Now showing items 21-30 of 474
Predictors of postoperative outcome after general surgical procedures in patients with congenital heart disease
(Elsevier, 1994-07)
This study was undertaken to evaluate factors predictive of postoperative outcome after general surgical (GS) procedures in patients with congenital heart disease (CHD). All patients with a diagnosis of CHD who underwent ...
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease
(Springer-Verlag; IPNA, 2003-06)
Recessive mutations cause cystic kidney disease and a variable degree of biliary liver fibrosis in cpk mice. Recently, the responsible murine gene ( Cys1 ) was identified and expression in renal cilia demonstrated. Here ...
The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia How to cite this article: Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P. 2008. The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia. Am J Med Genet Part A.
(Wiley Subscription Services, Inc., A Wiley Company, 2008-11-15)
Expanded newborn screening detects patients with modest elevations in citrulline; however it is currently unclear how to treat these patients and how to counsel their parents. In order to begin to address these issues, we ...
Post-translational processing of gastrin in neoplastic human colonic tissues
(Elsevier, 1992-12-15)
Gastrin has been postulated to stimulate proliferation in colorectal neoplasms. Although gastrin mRNA has been demonstrated to be present in colon cancer cell lines, the intact peptide had not been recovered from human ...
A National Survey of Physician Practices Regarding Influenza Vaccine
(Blackwell Science Inc, 2002-09)
To characterize U.S. physicians' practices regarding influenza vaccine, particularly regarding the capacity to identify high-risk patients, the use of reminder systems, and the typical period of administration of vaccine. ...
Effects of serum and insulin-like growth factors on human neuroblastoma cell growth
(Elsevier, 1993-10-20)
Insulin-like growth factors (IGF-I and IGF-II) are mitogenic polypeptides expressed in both developing and adult tissues. To examine the effects of IGFs on neuronal growth, we used SH-SY5Y neuroblastoma cells as an in vitro ...
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation
(Blackwell Publishing Ltd, 2009-11)
Institutional variation in ordering complete blood counts for children hospitalized with bronchiolitis This work was presented at the Pediatric Academic Society Meeting, May 2005.
(Wiley Subscription Services, Inc., A Wiley Company, 2007-03)
BACKGROUND In the evaluation of infants with bronchiolitis there is little evidence to support the use of diagnostic testing, particularly complete blood counts (CBCs). However, the extent to which CBCs are ordered in the ...
NF1-related locus on chromosome 15
(Elsevier, 1992-08)
A neurofibromatosis type I (NF1)-related locus has been identified on chromosome 15. It contains a partial copy of the NF1 GAP-related domain, which is known to interact with the ras protooncogenes. However, the chromosome ...