Genetic Heterogeneity
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Subject Areas on Research
- A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.
- Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
- Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome.
- An integration of complementary strategies for gene-expression analysis to reveal novel therapeutic opportunities for breast cancer.
- Association between p21 Ser31Arg polymorphism and cancer risk: a meta-analysis.
- Associations between RNA splicing regulatory variants of stemness-related genes and racial disparities in susceptibility to prostate cancer.
- Biodemographic trajectories of age-specific reproliferation from stationary phase in the yeast Saccharomyces cerevisiae seem multiphasic.
- CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.
- Clinical and biological relevance of genomic heterogeneity in chronic lymphocytic leukemia.
- Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.
- Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.
- Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia.
- Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.
- Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia.
- Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
- Designing a broad-spectrum integrative approach for cancer prevention and treatment.
- Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
- Evidence for GC-biased gene conversion as a driver of between-lineage differences in avian base composition.
- Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes.
- Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.
- Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
- Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
- Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity.
- Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dioxygenases control glucosinolate biosynthesis in Arabidopsis.
- Genes and longevity: lessons from studies of centenarians.
- Genetic Heterogeneity in Depressive Symptoms Following the Death of a Spouse: Polygenic Score Analysis of the U.S. Health and Retirement Study.
- Genetic architecture of reciprocal CNVs.
- Genetic complexity and Parkinson's disease. Deane Laboratory Parkinson Disease Research Group.
- Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.
- Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.
- Genetic heterogeneity of diffuse large B-cell lymphoma.
- Genetic mapping of a novel familial form of infantile hemangioma.
- Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
- Genetic variation in insulin-like growth factor 2 may play a role in ovarian cancer risk.
- Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium.
- Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
- Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.
- Heterogeneity in Paget disease of the bone.
- Heterogeneous association between engrailed-2 and autism in the CPEA network.
- High prevalence of rare dopamine receptor D4 alleles in children diagnosed with attention-deficit hyperactivity disorder.
- Inference of tumor evolution during chemotherapy by computational modeling and in situ analysis of genetic and phenotypic cellular diversity.
- Linkage analysis with gene-environment interaction: model illustration and performance of ordered subset analysis.
- Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
- Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.
- Linkage of a gene for macular corneal dystrophy to chromosome 16.
- Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia.
- Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.
- Molecular Features Underlying Neurodegeneration Identified through In Vitro Modeling of Genetically Diverse Parkinson's Disease Patients.
- Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
- Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
- Multiple susceptibility loci for multiple sclerosis.
- Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
- Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.
- Ordered subset analysis for case-control studies.
- Ordered subset analysis in genetic linkage mapping of complex traits.
- Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.
- Parsing the genetic heterogeneity of chromosome 12q susceptibility genes for Alzheimer disease by family-based association analysis.
- Phenotypic heterogeneity in families with age-related macular degeneration.
- Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.
- Population genetics of cis-regulatory sequences that operate during embryonic development in the sea urchin Strongylocentrotus purpuratus.
- Prediction of heterogeneity in intelligence and adult prognosis by genetic polymorphisms in the dopamine system among children with attention-deficit/hyperactivity disorder: evidence from 2 birth cohorts.
- Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.
- The genetic architecture of selection at the human dopamine receptor D4 (DRD4) gene locus.
- The rise of genomic profiling in ovarian cancer.
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Keywords of People
- Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
- Davis, Erica Ellen, Associate Professor of Pediatrics, Cell Biology
- Luftig, Micah Alan, Associate Professor of Molecular Genetics and Microbiology, Molecular Genetics and Microbiology
- Moorman, Patricia Gripka, Professor in Community and Family Medicine, Duke Cancer Institute
- Wray, Gregory Allan, Professor of Biology, Evolutionary Anthropology