Cardiovascular disease in Williams syndrome

RT Collins - Circulation, 2013 - Am Heart Assoc
2126 Circulation May 28, 2013 alternates with a ring of smooth muscle, forming a lamellar
unit. 20 The elastic lamellae allow an artery to respond to the increased hemodynamic …

Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome

BR Pober, M Johnson, Z Urban - The Journal of clinical …, 2008 - Am Soc Clin Investig
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 …

Long-term outcomes of patients with cardiovascular abnormalities and Williams syndrome

RT Collins II, P Kaplan, GW Somes, JJ Rome - The American journal of …, 2010 - Elsevier
Williams syndrome (WS) is a congenital disorder affecting the vascular, connective tissue,
and central nervous systems of 1 in 8,000 live births. Previous reports have reported high …

Differences by sex in cardiovascular disease in Williams syndrome

LS Sadler, BR Pober, A Grandinetti, D Scheiber… - The Journal of …, 2001 - Elsevier
Objective: To analyze the incidence and severity of cardiovascular disease in patients with
Williams syndrome (WS) and to identify factors contributing to its variable expression …

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

AK Ewart, CA Morris, D Atkinson, W Jin, K Sternes… - Nature …, 1993 - nature.com
Williams syndrome (WS) is a developmental disorder affecting connective tissue and the
central nervous system. A common feature of WS, supravalvular aortic stenosis, is also a …

Deficient circumferential growth is the primary determinant of aortic obstruction attributable to partial elastin deficiency

Y Jiao, G Li, A Korneva, AW Caulk, L Qin… - … , and vascular biology, 2017 - Am Heart Assoc
Objective—Williams syndrome is characterized by obstructive aortopathy attributable to
heterozygous loss of ELN, the gene encoding elastin. Lesions are thought to result primarily …

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin

YQ Wu, VR Sutton, E Nickerson… - American journal of …, 1998 - Wiley Online Library
Williams syndrome (WS) is a neurodevelopmental disorder with a variable phenotype.
Molecular genetic studies have indicated that hemizygosity at the elastin locus (ELN) may …

Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1

BA Kozel, JR Danback, JL Waxler, RH Knutsen… - …, 2014 - Am Heart Assoc
Williams syndrome is caused by the deletion of 26 to 28 genes, including elastin, on human
chromosome 7. Elastin insufficiency leads to the cardiovascular hallmarks of this condition …

Introduction: williams syndrome

CA Morris - American Journal of Medical Genetics Part C …, 2010 - Wiley Online Library
In the nearly 50 years since the description of Williams syndrome by [Williams et al.(1961);
Circulation 24: 1311–1318], the focus of scientific inquiry has shifted from identification …

Generalized arteriopathy in Williams syndrome: an intravascular ultrasound study

AJJT Rein, TJ Preminger, SB Perry, JE Lock… - Journal of the American …, 1993 - Elsevier
Objectives. We used intraluminal ultrasound imaging to provide additional information about
the vascular pathology in Williams syndrome. Background. The cardiovascular pathology of …