Smith AC - Search Results

1

Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).

Yang J, Chandrasekharappa SC, Vilboux T, Smith AC, Peterson EJ. Yang J, et al. Among authors: smith ac. J Clin Rheumatol. 2014 Aug;20(5):291-3. doi: 10.1097/RHU.0000000000000118. J Clin Rheumatol. 2014. PMID: 25036569 Free PMC article. Review.

2

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).

Smith AC, Dykens E, Greenberg F. Smith AC, et al. Am J Med Genet. 1998 Mar 28;81(2):179-85. doi: 10.1002/(sici)1096-8628(19980328)81:2<179::aid-ajmg10>3.0.co;2-e. Am J Med Genet. 1998. PMID: 9613859 Review.

3

Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2).

Smith AC, Dykens E, Greenberg F. Smith AC, et al. Am J Med Genet. 1998 Mar 28;81(2):186-91. Am J Med Genet. 1998. PMID: 9613860

4

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

Smith AC, Gropman AL, Bailey-Wilson JE, Goker-Alpan O, Elsea SH, Blancato J, Lupski JR, Potocki L. Smith AC, et al. Genet Med. 2002 May-Jun;4(3):118-25. doi: 10.1097/00125817-200205000-00004. Genet Med. 2002. PMID: 12180145 Free article.

5

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.

Boudreau EA, Johnson KP, Jackman AR, Blancato J, Huizing M, Bendavid C, Jones M, Chandrasekharappa SC, Lewy AJ, Smith AC, Magenis RE. Boudreau EA, et al. Among authors: smith ac. Am J Med Genet A. 2009 Jul;149A(7):1382-91. doi: 10.1002/ajmg.a.32846. Am J Med Genet A. 2009. PMID: 19530184 Free PMC article.

6

Autism spectrum features in Smith-Magenis syndrome.

Laje G, Morse R, Richter W, Ball J, Pao M, Smith AC. Laje G, et al. Among authors: smith ac. Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):456-62. doi: 10.1002/ajmg.c.30275. Am J Med Genet C Semin Med Genet. 2010. PMID: 20981775 Free PMC article.

7

Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.

Laje G, Bernert R, Morse R, Pao M, Smith AC. Laje G, et al. Among authors: smith ac. Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):463-8. doi: 10.1002/ajmg.c.30282. Am J Med Genet C Semin Med Genet. 2010. PMID: 20981776 Free PMC article.

8

Analysis of the sensory profile in children with Smith-Magenis syndrome.

Hildenbrand HL, Smith AC. Hildenbrand HL, et al. Among authors: smith ac. Phys Occup Ther Pediatr. 2012 Feb;32(1):48-65. doi: 10.3109/01942638.2011.572152. Epub 2011 May 23. Phys Occup Ther Pediatr. 2012. PMID: 21599572 Free PMC article.

9

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M. Vilboux T, et al. Among authors: smith ac. PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861. Epub 2011 Aug 8. PLoS One. 2011. PMID: 21857958 Free PMC article.

10

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA. Adams DR, et al. Among authors: smith ac. Mol Genet Metab. 2014 Nov;113(3):161-70. doi: 10.1016/j.ymgme.2014.04.001. Epub 2014 Apr 13. Mol Genet Metab. 2014. PMID: 24863970 Free PMC article.

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