Now showing items 1-10 of 122
7 th HUPO World Congress of Proteomics: Launching the Second Phase of the HUPO Plasma Proteome Project (PPP-2) 16–20 August 2008, Amsterdam, The Netherlands
(WILEY-VCH Verlag, 2009-01)
The HUPO Plasma Proteome Project new phase, PPP-2, held its initial workshop on 17 August, 2008, at the 7 th World Congress of Proteomics in Amsterdam. Technology platforms, data repositories, informatics, and engagement ...
Tests for gene-environment interaction from case-control data: a novel study of type I error, power and designs This article is a US government work, and, as such, is in the public domain in the United States of America.
(Wiley Subscription Services, Inc., A Wiley Company, 2008-11)
To evaluate the risk of a disease associated with the joint effects of genetic susceptibility and environmental exposures, epidemiologic researchers often test for non-multiplicative gene-environment effects from case-control ...
Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion
(Wiley Subscription Services, Inc., A Wiley Company, 2003-01-30)
Complex congenital heart defects (CHD) are associated with a variety of single gene abnormalities and chromosomal rearrangements. Of the various forms of CHD, aortic arch interruption, a conotruncal heart defect, is ...
STATISTICAL TESTS FOR TAXONOMIC DISTINCTIVENESS FROM OBSERVATIONS OF MONOPHYLY
(Blackwell Publishing Inc, 2007-02)
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 ...
Effects of Sex Steroid Receptor Specificity in the Regulation of Skeletal Metabolism
(Springer-Verlag, 2004-07)
The interaction between estrogens and androgens, with their protective effects in bone, and parathyroid hormone (PTH), a calcitropic peptide hormone, is complex but may be better understood with murine models. The purpose ...
Risk perception and concern among brothers of men with prostate carcinoma
(Wiley Subscription Services, Inc., A Wiley Company, 2004-04-01)
BACKGROUND It is important for clinicians, researchers, and others who shape public health policy to understand the demographic correlates and psychologic factors that drive health behaviors, such as screening for early ...
Nestin-Cre mediated deletion of Pitx2 in the mouse This article is a US Government work and, as such, is in the public domain in the United States of America.
(Wiley Subscription Services, Inc., A Wiley Company, 2006-07)
Nestin-Cre mice are widely used to generate gene deletions in the developing brain. Surprisingly, few Nestin-Cre lines have been characterized for their temporal and brain region-specific recombination. In addition, some ...
DNA-Sequence Patenting: National Society of Genetic Counselors (NSGC) Position Paper
(Kluwer Academic Publishers-Plenum Publishers; National Society of Genetic Counselors, Inc. ; Springer Science+Business Media, 2002-08)
In November 2000, the Genetic Services Committee of the National Society of Genetic Counselors (NSGC) convened a working group to draft a position paper on patenting of DNA-sequences. The mandate of the group was to produce ...