Abstract

Hypophosphatemic rickets (HYP) is the most common inherited form of rickets in the United States and the most common inherited form of hypophosphatemia. Identification and characterization of specific genetic defects in PEX, the recently identified gene for x-linked (HYP), will be the first goal of this study. The second goal is to identify genes other than PEX that may lead to the HYP phenotype in patients with no mutations in PEX. Since this is a study looking at genetic analysis of a rare disease, there is no final number of subjects projected.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
2M01RR006022-10
Application #
6122622
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
10
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Yale University
Department
Type
DUNS #
082359691
City
New Haven
State
CT
Country
United States
Zip Code
06520

  Publications

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
Jilling, Tamas; Ambalavanan, Namasivayam; Cotten, C Michael et al. (2018) Surgical necrotizing enterocolitis in extremely premature neonates is associated with genetic variations in an intergenic region of chromosome 8. Pediatr Res 83:943-953
Srinivasan, Lakshmi; Page, Grier; Kirpalani, Haresh et al. (2017) Genome-wide association study of sepsis in extremely premature infants. Arch Dis Child Fetal Neonatal Ed 102:F439-F445
Di Fiore, Juliann M; Martin, Richard J; Li, Hong et al. (2017) Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort. J Pediatr 186:49-56.e1
Criado, Kristen K; Sharp, William G; McCracken, Courtney E et al. (2017) Overweight and obese status in children with autism spectrum disorder and disruptive behavior. Autism :1362361316683888
Archer, Stephanie Wilson; Carlo, Waldemar A; Truog, William E et al. (2016) Improving publication rates in a collaborative clinical trials research network. Semin Perinatol 40:410-417
D'Angio, Carl T; Ambalavanan, Namasivayam; Carlo, Waldemar A et al. (2016) Blood Cytokine Profiles Associated with Distinct Patterns of Bronchopulmonary Dysplasia among Extremely Low Birth Weight Infants. J Pediatr 174:45-51.e5
Colaizy, Tarah T; Bartick, Melissa C; Jegier, Briana J et al. (2016) Impact of Optimized Breastfeeding on the Costs of Necrotizing Enterocolitis in Extremely Low Birthweight Infants. J Pediatr 175:100-105.e2
Salas, Ariel A; Carlo, Waldemar A; Ambalavanan, Namasivayam et al. (2016) Gestational age and birthweight for risk assessment of neurodevelopmental impairment or death in extremely preterm infants. Arch Dis Child Fetal Neonatal Ed :
Weissman, Scott J; Hansen, Nellie I; Zaterka-Baxter, Kristen et al. (2016) Emergence of Antibiotic Resistance-Associated Clones Among Escherichia coli Recovered From Newborns With Early-Onset Sepsis and Meningitis in the United States, 2008-2009. J Pediatric Infect Dis Soc 5:269-76

Showing the most recent 10 out of 312 publications