, C.I.> ;Am J Clin Nutr. 2008 Aug
• Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.
  Gripp, K.W., Johnson, C., Scott, C.I., Nicholson, L., Bober, M., Butler, M.G., Shaw, L., Gorlin, R.J.> ;Am J Med Genet A. 2008 Feb 15
• Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
  Robertson, S. P., Jenkins, Z. A., Morgan, T., Adès, L., Aftimos, S., Boute, O., Fiskerstrand, T., Garcia-Miñaur, S., Grix, A., Green, A., Der Kaloustian, V., Lewkonia,...> ;Am J Med Genet A. 2006 Aug 15
• Cervical spinal stenosis in metatropic dysplasia.
  Leet, A.I., Sampath, J.S., Scott, C.I., MacKenzie, W.G.> ;J Pediatr Orthop. 2006-05-01
• HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
  Gripp, K.W., Lin, A.E., Stabley, D.L., Nicholson, L., Scott, C.I., Doyle, D., Aoki, Y., Matsubara, Y., Zackai, E.H., Lapunzina, P., Gonzalez-Meneses, A., Holbrook, J.,...> ;Am J Med Genet A. 2006 Jan 1
• Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.
  Hall, J.G., Flora, C., Scott, C.I., Pauli, R.M., Tanaka, K.I.> ;Am J Med Genet A. 2004 Sep 15
• Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).
  Tsirikos, A.I., Mason, D.E., Scott, C.I., Chang, W.> ;Am J Med Genet A. 2003 Jun 15
• Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.
  Ross, J.L., Bellus, G., Scott, C.I., Abboudi, J., Grigelioniene, G., Zinn, A.R.> ;Am J Med Genet A. 2003 Jan 1
• Further delineation of cardiac abnormalities in Costello syndrome.
  Lin, A.E., Grossfeld, P.D., Hamilton, R.M., Smoot, L., Gripp, K.W., Proud, V., Weksberg, R., Wheeler, P., Picker, J., Irons, M., Zackai, E., Marino, B., Scott, C.I., N...> ;Am J Med Genet. 2002 Aug 1
• Complete SHOX deficiency causes Langer mesomelic dysplasia.
  Zinn, A.R., Wei, F., Zhang, L., Elder, F.F., Scott, C.I., Marttila, P., Ross, J.L.> ;Am J Med Genet. 2002 Jun 15
• Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.
  Gripp, K.W., Scott, C.I., Nicholson, L., McDonald-McGinn, D.M., Ozeran, J.D., Jones, M.C., Lin, A.E., Zackai, E.H.> ;Am J Med Genet. 2002 Feb 15
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