Genetic Markers

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  Subject Areas on Research

  • 98% IGHV gene identity is the optimal cutoff to dichotomize the prognosis of Chinese patients with chronic lymphocytic leukemia. 
  • A 90 kb DNA deletion associated with neurofibromatosis type 1. 
  • A COSII genetic map of the pepper genome provides a detailed picture of synteny with tomato and new insights into recent chromosome evolution in the genus Capsicum. 
  • A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience. 
  • A KRAS-variant in ovarian cancer acts as a genetic marker of cancer risk. 
  • A PCR-based strategy to generate integrative targeting alleles with large regions of homology. 
  • A Plan for Academic Biobank Solvency-Leveraging Resources and Applying Business Processes to Improve Sustainability. 
  • A coding and non-coding transcriptomic perspective on the genomics of human metabolic disease. 
  • A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. 
  • A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. 
  • A comprehensive survey of genomic alterations in gastric cancer reveals systematic patterns of molecular exclusivity and co-occurrence among distinct therapeutic targets. 
  • A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. 
  • A gammaGT-AT1A receptor transgene protects renal cortical structure in AT1 receptor-deficient mice. 
  • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. 
  • A genetic linkage map of Cryptococcus neoformans variety neoformans serotype D (Filobasidiella neoformans). 
  • A genetic linkage map of the laboratory rat, Rattus norvegicus. 
  • A genetic map in the Mimulus guttatus species complex reveals transmission ratio distortion due to heterospecific interactions 
  • A genomewide association study points to multiple loci that predict antidepressant drug treatment outcome in depression. 
  • A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. 
  • A high-density integrated genetic linkage and radiation hybrid map of the laboratory rat. 
  • A high-density screen for linkage in multiple sclerosis. 
  • A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. 
  • A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. 
  • A large sample of finnish diabetic sib-pairs reveals no evidence for a non-insulin-dependent diabetes mellitus susceptibility locus at 2qter. 
  • A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14. 
  • A logistic regression model for measuring gene-longevity associations. 
  • A meta-analysis of MTHFR C677T and A1298C polymorphisms and risk of acute lymphoblastic leukemia in children. 
  • A new dominant selectable marker for use in Cryptococcus neoformans. 
  • A new phase in the study of human inherited eye diseases. 
  • A phylogeny of Adelanthaceae (Jungermanniales, Marchantiophyta) based on nuclear and chloroplast DNA markers, with comments on classification, cryptic speciation and biogeography. 
  • A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasia. 
  • A physical map of 30,000 human genes. 
  • A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. 
  • A region of interstitial 17q25 allelic loss in ovarian tumors coincides with a defined region of loss in breast tumors. 
  • A second locus for familial high myopia maps to chromosome 12q. 
  • A simple and improved correction for population stratification in case-control studies. 
  • A simple procedure for the analysis of single nucleotide polymorphisms facilitates map-based cloning in Arabidopsis. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • ATM polymorphisms predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy. 
  • Accelerated epigenetic age as a biomarker of cardiovascular sensitivity to traffic-related air pollution. 
  • Adenoviral-mediated gene transfer induces sustained pericardial VEGF expression in dogs: effect on myocardial angiogenesis. 
  • Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. 
  • Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study. 
  • Advances in pharmacogenomic research and development. 
  • Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations. 
  • Age- and sex-dependent changes in levels of circulating brain-enriched microRNAs during normal aging. 
  • Age-related susceptibility to severe malaria associated with galectin-2 in highland Papuans. 
  • Allelotype analysis of uterine leiomyoma: localization of a potential tumor suppressor gene to a 4-cM region of chromosome 7q. 
  • Allelotype of endometrial carcinoma. 
  • Alternate statistical tools and limitations in genetic marker association studies in single-arm drug cancer trials. 
  • An "almost exhaustive" search-based sequential permutation method for detecting epistasis in disease association studies. 
  • An Analytical Comparison of Dako 28-8 PharmDx Assay and an E1L3N Laboratory-Developed Test in the Immunohistochemical Detection of Programmed Death-Ligand 1. 
  • An SSLP marker-anchored BAC framework map of the mouse genome. 
  • An STS-based map of the human genome. 
  • An individualized predictor of health and disease using paired reference and target samples. 
  • An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. 
  • Analysis of Huntington disease linkage and age-of-onset distributions. 
  • Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. 
  • Analysis of association at single nucleotide polymorphisms in the APOE region. 
  • Analysis of meiotic recombination events near a recombination hotspot in the yeast Saccharomyces cerevisiae. 
  • Analysis of the prostate cancer-susceptibility locus HPC20 in 172 families affected by prostate cancer. 
  • Ancient West African foragers in the context of African population history. 
  • Apolipoprotein E epsilon4 allele and outcomes of traumatic spinal cord injury. 
  • Apolipoprotein E genotype and S100beta after cardiac surgery: is inflammation the link? 
  • Application of a rank-based genetic association test to age-at-onset data from the Collaborative Study on the Genetics of Alcoholism study. 
  • Aspirin resistance and a single gene. 
  • Association between single nucleotide polymorphisms of the transforming growth factor β1 gene and the risk of severe radiation esophagitis in patients with lung cancer. 
  • Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. 
  • Association of CYP2C19 polymorphisms and lansoprazole-associated respiratory adverse effects in children. 
  • Association of GRIK4 with outcome of antidepressant treatment in the STAR*D cohort. 
  • Associations, populations, and the truth: recommendations for genetic association studies in Arthritis & Rheumatism. 
  • Attentional markers of vulnerability to schizophrenia: performance of medicated and unmedicated patients and normals. 
  • Attitudes, knowledge, and risk perceptions of women with breast and/or ovarian cancer considering testing for BRCA1 and BRCA2. 
  • Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig. 
  • Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. 
  • BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B Study. 
  • BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis. 
  • BRCA2 mutations in primary breast and ovarian cancers. 
  • Bayesian estimation of the number of inversions in the history of two chromosomes. 
  • Biological and analytical stability of a peripheral blood gene expression score for obstructive coronary artery disease in the PREDICT and COMPASS studies. 
  • Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. 
  • Blepharophimosis syndrome is linked to chromosome 3q. 
  • Blocking Interleukin (IL)4- and IL13-Mediated Phosphorylation of STAT6 (Tyr641) Decreases M2 Polarization of Macrophages and Protects Against Macrophage-Mediated Radioresistance of Inflammatory Breast Cancer. 
  • Breast cancer screening-individualized risk assessment and application of new research technology: non-protein bound estradiol and chromosome analysis. 
  • COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. 
  • CYP1A1 genetic polymorphism is a promising predictor to improve chemotherapy effects in patients with metastatic breast cancer treated with docetaxel plus thiotepa vs. docetaxel plus capecitabine. 
  • Calcium- and calcineurin-independent roles for calmodulin in Cryptococcus neoformans morphogenesis and high-temperature growth. 
  • Cell plasticity in lung injury and repair: report from an NHLBI workshop, April 19-20, 2010. 
  • Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery. 
  • Characterization of free-floating spheres from human trabecular meshwork (HTM) cell culture in vitro. 
  • Characterization of frequently deleted 6q locus in prostate cancer. 
  • Characterization of neo-centromeres in marker chromosomes lacking detectable alpha-satellite DNA. 
  • Chorea-acanthocytosis: genetic linkage to chromosome 9q21. 
  • Chromosomal progression of malignant human gliomas from biopsy to establishment as permanent lines in vitro. 
  • Chromosome 17q12 variants contribute to risk of early-onset prostate cancer. 
  • Chromosome 8q24 markers: risk of early-onset and familial prostate cancer. 
  • Cigarette smoke modulates vascular smooth muscle phenotype: implications for carotid and cerebrovascular disease. 
  • Clinical genomic testing: getting it right. 
  • Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21. 
  • Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family. 
  • Cloning, characterization, and genetic mapping of the rat type 2 angiotensin II receptor gene. 
  • Coexistence of macular corneal dystrophy types I and II in a single sibship. 
  • Common genetic variants on 5p14.1 associate with autism spectrum disorders. 
  • Common variants within 6p21.31 locus are associated with chronic lymphocytic leukaemia and, potentially, other non-Hodgkin lymphoma subtypes. 
  • Comparative genetic mapping in Boechera stricta, a close relative of Arabidopsis. 
  • Comparing the linkage maps of the close relatives Arabidopsis lyrata and A. thaliana. 
  • Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. 
  • Complex phenotypes and phenomenon of genome-wide inter-chromosomal linkage disequilibrium in the human genome. 
  • Comprehensive analysis of LAMC1 genetic variants in advanced pelvic organ prolapse. 
  • Concatenation and concordance in the reconstruction of mouse lemur phylogeny: an empirical demonstration of the effect of allele sampling in phylogenetics. 
  • Concurrent PEDF deficiency and Kras mutation induce invasive pancreatic cancer and adipose-rich stroma in mice. 
  • Confirmation of linkage in von Hippel-Lindau disease. 
  • Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. 
  • Consequences of recombination rate variation on quantitative trait locus mapping studies. Simulations based on the Drosophila melanogaster genome. 
  • Conserved genomic collinearity as a source of broadly applicable, fast evolving, markers to resolve species complexes: A case study using the lichen-forming genus Peltigera section Polydactylon. 
  • Construction of a Recyclable Genetic Marker and Serial Gene Deletions in the Human Pathogenic Mucorales Mucor circinelloides. 
  • Conversion-type and restoration-type repair of DNA mismatches formed during meiotic recombination in Saccharomyces cerevisiae. 
  • Correspondence re: Zheng et al, Haplotype of two variants in p16 (CDKN2/MTS-1/INK4a) exon 3 and risk of squamous cell carcinoma of the head and neck: a case-control study. 11: 640-645, 2002. 
  • Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs). 
  • Cosmids map two incontinentia pigmenti type 1 (IP1) translocation breakpoints to a 180-kb region within a 1.2-Mb YAC contig. 
  • Coupled mutagenesis screens and genetic mapping in zebrafish. 
  • Covariate analysis of late-onset Alzheimer disease refines the chromosome 12 locus. 
  • Crossover interference on nucleolus organizing region-bearing chromosomes in Arabidopsis. 
  • Cytogenetic assignment and physical mapping of the human DGKE gene to chromosome 17q22. 
  • Cytosine deaminase MX cassettes as positive/negative selectable markers in Saccharomyces cerevisiae. 
  • DNA methylation at imprint regulatory regions in preterm birth and infection. 
  • DNA ploidy in nonseminomatous germ cell testicular tumor. 
  • Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma. 
  • Dependence of paracentric inversion rate on tract length. 
  • Design and Implementation of the International Genetics and Translational Research in Transplantation Network. 
  • Detecting colorectal cancer in stool with the use of multiple genetic targets. 
  • Detection and localization of a single binary trait locus in experimental populations. 
  • Detection of frequent allelic loss on proximal chromosome 17q in sporadic breast carcinoma using microsatellite length polymorphisms. 
  • Development and characterization of a genetic linkage map of Cryptococcus neoformans var. neoformans using amplified fragment length polymorphisms and other markers. 
  • Development of a high-efficiency method for gene marking of Dunning prostate cancer cell lines with the enzyme beta-galactosidase. 
  • Developmental regulation of p66Shc is altered by bronchopulmonary dysplasia in baboons and humans. 
  • Direct allelic variation scanning of the yeast genome. 
  • Distal nephron renal tumors: microsatellite allelotype. 
  • Distinct regions of allelic loss on 13q in prostate cancer. 
  • Divergent population structure and climate associations of a chromosomal inversion polymorphism across the Mimulus guttatus species complex. 
  • DsdA (D-serine deaminase): a new heterologous MX cassette for gene disruption and selection in Saccharomyces cerevisiae. 
  • Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. 
  • Early ovarian cancer: a review of its genetic and biologic factors, detection, and treatment. 
  • Early rheumatoid arthritis. 
  • Efficient in vivo gene transfer into the heart in the rat myocardial infarction model using the HVJ (Hemagglutinating Virus of Japan)--liposome method. 
  • Elevated frequency of microsatellite mutations in TK6 human lymphoblast clones selected for mutations at the thymidine kinase locus. 
  • Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. 
  • Epigenetic Signatures of Cigarette Smoking. 
  • Epigenetic detection of human chromosome 14 uniparental disomy. 
  • Epigenetic profiling identifies novel genes for ascending aortic aneurysm formation with bicuspid aortic valves. 
  • Establishment of a high-efficiency SNP-based framework marker set for Arabidopsis. 
  • Estimating Survival in Melanoma Patients With Brain Metastases: An Update of the Graded Prognostic Assessment for Melanoma Using Molecular Markers (Melanoma-molGPA). 
  • Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study. 
  • Evaluation of microsatellite instability, hMLH1 expression and hMLH1 promoter hypermethylation in defining the MSI phenotype of colorectal cancer. 
  • Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. 
  • Evidence for selection at multiple allozyme loci across a mussel hybrid zone. 
  • Evidence of sexual recombination among Cryptococcus neoformans serotype A isolates in sub-Saharan Africa. 
  • Examination of Potential Modifiers of the Association of APOL1 Alleles with CKD Progression. 
  • Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. 
  • Expanding studies of chromosome structure and function in the era of T2T genomics. 
  • Extension of multifactor dimensionality reduction for identifying multilocus effects in the GAW14 simulated data. 
  • False positive rates in a genomic screen for complex quantitative traits. 
  • Familial inheritance of a DXS164 deletion mutation from a heterozygous female. 
  • Familial leukoencephalopathy in bipolar disorder. 
  • Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. 
  • Fine localization of the CMT4A locus using a PAC contig and haplotype analysis. 
  • Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 
  • Fine mapping of Wilms' tumors with 16q loss of heterozygosity localizes the putative tumor suppressor gene to a region of 6.7 megabases. 
  • Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. 
  • Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. 
  • Fine mapping of the Pc locus of Sorghum bicolor, a gene controlling the reaction to a fungal pathogen and its host-selective toxin. 
  • Flanking markers define the X-linked hypophosphatemic rickets gene locus. 
  • Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). 
  • Flow cytometric assessment of deoxyribonucleic acid content in renal adenocarcinoma: does ploidy status enhance prognostic stratification over stage alone? 
  • Frequency of homozygous deletion at p16/CDKN2 in primary human tumours. 
  • Functional polymorphisms of base excision repair genes XRCC1 and APEX1 predict risk of radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy. 
  • Further exclusion of FSHD1B from the telomeric region of 10q. 
  • Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis. 
  • GLIOGENE an International Consortium to Understand Familial Glioma. 
  • Gene conversion and crossing over along the 405-kb left arm of Saccharomyces cerevisiae chromosome VII. 
  • Gene duplication in the diversification of secondary metabolism: tandem 2-oxoglutarate-dependent dioxygenases control glucosinolate biosynthesis in Arabidopsis. 
  • Gene duplications at the chemokine locus on mouse chromosome 4: multiple strain-specific haplotypes and the deletion of secondary lymphoid-organ chemokine and EBI-1 ligand chemokine genes in the plt mutation. 
  • Gene expression markers for Caenorhabditis elegans vulval cells. 
  • Gene expression profiling and genetic markers in glioblastoma survival. 
  • Gene expression profiling of mouse bladder inflammatory responses to LPS, substance P, and antigen-stimulation. 
  • Gene expression profiling of peritoneal metastases from appendiceal and colon cancer demonstrates unique biologic signatures and predicts patient outcomes. 
  • Gene-trait similarity regression for multimarker-based association analysis. 
  • Generation of Dhx9-deficient clones in T-cell development with a mitotic recombination technique. 
  • Genes and longevity: lessons from studies of centenarians. 
  • Genetic analysis of MRL-lpr mice: relationship of the Fas apoptosis gene to disease manifestations and renal disease-modifying loci. 
  • Genetic analysis of a meiotic recombination hotspot on chromosome III of Saccharomyces cerevisiae. 
  • Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations. 
  • Genetic analysis of multiplex rheumatoid arthritis families. 
  • Genetic analysis of susceptibility to Chlamydia trachomatis in mouse. 
  • Genetic analysis workshop IV: Huntington disease linkage analysis summary. 
  • Genetic and functional association of FAM5C with myocardial infarction. 
  • Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. 
  • Genetic determinants in HIV-1 Gag and Env V3 are related to viral response to combination antiretroviral therapy with a protease inhibitor. 
  • Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. 
  • Genetic epidemiology of neural tube defects. 
  • Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. 
  • Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. 
  • Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I. 
  • Genetic linkage of hyper-IgE syndrome to chromosome 4. 
  • Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. 
  • Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1). 
  • Genetic mapping of a novel familial form of infantile hemangioma. 
  • Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. 
  • Genetic markers data in survival studies of twins: the results of a simulation study. 
  • Genetic markers of suicidal ideation emerging during citalopram treatment of major depression. 
  • Genetic markers: progress and potential for cardiovascular disease. 
  • Genetic recombination of poliovirus in a cell-free system. 
  • Genetic structure of typical and atypical populations of Candida albicans from Africa. 
  • Genetic studies in autistic disorder and chromosome 15. 
  • Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. 
  • Genetic variants are not associated with outcome in patients with coronary artery disease and left ventricular dysfunction: results of the Genetic Substudy of the Surgical Treatment for Ischemic Heart Failure (STICH) trials. 
  • Genetic variation in the prostaglandin E2 pathway is associated with primary graft dysfunction. 
  • Genetic variation in the spread of Drosophila subobscura from a nonequilibrium population. 
  • Genetics of drought adaptation in Arabidopsis thaliana II. QTL analysis of a new mapping population, KAS-1 x TSU-1. 
  • GenoWatch: a disease gene mining browser for association study. 
  • Genome maps 7. The human transcript map. Wall chart. 
  • Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. 
  • Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. 
  • Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4. 
  • Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci. 
  • Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients. 
  • Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer study (AAHPC). 
  • Genome-wide linkage scan in fuchs endothelial corneal dystrophy. 
  • Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci. 
  • Genomic FHIT analysis in RER+ and RER- adenocarcinomas of the pancreas. 
  • Genomic medicine: bringing biomarkers to clinical medicine. 
  • Genomic organization and polymorphism of human angiotensin II type 2 receptor: no evidence for its gene mutation in two families of human premature ovarian failure syndrome. 
  • Genomic predictors of the maximal O₂ uptake response to standardized exercise training programs. 
  • Genomic resources for the endangered Hawaiian honeycreepers. 
  • Genotyping Array Design and Data Quality Control in the Million Veteran Program. 
  • Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. 
  • Germline transcription from T-cell receptor Vbeta gene is uncoupled from allelic exclusion. 
  • Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. 
  • Going green in Cryptococcus neoformans: the recycling of a selectable drug marker. 
  • Grade-of-membership sibpair linkage analysis maps IDDM11 to chromosome 14q24.3-q31. 
  • HIV-1 Nef induces dedifferentiation of podocytes in vivo: a characteristic feature of HIVAN. 
  • Haploidy and androgenesis in Drosophila. 
  • Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. 
  • Haplotypes of two variants in p16 (CDKN2/MTS-1/INK4a) exon 3 and risk of squamous cell carcinoma of the head and neck: a case-control study. 
  • Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. 
  • Hereditary prostate cancer in African American families: linkage analysis using markers that map to five candidate susceptibility loci. 
  • Heterologous URA3MX cassettes for gene replacement in Saccharomyces cerevisiae. 
  • High relative deoxyribonucleic acid content of trophectoderm biopsy adversely affects pregnancy outcomes. 
  • Homothallic conversions of yeast mating-type genes occur by intrachromosomal recombination. 
  • How proxies make decisions about research for patients with Alzheimer's disease. 
  • How the effects of aging and stresses of life are integrated in mortality rates: insights for genetic studies of human health and longevity. 
  • Human GFRA1: cloning, mapping, genomic structure, and evaluation as a candidate gene for Hirschsprung disease susceptibility. 
  • Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers. 
  • Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus. 
  • Hypoxia in the thymus: role of oxygen tension in thymocyte survival. 
  • Identification and characterization of proximal 6q deletions in prostate cancer. 
  • Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. 
  • Identification of a structurally distinct CD101 molecule encoded in the 950-kb Idd10 region of NOD mice. 
  • Identification of genes contributing to the obese yellow Avy phenotype: caloric restriction, genotype, diet x genotype interactions. 
  • Identification of genetic markers to 20 NIDDM candidate genes by radiation hybrid analysis. 
  • Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism. 
  • Identification of the single base change causing the callipyge muscle hypertrophy phenotype, the only known example of polar overdominance in mammals. 
  • Immune-inflammation gene signatures in endometriosis patients. 
  • Impact of the Percepta Genomic Classifier on Clinical Management Decisions in a Multicenter Prospective Study. 
  • Individualized therapy for hepatitis C infection: focus on the interleukin-28B polymorphism in directing therapy. 
  • Integrated metabolomics and genomics: systems approaches to biomarkers and mechanisms of cardiovascular disease. 
  • Integrating chemical mutagenesis and whole-genome sequencing as a platform for forward and reverse genetic analysis of Chlamydia. 
  • Interaction between genetic background and the mating-type locus in Cryptococcus neoformans virulence potential. 
  • Interleukin-1 receptor-associated kinase-1: more evidence. 
  • Interpretation of simultaneous linkage and family-based association tests in genome screens. 
  • Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. 
  • Intersection tests for single marker QTL analysis can be more powerful than two marker QTL analysis. 
  • Investigation of the PARK10 gene in Parkinson disease. 
  • Is the aneuploid chromosome in an apomictic Boechera holboellii a genuine B chromosome? 
  • Isolation of human sequences that replicate autonomously in human cells. 
  • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 
  • Lack of Duffy antigen expression is associated with organ damage in patients with sickle cell disease. 
  • Lack of association between autism and SLC25A12. 
  • Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. 
  • Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets. 
  • Linkage analysis in familial amyotrophic lateral sclerosis. 
  • Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease. 
  • Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17. 
  • Linkage analysis of 153 prostate cancer families over a 30-cM region containing the putative susceptibility locus HPCX. 
  • Linkage analysis of candidate myelin genes in familial multiple sclerosis. 
  • Linkage analysis of familial Alzheimer disease, using chromosome 21 markers. 
  • Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8. 
  • Linkage and association with type 1 diabetes on chromosome 1q42. 
  • Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing. 
  • Linkage localization of X-linked Charcot-Marie-Tooth disease. 
  • Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. 
  • Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q. 
  • Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. 
  • Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 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 locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. 
  • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 
  • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 
  • Linkage studies in familial Alzheimer's disease. 
  • Linkage studies in peripheral neurofibromatosis. 
  • Local adaptation across a climatic gradient despite small effective population size in the rare sapphire rockcress. 
  • Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. 
  • Long Noncoding RNAs in Atherosclerosis and Vascular Injury: Pathobiology, Biomarkers, and Targets for Therapy. 
  • Loss of heterozygosity at the mannose 6-phosphate insulin-like growth factor 2 receptor (M6P/IGF2R) locus predisposes patients to radiation-induced lung injury. 
  • Loss of heterozygosity for 10q loci in human gliomas. 
  • Low enzymatic activity haplotypes of the human catechol-O-methyltransferase gene: enrichment for marker SNPs. 
  • Low-copy nuclear sequence data confirm complex patterns of farina evolution in notholaenid ferns (Pteridaceae) 
  • Major QTLs for critical photoperiod and vernalization underlie extensive variation in flowering time in the Mimulus guttatus species complex. 
  • Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology. 
  • Mapping of sex determination loci on the white campion (Silene latifolia) Y chromosome using amplified fragment length polymorphism. 
  • Mapping strategies for multiple linked markers. 
  • Matrix metalloproteinase-9 genetic polymorphisms and the risk for advanced pelvic organ prolapse. 
  • Maximum-likelihood estimation of rates of recombination within mating-type regions. 
  • Meta-analysis investigating associations between healthy diet and fasting glucose and insulin levels and modification by loci associated with glucose homeostasis in data from 15 cohorts. 
  • Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group. 
  • Methylation of the thyroid-stimulating hormone receptor gene in epithelial thyroid tumors: a marker of malignancy and a cause of gene silencing. 
  • Microphthalmia-associated transcription factor (MITF) locus lacks linkage to human vitiligo or osteopetrosis: an evaluation. 
  • Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus. 
  • Molecular Tools for the Yeast Papiliotrema terrestris LS28 and Identification of Yap1 as a Transcription Factor Involved in Biocontrol Activity. 
  • Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. 
  • Molecular biologic substaging of stage I lung cancer according to gender and histology. 
  • Molecular biomarkers in glaucoma. 
  • Molecular genetic parameters in pathogenesis and prognosis of testicular germ cell tumors. 
  • Molecular genetics of nicotine dependence and abstinence: whole genome association using 520,000 SNPs. 
  • Molecular genetics of successful smoking cessation: convergent genome-wide association study results. 
  • Molecular markers for incidence, prognosis, and response to therapy. 
  • Molecular markers in ductal carcinoma in situ of the breast. 
  • Molecular markers reveal that population structure of the human pathogen Candida albicans exhibits both clonality and recombination. 
  • Molecular staging of lung and esophageal cancer. 
  • Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. 
  • Multilocus mapping of the X-linked hypophosphatemic rickets gene. 
  • Multiple gene deletion in Cryptococcus neoformans using the Cre-lox system. 
  • Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using tailed primers and infrared fluorescence detection. 
  • Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line. 
  • Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. 
  • Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 
  • Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. 
  • Neonatal W-mutant mice are favorable hosts for tracking development of marked hematopoietic stem cells. 
  • Neurocognitive disorders in DSM-5. 
  • Neuroendocrine gene polymorphisms and susceptibility to juvenile idiopathic arthritis. 
  • New developments in proteomics. 
  • New insights into gestational glucose metabolism: lessons learned from 21st century approaches. 
  • New neuroblast markers and the origin of the aCC/pCC neurons in the Drosophila central nervous system. 
  • North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. 
  • North Carolina macular dystrophy is assigned to chromosome 6. 
  • Of cardiovascular illness and diversity of biological response. 
  • One species or at least eight? Delimitation and distribution of Frullania tamarisci (L.) Dumort. s. l. (Jungermanniopsida, Porellales) inferred from nuclear and chloroplast DNA markers. 
  • Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22. 
  • PCR-restriction fragment length polymorphism (RFLP) analyses reveal both extensive clonality and local genetic differences in Candida albicans. 
  • PTEN mutation in endometrial cancers is associated with favorable clinical and pathologic characteristics. 
  • Patterns of heteroduplex formation associated with the initiation of meiotic recombination in the yeast Saccharomyces cerevisiae. 
  • Pedigree generation for analysis of genetic linkage and association. 
  • PenPC: A two-step approach to estimate the skeletons of high-dimensional directed acyclic graphs. 
  • Pharmacogenetics of toxic epidermal necrolysis. 
  • Pharmacogenomics of adverse drug reactions: implementing personalized medicine. 
  • Pharmacogenomics-Driven Prediction of Antidepressant Treatment Outcomes: A Machine-Learning Approach With Multi-trial Replication. 
  • Physical and cDNA mapping in the DBH region of human chromosome 9q34. 
  • Physical maps for genome analysis of serotype A and D strains of the fungal pathogen Cryptococcus neoformans. 
  • Plasmids for recombination-based screening. 
  • Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. 
  • Polytene chromosomal maps of 11 Drosophila species: the order of genomic scaffolds inferred from genetic and physical maps. 
  • Population genetics of a polyploid: is there hybridization between lineages of Hyla versicolor? 
  • Positive and negative selection LYS5MX gene replacement cassettes for use in Saccharomyces cerevisiae. 
  • Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers. 
  • Preoperative Single-Fraction Partial Breast Radiation Therapy: A Novel Phase 1, Dose-Escalation Protocol With Radiation Response Biomarkers. 
  • Presence of large deletions in kindreds with autism. 
  • Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies. 
  • Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma. 
  • Prognostic factors in low-stage nonseminomatous testicular cancer. 
  • Protective role of the apolipoprotein E2 allele in age-related disease traits and survival: evidence from the Long Life Family Study. 
  • Proxies and consent discussions for dementia research. 
  • QPCR: a tool for analysis of mitochondrial and nuclear DNA damage in ecotoxicology. 
  • Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. 
  • Quantitative and Qualitative Role of Antagonistic Heterogeneity in Genetics of Blood Lipids. 
  • Radiographic severity of knee osteoarthritis is conditional on interleukin 1 receptor antagonist gene variations. 
  • Random Forests approach for identifying additive and epistatic single nucleotide polymorphisms associated with residual feed intake in dairy cattle. 
  • Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk. 
  • Recent divergence, intercontinental dispersal and shared polymorphism are shaping the genetic structure of amphi-Atlantic peatmoss populations. 
  • Recombination of 4p16 DNA markers in an unusual family with Huntington disease. 
  • Recombination, statistical power, and genetic studies of sexual isolation in Drosophila. 
  • Recommendations for national and local regulatory authorities concerning research in genetic markers of disease. 
  • Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. 
  • Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. 
  • Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia locus (CPX) including the proximal X-Y homology breakpoint within Xq21.3. 
  • Regional localization of the human genes for S-adenosylhomocysteine hydrolase (cen----q131) and adenosine deaminase (q131----qter) on chromosome 20. 
  • Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. 
  • Relationship between gene amplification and chromosomal deviations in malignant human gliomas. 
  • Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 
  • Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. 
  • Report and abstracts of the 4th International Workshop on Chromosome 9. Williamsburg, Virginia, USA, April 23-25, 1995. 
  • Report of the committee on the genetic constitution of chromosome 19. 
  • Report of the committee on the genetic constitution of chromosomes 18 and 19. 
  • Retrograde influence of muscle fibers on their innervation revealed by a novel marker for slow motoneurons. 
  • Robust Transgene Expression from Bicistronic mRNA in the Green Alga Chlamydomonas reinhardtii. 
  • SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach. 
  • Screening for hormonal, monogenic, and syndromic disorders in obese infants and children. 
  • Screening for the breast cancer gene (BRCA1) using a biochip system and molecular beacon probes immobilized on solid surfaces. 
  • Segregation at three loci explains familial and population risk in Hirschsprung disease. 
  • Serial EUS-Guided FNA for the Surveillance of Pancreatic Cysts: A Study of Long-Term Performance of Tumor Markers. 
  • Shrinkage estimation for robust and efficient screening of single-SNP association from case-control genome-wide association studies. 
  • Significance of MDM2 and P14 ARF polymorphisms in susceptibility to differentiated thyroid carcinoma. 
  • Simultaneous consideration of multiple candidate protein biomarkers for long-term risk for cardiovascular events. 
  • Statistical considerations for analysis of microarray experiments. 
  • Structural chromosomal abnormalities in human medulloblastoma. 
  • Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals. 
  • Surface proteins of a transitional carcinoma cell line (KS-31E). 
  • Targeted Epigenetic Remodeling of Endogenous Loci by CRISPR/Cas9-Based Transcriptional Activators Directly Converts Fibroblasts to Neuronal Cells. 
  • Targeted deletion of 5'HS2 of the murine beta-globin LCR reveals that it is not essential for proper regulation of the beta-globin locus. 
  • Testing different communication formats on responses to imagined risk of having versus missing the GSTM1 gene. 
  • The 8.5-kb PstI allele of the stress protein gene, Hsp70-2: an independent risk factor for systemic lupus erythematosus in African Americans? 
  • The Effect of Gene Alterations and Tyrosine Kinase Inhibition on Survival and Cause of Death in Patients With Adenocarcinoma of the Lung and Brain Metastases. 
  • The FKBP5-gene in depression and treatment response--an association study in the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) Cohort. 
  • The Function of TrophomiRs and Other MicroRNAs in the Human Placenta. 
  • The chromosomal mapping of four genes encoding winged helix proteins expressed early in mouse development. 
  • The current clinical value of the DCIS Score. 
  • The genetic basis of developmental abnormalities in interpopulation hybrids of the moss Ceratodon purpureus. 
  • The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene. 
  • The molecular basis of quantitative genetic variation in central and secondary metabolism in Arabidopsis. 
  • The multiple causes of human SCID. 
  • The narrow endemic Norwegian peat moss Sphagnum troendelagicum originated before the last glacial maximum. 
  • The phenotypic and genetic signatures of common musculoskeletal pain conditions. 
  • The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. 
  • The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. 
  • The spatial scale of genetic subdivision in populations of Ifremeria nautilei, a hydrothermal-vent gastropod from the southwest Pacific. 
  • Traditional risk factors and combined genetic markers of recurrent ischemic stroke in adults: Comment from Wilson et al. 
  • Transcriptional regulation of Src homology 2 domain-containing leukocyte phosphoprotein of 76 kDa: dissection of key promoter elements. 
  • Transmission ratio distortion in intraspecific hybrids of Mimulus guttatus: implications for genomic divergence. 
  • Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. 
  • Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis. 
  • Two-locus genome-wide linkage scan for prostate cancer susceptibility genes with an interaction effect. 
  • Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. 
  • Uniparental mitochondrial transmission in sexual crosses in Cryptococcus neoformans. 
  • Unisexual reproduction drives meiotic recombination and phenotypic and karyotypic plasticity in Cryptococcus neoformans. 
  • Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. 
  • Use of pathway information in molecular epidemiology. 
  • Validation of DNA methylation biomarkers for diagnosis of acute lymphoblastic leukemia. 
  • Virulence attributes and hyphal growth of C. neoformans are quantitative traits and the MATalpha allele enhances filamentation. 
  • What is the role of pharmacogenetics in clinical psychiatry? 
  • Whole blood sequencing reveals circulating microRNA associations with high-risk traits in non-ST-segment elevation acute coronary syndrome. 
  • Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. 
  • X-APL: an improved family-based test of association in the presence of linkage for the X chromosome. 
  • X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design. 
  • X-linked neuropathy: gene localization with DNA probes. 
  • Young Investigator Challenge: Molecular testing in noninvasive follicular thyroid neoplasm with papillary-like nuclear features. 
  • gli-1 Oncogene is highly expressed in granulomatous skin disorders, including sarcoidosis, granuloma annulare, and necrobiosis lipoidica diabeticorum. 
• 

  Keywords of People

  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Buckley, Rebecca Hatcher, James Buren Sidbury Distinguished Professor Emeritus of Pediatrics, in the School of Medicine, Pediatrics, Allergy and Immunology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Li, Yi-Ju, Professor of Biostatistics & Bioinformatics, Biostatistics & Bioinformatics
  • McLendon, Roger Edwin, Professor of Pathology, Pathology
  • Schultz, Thomas F., Assistant Professor of the Practice of Marine Molecular Conservation, Marine Science and Conservation