Smith AC - Search Results

1

New developments in Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Elsea S, Duncan WC Jr, Smith AC. Gropman AL, et al. Among authors: smith ac. Curr Opin Neurol. 2007 Apr;20(2):125-34. doi: 10.1097/WCO.0b013e3280895dba. Curr Opin Neurol. 2007. PMID: 17351481 Review.

2

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.

3

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.

Vlangos CN, Wilson M, Blancato J, Smith AC, Elsea SH. Vlangos CN, et al. Among authors: smith ac. Am J Med Genet A. 2005 Jan 30;132A(3):278-82. doi: 10.1002/ajmg.a.30461. Am J Med Genet A. 2005. PMID: 15690371

4

Overview of Smith-Magenis syndrome.

Smith AC, Magenis RE, Elsea SH. Smith AC, et al. J Assoc Genet Technol. 2005;31(4):163-7. J Assoc Genet Technol. 2005. PMID: 16354942

5

Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).

Gropman AL, Duncan WC, Smith AC. Gropman AL, et al. Among authors: smith ac. Pediatr Neurol. 2006 May;34(5):337-50. doi: 10.1016/j.pediatrneurol.2005.08.018. Pediatr Neurol. 2006. PMID: 16647992 Review.

6

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Edelman EA, Girirajan S, Finucane B, Patel PI, Lupski JR, Smith AC, Elsea SH. Edelman EA, et al. Among authors: smith ac. Clin Genet. 2007 Jun;71(6):540-50. doi: 10.1111/j.1399-0004.2007.00815.x. Clin Genet. 2007. PMID: 17539903

7

Phenotype and course of Hutchinson-Gilford progeria syndrome.

Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. Merideth MA, et al. Among authors: smith ac. N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898. N Engl J Med. 2008. PMID: 18256394 Free PMC article.

8

Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.

Truong HT, Solaymani-Kohal S, Baker KR, Girirajan S, Williams SR, Vlangos CN, Smith AC, Bunyan DJ, Roffey PE, Blanchard CL, Elsea SH. Truong HT, et al. Among authors: smith ac. Genet Test. 2008 Mar;12(1):67-73. doi: 10.1089/gte.2007.0058. Genet Test. 2008. PMID: 18373405

9

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.

10

Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome.

Wolters PL, Gropman AL, Martin SC, Smith MR, Hildenbrand HL, Brewer CC, Smith AC. Wolters PL, et al. Among authors: smith ac, smith mr. Pediatr Neurol. 2009 Oct;41(4):250-8. doi: 10.1016/j.pediatrneurol.2009.04.015. Pediatr Neurol. 2009. PMID: 19748044 Free PMC article.

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