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Items: 1 to 20 of 77

1.

Callosotomy in a girl with refractory epilepsy and Smith-Magenis syndrome.

Salinas-Torres VM, Domínguez MG, Ornelas-Arana ML, Rivera H.

Genet Couns. 2013;24(2):239-42. No abstract available.

PMID:
24032296
2.

Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome.

Lee CG, Park SJ, Yun JN, Yim SY, Sohn YB.

J Korean Med Sci. 2012 Dec;27(12):1586-90. doi: 10.3346/jkms.2012.27.12.1586. Epub 2012 Dec 7.

3.

[Sleep disturbances in Smith-Magenis syndrome: treatment with melatonin and beta-adrenergic antagonists].

Van Thillo A, Devriendt K, Willekens D.

Tijdschr Psychiatr. 2010;52(10):719-23. Dutch.

4.

Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.

Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek AM.

Am J Med Genet A. 2011 Nov;155A(11):2816-20. doi: 10.1002/ajmg.a.34247. Epub 2011 Sep 30.

PMID:
21965155
5.

A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.

Tug E, Cine N, Aydin H.

Genet Couns. 2011;22(1):11-9.

PMID:
21614983
6.

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.

Vieira GH, Rodriguez JD, Boy R, de Paiva IS, DuPont BR, Moretti-Ferreira D, Srivastava AK.

Am J Med Genet A. 2011 May;155A(5):988-92. doi: 10.1002/ajmg.a.33960. Epub 2011 Apr 7. No abstract available.

PMID:
21480478
7.

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients.

Gamba BF, Vieira GH, Souza DH, Monteiro FF, Lorenzini JJ, Carvalho DR, Morreti-Ferreira D.

Genet Mol Res. 2011 Oct 31;10(4):2664-70. doi: 10.4238/2011.October.31.17.

8.

The nature of social preference and interactions in Smith-Magenis syndrome.

Wilde L, Silva D, Oliver C.

Res Dev Disabil. 2013 Dec;34(12):4355-65. doi: 10.1016/j.ridd.2013.09.014. Epub 2013 Oct 9.

PMID:
24120292
9.
10.

Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism.

Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL.

Brain Dev. 2012 Sep;34(8):700-3. doi: 10.1016/j.braindev.2011.11.003. Epub 2011 Dec 16.

11.

Daytime somnolence in an adult with Smith-Magenis syndrome.

Takenouchi T, Saito H, Oishi N, Fukushima H, Kosaki R, Torii C, Takahashi T, Kenjiro K.

Am J Med Genet A. 2013 Jul;161A(7):1803-5. doi: 10.1002/ajmg.a.35936. Epub 2013 May 17. No abstract available.

PMID:
23687097
12.

Siblings with refractory occipital epilepsy showing localized network activity on EEG-fMRI.

Carney PW, Harvey AS, Berkovic SF, Jackson GD, Scheffer IE.

Epilepsia. 2013 Feb;54(2):e28-32. doi: 10.1111/epi.12076. Epub 2013 Jan 7.

13.

Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.

Huang C, Yang YF, Zhang H, Xie L, Chen JL, Wang J, Tan ZP, Luo H.

Genet Mol Res. 2012 Aug 13;11(3):2321-7. doi: 10.4238/2012.August.13.5.

14.

Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome.

Wilde L, Mitchell A, Oliver C.

J Autism Dev Disord. 2016 Jun;46(6):2148-59. doi: 10.1007/s10803-016-2743-3.

PMID:
26983920
15.

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

Hildenbrand HL, Smith AC.

Phys Occup Ther Pediatr. 2012 Feb;32(1):48-65. doi: 10.3109/01942638.2011.572152. Epub 2011 May 23.

PMID:
21599572
16.

[Idiopathic partial epilepsies in children (benign or primary partial epilepsies)].

Roger J, Bureau M.

Rev Neurol (Paris). 1987;143(5):381-91. French.

PMID:
3116638
17.

Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsy.

Valetto A, Bertini V, Bonuccelli A, Veroni F, Simi P, Taddeucci G.

Epilepsy Res. 2009 Sep;86(1):89-93. doi: 10.1016/j.eplepsyres.2009.05.005. Epub 2009 Jun 17.

PMID:
19539447
18.

Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy.

Einspieler C, Hirota H, Yuge M, Dejima S, Marschik PB.

Dev Neurorehabil. 2012;15(4):313-6. doi: 10.3109/17518423.2011.654281. Epub 2012 Jun 22.

PMID:
22724898
19.

Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.

Kinton L, Johnson MR, Smith SJ, Farrell F, Stevens J, Rance JB, Claudino AM, Duncan JS, Davis MB, Wood NW, Sander JW.

Ann Neurol. 2002 Jun;51(6):740-9.

PMID:
12112080
20.

Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.

Yusupov R, Roberts AE, Lacro RV, Sandstrom M, Ligon AH.

Am J Med Genet A. 2011 Feb;155A(2):367-71. doi: 10.1002/ajmg.a.33845.

PMID:
21271656

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