Smith ACM - Search Results

1

A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.

Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM. Vocke CD, et al. Among authors: smith acm. Am J Med Genet A. 2023 Feb;191(2):490-497. doi: 10.1002/ajmg.a.63049. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36513625 Free PMC article.

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

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. 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

6

Craniofacial and dental phenotype of Smith-Magenis syndrome.

Tomona N, Smith AC, Guadagnini JP, Hart TC. Tomona N, et al. 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

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. 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

Autism spectrum features in Smith-Magenis syndrome.

Laje G, Morse R, Richter W, Ball J, Pao M, Smith AC. Laje G, et al. 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.

9

Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome.

Laje G, Bernert R, Morse R, Pao M, Smith AC. Laje G, et al. 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.

10

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. PLoS One. 2011;6(8):e22861. doi: 10.1371/journal.pone.0022861. Epub 2011 Aug 8. PLoS One. 2011. PMID: 21857958 Free PMC article.

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