Abstract

Brachmann-de Lange Syndrome (BDLS) consists of multiple congenital anomalies and mental retardation. The etiology is unknown. It is a clinical diagnosis and no useful laboratory test exists. Furthermore, there is a vexing clinical overlap with chromosome 3q duplication syndrome. New basic findings suggest that BDLS fibroblasts may have a measureable abnormality not previously noted in blood cells. This protocol intends to confirm this finding by analyzing blood cells and skin fibroblasts from twenty BDLS patients.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000334-33
Application #
6116993
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
33
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Oregon Health and Science University
Department
Type
DUNS #
009584210
City
Portland
State
OR
Country
United States
Zip Code
97239

  Publications

Brenowitz, Willa D; Keene, C Dirk; Hawes, Stephen E et al. (2017) Alzheimer's disease neuropathologic change, Lewy body disease, and vascular brain injury in clinic- and community-based samples. Neurobiol Aging 53:83-92
Brenowitz, Willa D; Hubbard, Rebecca A; Keene, C Dirk et al. (2017) Mixed neuropathologies and estimated rates of clinical progression in a large autopsy sample. Alzheimers Dement 13:654-662
Bergstrom, Colin P; Ruffell, Brian; Ho, Christine M T et al. (2017) Docetaxel and mitoxantrone before radical prostatectomy in men with high-risk prostate cancer: 10-year follow-up and immune correlates. Anticancer Drugs 28:120-126
Narayanan, Kumar; Uy-Evanado, Audrey; Teodorescu, Carmen et al. (2016) Mitral valve prolapse and sudden cardiac arrest in the community. Heart Rhythm 13:498-503
Abner, Erin L; Nelson, Peter T; Kryscio, Richard J et al. (2016) Diabetes is associated with cerebrovascular but not Alzheimer's disease neuropathology. Alzheimers Dement 12:882-9
Sylwester, Andrew; Nambiar, Kate Z; Caserta, Stefano et al. (2016) A new perspective of the structural complexity of HCMV-specific T-cell responses. Mech Ageing Dev 158:14-22
Elliot, Diane; Garg, Bharti; Kuehl, Kerry et al. (2015) Why Are Women Law Enforcement Officers More Burned-Out and What Might Help Them? Occup Med Health Aff 3:
Samuels, Mary H (2014) Psychiatric and cognitive manifestations of hypothyroidism. Curr Opin Endocrinol Diabetes Obes 21:377-83
Redig, Jennifer K; Fouad, Gameil T; Babcock, Darcie et al. (2014) Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects. AIMS Genet 1:1-19
Lee, David S H; Markwardt, Sheila; Goeres, Leah et al. (2014) Statins and physical activity in older men: the osteoporotic fractures in men study. JAMA Intern Med 174:1263-70

Showing the most recent 10 out of 336 publications