3p25.3 microdeletion of GABA transportersSLC6A1andSLC6A11results in intellectual disability, epilepsy and stereotypic behavior

A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein–Taybi syndrome

(2014) Johanna Christina Czeschik et al.   CLINICAL DYSMORPHOLOGY

Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region

(2013) Gregory Kellogg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects

(2012) Christine Ackerman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microdeletion on 3p25 in a patient with features of 3p deletion syndrome

(2012) Iskra T. Peltekova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability

(2012) Angelika Riess et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1

(2010) Cecilia Gunnarsson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microarray based analysis of 3p25-p26 deletions (3p- syndrome)

(2009) Salwati Shuib et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Enhanced tonic GABAA inhibition in typical absence epilepsy

(2009) David W Cope et al.   NATURE MEDICINE

Twenty-one-base-pair insertion polymorphism creates an enhancer element and potentiates SLC6A1 GABA transporter promoter activity

(2008) Rungnapa Hirunsatit et al.   Pharmacogenetics and Genomics