Genetic Linkage

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  Subject Areas on Research

  • 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 High-Resolution Map of Meiotic Recombination in Cryptococcus deneoformans Demonstrates Decreased Recombination in Unisexual Reproduction. 
  • A Segregating Inversion Generates Fitness Variation in Yellow Monkeyflower (Mimulus guttatus). 
  • 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 deletion unit on chromosome 17q in epithelial ovarian tumors distal to the familial breast/ovarian cancer locus. 
  • A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. 
  • A functional promoter haplotype of macrophage migration inhibitory factor is linked and associated with juvenile idiopathic arthritis. 
  • A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. 
  • A gene for familial venous malformations maps to chromosome 9p in a second large kindred. 
  • A gene hunting we will go! 
  • 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 genome-wide linkage analysis of dementia in the Amish. 
  • A genome-wide linkage and association scan reveals novel loci for autism. 
  • A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p. 
  • A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. 
  • A genomic screen of autism: evidence for a multilocus etiology. 
  • A high-density integrated genetic linkage and radiation hybrid map of the laboratory rat. 
  • A high-density screen for linkage in multiple sclerosis. 
  • A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. 
  • A microsatellite linkage map of Drosophila mojavensis. 
  • A molecular genetic approach to amyotrophic lateral sclerosis. 
  • A multigene family encoding a diverse array of putative pheromone receptors in mammals. 
  • A new phase in the study of human inherited eye diseases. 
  • A new probe for the diagnosis of myotonic muscular dystrophy. 
  • A new tightly linked DNA probe for myotonic dystrophy. 
  • A novel genetic locus modulates infarct volume independently of the extent of collateral circulation. 
  • A novel meiotic drive locus almost completely distorts segregation in mimulus (monkeyflower) hybrids. 
  • A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS. 
  • A physical map across chromosome 11q22-q23 containing the major locus for ataxia telangiectasia. 
  • A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. 
  • A single genetic locus determines the efficacy of serum therapy against murine adenocarcinoma 755a. 
  • A sparse transmission disequilibrium test for haplotypes based on Bradley-Terry graphs. 
  • A syndrome of autosomal dominant alternating hemiplegia: clinical presentation mimicking intractable epilepsy; chromosomal studies; and physiologic investigations. 
  • A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27. 
  • A variable age of onset segregation model for linkage analysis, with correction for ascertainment, applied to glioma. 
  • APOE ε4-TOMM40 '523 haplotypes and the risk of Alzheimer's disease in older Caucasian and African Americans. 
  • Absence of linkage of ABO blood group locus to familial tuberous sclerosis. 
  • Absence of truncating BRIP1 mutations in chromosome 17q-linked hereditary prostate cancer families. 
  • Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity. 
  • Adjusting for covariates on a slippery slope: linkage analysis of change over time. 
  • Adult-onset primary open angle glaucoma does not localize to chromosome 2cen-q13 in North American families. 
  • Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations. 
  • African-American heredity prostate cancer study: a model for genetic research. 
  • Age-of-onset heterogeneity in Huntington disease families. 
  • Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. 
  • An autosomal genomic screen for dementia in an extended Amish family. 
  • An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease. 
  • An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 
  • An inherited abnormality of neutrophil adhesion. Its genetic transmission and its association with a missing protein. 
  • An international collaborative family-based whole genome quantitative trait linkage scan for myopic refractive error. 
  • An international collaborative family-based whole-genome linkage scan for high-grade myopia. 
  • Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families. 
  • Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis. 
  • Analysis of association at single nucleotide polymorphisms in the APOE region. 
  • Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes. 
  • Analysis of the junction between ribosomal RNA genes and single-copy chromosomal sequences in the yeast Saccharomyces cerevisiae. 
  • Apolipoprotein E and Alzheimer's disease. 
  • Assessing inheritance of agammaglobulinemia. 
  • Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms. 
  • Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia. 
  • Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease. 
  • Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. 
  • Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. 
  • BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis. 
  • Bacillus species infection of the skin as a presentation of severe combined immunodeficiency disease. 
  • Bayesian and maximum likelihood estimation of genetic maps. 
  • Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. 
  • Blepharophimosis syndrome is linked to chromosome 3q. 
  • COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus. 
  • Challenges in elucidating the genetics of diabetic retinopathy. 
  • Challenges in the phenotypic characterisation of patients in genetic studies of coronary artery disease. 
  • Chorea-acanthocytosis: genetic linkage to chromosome 9q21. 
  • Chromosomal localization of seven members of the murine TGF-beta superfamily suggests close linkage to several morphogenetic mutant loci. 
  • Chromosomal localization of the ankyrinG gene (ANK3/Ank3) to human 10q21 and mouse 10. 
  • Chromosomal organization of rRNA operons in Bacillus subtilis. 
  • Chromosomal rearrangements accompanying yeast mating-type switching: evidence for a gene-conversion model. 
  • Chromosome 17q12 variants contribute to risk of early-onset prostate cancer. 
  • Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG. 
  • Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. 
  • Circadian clock-controlled genes isolated from Neurospora crassa are late night- to early morning-specific. 
  • Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis. 
  • Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. 
  • Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? 
  • 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 and characterization of DNA sequences surrounding the human gamma-, delta-, and beta-globin genes. 
  • Cloning and structural analysis of the human c-kit gene. 
  • Close genetic and physical linkage between the murine haemopoietic growth factor genes GM-CSF and Multi-CSF (IL3). 
  • Coevolution of self-fertilization and inbreeding depression. III. Homozygous lethal mutations at multiple loci. 
  • Coevolution of the major histocompatibility complex and the t-complex in the mouse. II. Modification of response to sharing of histocompatibility antigens. 
  • Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish. 
  • Combined genome-wide scan for prostate cancer susceptibility genes. 
  • Comparative genetic mapping in Boechera stricta, a close relative of Arabidopsis. 
  • Comparing the linkage maps of the close relatives Arabidopsis lyrata and A. thaliana. 
  • Comparison of direct and indirect methods of carrier detection in an X-linked disease. 
  • Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. 
  • Complex genetic interactions in a quantitative trait locus. 
  • Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. 
  • Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22. 
  • Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation. 
  • Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13. 
  • Conservation of Y-linked genes during human evolution revealed by comparative sequencing in chimpanzee. 
  • Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. 
  • Convergent evolution of linked mating-type loci in basidiomycete fungi. 
  • Copy number variation at chromosome 5q21.2 is associated with intraocular pressure. 
  • Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs). 
  • Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. 
  • D2 dopamine receptor A1 allele in Alzheimer disease and aging. 
  • DNaseI hypersensitivity at gene-poor, FSH dystrophy-linked 4q35.2. 
  • Deletions in CCM2 are a common cause of cerebral cavernous malformations. 
  • Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study. 
  • Detection of minor drug-resistant populations by parallel allele-specific sequencing. 
  • Development and characterization of a genetic linkage map of Cryptococcus neoformans var. neoformans using amplified fragment length polymorphisms and other markers. 
  • Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. 
  • Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. 
  • Direct allelic variation scanning of the yeast genome. 
  • Dissecting the architecture of a quantitative trait locus in yeast. 
  • Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. 
  • Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. 
  • Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation. 
  • Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. 
  • Effects of calcitriol and phosphorus therapy on the growth of patients with X-linked hypophosphatemia. 
  • Effects of covariates: a summary of Group 5 contributions. 
  • Electrophysiological findings in X-linked myopathy with excessive autophagy. 
  • Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes. 
  • Evidence for linkage of HLA loci in juvenile idiopathic oligoarthritis: independent effects of HLA-A and HLA-DRB1. 
  • Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. 
  • Evidence for multiple loci from a genome scan of autism kindreds. 
  • Evidence that a locus for familial high myopia maps to chromosome 18p. 
  • Evolution of the segregation ratio: modification of gene conversion and meiotic drive. 
  • Evolution of the sex-related locus and genomic features shared in microsporidia and fungi. 
  • Examination of seven candidate regions for multiple sclerosis: strong evidence of linkage to chromosome 1q44. 
  • Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. 
  • Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. 
  • Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia. 
  • Expression of Mls determinants in mice exhibiting the severe combined immunodeficiency (scid) mutation or X-linked immunodeficiency (xid) defect. 
  • Expression of the gene defect in X-linked agammaglobulinemia. 
  • False positive rates in a genomic screen for complex quantitative traits. 
  • Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. 
  • Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. 
  • Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. 
  • Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. 
  • Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5. 
  • Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. 
  • Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 
  • Fine-mapping the putative chromosome 17q21-22 prostate cancer susceptibility gene to a 10 cM region based on linkage analysis. 
  • Flanking markers define the X-linked hypophosphatemic rickets gene locus. 
  • Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). 
  • Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. 
  • Forward and Reverse Genetic Analysis of Chlamydia. 
  • Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. 
  • Fungal genome and mating system transitions facilitated by chromosomal translocations involving intercentromeric recombination. 
  • Further evidence linking late-onset Alzheimer disease with chromosome 12. 
  • GLIOGENE an International Consortium to Understand Familial Glioma. 
  • Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort. 
  • Gene-trait similarity regression for multimarker-based association analysis. 
  • Genes and recent developments in the epidemiology of Alzheimer's disease and related dementia. 
  • Genetic analysis for common complex disease. 
  • Genetic analysis of MRL-lpr mice: relationship of the Fas apoptosis gene to disease manifestations and renal disease-modifying loci. 
  • 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 analysis workshop IV: Huntington disease linkage analysis, data description. 
  • Genetic and physiological basis of adaptive salt tolerance divergence between coastal and inland Mimulus guttatus. 
  • Genetic basis for clinical expression in multiple sclerosis. 
  • Genetic complexity and Parkinson's disease. Deane Laboratory Parkinson Disease Research Group. 
  • Genetic contributions to myopic refractive error: Insights from human studies and supporting evidence from animal models. 
  • Genetic control of the immune response to nuclease. V. Genetic linkage and strain distribution of anti-nuclease idiotypes. 
  • Genetic control of the immune response to staphylococcal nuclease in mice. 
  • Genetic control of the immune response to staphylococcal nuclease. VII. Role of non-H2-linked genes in the control of the anti-nuclease antibody response. 
  • Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study. 
  • Genetic determinants of retinal vascular caliber: additional insights into hypertension pathogenesis. 
  • Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. 
  • Genetic dissection of interspecific differences in yeast thermotolerance. 
  • Genetic epidemiology of the susceptibility to leprosy. 
  • Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation. 
  • Genetic heterogeneity in hereditary haemorrhagic telangiectasia. 
  • Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype. 
  • Genetic heterogeneity of gingival fibromatosis on chromosome 2p. 
  • Genetic linkage analysis of complex genetic traits by using affected sibling pairs. 
  • Genetic linkage analysis of nerve growth factor (beta) in familial Alzheimer's disease. 
  • Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I. 
  • Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. 
  • Genetic linkage studies in Alzheimer's disease families. 
  • Genetic linkage studies in Huntington disease. 
  • Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. 
  • Genetic mapping in hypertension. 
  • Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat. 
  • Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. 
  • Genetic mapping of the beta-arrestin 1 and 2 genes on mouse chromosomes 7 and 11 respectively. 
  • Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease. 
  • Genetic structure and DNA sequences at junctions involved in the rearrangements of Bacillus subtilis strains carrying the trpE26 mutation. 
  • Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism. 
  • Genetic studies in neural tube defects. NTD Collaborative Group. 
  • Genetic susceptibility to Alzheimer disease. 
  • Genetic variants in nucleotide excision repair pathway predict survival of esophageal squamous cell cancer patients receiving platinum-based chemotherapy. 
  • Genetically determined P2X7 receptor pore formation regulates variability in chronic pain sensitivity. 
  • Genetics of coronary heart disease: current knowledge and research principles. 
  • Genetics of osteoarthritis. 
  • Genetics of parkin-linked disease. 
  • Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses. 
  • Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family. 
  • Genome-wide linkage analysis of carotid artery traits in exceptionally long-lived families. 
  • Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family. 
  • Genome-wide linkage of 77 families from the African American Hereditary Prostate Cancer study (AAHPC). 
  • Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis. 
  • Genome-wide linkage scan for prostate cancer aggressiveness loci using families from the University of Michigan Prostate Cancer Genetics Project. 
  • Genome-wide linkage scan for prostate cancer susceptibility from the University of Michigan Prostate Cancer Genetics Project: suggestive evidence for linkage at 16q23. 
  • Genome-wide linkage scan for prostate cancer susceptibility genes in men with aggressive disease: significant evidence for linkage at chromosome 15q12. 
  • Genome-wide linkage scan in fuchs endothelial corneal dystrophy. 
  • Genome-wide scan for prostate cancer susceptibility genes using families from the University of Michigan prostate cancer genetics project finds evidence for linkage on chromosome 17 near BRCA1. 
  • Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra. 
  • Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage. 
  • Genomic mismatch scanning: a new approach to genetic linkage mapping. 
  • Genomic organization of the human T-cell antigen-receptor alpha/delta locus. 
  • Genomic predictors of the maximal O₂ uptake response to standardized exercise training programs. 
  • Germline mutations in HOXB13 and prostate-cancer risk. 
  • Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. 
  • Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration. 
  • Hereditary benign intraepithelial dyskeratosis: an evaluation of diagnostic cytology. 
  • 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. 
  • Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 
  • Heterogeneity in Paget disease of the bone. 
  • High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35. 
  • Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. 
  • Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus. 
  • Hypothesis: microtubule instability and paired helical filament formation in the Alzheimer disease brain are related to apolipoprotein E genotype. 
  • IMI - Myopia Genetics Report. 
  • 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 nonsense mutation at codon 128 of the Norrie's disease gene in a male infant. 
  • Identification of a novel locus on 2q for autosomal dominant high-grade myopia. 
  • 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 quantitative trait loci influencing wood specific gravity in an outbred pedigree of loblolly pine. 
  • Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. 
  • Identification of the MATa mating-type locus of Cryptococcus neoformans reveals a serotype A MATa strain thought to have been extinct. 
  • Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene. 
  • Immunogenetic studies in families of children with juvenile dermatomyositis. 
  • Immunologic control of the ascites form of murine adenocarcinoma 755. III. Efficacy of serum therapy is controlled by a single genetic locus. 
  • Increased efficiency of case-control association analysis by using allele-sharing and covariate information. 
  • Indirect evolution of hybrid lethality due to linkage with selected locus in Mimulus guttatus 
  • Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. 
  • Influence of combinations of human major histocompatibility complex genes on the course of HIV-1 infection. 
  • Influence of obesity-related risk factors in the aetiology of glioma. 
  • Inherited Predisposition to Prostate Cancer: From Gene Discovery to Clinical Impact. 
  • Inter-chromosomal level of genome organization and longevity-related phenotypes in humans. 
  • Interpreting analyses of continuous covariates in affected sibling pair linkage studies. 
  • Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype. 
  • Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study. 
  • Is local adaptation in Mimulus guttatus caused by trade-offs at individual loci? 
  • Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. 
  • Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. 
  • Large-scale genetic investigation reveals genetic liability to multiple complex traits influencing a higher risk of ADHD. 
  • Letter: Mutation in Duchenne muscular dystrophy. 
  • Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease. 
  • Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. 
  • 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 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 analysis of schizophrenia in African-American families. 
  • Linkage and association studies of discoidin domain receptor 1 (DDR1) single nucleotide polymorphisms (SNPs) in juvenile oligoarthritis. 
  • Linkage and association studies of single-nucleotide polymorphism-tagged tumor necrosis factor haplotypes in juvenile oligoarthritis. 
  • 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 mapping of the angiotensin AT2 receptor gene (Agtr2) to the mouse X chromosome. 
  • Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. 
  • Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17. 
  • Linkage of Parkinsonism and Alzheimer's disease with Lewy body pathology to chromosome 12. 
  • 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 gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1. 
  • Linkage of a gene for macular corneal dystrophy to chromosome 16. 
  • Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. 
  • Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers. 
  • Linkage of familial Wilms' tumor predisposition to chromosome 19 and a two-locus model for the etiology of familial tumors. 
  • Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. 
  • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. 
  • Linkage of familial essential tremor to chromosome 5q35. 
  • Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. 
  • Linkage of genes for laminin B1 and B2 subunits on chromosome 1 in mouse. 
  • Linkage of kdr-type resistance and the para-homologous sodium channel gene in German cockroaches (Blattella germanica). 
  • Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. 
  • Linkage of the CCR5 Delta 32 mutation with a functional polymorphism of CD45RA. 
  • Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group. 
  • Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities. 
  • Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. 
  • Linkage studies in familial Alzheimer's disease. 
  • Linkage studies in peripheral neurofibromatosis. 
  • Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14! 
  • Linkage studies of late-onset familial Alzheimer's disease. 
  • Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause. 
  • Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2. 
  • Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. 
  • Localization of cloned unique DNA to three different regions of chromosome 19: screen for linkage probes for myotonic dystrophy. 
  • Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. 
  • Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. 
  • Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. 
  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 
  • Mapping of psoriasis to 17q terminus. 
  • Mapping of within-species segregation distortion in Drosophila persimilis and hybrid sterility between D. persimilis and D. pseudoobscura. 
  • Mapping strategies for multiple linked markers. 
  • Meiotic mutants that cause a polar decrease in recombination on the X chromosome in Caenorhabditis elegans. 
  • Meta-analysis of genome scans of age-related macular degeneration. 
  • 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. 
  • 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. 
  • Mild cystic fibrosis in a consanguineous family. 
  • Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype. 
  • Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. 
  • Mixed lymphocyte responses in a four-generation C2 deficiency family. 
  • Modifier locus on mouse chromosome 3 for renal vascular pathology in AT1A receptor-deficiency. 
  • Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion. 
  • Molecular composition of an antigen-specific, Ly-1 T suppressor inducer factor. One molecule binds antigen and is I-J-; another is I-J+, does not bind antigen, and imparts an Igh-variable region-linked restriction. 
  • Molecular genetics of yeast. 
  • Multiple susceptibility loci for multiple sclerosis. 
  • Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency. 
  • Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. 
  • Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. 
  • Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development. 
  • Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. 
  • Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). 
  • Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. 
  • Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. 
  • Myopia genetics: a review of current research and emerging trends. 
  • Myotonic dystrophy: update on progress to define the gene. 
  • Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. 
  • Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke. 
  • Near-Absent Levels Of Segregational Variation Suggest Limited Opportunities For The introduction of genetic variation via homeologous chromosome pairing In synthetic neoallotetraploid Mimulus. 
  • Neisseria meningitidis bacteremia in association with deficiency of the sixth component of complement. 
  • New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. 
  • No association between the HLA-A2 allele and Alzheimer disease. 
  • No genetic effect of alpha1-antichymotrypsin in Alzheimer disease. 
  • Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets. 
  • North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis. 
  • North Carolina macular dystrophy is assigned to chromosome 6. 
  • Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 
  • Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. 
  • On the evolution of genetic incompatibility systems. VI. A three-locus modifier model for the origin of gametophytic self-incompatibility. 
  • On the origin of meiotic reproduction: a genetic modifier model. 
  • Optical cross-sectional imaging of the macula with the retinal thickness analyzer in X-linked retinoschisis. 
  • Ordered subset analysis for case-control studies. 
  • Ordered subset analysis in genetic linkage mapping of complex traits. 
  • Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. 
  • Ordered-subset analysis (OSA) for family-based association mapping of complex traits. 
  • Ordered-subset analysis of savant skills in autism for 15q11-q13. 
  • PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. 
  • Pars planitis: clinical features and class II HLA associations. 
  • Parsing the genetic heterogeneity of chromosome 12q susceptibility genes for Alzheimer disease by family-based association analysis. 
  • Patients with chronic granulomatous disease have a reduced peripheral blood memory B cell compartment. 
  • Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. 
  • Pedigree generation for analysis of genetic linkage and association. 
  • Pedigree selection and information content. 
  • Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. 
  • Physical and genetic linkage of the genes encoding Ly-9 and CD48 on mouse and human chromosomes 1. 
  • Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. 
  • Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs. 
  • Preliminary evidence of linkage of salt sensitivity in black Americans at the beta 2-adrenergic receptor locus. 
  • Premature myocardial infarction novel susceptibility locus on chromosome 1P34-36 identified by genomewide linkage analysis. 
  • Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency. 
  • Prenatal test for X-linked severe combined immunodeficiency by analysis of maternal X-chromosome inactivation and linkage analysis. 
  • Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies. 
  • Principal components of heritability from neurocognitive domains differ between families with schizophrenia and control subjects. 
  • Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma. 
  • Prohibitin mutations are uncommon in prostate cancer families linked to chromosome 17q. 
  • Project among African-Americans to explore risks for schizophrenia (PAARTNERS): recruitment and assessment methods. 
  • Prostate cancer susceptibility locus on chromosome 1q: a confirmatory study. 
  • Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. 
  • Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease. 
  • Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study. 
  • Quantitative trait locus mapping of human blood pressure to a genetic region at or near the lipoprotein lipase gene locus on chromosome 8p22. 
  • RFLPs for linkage analysis in families with glycogen storage disease type III. 
  • Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish. 
  • Recombinant DNA strategies in genetic neurological diseases. 
  • Recombination and the divergence of hybridizing species. 
  • Recombination modulates how selection affects linked sites in Drosophila. 
  • Reduced penetrance in a large Caucasian pedigree with Stickler syndrome. 
  • 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. 
  • Refinement of 2q and 7p loci in a large multiplex NTD family. 
  • Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. 
  • Refining phenotype characterization in genetic linkage studies of schizophrenia. 
  • Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium. 
  • Regulatory genes linked to the albino locus in the mouse confer competence for inducible expression on the structural gene encoding serine dehydratase. 
  • Repeated measures of intraocular pressure result in higher heritability and greater power in genetic linkage studies. 
  • Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 
  • Replication of the recessive STBMS1 locus but with dominant inheritance. 
  • Report and abstracts of the 4th International Workshop on Chromosome 9. Williamsburg, Virginia, USA, April 23-25, 1995. 
  • Report and abstracts of the sixth international workshop on human chromosome 1 mapping 2000. Iowa City, Iowa, USA. 30 September-3 October 2000. 
  • Report of the committee on the genetic constitution of chromosome 19. 
  • Report of the committee on the genetic constitution of chromosomes 18 and 19. 
  • SMRT Sequencing for Parallel Analysis of Multiple Targets and Accurate SNP Phasing. 
  • SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach. 
  • SNPselector: a web tool for selecting SNPs for genetic association studies. 
  • Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. 
  • Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families. 
  • Selective mapping: a strategy for optimizing the construction of high-density linkage maps. 
  • Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility. 
  • Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level. 
  • Sequencing studies in human genetics: design and interpretation. 
  • Sequential elimination of major-effect contributors identifies additional quantitative trait loci conditioning high-temperature growth in yeast. 
  • Sequential sib-pair and association studies to detect genes in quantitative traits. 
  • Serum lipids in the GENECARD study of coronary artery disease identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q. 
  • Sib-pair linkage analysis in late onset Alzheimer's disease. 
  • Simple Mendelian inheritance of the repeating yeast ribosomal DNA genes. 
  • Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. 
  • Social, behavioral, and genetic linkages from adolescence into adulthood. 
  • Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. 
  • Sporadic, Global Linkage Disequilibrium Between Unlinked Segregating Sites. 
  • Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser. 
  • Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates. 
  • Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. 
  • Structural organization of the human MS4A gene cluster on Chromosome 11q12. 
  • Study design for genetic analysis in the Jackson Heart Study. 
  • Successful pyrimethamine-sulfadiazine therapy of pneumocystis pneumonia in infants with X-linked immunodeficiency with hyper-IgM. 
  • Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter. 
  • Symptomatic giardiasis in three patients with X-linked agammaglobulinemia. 
  • Systematic gene mapping in man: data management considerations. 
  • Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene Consortium. 
  • The DNA sequence of the human X chromosome. 
  • The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci. 
  • The HOX-5 and surfeit gene clusters are linked in the proximal portion of mouse chromosome 2. 
  • The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. 
  • The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. 
  • The exon A (C77G) mutation is a common cause of abnormal CD45 splicing in humans. 
  • The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. 
  • The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene. 
  • The gene that encodes the human CD20 (B1) differentiation antigen is located on chromosome 11 near the t(11;14)(q13;q32) translocation site. 
  • The genetics of primary open-angle glaucoma: a review. 
  • The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3. 
  • The human genes for S-adenosylhomocysteine hydrolase and adenosine deaminase are syntenic on chromosome 20. 
  • The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene. 
  • The immune response to staphylococcal nuclease: a probe of cellular and humoral antigen-specific receptors. 
  • The influence of Yaa on anti-DNA responses of B6-lpr mice. 
  • The molecular basis of quantitative genetic variation in central and secondary metabolism in Arabidopsis. 
  • The molecular genetics of hereditary hemorrhagic telangiectasia. 
  • The multiple causes of human SCID. 
  • The polymorphic exon 1 androgen receptor CAG repeat in men with a potential inherited predisposition to prostate cancer. 
  • The sex-linked recessive lethal test for mutagenesis in Drosophila melanogaster. A report of the U.S. Environmental Protection Agency Gene-Tox Program. 
  • The structure and function of gamma c-dependent cytokines and receptors: regulation of T lymphocyte development and homeostasis. 
  • The ubiquilin 1 gene and Alzheimer's disease. 
  • Theoretical and practical advances in genome halving. 
  • Three tightly linked genes encoding human type I keratins: conservation of sequence in the 5'-untranslated leader and 5'-upstream regions of coexpressed keratin genes. 
  • Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19. 
  • Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. 
  • Transmission ratio distortion in intraspecific hybrids of Mimulus guttatus: implications for genomic divergence. 
  • Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markers. 
  • Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 
  • 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. 
  • Update on psychiatric genetics. 
  • 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. 
  • Variability in B cell maturation and differentiation in X-linked agammaglobulinemia. 
  • Variants in angiopoietin-2 (ANGPT2) contribute to variation in nocturnal oxyhaemoglobin saturation level. 
  • Variation in recombination rate may bias human genetic disease mapping studies. 
  • Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. 
  • Whole genomewide linkage screen for neural tube defects reveals regions of interest on chromosomes 7 and 10. 
  • Why is female sex an independent predictor of shortened overall survival after proton/photon radiation therapy for skull base chordomas? 
  • X-linked high myopia associated with cone dysfunction. 
  • X-linked hypophosphatemic rickets without "rickets". 
  • X-linked lissencephaly in an Indian family. 
  • X-linked malformations of neuronal migration. 
  • X-linked neuropathy: gene localization with DNA probes. 
  • Yeast ribosomal DNA genes are located on chromosome XII. 
  • ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. 
• 

  Keywords of People

  • Bennett, Vann, George Barth Geller Distinguished Professor of Molecular Biology, Duke Cancer Institute
  • Berchuck, Andrew, James M. Ingram Distinguished Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Ferreira, Paulo Alexandre, Associate Professor in Ophthalmology, Pathology
  • Gunn, Michael Dee, Professor of Medicine, Integrative Immunobiology
  • Hartemink, Alexander J., Professor in the Department of Computer Science, Biology
  • Hogan, Brigid L. M., Research Professor of Cell Biology, Cell Biology
  • Jowell, Paul Simon, Professor of Medicine, Medicine, Gastroenterology
  • Krangel, Michael S., George Barth Geller Distinguished Professor of Immunology, Integrative Immunobiology
  • Li, Yi-Ju, Professor of Biostatistics & Bioinformatics, Biostatistics & Bioinformatics
  • Liu, Yutao, Adjunct Assistant Professor in the Department of Medicine, Medicine, Medical Genetics
  • Mitchell-Olds, Thomas, Newman Ivey White Distinguished Professor of Biology, Biology
  • Shinohara, Mari L., Professor of Integrative Immunobiology, Cell Biology