Penetrance
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Subject Areas on Research
- A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis.
- A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
- A mechanism for gene-environment interaction in the etiology of congenital scoliosis.
- A second leaky splice-site mutation in the spastin gene.
- An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
- Characterization of BRCA1 and BRCA2 mutations in a large United States sample.
- Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis.
- Drosophila E2f2 promotes the conversion from genomic DNA replication to gene amplification in ovarian follicle cells.
- Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
- Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33.
- Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.
- Genetic linkage of hyper-IgE syndrome to chromosome 4.
- Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
- Haptoglobin modifies the hemochromatosis phenotype in mice.
- Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.
- Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
- Ligament versus bone cell identity in the zebrafish hyoid skeleton is regulated by mef2ca.
- Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
- Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
- Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
- Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children.
- Rare coding variants and X-linked loci associated with age at menarche.
- Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.
- Septin ring assembly involves cycles of GTP loading and hydrolysis by Cdc42p.
- Targeted disruption of Smad3 reveals an essential role in transforming growth factor beta-mediated signal transduction.
- The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.
- The tripartite associations between bacteriophage, Wolbachia, and arthropods.
- X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design.
- Young smokers' interpretations of the estimated lung cancer risk associated with a common genetic variant of low penetrance.