Smith AC - Search Results

1

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.

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

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.

4

Craniofacial and dental phenotype of Smith-Magenis syndrome.

Tomona N, Smith AC, Guadagnini JP, Hart TC. Tomona N, et al. Among authors: smith ac. Am J Med Genet A. 2006 Dec 1;140(23):2556-61. doi: 10.1002/ajmg.a.31371. Am J Med Genet A. 2006. PMID: 17001665

5

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.

6

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.

7

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.

8

Otologic and audiologic manifestations of Hutchinson-Gilford progeria syndrome.

Guardiani E, Zalewski C, Brewer C, Merideth M, Introne W, Smith AC, Gordon L, Gahl W, Kim HJ. Guardiani E, et al. Among authors: smith ac. Laryngoscope. 2011 Oct;121(10):2250-5. doi: 10.1002/lary.22151. Epub 2011 Sep 6. Laryngoscope. 2011. PMID: 21898437 Free PMC article.

9

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

Yeetong P, Vilboux T, Ciccone C, Boulier K, Schnur RE, Gahl WA, Huizing M, Laje G, Smith AC. Yeetong P, et al. Among authors: smith ac. Am J Med Genet A. 2016 Sep;170(9):2383-8. doi: 10.1002/ajmg.a.37602. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27311559 Free PMC article.

10

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program; Gahl WA, Huizing M, Smith ACM. Berger SI, et al. Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17. Hum Genet. 2017. PMID: 28213671 Free PMC article.

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