Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity-Reference-Cited by-同舟云学术

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Published:2012-06 Issue:6 Volume:90 Page:941-949
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Williams Stephen R.,Zies Deborah,Mullegama Sureni V.,Grotewiel Michael S.,Elsea Sarah H.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference42 articles.

1. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2);Greenberg;Am. J. Med. Genet.,1996

2. Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2);Smith;Am. J. Med. Genet.,1998

3. New developments in Smith-Magenis syndrome (del 17p11.2);Gropman;Curr. Opin. Neurol.,2007

4. Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion;Boudreau;Am. J. Med. Genet. A.,2009

5. Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: From symptoms to treatment;De Leersnyder;Trends Endocrinol. Metab.,2006

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