SMSRF increases research commitment
March 17, 2015 5:11 am Leave your thoughtsSmith-Magenis Syndrome Research Foundation ups research commitment Houston, TX – Mar 4, 2015 A little more than a year after announcing the dedication... Read More
Author Archives for Paul Diamond
Article: Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus
October 4, 2014 2:19 am Leave your thoughtsRetinoic acid induced-1 (RAI1) is an important yet understudied histone code reader that when mutated in humans results in Smith–Magenis syndrome (SMS), a neurobehavioral disorder accompanied by signature craniofacial abnormalities.
Article: MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes
October 4, 2014 2:12 am Leave your thoughtsIndividuals with autism spectrum disorders (ASD) who have an identifiable single-gene neurodevelopmental disorder (NDD), such as fragile X syndrome (FXS, FMR1), Smith–Magenis syndrome (SMS, RAI1), or 2q23.1 deletion syndrome (del 2q23.1, MBD5) share phenotypic features, including a high prevalence of sleep disturbance.
Article: Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for Rai1
October 4, 2014 1:08 am Leave your thoughtsA new article detailing the effect of RAI1 and obesity in mice.
“Pas a Pas avec Alexia” partners with SMS RF
October 1, 2014 1:41 am Leave your thoughtsWe are honored to announce a partnership with “Pas a Pas avec Alexia” in France. This is the first international... Read More
The Longman Family
June 6, 2010 3:24 am Leave your thoughtsA Video from the Longman Family of Florida and how SMS impacts their lives.