Abstract

The overall objective of this work is to identify specific genes on chromosome 15 causing the phenotypic features of Prader-Willi syndrome (PWS) through the detection of differences in clinical manifestations, including physical, psychological, behavioral, and speech differences, between affected individuals with deletion 15q-13q, uniparental disomy 15 and imprinting mutations. We propose clinical and genetic studies on 50 patients with deletion, 50 with uniparental disomy (UPD), and at least 10 with imprinting mutations. Genetic studies will determine the etiology and delineate the extent of the deletions, and will include cytogenetics, FISH with several probes, numerous microsatellite markers, and methylation analysis. Extensive, standardized clinical studies will include dysmorphologic, endocrine, and nutritional evaluations, neuropsychological and achievement assessments, behavioral evaluation, and detailed language assessments by skilled individuals experienced with PWS.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR000080-38
Application #
6420455
Study Section
National Center for Research Resources Initial Review Group (RIRG)
Project Start
1978-12-01
Project End
2003-11-30
Budget Start
Budget End
Support Year
38
Fiscal Year
2000
Total Cost
Indirect Cost

  Institution

Name
Case Western Reserve University
Department
Type
DUNS #
077758407
City
Cleveland
State
OH
Country
United States
Zip Code
44106

  Publications

Randis, Tara M; Rice, Madeline Murguia; Myatt, Leslie et al. (2018) Incidence of early-onset sepsis in infants born to women with clinical chorioamnionitis. J Perinat Med 46:926-933
Clark, Erin A S; Weiner, Steven J; Rouse, Dwight J et al. (2018) Genetic Variation, Magnesium Sulfate Exposure, and Adverse Neurodevelopmental Outcomes Following Preterm Birth. Am J Perinatol 35:1012-1022
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
Saade, G R; Thom, E A; Grobman, W A et al. (2018) Cervical funneling or intra-amniotic debris and preterm birth in nulliparous women with midtrimester cervical length less than 30 mm. Ultrasound Obstet Gynecol 52:757-762
Inker, Lesley A; Grams, Morgan E; Levey, Andrew S et al. (2018) Relationship of Estimated GFR and Albuminuria to Concurrent Laboratory Abnormalities: An Individual Participant Data Meta-analysis in a Global Consortium. Am J Kidney Dis :
Juraschek, Stephen P; Miller 3rd, Edgar R; Appel, Lawrence J (2018) Orthostatic Hypotension and Symptoms in the AASK Trial. Am J Hypertens 31:665-671
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
Osman, Ahmed Fageer; Thomas, Biju; Singh, Nakul et al. (2017) Impact of Infant-Polysomnography Studies on Discharge Management and Outcomes: A 5 Year Experience from a Tertiary Care Unit. J Neonatal Biol 6:
Tita, Alan T N; Lai, Yinglei; Landon, Mark B et al. (2017) Predictive Characteristics of Elevated 1-Hour Glucose Challenge Test Results for Gestational Diabetes. Am J Perinatol 34:1464-1469
Grams, Morgan E; Yang, Wei; Rebholz, Casey M et al. (2017) Risks of Adverse Events in Advanced CKD: The Chronic Renal Insufficiency Cohort (CRIC) Study. Am J Kidney Dis 70:337-346

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