Penetrance

• 

  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 rare penetrant mutation in CFH confers high risk of age-related macular degeneration. 
  • 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. 
  • Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease. 
  • Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 
  • Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 
  • 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. 
  • Genetic modifiers and oligogenic inheritance. 
  • 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 ciliopathies: a transitional model into systems biology of human genetic disease. 
  • 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.