Abstract

Specific Aims of this protocol are to 1)test the hypothesis that BBS carriers have a characteristic retinal phenotype by ERG; 2)determine the usefulness of ERG as a diagnostic test for distinguishing carriers and non-carriers in at-risk BBS families by calculating positive and negative predictive values, sensitivity, and specificity; 3) determine whether the ERG abnormalities of BBS carriers are associated with, or predictors of age-dependent visual problems; and 4) use the ERG's and genotypes of unaffected family members to identify genetic recombinants that can be used to narrow the critical region of the BBS disease gene in Boston area Puerto Rican families.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
3M01RR002172-16
Application #
6281416
Study Section
Project Start
1997-12-01
Project End
1998-11-30
Budget Start
1997-10-01
Budget End
1998-09-30
Support Year
16
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
Children's Hospital Boston
Department
Type
DUNS #
076593722
City
Boston
State
MA
Country
United States
Zip Code
02115

  Publications

Cassidy, Adam R; Bernstein, Jane Holmes; Bellinger, David C et al. (2018) Visual-spatial processing style is associated with psychopathology in adolescents with critical congenital heart disease. Clin Neuropsychol :1-19
Bean Jaworski, Jessica L; White, Matthew T; DeMaso, David R et al. (2018) Visuospatial processing in adolescents with critical congenital heart disease: Organization, integration, and implications for academic achievement. Child Neuropsychol 24:451-468
Hron, Bridget M; Ebbeling, Cara B; Feldman, Henry A et al. (2017) Hepatic, adipocyte, enteric and pancreatic hormones: response to dietary macronutrient composition and relationship with metabolism. Nutr Metab (Lond) 14:44
Rollins, Caitlin K; Asaro, Lisa A; Akhondi-Asl, Alireza et al. (2017) White Matter Volume Predicts Language Development in Congenital Heart Disease. J Pediatr 181:42-48.e2
Sakai Bizmark, Rie; Chang, Ruey-Kang R; Tsugawa, Yusuke et al. (2017) Impact of AHA's 2007 guideline change on incidence of infective endocarditis in infants and children. Am Heart J 189:110-119
Selamet Tierney, Elif Seda; Hollenbeck-Pringle, Danielle; Lee, Caroline K et al. (2017) Reproducibility of Left Ventricular Dimension Versus Area Versus Volume Measurements in Pediatric Patients With Dilated Cardiomyopathy. Circ Cardiovasc Imaging 10:
Cousminer, Diana L; Widén, Elisabeth; Palmert, Mark R (2016) The genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity. Curr Opin Endocrinol Diabetes Obes 23:57-65
Keerthy, Divya; Youk, Ada; Srinath, Arvind I et al. (2016) Effect of Psychotherapy on Health Care Utilization in Children With Inflammatory Bowel Disease and Depression. J Pediatr Gastroenterol Nutr 63:658-664
Cassidy, Adam R; White, Matthew T; DeMaso, David R et al. (2016) Processing speed, executive function, and academic achievement in children with dextro-transposition of the great arteries: Testing a longitudinal developmental cascade model. Neuropsychology 30:874-885
Faden, Maheer; Holm, Mari; Allred, Elizabeth et al. (2016) Antenatal glucocorticoids and neonatal inflammation-associated proteins. Cytokine 88:199-208

Showing the most recent 10 out of 463 publications