Scott CI Jr - Search Results

1

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

Baratela WA, Bober MB, Tiller GE, Okenfuss E, Ditro C, Duker A, Krakow D, Stabley DL, Sol-Church K, Mackenzie W, Lachman R, Scott CI Jr. Baratela WA, et al. Among authors: scott ci jr. Am J Med Genet A. 2012 Aug;158A(8):1815-22. doi: 10.1002/ajmg.a.35445. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711505 Free PMC article.

2

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI Jr, Steinberg GK. Bober MB, et al. Among authors: scott ci jr. Am J Med Genet A. 2010 Apr;152A(4):960-5. doi: 10.1002/ajmg.a.33252. Am J Med Genet A. 2010. PMID: 20358609

3

Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.

Gripp KW, Johnson C, Scott CI Jr, Nicholson L, Bober M, Butler MG, Shaw L, Gorlin RJ. Gripp KW, et al. Among authors: scott ci jr. Am J Med Genet A. 2008 Feb 15;146A(4):468-73. doi: 10.1002/ajmg.a.32155. Am J Med Genet A. 2008. PMID: 18203204 Free PMC article. Review.

4

Cervical spinal stenosis in metatropic dysplasia.

Leet AI, Sampath JS, Scott CI Jr, MacKenzie WG. Leet AI, et al. Among authors: scott ci jr. J Pediatr Orthop. 2006 May-Jun;26(3):347-52. doi: 10.1097/01.bpo.0000214923.95314.ad. J Pediatr Orthop. 2006. PMID: 16670547

5

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI Jr, Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K. Gripp KW, et al. Among authors: scott ci jr. Am J Med Genet A. 2006 Jan 1;140(1):1-7. doi: 10.1002/ajmg.a.31047. Am J Med Genet A. 2006. PMID: 16329078

6

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI. Hall JG, et al. Among authors: scott ci jr. Am J Med Genet A. 2004 Sep 15;130A(1):55-72. doi: 10.1002/ajmg.a.30203. Am J Med Genet A. 2004. PMID: 15368497 Review.

7

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).

Tsirikos AI, Mason DE, Scott CI Jr, Chang WN. Tsirikos AI, et al. Among authors: scott ci jr. Am J Med Genet A. 2003 Jun 15;119A(3):386-90. doi: 10.1002/ajmg.a.20061. Am J Med Genet A. 2003. PMID: 12784311

8

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

Ross JL, Bellus G, Scott CI Jr, Abboudi J, Grigelioniene G, Zinn AR. Ross JL, et al. Among authors: scott ci jr. Am J Med Genet A. 2003 Jan 1;116A(1):61-5. doi: 10.1002/ajmg.a.10807. Am J Med Genet A. 2003. PMID: 12476453

9

Further delineation of cardiac abnormalities in Costello syndrome.

Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI Jr, Nicholson L. Lin AE, et al. Among authors: scott ci jr. Am J Med Genet. 2002 Aug 1;111(2):115-29. doi: 10.1002/ajmg.10558. Am J Med Genet. 2002. PMID: 12210337 Review.

10

Complete SHOX deficiency causes Langer mesomelic dysplasia.

Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL. Zinn AR, et al. Among authors: scott ci jr. Am J Med Genet. 2002 Jun 15;110(2):158-63. doi: 10.1002/ajmg.10422. Am J Med Genet. 2002. PMID: 12116254

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