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Subject Areas on Research
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A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis.
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A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
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A mechanism for gene-environment interaction in the etiology of congenital scoliosis.
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A second leaky splice-site mutation in the spastin gene.
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An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.
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Characterization of BRCA1 and BRCA2 mutations in a large United States sample.
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Common non-synonymous polymorphisms in the BRCA1 Associated RING Domain (BARD1) gene are associated with breast cancer susceptibility: a case-control analysis.
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Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.
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Disease Expression and Familial Transmission of Fuchs Endothelial Corneal Dystrophy With and Without CTG18.1 Expansion.
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Drosophila E2f2 promotes the conversion from genomic DNA replication to gene amplification in ovarian follicle cells.
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Elevated risk of prostate cancer among men with Lynch syndrome.
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Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
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Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33.
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Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants.
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Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.
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Genetic linkage of hyper-IgE syndrome to chromosome 4.
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Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations.
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Haptoglobin modifies the hemochromatosis phenotype in mice.
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Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.
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Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
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Investigation of NRXN1 deletions: clinical and molecular characterization.
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Ligament versus bone cell identity in the zebrafish hyoid skeleton is regulated by mef2ca.
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Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene.
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NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
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Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
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Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children.
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Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.
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SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.
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Septin ring assembly involves cycles of GTP loading and hydrolysis by Cdc42p.
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Targeted disruption of Smad3 reveals an essential role in transforming growth factor beta-mediated signal transduction.
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The molecular basis of disease variability among cystic fibrosis patients carrying the 3849+10 kb C-->T mutation.
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The tripartite associations between bacteriophage, Wolbachia, and arthropods.
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X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design.
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Young smokers' interpretations of the estimated lung cancer risk associated with a common genetic variant of low penetrance.