Abstract

Williams syndrome is a genetic disorder producing mental retardation, characteristic dysmorphology, and cardiac defects. In most cases it results from a hemizygous deletion around the elastin gene on chromosome 7q11.2. The present study is designed to examine the cognitive sequellae of Williams syndrome and to determine the genetic basis for the cognitive defects. Genotype-phenotype correlations are being performed by collecting detailed clinical information on patients studied at the Salk Institute for Biological Studies and obtaining blood from them for molecular studies. Lymphoblastoid cell lines are being establishment by the GCRC at Cedars-Sinai, ensuring that adequate quantities of DNA will be available for the detailed molecular evaluations of 7q11.2. Patient accrual will continue in the coming year.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000425-30
Application #
6117209
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
30
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
La Biomed Research Institute/ Harbor UCLA Medical Center
Department
Type
DUNS #
City
Torrance
State
CA
Country
United States
Zip Code
90502

  Publications

Mehta, Puja K; Hermel, Melody; Nelson, Michael D et al. (2018) Mental stress peripheral vascular reactivity is elevated in women with coronary vascular dysfunction: Results from the NHLBI-sponsored Cardiac Autonomic Nervous System (CANS) study. Int J Cardiol 251:8-13
Kim, Se-Min; Cui, Jinrui; Rhyu, Jane et al. (2018) Association between site-specific bone mineral density and glucose homeostasis and anthropometric traits in healthy men and women. Clin Endocrinol (Oxf) 88:848-855
Sharma, Shilpa; Mehta, Puja K; Arsanjani, Reza et al. (2018) False-positive stress testing: Does endothelial vascular dysfunction contribute to ST-segment depression in women? A pilot study. Clin Cardiol 41:1044-1048
Shufelt, Chrisandra; Manson, Joann (2018) Managing Menopause by Combining Evidence With Clinical Judgment. Clin Obstet Gynecol 61:470-479
Cherukuri, Lavanya; Smith, Michael S; Tayek, John A (2018) The durability of oral diabetic medications: Time to A1c baseline and a review of common oral medications used by the primary care provider. Endocrinol Diabetes Metab J 2:
Nicholls, Stephen J; Tuzcu, E Murat; Wolski, Kathy et al. (2018) Extent of coronary atherosclerosis and arterial remodelling in women: the NHLBI-sponsored Women's Ischemia Syndrome Evaluation. Cardiovasc Diagn Ther 8:405-413
Wei, Janet; Bakir, May; Darounian, Navid et al. (2018) Myocardial Scar Is Prevalent and Associated With Subclinical Myocardial Dysfunction in Women With Suspected Ischemia But No Obstructive Coronary Artery Disease: From the Women's Ischemia Syndrome Evaluation-Coronary Vascular Dysfunction Study. Circulation 137:874-876
Elboudwarej, Omeed; Wei, Janet; Darouian, Navid et al. (2018) Maladaptive left ventricular remodeling in women: An analysis from the Women's Ischemia Syndrome Evaluation-Coronary Vascular Dysfunction study. Int J Cardiol 268:230-235
Shufelt, Chrisandra; Bairey Merz, C Noel; Pettinger, Mary B et al. (2018) Estrogen-alone therapy and invasive breast cancer incidence by dose, formulation, and route of delivery: findings from the WHI observational study. Menopause 25:985-991
Ghanaat, Farhad; Tayek, John A (2017) Weight loss and diabetes are new risk factors for the development of invasive aspergillosis infection in non-immunocompromized humans. Clin Pract (Lond) 14:296-301

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