Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on Chromosome 7q11.23

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I. The Neurocognitive Profile of Williams Syndrome: A Complex Pattern of Strengths and Weaknesses

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VI. Genome structure and cognitive map of Williams syndrome

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Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

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Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.

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A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23

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Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

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BAP-135, a target for Bruton’s tyrosine kinase in response to B cell receptor engagement

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A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

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Cognitive Functioning in Adults with Williams Syndrome

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A Novel Human Gene,WSTF,Is Deleted in Williams Syndrome

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A novel human homologue of the Drosophila frizzled wnt receptor gene binds wingless protein and is in the Williams syndrome deletion at 7q11.23

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Identification of Genes from a 500-kb Region at 7q11.23 That Is Commonly Deleted in Williams Syndrome Patients

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Increased gyrification in Williams syndrome: evidence using 3D MRI methods

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Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

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The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.

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Cognitive Functioning in Adults with Williams Syndrome

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A Novel Human GeneFKBP6Is Deleted in Williams Syndrome

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Delineation of 7q11.2 Deletions Associated with Williams–Beuren Syndrome and Mapping of a Repetitive Sequence to within and to Either Side of the Common Deletion

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Identification of a Novel Slow-Muscle-Fiber Enhancer Binding Protein, MusTRD1

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Increased gyrification in Williams syndrome: evidence using 3D MRI methods

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Isolation and characterization of BEN, a member of the TFII-I family of DNA-binding proteins containing distinct helix–loop–helix domains

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Identification of a Putative Transcription Factor Gene (WBSCR11) That Is Commonly Deleted in Williams–Beuren Syndrome

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WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog

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Identification of GTF2IRD1, a putative transcription factor within the Williams-Beuren syndrome deletion at 7q11.23

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Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23

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The BCL7 gene family: deletion of BCL7B in Williams syndrome

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Divergent human and mouse orthologs of a novel gene (WBSCR15/Wbscr15) reside within the genomic interval commonly deleted in Williams syndrome

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Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

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Williams syndrome

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Multisystem study of 20 older adults with Williams syndrome

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Symmetry of Cortical Folding Abnormalities in Williams Syndrome Revealed by Surface-Based Analyses

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Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

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Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior

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Copy number variants at Williams–Beuren syndrome 7q11.23 region

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Hyperacusis in Williams syndrome

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7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

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Oxytocin and vasopressin are dysregulated in Williams Syndrome, a genetic disorder affecting social behavior

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A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

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Hemizygosity at the NCF1 Gene in Patients with Williams-Beuren Syndrome Decreases Their Risk of Hypertension

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An atypical deletion of the Williams–Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

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Action of TFII-I Outside the Nucleus as an Inhibitor of Agonist-Induced Calcium Entry

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An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

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Reduced fear and aggression and altered serotonin metabolism in Gtf2ird1‐targeted mice

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Transcriptional control of cognitive development

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Is it Williams syndrome?GTF2IRD1implicated in visual–spatial construction andGTF2Iin sociability revealed by high resolution arrays

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Autism, language delay and mental retardation in a patient with 7q11 duplication

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Social Interaction Behaviors Discriminate Young Children With Autism and Williams Syndrome

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Biochemistry and biology of the inducible multifunctional transcription factor TFII-I: 10years later

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Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

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Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways

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Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

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The subcellular localization of the ChoRE-binding protein, encoded by the Williams–Beuren syndrome critical region gene 14, is regulated by 14-3-3

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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

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Transcriptome analysis reveals sexual disparities in gene expression in rat brain microvessels

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Presenting phenotype and clinical evaluation in a cohort of 22 Williams–Beuren syndrome patients

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Williams syndrome: Pediatric, neurologic, and cognitive development

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Civilian and Military Genetics: Nondiscrimination Policy in a Post-GINA World

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Relative sparing of primary auditory cortex in Williams Syndrome

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Anomalous sylvian fissure morphology in Williams syndrome

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Williams–Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase

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Pathophysiology of TFII-I: Old Guard Wearing New Hats

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Signal-induced functions of the transcription factor TFII-I

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Insights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome

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Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development

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The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome

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Identification of the TFII-I family target genes in the vertebrate genome

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Affective and Psychiatric Disorders in Celiac Disease

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Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders

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Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex

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Using Transcription Modules to Identify Expression Clusters Perturbed in Williams-Beuren Syndrome

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Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

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Mutation of Gtf2ird1 from the Williams–Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations

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Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome

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GTF2IRD2 is located in the Williams–Beuren syndrome critical region 7q11.23 and encodes a protein with two TFII-I-like helix–loop–helix repeats

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Negative Autoregulation of GTF2IRD1 in Williams-Beuren Syndrome via a Novel DNA Binding Mechanism

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Gtf2i and Gtf2ird1 mutation do not account for the full phenotypic effect of the Williams syndrome critical region in mouse models

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Mapping Genetically Controlled Neural Circuits of Social Behavior and Visuo-Motor Integration by a Preliminary Examination of Atypical Deletions with Williams Syndrome

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Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1 Knockout Mice

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William's syndrome: gene expression is related to parental origin and regional coordinate control

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Williams-Beuren syndrome: Determination of deletion size using quantitative real-time PCR

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Genetic Mapping of Brain Plasticity Across Development in Williams Syndrome: ERP Markers of Face and Language Processing

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Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome

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The contribution of GTF2I haploinsufficiency to Williams syndrome

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Genotype–phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams‐Beuren syndrome

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Challenges in Clinical Diagnosis of Williams-Beuren Syndrome in Sub-Saharan Africans: Case Reports from Cameroon

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Williams-Beuren Syndrome-associated Transcription Factor TFII-I Regulates Osteogenic Marker Genes

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Determination and Functional Analysis of the Consensus Binding Site for TFII-I Family Member BEN, Implicated in Williams-Beuren Syndrome*

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Innate frequency-discrimination hyperacuity in Williams-Beuren syndrome mice

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Medical overview and genetics of Williams-Beuren syndrome

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GTF2IRD1 regulates transcription by binding an evolutionarily conserved DNA motif ‘GUCE’

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Neuropsychological Genotype–Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review

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A Different Brain: Anomalies of Functional and Structural Connections in Williams Syndrome

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Atypical 7q11.23 deletions excluding ELN gene result in Williams–Beuren syndrome craniofacial features and neurocognitive profile

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Comparing Two Diagnostic Laboratory Tests for Williams Syndrome: Fluorescent In Situ Hybridization versus Multiplex Ligation-Dependent Probe Amplification

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Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2

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A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome

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Atypical Deletion in Williams–Beuren Syndrome Critical Region Detected by MLPA in a Patient with Supravalvular Aortic Stenosis and Learning Difficulty

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Transcription Factor TFII-I Conducts a Cytoplasmic Orchestra

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Williams-Beuren Syndrome

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Autism, language delay and mental retardation in a patient with 7q11 duplication

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An Exploration of Social Cognition in Children with Different Degrees of Genetic Deletion in Williams Syndrome

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SUMOylation of GTF2IRD1 Regulates Protein Partner Interactions and Ubiquitin-Mediated Degradation

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Neuropsychological intervention in attention and visuospatial skills in two patients with Williams syndrome with different types of genetic deletion

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A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region

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Deletion of 7q11.23 Genes and Williams Syndrome

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Ocular features in Williams-Beuren syndrome: a review of the literature

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Disparities in visuo-spatial constructive abilities in Williams syndrome patients with typical deletion on chromosome 7q11.23

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Rare genomic rearrangement in a boy with Williams–Beuren syndrome associated to XYY syndrome and intriguing behavior

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Cognitive profile in William syndrome: a case study

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Lack of Williams syndrome-associated genes alters quantity discrimination in zebrafish

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HOW EXPERIENCE INTERACTS WITH BIOLOGICAL DEVELOPMENT

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High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype

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Gtf2i and Gtf2ird1 mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical regionPreprint

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Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

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Prenatal diagnosis, ultrasound findings and pregnancy outcome of 7q11.23 deletion and duplication syndromes: what are the fetal features?

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Biological determinants of the origin and development of the opposite psychological and behavioral traits associated with autism spectrum disorders and Williams syndrome

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Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren

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We Are Social – Therefore We Are: The Interplay of Mind, Culture, and Genetics in Williams Syndrome

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Is it Williams syndrome?GTF2IRD1implicated in visual–spatial construction andGTF2Iin sociability revealed by high resolution arrays

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Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients

Broadbent, H. J., Farran, E. K., Chin, E., Metcalfe, K., Tassabehji, M., Turnpenny, P. D., Sansbury, F. H., Meaburn, E. L., & Karmiloff‐Smith, A. (2014) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-6-18 · Cited by 44 · see citing works

RESEARCH ARTICLE Is It Williams Syndrome? GTF2IRD1 Implicated in Visual–Spatial Construction and GTF2I in Sociability Revealed by High Resolution Arrays

(2008)

Is it Williams Syndrome? GTF2I Implicated in Sociability and GTF2IRD1 in Visual-Spatial Construction Revealed by High Resolution Arrays

Korenberg, J. R. (2009) · Frontiers in Human Neuroscience · doi:10.3389/conf.neuro.09.2009.07.046

Cognitive, Behavioral, and Adaptive Profiles in Williams Syndrome With and Without Loss of GTF2IRD2

Serrano‐Juárez, C. A., Venegas-Vega, C. A., Yáñez-Téllez, M. G., Rodríguez-Camacho, M. A., Silva‐Pereyra, J., Salgado‐Ceballos, H., & Prieto‐Corona, B. (2018) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617718000711 · Cited by 14 · see citing works