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Items: 1 to 20 of 37

1.

Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.

Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH.

Am J Hum Genet. 2012 Jun 8;90(6):941-9. doi: 10.1016/j.ajhg.2012.04.013. Epub 2012 May 10.

2.

Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.

Elsea SH, Williams SR.

Expert Rev Mol Med. 2011 Apr 19;13:e14. doi: 10.1017/S1462399411001827. Review.

PMID:
21545756
3.

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.

Chen L, Mullegama SV, Alaimo JT, Elsea SH.

Dev Period Med. 2015 Apr-Jun;19(2):149-56. Review.

4.

Smith-Magenis syndrome.

De Leersnyder H.

Handb Clin Neurol. 2013;111:295-6. doi: 10.1016/B978-0-444-52891-9.00034-8. Review.

PMID:
23622179
5.

Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment.

De Leersnyder H.

Trends Endocrinol Metab. 2006 Sep;17(7):291-8. Epub 2006 Aug 4. Review.

PMID:
16890450
6.

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.

Truong HT, Dudding T, Blanchard CL, Elsea SH.

BMC Med Genet. 2010 Oct 8;11:142. doi: 10.1186/1471-2350-11-142. Review.

7.

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

Gropman AL, Elsea S, Duncan WC Jr, Smith AC.

Curr Opin Neurol. 2007 Apr;20(2):125-34. Review.

PMID:
17351481
8.

Smith-Magenis syndrome.

Elsea SH, Girirajan S.

Eur J Hum Genet. 2008 Apr;16(4):412-21. doi: 10.1038/sj.ejhg.5202009. Epub 2008 Jan 30. Review.

9.

Transcriptional feedback oscillators: maybe, maybe not...

Lakin-Thomas PL.

J Biol Rhythms. 2006 Apr;21(2):83-92. Review.

PMID:
16603673
10.

[Optimization of the dosage schedule for sustaining intrinsic biological rhythms].

Koyanagi S.

Yakugaku Zasshi. 2003 Sep;123(9):789-97. Review. Japanese.

11.

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].

Stembalska A, Jakubiak A, Śmigiel R.

Med Wieku Rozwoj. 2012 Apr-Jun;16(2):138-43. Review. Polish.

12.

Mechanisms of rapid antidepressant effects of sleep deprivation therapy: clock genes and circadian rhythms.

Bunney BG, Bunney WE.

Biol Psychiatry. 2013 Jun 15;73(12):1164-71. doi: 10.1016/j.biopsych.2012.07.020. Epub 2012 Aug 18. Review.

PMID:
22906517
13.

The role of circadian clock genes in mental disorders.

Lamont EW, Legault-Coutu D, Cermakian N, Boivin DB.

Dialogues Clin Neurosci. 2007;9(3):333-42. Review.

14.

Congenital scoliosis in Smith-Magenis syndrome: a case report and review of the literature.

Li Z, Shen J, Liang J, Sheng L.

Medicine (Baltimore). 2015 May;94(17):e705. doi: 10.1097/MD.0000000000000705. Review.

15.

Molecular genetics of timing in intrinsic circadian rhythm sleep disorders.

Wijnen H, Boothroyd C, Young MW, Claridge-Chang A.

Ann Med. 2002;34(5):386-93. Review.

PMID:
12452482
16.

Circadian rhythms, the molecular clock, and skeletal muscle.

Lefta M, Wolff G, Esser KA.

Curr Top Dev Biol. 2011;96:231-71. doi: 10.1016/B978-0-12-385940-2.00009-7. Review.

17.

Clock genes: their role in colorectal cancer.

Karantanos T, Theodoropoulos G, Pektasides D, Gazouli M.

World J Gastroenterol. 2014 Feb 28;20(8):1986-92. doi: 10.3748/wjg.v20.i8.1986. Review.

18.

Circadian disruption in the pathogenesis of metabolic syndrome.

Maury E, Hong HK, Bass J.

Diabetes Metab. 2014 Nov;40(5):338-46. doi: 10.1016/j.diabet.2013.12.005. Epub 2014 Jan 14. Review.

PMID:
24433933
19.

When clocks go bad: neurobehavioural consequences of disrupted circadian timing.

Barnard AR, Nolan PM.

PLoS Genet. 2008 May 30;4(5):e1000040. doi: 10.1371/journal.pgen.1000040. Review.

20.

Clock regulation of dietary lipid absorption.

Hussain MM, Pan X.

Curr Opin Clin Nutr Metab Care. 2012 Jul;15(4):336-41. doi: 10.1097/MCO.0b013e3283548629. Review.

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