Abstract

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This protocol is designed to continue our research to understand the pathophysiology of congenital disorders of eye and lid movement by elucidating the genetic causes of strabismus and ptosis. The objectives of our research are to 1) identify genetic loci and gene mutations responsible for forms of human congenital strabismus and ptosis, 2) correlate thes genetic loci and specific mutations with clinical phenotypes, 3) correlate these mutations with specific anatomic changes in the brainstem and/or extraocular muscle of affected participants, 4) determine the role of each mutated gene in normal and abnormal development.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR002172-24
Application #
7380761
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
2006-04-01
Project End
2007-03-31
Budget Start
2006-04-01
Budget End
2007-03-31
Support Year
24
Fiscal Year
2006
Total Cost
$20,676
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
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:
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
Kim, So Hyun; Joseph, Robert M; Frazier, Jean A et al. (2016) Predictive Validity of the Modified Checklist for Autism in Toddlers (M-CHAT) Born Very Preterm. J Pediatr 178:101-107.e2
Leviton, Alan; Allred, Elizabeth N; Fichorova, Raina N et al. (2016) Antecedents of inflammation biomarkers in preterm newborns on days 21 and 28. Acta Paediatr 105:274-80
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

Showing the most recent 10 out of 463 publications