Metabolic abnormalities in Williams–Beuren syndrome

Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder

(2014) Maria Segura-Puimedon et al.   HUMAN MOLECULAR GENETICS

Serum Bilirubin Concentration in Healthy Adult North-Europeans Is Strictly Controlled by the UGT1A1 TA-Repeat Variants

(2014) Marianne K. Kringen et al.   PLoS One

UGT1A1 Genetic Analysis as a Diagnostic Aid for Individuals with Unconjugated Hyperbilirubinemia

(2013) Jennifer M. Skierka et al.   JOURNAL OF PEDIATRICS

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects

(2012) Carina Rodrigues et al.   BLOOD CELLS MOLECULES AND DISEASES

Association between bilirubin and cardiovascular disease risk factors: using Mendelian randomization to assess causal inference

(2012) Patrick F McArdle et al.   BMC Cardiovascular Disorders

Reduced circulating oxidized LDL is associated with hypocholesterolemia and enhanced thiol status in Gilbert syndrome

(2012) Ai-Ching Boon et al.   FREE RADICAL BIOLOGY AND MEDICINE

Magnitud y manejo de la hipercolesterolemia en la población adulta de España, 2008-2010: el estudio ENRICA

(2012) Pilar Guallar-Castillón et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome

(2012) Victoria Campuzano et al.   PLoS Genetics

Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome

(2011) Nicole Philip et al.   BEHAVIOR GENETICS

Altered Islet Composition and Disproportionate Loss of Large Islets in Patients with Type 2 Diabetes

(2011) German Kilimnik et al.   PLoS One

High prevalence of diabetes and pre-diabetes in adults with Williams syndrome

(2010) B.R. Pober et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Transcriptome profile in Williams–Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits

(2010) Anna Antonell et al.   HUMAN GENETICS

Williams–Beuren Syndrome

(2010) Barbara R. Pober   NEW ENGLAND JOURNAL OF MEDICINE

Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers

(2009) Katrin Borucki et al.   CLINICAL BIOCHEMISTRY

Induced chromosome deletions cause hypersociability and other features of Williams-Beuren syndrome in mice

(2009) Hong Hua Li et al.   EMBO Molecular Medicine

Genome-wide association meta-analysis for total serum bilirubin levels

(2009) A. D. Johnson et al.   HUMAN MOLECULAR GENETICS

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile

(2009) A. Antonell et al.   JOURNAL OF MEDICAL GENETICS

ChREBP: A Glucose-activated Transcription Factor Involved in the Development of Metabolic Syndrome

(2008) Katsumi IIZUKA et al.   ENDOCRINE JOURNAL

Common variants at 30 loci contribute to polygenic dyslipidemia

(2008) Sekar Kathiresan et al.   NATURE GENETICS

Newly identified loci that influence lipid concentrations and risk of coronary artery disease

(2008) Cristen J Willer et al.   NATURE GENETICS

Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides

(2008) Jaspal S Kooner et al.   NATURE GENETICS

Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

(2008) Yurii S Aulchenko et al.   NATURE GENETICS