33811726 16647992 9084941 33368193 20500065 29138588 27386852 9613860 21204793 24311450 24773319 11997339 12362041 21545756 9613859 17351481 9096764 27683195 7666403 27617127 15746488 8682501 9132137 9674897 9326934 1341967 17914318 8882782 8599375 3 - Search Results

Year	Number of Results
1992	1
1994	1
1995	7
1996	6
1997	6
1998	8
2000	1
2001	3
2002	4
2003	1
2004	2
2005	3
2006	2
2007	4
2008	1
2009	1
2010	2
2011	3
2013	3
2014	3
2015	2
2016	3
2017	2
2021	2
2022	1

1

Smith-Magenis syndrome: Report of morphological and new functional cardiac findings with review of the literature.

Onesimo R, Versacci P, Delogu AB, De Rosa G, Pugnaloni F, Blandino R, Leoni C, Calcagni G, Digilio MC, Zollino M, Marino B, Zampino G. Onesimo R, et al. Am J Med Genet A. 2021 Jul;185(7):2003-2011. doi: 10.1002/ajmg.a.62196. Epub 2021 Apr 3. Am J Med Genet A. 2021. PMID: 33811726

2

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

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

3

Chromosome deletion 17p11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile-X investigation.

Behjati F, Mullarkey M, Bergbaum A, Berry AC, Docherty Z. Behjati F, et al. Clin Genet. 1997 Jan;51(1):71-4. doi: 10.1111/j.1399-0004.1997.tb02420.x. Clin Genet. 1997. PMID: 9084941

4

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Rive Le Gouard N, Jacquinet A, Ruaud L, Deleersnyder H, Ageorges F, Gallard J, Lacombe D, Odent S, Mikaty M, Manouvrier-Hanu S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Héron D, Rastel C, Chancenotte S, Thauvin-Robinet C, Faivre L, Perrin L, Verloes A. Rive Le Gouard N, et al. Clin Genet. 2021 Apr;99(4):519-528. doi: 10.1111/cge.13906. Epub 2021 Jan 5. Clin Genet. 2021. PMID: 33368193

5

A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications.

Petrin AL, Daack-Hirsch S, L'Heureux J, Murray JC. Petrin AL, et al. Cleft Palate Craniofac J. 2011 Mar;48(2):222-30. doi: 10.1597/09-149. Epub 2010 May 4. Cleft Palate Craniofac J. 2011. PMID: 20500065 Free PMC article.

6

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

Falco M, Amabile S, Acquaviva F. Falco M, et al. Appl Clin Genet. 2017 Nov 3;10:85-94. doi: 10.2147/TACG.S128455. eCollection 2017. Appl Clin Genet. 2017. PMID: 29138588 Free PMC article. Review.

7

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Yuan B, Neira J, Gu S, Harel T, Liu P, Briceño I, Elsea SH, Gómez A, Potocki L, Lupski JR. Yuan B, et al. Hum Genet. 2016 Oct;135(10):1161-74. doi: 10.1007/s00439-016-1703-5. Epub 2016 Jul 7. Hum Genet. 2016. PMID: 27386852 Free PMC article.

8

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

9

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.

Willemsen MH, Beunders G, Callaghan M, de Leeuw N, Nillesen WM, Yntema HG, van Hagen JM, Nieuwint AW, Morrison N, Keijzers-Vloet ST, Hoischen A, Brunner HG, Tolmie J, Kleefstra T. Willemsen MH, et al. Clin Genet. 2011 Jul;80(1):31-8. doi: 10.1111/j.1399-0004.2010.01607.x. Epub 2011 Jan 10. Clin Genet. 2011. PMID: 21204793

10

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.

Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. Magoulas PL, et al. Am J Med Genet A. 2014 Feb;164A(2):500-4. doi: 10.1002/ajmg.a.36287. Epub 2013 Dec 5. Am J Med Genet A. 2014. PMID: 24311450 Review.

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