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

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

(2010) Feng Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

(2010) Stephen R. Williams et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome

(2010) Gonzalo Laje et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

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

(2010) Hoa T Truong et al.   BMC Medical Genetics

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome

(2010) Paulina Carmona-Mora et al.   BMC MOLECULAR BIOLOGY

Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome

(2010) Brooke Burns et al.   HUMAN MOLECULAR GENETICS

Cognitive and Behavioral Characterization of the Potocki-Lupski Syndrome (Duplication 17p11.2)

(2010) Diane E. Treadwell-Deering et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Diversity of Human Copy Number Variation and Multicopy Genes

(2010) Peter H. Sudmant et al.   SCIENCE

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

(2010) Guénola Ricard et al.   PLOS BIOLOGY

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

(2009) Eilis A. Boudreau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A functional network module for Smith-Magenis syndrome

(2009) S Girirajan et al.   CLINICAL GENETICS

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay

(2009) S. R. Williams et al.   JOURNAL OF MEDICAL GENETICS

Abnormal maternal behavior, altered sociability, and impaired serotonin metabolism in Rai1-transgenic mice

(2009) Santhosh Girirajan et al.   MAMMALIAN GENOME

Time of feeding and the intrinsic circadian clock drive rhythms in hepatic gene expression

(2009) Christopher Vollmers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Up-regulating BDNF with an ampakine rescues synaptic plasticity and memory in Huntington's disease knockin mice

(2009) D. A. Simmons et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The array CGH and its clinical applications

(2008) Marwan Shinawi et al.   DRUG DISCOVERY TODAY

How much is too much? Phenotypic consequences of Rai1 overexpression in mice

(2008) Santhosh Girirajan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Smith–Magenis syndrome

(2008) Sarah H Elsea et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome

(2008) Jessica Molina et al.   HUMAN MOLECULAR GENETICS

Variation in brain-derived neurotrophic factor (BDNF) gene is associated with symptoms of depression

(2008) Laramie E. Duncan et al.   JOURNAL OF AFFECTIVE DISORDERS

Ampakines cause sustained increases in brain-derived neurotrophic factor signaling at excitatory synapses without changes in AMPA receptor subunit expression

(2008) J.C. Lauterborn et al.   NEUROSCIENCE