Abstract

The skeletal dysplasias are a heterogeneous group of disorders which result in disproportionate short stature and/or skeletal deformities. This study involves a multidisciplinary investigation of the clinical, genetic, morphologic, biochemical and molecular characteristics of the skeletal dysplasias. In the past year, these studies have resulted in the identification of the genes responsible for several dysplasias, including pseudoachondroplasia and achondrogenesis. In the future the GCRC will continue to assist in specimen collection for these molecular studies.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000425-27
Application #
5220441
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
27
Fiscal Year
1996
Total Cost
Indirect Cost

  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
Nakanishi, Rine; Baskaran, Lohendran; Gransar, Heidi et al. (2017) Relationship of Hypertension to Coronary Atherosclerosis and Cardiac Events in Patients With Coronary Computed Tomographic Angiography. Hypertension 70:293-299

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