Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome.

No abstract is available for this paper.

• Publication year

  2008

• Venue

  Journal of Clinical Investigation

• Publication date

  2008-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1172/JCI35309PMID 18452001PMCID PMC2358987
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

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• Copper deficiency

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• Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region

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• Therapeutic gene regulation: targeting transcription.

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• Left ventricle myocardial mechanics and textural properties in patients with Williams syndrome

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• Outcome of pulmonary and aortic stenosis in Williams‐Beuren syndrome in an Asian cohort

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• Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.

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• Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

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• Severe Coronary Artery Disease in the Absence of Supravalvular Stenosis in a Patient with Williams Syndrome

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• Clinical Manifestations and Molecular Investigation of 50 Patients with Williams Syndrome in the Greek Population

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• Severe expressive-language delay related to duplication of the Williams-Beuren locus.

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• Risk of sudden death in the Williams–Beuren syndrome

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• Multisystem study of 20 older adults with Williams syndrome

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• Williams syndrome associated with complete atrioventricular septal defect

  2003cited by this paper
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• Mutational mechanisms of Williams-Beuren syndrome deletions.

  2003cited by this paper
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• Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency.

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• Positron Emission Tomography Myocardial Perfusion Imaging in Children with Suspected Coronary Abnormalities

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• Signaling Pathways Transduced through the Elastin Receptor Facilitate Proliferation of Arterial Smooth Muscle Cells*

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• Surgical repair of congenital supravalvular aortic stenosis in children.

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• Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa.

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• Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47 degrees chronic granulomatous disease carrier detection.

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• Cardiovascular manifestations in 75 patients with Williams syndrome

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• Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome.

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• Prevalence Estimation of Williams Syndrome

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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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• A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome

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• The elastin-laminin receptor functions as a mechanotransducer in vascular smooth muscle.

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• Differences by sex in cardiovascular disease in Williams syndrome.

  2001cited by this paper
• Exercise Testing and 24-Hour Ambulatory Blood Pressure Monitoring in Children with Williams Syndrome

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• Anomalies of the abdominal aorta in Williams-Beuren syndrome – another cause of arterial hypertension

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• Balloon Dilation Angioplasty of Peripheral Pulmonary Stenosis Associated With Williams Syndrome

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• Surgery for bilateral outflow tract obstruction in elastin arteriopathy.

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• Williams syndrome and related disorders.

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• Mechanical properties of the common carotid artery in Williams syndrome

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• Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay

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• The Williams syndrome cognitive profile.

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• The middle aortic syndrome: an important feature of Williams' Syndrome

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• [Arterial hypertension and blood pressure profile in patients with Williams-Beuren syndrome].

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