Now showing items 1-10 of 125
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 ...
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 ...
DNA polymorphism in the 5′ flanking region of the human carbonic anhydrase II gene on chromosome 8
(Springer-Verlag, 1985-04)
A restriction-fragment-length polymorphism (RFLP) is described which is associated with the human carbonic anhydrase II gene ( CA2 ) that codes for one of the three genetically distinct carbonic anhydrase isozymes, CA I, ...
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 ...
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 ...
Understanding the accuracy of statistical haplotype inference with sequence data of known phase
(Wiley Subscription Services, Inc., A Wiley Company, 2007-11)
Statistical methods for haplotype inference from multi-site genotypes of unrelated individuals have important application in association studies and population genetics. Understanding the factors that affect the accuracy ...
Activation of mammalian skeletal-muscle carbonic anhydrase III by arginine modification
(Kluwer Academic Publishers; The Biochemical Society ; Springer Science+Business Media, 1984-07)
Purified carbonic anhydrase isozymes I, II, and III (CA I, CA II, CA III) from various sources were treated with 2,3-butanedione and their bicarbonate dehydration reactions followed. The specific activities of human and ...
Evaluation of methods for the estimation of mutation rates in cultured mammalian cell populations
(Elsevier, 1987-04)
A systematic comparison of 5 different statistical methods for the estimation of mutation rate ([mu]) in cultured Chinese hamster V79 cells is presented. Fluctuation tests were performed with several large batches of ...