Abstract

The purpose of the study is to genotype the fibrillin 15 gene in family members and determine whether the mutation segregates with ectopia lentis and/or retinal tear. Through a full Marfan clinical evaluation, we will determine whether isolated ectopia lentis and retinal tear pathology (as compared to the full Marfan syndrome) is associated with this specific mutation in fibrillin 15. Although there is no treatment arm to this research protocol, preventive and palliative therapy will benefit subjects found to have ocular, cardiac or skeletal pathology through clinical services.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000039-41
Application #
6418389
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
1974-10-01
Project End
2004-11-30
Budget Start
Budget End
Support Year
41
Fiscal Year
2001
Total Cost
Indirect Cost

  Institution

Name
Emory University
Department
Type
DUNS #
042250712
City
Atlanta
State
GA
Country
United States
Zip Code
30322

  Publications

Yu, Alan S L; Shen, Chengli; Landsittel, Douglas P et al. (2018) Baseline total kidney volume and the rate of kidney growth are associated with chronic kidney disease progression in Autosomal Dominant Polycystic Kidney Disease. Kidney Int 93:691-699
Stevens, Jennifer S; Reddy, Renuka; Kim, Ye Ji et al. (2018) Episodic memory after trauma exposure: Medial temporal lobe function is positively related to re-experiencing and inversely related to negative affect symptoms. Neuroimage Clin 17:650-658
Huang, Yunfeng; Hui, Qin; Walker, Douglas I et al. (2018) Untargeted metabolomics reveals multiple metabolites influencing smoking-related DNA methylation. Epigenomics 10:379-393
Nowak, Kristen L; You, Zhiying; Gitomer, Berenice et al. (2018) Overweight and Obesity Are Predictors of Progression in Early Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol 29:571-578
Lin, Cliff; Michopoulos, Vasiliki; Powers, Abigail et al. (2018) Affect, inflammation, and health in urban at-risk civilians. J Psychiatr Res 104:24-31
Hardy, Raven; Fani, Negar; Jovanovic, Tanja et al. (2018) Food addiction and substance addiction in women: Common clinical characteristics. Appetite 120:367-373
Askie, Lisa M; Darlow, Brian A; Finer, Neil et al. (2018) Association Between Oxygen Saturation Targeting and Death or Disability in Extremely Preterm Infants in the Neonatal Oxygenation Prospective Meta-analysis Collaboration. JAMA 319:2190-2201
Logue, Mark W; van Rooij, Sanne J H; Dennis, Emily L et al. (2018) Smaller Hippocampal Volume in Posttraumatic Stress Disorder: A Multisite ENIGMA-PGC Study: Subcortical Volumetry Results From Posttraumatic Stress Disorder Consortia. Biol Psychiatry 83:244-253
McKenzie, Katelyn A; El Ters, Mirelle; Torres, Vicente E et al. (2018) Relationship between caffeine intake and autosomal dominant polycystic kidney disease progression: a retrospective analysis using the CRISP cohort. BMC Nephrol 19:378
Dad, Taimur; Abebe, Kaleab Z; Bae, K Ty et al. (2018) Longitudinal Assessment of Left Ventricular Mass in Autosomal Dominant Polycystic Kidney Disease. Kidney Int Rep 3:619-624

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