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 …
unit. 20 The elastic lamellae allow an artery to respond to the increased hemodynamic …
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 …
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 …
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 …
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 …
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
Objective—Williams syndrome is characterized by obstructive aortopathy attributable to
heterozygous loss of ELN, the gene encoding elastin. Lesions are thought to result primarily …
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 …
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 …
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 …
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 …
the vascular pathology in Williams syndrome. Background. The cardiovascular pathology of …
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