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A Geometric Framework for Evaluating Rare Variant Tests of Association
(Wiley Periodicals, Inc., 2013-05)
The wave of next‐generation sequencing data has arrived. However, many questions still remain about how to best analyze sequence data, particularly the contribution of rare genetic variants to human disease. Numerous ...
A radiation hybrid map of the proximal short arm of the human X chromosome spanning incontinentia pigmenti 1 (IP1) translocation breakpoints
(Elsevier, 1992-11)
Radiation hybrid mapping was used in combination with physical mapping techniques to order and estimate distances between 14 loci in the proximal region of the short arm of the human X chromosome. A panel of radiation ...
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor)
(Springer-Verlag, 1988-05)
HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in two brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was ...
Substrate interaction defects in histidylâ tRNA synthetase linked to dominant axonal peripheral neuropathy
(University of WashingtonWiley Periodicals, Inc., 2018-03)
Histidylâ tRNA synthetase (HARS) ligates histidine to cognate tRNA molecules, which is required for protein translation. Mutations in HARS cause the dominant axonal peripheral neuropathy Charcotâ Marieâ Tooth disease ...
Oxygen uptake in green iguana (Iguana iguana) injected with bacteria
(Elsevier, 1979-04)
1. 1.|Green iguanas (I. iguana) were maintained at a constant body temperature of 35.5[deg]C and injected with either saline or a dose of bacteria which had been previously shown to induce a fever by 3 h post-injection.2. ...
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 ...
Duplication 3p21→3pter and cyclopia
(Wiley Subscription Services, Inc., A Wiley Company, 1987-05)
We report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cydopia. It is possible that ...
Using sex-averaged genetic maps in multipoint linkage analysis when identity-by-descent status is incompletely known
(Wiley Subscription Services, Inc., A Wiley Company, 2006-07)
The ratio of male and female genetic map distances varies dramatically across the human genome. Despite these sex differences in genetic map distances, most multipoint linkage analyses use sex-averaged genetic maps. We ...