Now showing items 11-20 of 33
Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change
(John Wiley & Sons, Inc., 1999-11)
Juvenile retinoschisis is an X-linked recessive disease caused by mutations in the XLRS1 gene. We screened 31 new unrelated patients and families for XLRS1 mutations in addition to previously reported mutations for 60 of ...
Synergism of mutant frequencies in the mouse lymphoma cell mutagenicity assay by binary mixtures of methyl methanesulfonate and ethyl methanesulfonate
(Elsevier, 1988-10)
The effect of mixed mutagen exposures on the rate and type of induced mutants was studied in the L5178Y/TK+/- --> TK-/- mouse lymphoma cell mutagenicity assay. In this assay, exposure to ethyl methanesulfonate (EMS) ...
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns
(Springer-Verlag, 2005-11)
Mitochondria play an integral role in ATP production in cells and are involved in glucose metabolism and insulin secretion, suggesting that variants in the mitochondrial genome may contribute to diabetes susceptibility. ...
Alternative genetic models for the inheritance of the phenylthiocarbamide taste deficiency
(Wiley Subscription Services, Inc., A Wiley Company, 1989)
Pedigree segregation analysis was used to examine several one- and two-locus models of the inheritance of phenylthiocarbamide (PTC) taste deficiency that extend the traditional one-locus recessive model by the addition of ...
A Radiation Hybrid Map of the BRCA1 Region of Chromosome 17q12-q21
(Elsevier, 1993-09)
The chromosomal region 17q12-q21 contains a gene (BRCA1) conferring susceptibility to early-onset familial breast and ovarian cancer. An 8000-rad radiation-reduced hybrid (RH) panel was constructed to provide a resource ...
Multipoint Radiation Hybrid Mapping: Comparison of Methods, Sample Size Requirements, and Optimal Study Characteristics
(Elsevier, 1994-05-01)
There are several statistical methods available for analyzing radiation hybrid (RH) data, but little is known about the ordering accuracy we can expect under common study conditions. Using analytic methods and computer ...
Exploring the Public Understanding of Basic Genetic Concepts
(Kluwer Academic Publishers-Plenum Publishers; National Society of Genetic Counselors, Inc. ; Springer Science+Business Media, 2004-08)
It is predicted that the rapid acquisition of new genetic knowledge and related applications during the next decade will have significant implications for virtually all members of society. Currently, most people get exposed ...
Genome-wide linkage analysis of families with obsessive-compulsive disorder ascertained through pediatric probands
(Wiley Subscription Services, Inc., A Wiley Company, 2002-07-08)
The goal of this study was to identify chromosomal regions likely to contain susceptibility alleles for early-onset obsessive-compulsive disorder (OCD). A genome scan was done in 56 individuals from seven families ascertained ...
Multicolor FISH Mapping with Alu-PCR-Amplified YAC Clone DNA Determines the Order of Markers in the BRCA1 Region on Chromosome 17q12-q21
(Elsevier, 1993-09)
A gene designated BRCA1, implicated in the susceptibility to early-onset familial breast cancer, has recently been localized to chromosome 17q12-q21. To date, the order of DNA markers mapped within this region has been ...
Recombination fraction estimate of zero in the presence of apparent recombinants: Effects of incomplete penetrance and sporadic cases
(Wiley Subscription Services, Inc., A Wiley Company, 1995)
For a fully penetrant trait, apparent recombinants between the trait and marker loci result in an estimate of the recombination fraction θ > 0. Given allowance for reduced penetrance and/or sporadic cases, this no longer ...