Beuren syndrome
A Case Study with Williams-Beuren Syndrome
... This case study examines the performance of a Greek child with Williams-Beuren syndrome and a group of ten typically developing children whose chronological age is equivalent to the mental age of the WS ...
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Enhanced prefrontal serotonin 5-HT1A currents in a mouse model of Williams-Beuren syndrome with low innate anxiety
... Williams-Beuren syndrome (WBS) is a neuro- developmental disorder caused by the hemizygous deletion of 28 genes on chromosome 7, including the general transcription factor ...
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Adolescent adaptive behavior profiles in Williams–Beuren syndrome, Down syndrome, and autism spectrum disorder
... Williams–Beuren syndrome is a multisystem genomic disorder, characterized by dysmorphic facial features, short stature, connective tissue abnormalities, and infantile ...This syndrome has complex ...
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Clinical and Molecular Cytogenetic Study of 38 Williams Beuren Syndrome Tunisian Patients
... Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical ...
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Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome
... Background: Deletion of the Williams-Beuren syndrome (WBS) critical region (WBSCR), at 7q11.23, causes a developmental disorder commonly characterized by hypersociability and excessive talkativeness and ...
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Copy number variation in Williams Beuren syndrome: suitable diagnostic strategy for developing countries
... Background: Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness ...
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Minoxidil versus placebo in the treatment of arterial wall hypertrophy in children with Williams Beuren Syndrome: a randomized controlled trial
... Williams-Beuren syndrome (WBS) is a sporadic con- genital disorder, first described in 1961 by J.C.P. Wil- liams, a New Zealander cardiologist [1]. The prevalence of WBS is estimated at 1.34 in 10,000 ...
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Williams-Beuren Syndrome Hypercalcemia: Is TRPC3 a Novel Mediator in Calcium Homeostasis?
... Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder associated with hypercalcemia of unknown ...This syndrome results from the deletion of contiguous genes on chromosome 7, includ- ing ...
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Visual phenotype in Williams Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders
... Our study addresses structure-function correlations that unravel a hitherto unsuspected neural retinal phenotype in Williams- Beuren syndrome that explains patterns of visual deficits that are independent ...
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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
... Williams Beuren syndrome (WBS) is a multiple malformations/intellectual disability (ID) syndrome caused by 7q11.23 microdeletion and clinically characterized by a typical neurocognitive profile ...
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No significantly increased frequency of the inversion polymorphism at the WBS-critical region 7q11.23 in German parents of patients with Williams-Beuren syndrome as compared to a population control
... Based on the results of Osborne et al. [8] and Bayés et al. [9], it is generally supposed that the prevalence of the paracentric inversion polymorphism at 7q11.23 is much higher in the population of WBS parents (~30%) ...
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Mechanisms and treatment of cardiovascular disease in Williams Beuren syndrome
... Williams-Beuren syndrome (WBS) is a microdeletion disorder caused by heterozygous loss of approximately 1.5-Mb pairs of DNA from chromosome 7. Patients with WBS have a characteristic constellation of ...
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Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literature
... Unilateral Peters’ anomaly and cleft palate were diagnosed in a patient with classical sporadic Williams-Beuren syndrome. Even if a common cause of these conditions remains an intriguing speculation, a ...
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High prevalence of cardiovascular risk factors in children and adolescents with Williams-Beuren syndrome
... ABP: 24-h ambulatory blood pressure; BMI: Body mass index; BP: Blood pressure; CV: Cardiovascular; IMT: Intima-media thickness; FMD: Flow- mediated dilatation; HOMA-IR: Homeostasis model[r] ...
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Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome
... Reduced levels of Brain-derived neurotrophic factor (BDNF) were present in the CA1-CA3 hippocampal region of CD mice, which could account for LTP deficits in these mice.. Taken together,[r] ...
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Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome
... Previously, skin fibroblasts from a WBS patient were suc- cessfully reprogrammed to iPSCs and characterized for pluripotency and normal karyotype. Furthermore, these iPSC lines were differentiated into smooth muscle ...
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Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
... Elastin gene (ELN) mutations have been associated with various skin, cardiovascular and pulmonary phenotypes. Microdeletions of the region on 7q11, encompassing the ELN gene, result in Williams-Beuren ...
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Bilateral Burkitt Lymphoma of the Ovaries: A Report of a Case in a Child with Williams Syndrome
... Williams Syndrome (also known as Williams-Beuren Syndrome) is a rare genetic disorder with an incidence of one per 7,500–20,000 births; most cases occurring ...Williams Syndrome are growth and ...
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Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams’ syndrome patients in Saudi Arabia
... Williams’s syndrome (WS) or Williams-Beuren syndrome (WBS) (OMIM 194050) is a contiguous gene syndrome caused by hemizygous deletion of chromosome ...
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Comorbidity of the Metabolic Syndrome: Hyperuricemia, Gallstone Disease, Hormonal Disorders
... reduces levels of endothelial nitric oxide (NO), a key mediator of insulin action. NO increases blood flow to skeletal muscle and enhances glucose uptake, thereby its deficiency causes insulin resistance and other ...
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