Abstract

The goal of this project is to identify and characterize genes causing birth defects of the limb. Although the etiology of most birth defects remains unknown, a substantial proportion of defects are caused by mutations in genes that are components of developmental programs. Consequently, characterization of the molecular basis of birth defects can reveal the genetic constituents of these developmental programs. To date, we have described the phenotypic spectrum of approximately fifteen different genetic disorders characterized by defects in limb patterning. We have mapped the chromosomal locations of genes causing five of these disorders and identified mutations in genes (TBX3, TBX5, Noggin, and p63) causing 4 of these syndromes.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000064-36
Application #
6406952
Study Section
General Clinical Research Centers Committee (CLR)
Project Start
1977-12-01
Project End
2001-02-28
Budget Start
Budget End
Support Year
36
Fiscal Year
2000
Total Cost
Indirect Cost

  Institution

Name
University of Utah
Department
Type
DUNS #
City
Salt Lake City
State
UT
Country
United States
Zip Code
84112

  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
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
Adams, Ted D; Davidson, Lance E; Litwin, Sheldon E et al. (2017) Weight and Metabolic Outcomes 12 Years after Gastric Bypass. N Engl J Med 377:1143-1155
Younge, Noelle; Goldstein, Ricki F; Bann, Carla M et al. (2017) Survival and Neurodevelopmental Outcomes among Periviable Infants. N Engl J Med 376:617-628
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
Phelps, Dale L; Ward, Robert M; Williams, Rick L et al. (2016) Safety and pharmacokinetics of multiple dose myo-inositol in preterm infants. Pediatr Res 80:209-17
Harper, Lorie M; Mele, Lisa; Landon, Mark B et al. (2016) Carpenter-Coustan Compared With National Diabetes Data Group Criteria for Diagnosing Gestational Diabetes. Obstet Gynecol 127:893-8
Bowles, Neil E; Jou, Chuanchau J; Arrington, Cammon B et al. (2015) Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus. Am J Med Genet A 167A:2975-84
Priester, Tiffany; Ault, Travis G; Davidson, Lance et al. (2015) Coronary calcium scores 6 years after bariatric surgery. Obes Surg 25:90-6
Adams, T D; Hammoud, A O; Davidson, L E et al. (2015) Maternal and neonatal outcomes for pregnancies before and after gastric bypass surgery. Int J Obes (Lond) 39:686-94

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