Chromosome Mapping

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  Subject Areas on Research

  • "Large cell/anaplastic" medulloblastomas: a Pediatric Oncology Group Study. 
  • 3D phenotyping and quantitative trait locus mapping identify core regions of the rice genome controlling root architecture. 
  • A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. 
  • A 90 kb DNA deletion associated with neurofibromatosis type 1. 
  • A SIMPLE Pipeline for Mapping Point Mutations. 
  • A Segregating Inversion Generates Fitness Variation in Yellow Monkeyflower (Mimulus guttatus). 
  • A candidate taste receptor gene near a sweet taste locus. 
  • A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region. 
  • A cis-acting sequence homologous to the yeast filamentation and invasion response element regulates expression of a pectinase gene from the bean pathogen Colletotrichum lindemuthianum. 
  • A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. 
  • A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. 
  • A copy number variation morbidity map of developmental delay. 
  • 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 family of candidate taste receptors in human and mouse. 
  • A fine-structure map of spontaneous mitotic crossovers in the yeast Saccharomyces cerevisiae. 
  • A gene controlling variation in Arabidopsis glucosinolate composition is part of the methionine chain elongation pathway. 
  • A gene expression map of the Arabidopsis root. 
  • A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34. 
  • A gene map of the human genome. 
  • A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. 
  • A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. 
  • 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 genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function. 
  • A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk. 
  • A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. 
  • 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 genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. 
  • A genomics approach to improve the analysis and design of strain selections. 
  • A herpes simplex virus 1 integration site in the mouse genome defined by somatic cell genetic analysis. 
  • 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 protein related to yeast Cdc6p. 
  • A large sample of finnish diabetic sib-pairs reveals no evidence for a non-insulin-dependent diabetes mellitus susceptibility locus at 2qter. 
  • A linkage map of mouse chromosome 8: further definition of homologous linkage relationships between mouse chromosome 8 and human chromosomes 8, 16, and 19. 
  • A linkage map reveals a complex basis for segregation distortion in an interpopulation cross in the moss Ceratodon purpureus. 
  • A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26. 
  • A locus mapping to mouse chromosome 7 determines infarct volume in a mouse model of ischemic stroke. 
  • A manually curated functional annotation of the human X chromosome. 
  • A map of 75 human ribosomal protein genes. 
  • A member of a family of sulfate-activating enzymes causes murine brachymorphism. 
  • A molecular genetic linkage map of mouse chromosome 7. 
  • A multigene family encoding a diverse array of putative pheromone receptors in mammals. 
  • A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. 
  • A new phase in the study of human inherited eye diseases. 
  • A new probe for the diagnosis of myotonic muscular dystrophy. 
  • A novel 2-oxoacid-dependent dioxygenase involved in the formation of the goiterogenic 2-hydroxybut-3-enyl glucosinolate and generalist insect resistance in Arabidopsis,. 
  • A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3. 
  • A novel androgen-regulated gene, PMEPA1, located on chromosome 20q13 exhibits high level expression in prostate. 
  • A novel basal promoter element is required for expression of the rat tyrosine hydroxylase gene. 
  • A novel genetic locus modulates infarct volume independently of the extent of collateral circulation. 
  • A novel long and unstable CAG/CTG trinucleotide repeat on chromosome 17q. 
  • A polymorphic cDNA probe on chromosome 17q11.2 located within the NF1 gene [D17S376]. 
  • A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. 
  • A proximal mouse chromosome 9 linkage map that further defines linkage groups homologous with segments of human chromosomes 11, 15, and 19. 
  • A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene. 
  • A second locus for familial high myopia maps to chromosome 12q. 
  • A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. 
  • A second-generation genomic screen for multiple sclerosis. 
  • A simple genetic incompatibility causes hybrid male sterility in mimulus. 
  • 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. 
  • ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling. 
  • Abnormalities in S-adenosylhomocysteine hydrolysis, ATP catabolism, and lymphoid differentiation in adenosine deaminase deficiency. 
  • Accounting for linkage in family-based tests of association with missing parental genotypes. 
  • Activation of an EDS1-mediated R-gene pathway in the snc1 mutant leads to constitutive, NPR1-independent pathogen resistance. 
  • Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity. 
  • Adult-onset primary open angle glaucoma does not localize to chromosome 2cen-q13 in North American families. 
  • Advancing the functional utility of PAR-CLIP by quantifying background binding to mRNAs and lncRNAs. 
  • Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations. 
  • African Ancestry Analysis and Admixture Genetic Mapping for Proliferative Diabetic Retinopathy in African Americans. 
  • Age at onset in two common neurodegenerative diseases is genetically controlled. 
  • Allelotype analysis of uterine leiomyoma: localization of a potential tumor suppressor gene to a 4-cM region of chromosome 7q. 
  • Alpha-amanitin-resistant D. melanogaster with an altered RNA polymerase II. 
  • An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15. 
  • An SSLP marker-anchored BAC framework map of the mouse genome. 
  • An STS-based map of the human genome. 
  • An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 
  • An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder. 
  • An autosomal genomic screen for dementia in an extended Amish family. 
  • An evaluation of the draft human genome sequence. 
  • An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease. 
  • An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome. 
  • An integrated YAC map of the human X chromosome. 
  • An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. 
  • An introgression analysis of quantitative trait loci that contribute to a morphological difference between Drosophila simulans and D. mauritiana. 
  • An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy. 
  • Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. 
  • Analysis of methylation-sensitive transcriptome identifies GADD45a as a frequently methylated gene in breast cancer. 
  • Angiotensin converting enzyme and genetic hypertension: cloning of rat cDNAs and characterization of the enzyme. 
  • Applications of a rat multiple tissue gene expression data set. 
  • Arabidopsis SNI1 and RAD51D regulate both gene transcription and DNA recombination during the defense response. 
  • Are sequence family variants useful for identifying deletions in the human Y chromosome? 
  • Armadillo coactivates transcription driven by the product of the Drosophila segment polarity gene dTCF. 
  • Assignment of human protein phosphatase 2A regulatory subunit genes b56alpha, b56beta, b56gamma, b56delta, and b56epsilon (PPP2R5A-PPP2R5E), highly expressed in muscle and brain, to chromosome regions 1q41, 11q12, 3p21, 6p21.1, and 7p11.2 --> p12. 
  • Assignment of human transforming growth factor-beta type I and type III receptor genes (TGFBR1 and TGFBR3) to 9q33-q34 and 1p32-p33, respectively. 
  • Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD. 
  • Assignment of the human beta-adducin gene (ADD2) to 2p13-p14 by in situ hybridization. 
  • Assignment of the human glycogen debrancher gene to chromosome 1p21. 
  • Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia. 
  • Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2. 
  • Attention deficit/hyperactivity disorder children with a 7-repeat allele of the dopamine receptor D4 gene have extreme behavior but normal performance on critical neuropsychological tests of attention. 
  • Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig. 
  • AutoCSA, an algorithm for high throughput DNA sequence variant detection in cancer genomes. 
  • 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. 
  • Bacterial artificial chromosome cloning and mapping of a 630-kb human extrachromosomal structure. 
  • Beyond QTL cloning. 
  • Biogeographic distribution of polyploidy and B chromosomes in the apomictic Boechera holboellii complex. 
  • Biology of small cell lung cancer. 
  • Biphenotypic sarcoma with characteristics of both a Ewing sarcoma and a desmoplastic small round cell tumor. 
  • Blepharophimosis syndrome is linked to chromosome 3q. 
  • Breakthroughs in the understanding and therapy of primary immunodeficiency. 
  • Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer. 
  • CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 
  • CD19 maps to a region of conservation between human chromosome 16 and mouse chromosome 7. 
  • CD22, a B lymphocyte-specific adhesion molecule that regulates antigen receptor signaling. 
  • CDK12 is a transcription elongation-associated CTD kinase, the metazoan ortholog of yeast Ctk1. 
  • CHST1 and CHST2 sulfotransferases expressed by human vascular endothelial cells: cDNA cloning, expression, and chromosomal localization. 
  • COBRA encodes a putative GPI-anchored protein, which is polarly localized and necessary for oriented cell expansion in Arabidopsis. 
  • CRISPR-Cas9 epigenome editing enables high-throughput screening for functional regulatory elements in the human genome. 
  • Candidate genes on murine chromosome 8 are associated with susceptibility to Staphylococcus aureus infection in mice and are involved with Staphylococcus aureus septicemia in humans. 
  • Cell binding specificity of mouse R-cadherin and chromosomal mapping of the gene. 
  • Characterization of a cDNA clone encoding human filaggrin and localization of the gene to chromosome region 1q21. 
  • Characterization of a gene trap insertion into a novel gene, cordon-bleu, expressed in axial structures of the gastrulating mouse embryo. 
  • Characterization of an atypical member of the Na+/Cl(-)-dependent transporter family: chromosomal localization and distribution in GABAergic and glutamatergic neurons in the rat brain. 
  • Characterization of frequently deleted 6q locus in prostate cancer. 
  • Characterization of gene expression in human trabecular meshwork using single-pass sequencing of 1060 clones. 
  • Characterization of human brain cDNA encoding the general isoform of beta-spectrin. 
  • Characterization of the epidermal growth factor receptor in human glioma cell lines and xenografts. 
  • Chorea-acanthocytosis: genetic linkage to chromosome 9q21. 
  • Chromosomal assignments of the genes coding for human types II, III, and IV collagen: a dispersed gene family. 
  • Chromosomal distribution of the human cardiovascular transcriptome. 
  • Chromosomal localization of gene for human glutamate receptor subunit-7. 
  • Chromosomal localization of human glutamate receptor genes. 
  • Chromosomal localization of the ankyrinG gene (ANK3/Ank3) to human 10q21 and mouse 10. 
  • Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis. 
  • Chromosomal organization of adrenergic receptor genes. 
  • Chromosomal translocations in yeast induced by low levels of DNA polymerase a model for chromosome fragile sites. 
  • Chromosome 17q22-q24 and multiple sclerosis genetic susceptibility. American-French Multiple Sclerosis Genetic Group. 
  • Chromosome mapping of human cell surface molecules: monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11. 
  • Chronic oxidative DNA damage due to DNA repair defects causes chromosomal instability in Saccharomyces cerevisiae. 
  • Circadian clock-controlled genes isolated from Neurospora crassa are late night- to early morning-specific. 
  • Cloning and structural analysis of the human c-kit gene. 
  • Cloning of a complementary DNA encoding a new mouse B lymphocyte differentiation antigen, homologous to the human B1 (CD20) antigen, and localization of the gene to chromosome 19. 
  • Cloning of the human glycine transporter type 1: molecular and pharmacological characterization of novel isoform variants and chromosomal localization of the gene in the human and mouse genomes. 
  • Cloning, expression, and chromosomal localization of beta-adrenergic receptor kinase 2. A new member of the receptor kinase family. 
  • Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand. 
  • Cloning, molecular characterization, and chromosomal assignment of a gene encoding a second D1 dopamine receptor subtype: differential expression pattern in rat brain compared with the D1A receptor. 
  • Cloning, pharmacological characterization, and genomic localization of the human creatine transporter. 
  • 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. I. Mutation-selection balance at one and two loci. 
  • Coevolution of self-fertilization and inbreeding depression. II. Symmetric overdominance in viability. 
  • Combining location and expression data for principled discovery of genetic regulatory network models. 
  • Community engagement and informed consent in the International HapMap project. 
  • Comparative genetic mapping in Boechera stricta, a close relative of Arabidopsis. 
  • Comparative linkage maps suggest that fission, not polyploidy, underlies near-doubling of chromosome number within monkeyflowers (Mimulus; Phrymaceae). 
  • Comparing reference-based RNA-Seq mapping methods for non-human primate data. 
  • Comparing the linkage maps of the close relatives Arabidopsis lyrata and A. thaliana. 
  • Complete genomic screen for disease susceptibility loci in nuclear families. 
  • Complex evolutionary trajectories of sex chromosomes across bird taxa. 
  • Complex genetic interactions in a quantitative trait locus. 
  • Computational and experimental identification of novel human imprinted genes. 
  • Conditional root expansion mutants of Arabidopsis. 
  • 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. 
  • Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 
  • Conservation of dishevelled structure and function between flies and mice: isolation and characterization of Dvl2. 
  • Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1. 
  • 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. 
  • Cross-species DNA copy number analyses identifies multiple 1q21-q23 subtype-specific driver genes for breast cancer. 
  • DIG--a system for gene annotation and functional discovery. 
  • DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis. 
  • DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). 
  • DNase-seq: a high-resolution technique for mapping active gene regulatory elements across the genome from mammalian cells. 
  • Data and animal management software for large-scale phenotype screening. 
  • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. 
  • Deletion of p16 and p15 genes in brain tumors. 
  • Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. 
  • Detailed molecular analysis of 1p36 in neuroblastoma. 
  • Detectable clonal mosaicism from birth to old age and its relationship to cancer. 
  • Detection of frequent allelic loss on proximal chromosome 17q in sporadic breast carcinoma using microsatellite length polymorphisms. 
  • Determinants of CD4 independence for a human immunodeficiency virus type 1 variant map outside regions required for coreceptor specificity. 
  • 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. 
  • Developmental and transformation-sensitive expression of the Sparc gene on mouse chromosome 11. 
  • Developmental regulation of mouse SPARC (osteonectin) gene expression. 
  • Diet-induced changes in uncoupling proteins in obesity-prone and obesity-resistant strains of mice. 
  • Differences in crossover frequency and distribution among three sibling species of Drosophila. 
  • Differential gene expression patterns in HER2/neu-positive and -negative breast cancer cell lines and tissues. 
  • Diploid apomicts of the Boechera holboellii complex display large-scale chromosome substitutions and aberrant chromosomes. 
  • Direct allelic variation scanning of the yeast genome. 
  • Dissecting the architecture of a quantitative trait locus in yeast. 
  • Dissecting the genetics of human high myopia: a molecular biologic approach. 
  • Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction. 
  • Distal nephron renal tumors: microsatellite allelotype. 
  • Distinct regions of allelic loss on chromosome 4 in human primary bladder carcinoma. 
  • Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis. 
  • Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. 
  • Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway? 
  • Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. 
  • Embryonic expression of Lim-1, the mouse homolog of Xenopus Xlim-1, suggests a role in lateral mesoderm differentiation and neurogenesis. 
  • Emergence of the keratinocyte growth factor multigene family during the great ape radiation. 
  • Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping. 
  • Equine infectious anemia virus resists the antiretroviral activity of equine APOBEC3 proteins through a packaging-independent mechanism. 
  • Essential light chain of Drosophila nonmuscle myosin II. 
  • Establishment of a high-efficiency SNP-based framework marker set for Arabidopsis. 
  • European Collaborative Project on Affective Disorders: interactions between genetic and psychosocial vulnerability factors. 
  • Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations. 
  • 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. 
  • Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. 
  • Evidence that the ribosomal DNA genes of yeast are not on chromosome I. 
  • Evolutionary design on a budget: robustness and optimality of bacteriophage T7. 
  • Excitatory amino acid receptors and epilepsy. 
  • Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. 
  • Expansions and contractions of the genetic map relative to the physical map of yeast chromosome III. 
  • Expression analysis and mapping of the mouse and human transcriptional regulator CA150. 
  • Expression and regulation of alpha 1-adrenergic receptors in human tissues. 
  • False positive rates in a genomic screen for complex quantitative traits. 
  • Familial chordoma, a tumor of notochordal remnants, is linked to chromosome 7q33. 
  • Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2. 
  • Faster algorithms for optimal multiple sequence alignment based on pairwise comparisons. 
  • 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 a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. 
  • Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5. 
  • Fine mapping of a putative rd cDNA and its co-segregation with rd expression. 
  • Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. 
  • Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity. 
  • Fine mapping, gene content, comparative sequencing, and expression analyses support Ctla4 and Nramp1 as candidates for Idd5.1 and Idd5.2 in the nonobese diabetic mouse. 
  • Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. 
  • Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans. 
  • Fine-structure mapping of meiosis-specific double-strand DNA breaks at a recombination hotspot associated with an insertion of telomeric sequences upstream of the HIS4 locus in yeast. 
  • Five anthocyanin polymorphisms are associated with an R2R3-MYB cluster in Mimulus guttatus (Phrymaceae). 
  • Flanking markers define the X-linked hypophosphatemic rickets gene locus. 
  • Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). 
  • Fluorescence in situ hybridization analysis of keratinocyte growth factor gene amplification and dispersion in evolution of great apes and humans. 
  • Frequency of homozygous deletion at p16/CDKN2 in primary human tumours. 
  • From the Cover: mitotic gene conversion events induced in G1-synchronized yeast cells by gamma rays are similar to spontaneous conversion events. 
  • Functional divergence in tandemly duplicated Arabidopsis thaliana trypsin inhibitor genes. 
  • Fungal mating-type loci. 
  • Further exclusion of FSHD1B from the telomeric region of 10q. 
  • 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 identification in Alzheimer's disease. 
  • Gene/longevity association studies at four autosomal loci (REN, THO, PARP, SOD2). 
  • Generalized admixture mapping for complex traits. 
  • Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes. 
  • Genetic Analysis of Complex Traits in Saccharomyces cerevisiae. 
  • 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 complex diseases. 
  • Genetic analysis of susceptibility to Chlamydia trachomatis in mouse. 
  • Genetic and biochemical characterization of mutants at an RNA polymerase II locus in D. melanogaster. 
  • Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. 
  • Genetic and physiological basis of adaptive salt tolerance divergence between coastal and inland Mimulus guttatus. 
  • Genetic architecture of human pain perception. 
  • Genetic complexity and Parkinson's disease. Deane Laboratory Parkinson Disease Research Group. 
  • Genetic control of cuticle formation during embryonic development of Drosophila melanogaster. 
  • Genetic control of the immune response to staphylococcal nuclease. IX. Recombination between genes determining BALB/c antinuclease idiotypes and the heavy chain allotype locus. 
  • Genetic control of the immune response to staphylococcal nuclease. VIII. Mapping of genes for antibodies to different antigenic regions of nuclease. 
  • Genetic determinants of retinal vascular caliber: additional insights into hypertension pathogenesis. 
  • Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls. 
  • Genetic evidence that the meiotic recombination hotspot at the HIS4 locus of Saccharomyces cerevisiae does not represent a site for a symmetrically processed double-strand break. 
  • Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. 
  • Genetic instability of microsatellites in endometrial carcinoma. 
  • Genetic linkage of hyper-IgE syndrome to chromosome 4. 
  • 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 Ty elements in Saccharomyces cerevisiae. 
  • Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat. 
  • 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 mapping of the beta-arrestin 1 and 2 genes on mouse chromosomes 7 and 11 respectively. 
  • Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy. 
  • Genetic studies in autistic disorder and chromosome 15. 
  • Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 
  • Genetic variation at a single locus and age of onset for Alzheimer's disease. 
  • Genetics of coronary heart disease: current understanding and future prospects. 
  • Genetics of osteoarthritis. 
  • Genetics. Origin of species in overdrive. 
  • Genome mapping by fluorescent fingerprinting. 
  • Genome maps 7. The human transcript map. Wall chart. 
  • Genome-Wide Association Study with Targeted and Non-targeted NMR Metabolomics Identifies 15 Novel Loci of Urinary Human Metabolic Individuality. 
  • Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types. 
  • Genome-wide and fine-resolution association analysis of malaria in West Africa. 
  • Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese. 
  • Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. 
  • Genome-wide expression profile of human trabecular meshwork cultured cells, nonglaucomatous and primary open angle glaucoma tissue. 
  • Genome-wide high-density SNP linkage search for glioma susceptibility loci: results from the Gliogene Consortium. 
  • Genome-wide high-resolution mapping of UV-induced mitotic recombination events in Saccharomyces cerevisiae. 
  • Genome-wide high-resolution mapping of chromosome fragile sites in Saccharomyces cerevisiae. 
  • Genome-wide identity-by-descent sharing among CEPH siblings. 
  • Genome-wide linkage analysis for human longevity: Genetics of Healthy Aging Study. 
  • Genome-wide linkage screen in familial Parkinson disease identifies loci on chromosomes 3 and 18. 
  • Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). 
  • Genome-wide scan for adult onset primary open angle glaucoma. 
  • Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL). 
  • Genomewide search for type 2 diabetes susceptibility genes in four American populations. 
  • Genomic analysis of human lung fibroblasts exposed to vanadium pentoxide to identify candidate genes for occupational bronchitis. 
  • Genomic characterization of large heterochromatic gaps in the human genome assembly. 
  • Genomic mismatch scanning: a new approach to genetic linkage mapping. 
  • Genomic organization and cloning of the human homologue of murine Sipa-1. 
  • Genomic organization of adrenergic and serotonin receptors in the mouse: linkage mapping of sequence-related genes provides a method for examining mammalian chromosome evolution. 
  • Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene. 
  • Genomic screen and follow-up analysis for autistic disorder. 
  • Genomic structure and chromosomal localization of the novel ETS factor, PE-2 (ERF). 
  • Genomic sweeping for hypermethylated genes. 
  • Genomics and genetics of human and primate y chromosomes. 
  • Global mapping of meiotic recombination hotspots and coldspots in the yeast Saccharomyces cerevisiae. 
  • Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. 
  • Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion. 
  • Glycogen synthase: a putative locus for diet-induced hyperglycemia. 
  • HLA antigens in primary immunodeficiency diseases. 
  • Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene. 
  • Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group. 
  • High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2. 
  • High-density mapping of chromosomal arm 1q in renal collecting duct carcinoma: region of minimal deletion at 1q32.1-32.2. 
  • High-frequency S-layer protein variation in Campylobacter fetus revealed by sapA mutagenesis. 
  • High-frequency meiotic gene conversion between repeated genes on nonhomologous chromosomes in yeast. 
  • High-resolution genome-wide analysis of irradiated (UV and γ-rays) diploid yeast cells reveals a high frequency of genomic loss of heterozygosity (LOH) events. 
  • High-resolution mapping and characterization of open chromatin across the genome. 
  • High-resolution mapping of open chromatin in the rice genome. 
  • High-resolution mapping of spontaneous mitotic recombination hotspots on the 1.1 Mb arm of yeast chromosome IV. 
  • Histocompatibility testing and mixed lymphocyte culture responses in chimpanzee families. 
  • Human GluR6 kainate receptor (GRIK2): molecular cloning, expression, polymorphism, and chromosomal assignment. 
  • Human and mouse alpha-synuclein genes: comparative genomic sequence analysis and identification of a novel gene regulatory element. 
  • Human brain glycogen phosphorylase. Cloning, sequence analysis, chromosomal mapping, tissue expression, and comparison with the human liver and muscle isozymes. 
  • Human calcium-calmodulin dependent protein kinase I: cDNA cloning, domain structure and activation by phosphorylation at threonine-177 by calcium-calmodulin dependent protein kinase I kinase. 
  • Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation. 
  • Human leukocyte antigen matching and fetal loss: results of a 10 year prospective study. 
  • Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers. 
  • Human type 2 angiotensin II receptor gene: cloned, mapped to the X chromosome, and its mRNA is expressed in the human lung. 
  • Hypertension and albuminuria in chronic kidney disease mapped to a mouse chromosome 11 locus. 
  • Identification and characterization of cell type-specific and ubiquitous chromatin regulatory structures in the human genome. 
  • Identification and cloning of a negative regulator of systemic acquired resistance, SNI1, through a screen for suppressors of npr1-1. 
  • Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 (PRMT1) gene. 
  • Identification and utilization of arbitrary correlations in models of recombination signal sequences. 
  • Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 
  • Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 
  • Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7. 
  • Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. 
  • Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 
  • Identification of a novel GTPase, the inducibly expressed GTPase, that accumulates in response to interferon gamma. 
  • Identification of a novel locus on 2q for autosomal dominant high-grade myopia. 
  • Identification of a structurally distinct CD101 molecule encoded in the 950-kb Idd10 region of NOD mice. 
  • Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations. 
  • 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 independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. 
  • Identification of major quantitative trait loci underlying floral pollination syndrome divergence in Penstemon. 
  • Identification of novel genes in late-onset Alzheimer's disease. 
  • Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. 
  • Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods. 
  • Identification of the breast cancer susceptibility gene BRCA2. 
  • Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. 
  • Identification, expression, and chromosomal localization of ubiquitin conjugating enzyme 7 (UBE2G2), a human homologue of the Saccharomyces cerevisiae ubc7 gene. 
  • Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes. 
  • Immunologic control of the ascites form of murine adenocarcinoma 755. III. Efficacy of serum therapy is controlled by a single genetic locus. 
  • Impact of genetic polymorphisms on heart failure prognosis. 
  • In situ hybridization and translocation breakpoint mapping. I. Nonidentical 22q11 breakpoints for the t(9;22) of CML and the t(8;22) of Burkitt lymphoma. 
  • Independent ancient polyploidy events in the sister families Brassicaceae and Cleomaceae. 
  • Indirect evolution of hybrid lethality due to linkage with selected locus in Mimulus guttatus. 
  • Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. 
  • Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. 
  • Inherited deletion at Duchenne dystrophy locus in normal male. 
  • Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. 
  • Initial sequencing and analysis of the human genome. 
  • Initiation of replication at a mammalian chromosomal origin. 
  • Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma. 
  • Instability of rRNA operons in Bacillus subtilis. 
  • Interaction between genetic background and the mating-type locus in Cryptococcus neoformans virulence potential. 
  • Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. 
  • Interpretation of simultaneous linkage and family-based association tests in genome screens. 
  • Intersection tests for single marker QTL analysis can be more powerful than two marker QTL analysis. 
  • Interval mapping of viability loci causing heterosis in Arabidopsis. 
  • Investigation of the phenylethanolamine N-methyltransferase gene as a candidate gene for hypertension. 
  • Is there left-handed DNA at the ends of yeast chromosomes? 
  • Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes. 
  • Isolation and characterization of human casein kinase I epsilon (CKI), a novel member of the CKI gene family. 
  • Isolation and characterization of lambda transducing bacteriophages for the su1+ (supD minus) amber suppressor of Escherichia coli. 
  • Isolation and chromosomal localization of cDNAs encoding a novel human lymphocyte cell surface molecule, LAM-1. Homology with the mouse lymphocyte homing receptor and other human adhesion proteins. 
  • Isolation of a candidate cDNA for the gene causing retinal degeneration in the rd mouse. 
  • Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13. 
  • LIM homeobox gene-dependent expression of biogenic amine receptors in restricted regions of the C. elegans nervous system. 
  • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 
  • Lack of association between autism and SLC25A12. 
  • Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. 
  • Leaf shape evolution has a similar genetic architecture in three edaphic specialists within the Mimulus guttatus species complex. 
  • Letter by Gurbel et al regarding article, "Cytochrome 2C19*17 allelic variant, platelet aggregation, bleeding events, and stent thrombosis in clopidogrel-treated patients with coronary stent placement". 
  • Life after the screen: making sense of many P-values. 
  • Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. 
  • Linkage analysis in juvenile neuronal ceroid lipofuscinosis. 
  • Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease. 
  • Linkage analysis with gene-environment interaction: model illustration and performance of ordered subset analysis. 
  • Linkage and association with type 1 diabetes on chromosome 1q42. 
  • Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype. 
  • Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p 12.1. 
  • 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 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 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 genes for laminin B1 and B2 subunits on chromosome 1 in mouse. 
  • Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. 
  • Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. 
  • Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. 
  • Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14! 
  • Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines. 
  • Localisation of receptor interacting protein 140 (RIP140) within 100 kb of D21S13 on 21q11, a gene-poor region of the human genome. 
  • 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. 
  • Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16. 
  • Localization of the cDNA for an alpha 1-adrenergic receptor subtype (ADRA1D) to chromosome band 20p13. 
  • Localization of three genes expressed in retina on mouse chromosome 11. 
  • Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). 
  • Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia. 
  • Loss of heterozygosity at chromosome segment Xq25-26.1 in advanced human ovarian carcinomas. 
  • Mapping Drosophila genomic aberration breakpoints with comparative genome hybridization on microarrays. 
  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements. 
  • Mapping eQTL by leveraging multiple tissues and DNA methylation. 
  • Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. 
  • Mapping nucleosome positions using DNase-seq. 
  • Mapping of QTL for resistance against the crucifer specialist herbivore Pieris brassicae in a new Arabidopsis inbred line population, Da(1)-12 x Ei-2. 
  • Mapping of a novel SH3 domain protein and two proteins of unknown function to human chromosome 21. 
  • Mapping of ionomic traits in Mimulus guttatus reveals Mo and Cd QTLs that colocalize with MOT1 homologues. 
  • Mapping of rRNA genes with integrable plasmids in Bacillus subtilis. 
  • Mapping of the IRF8 gene identifies a 3'UTR variant associated with risk of chronic lymphocytic leukemia but not other common non-Hodgkin lymphoma subtypes. 
  • Mapping regulatory elements by DNaseI hypersensitivity chip (DNase-Chip). 
  • Mapping strategies for multiple linked markers. 
  • Mating-type locus of Cryptococcus neoformans: a step in the evolution of sex chromosomes. 
  • Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. 
  • Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. 
  • Meiotic chromosome segregation in triploid strains of Saccharomyces cerevisiae. 
  • Meiotic mapping of yeast ribosomal deoxyribonucleic acid on chromosome XII. 
  • Meiotic recombination hot spots and cold spots. 
  • 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. 
  • Mice with duplications and deletions at the Tme locus have altered MnSOD activity. 
  • MicroRNAs preferentially target the genes with high transcriptional regulation complexity. 
  • Microsatellite instability in yeast: dependence on repeat unit size and DNA mismatch repair genes. 
  • Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus. 
  • Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype. 
  • Model selection in binary trait locus mapping. 
  • Modifier genes and heart failure. 
  • Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. 
  • Molecular approaches to the spreading problem of drug resistant malaria. 
  • Molecular characterization of ribosomal genes on the Ybb- chromosome of Drosophila melanogaster. 
  • Molecular cloning and expression of the cDNA for the alpha 1A-adrenergic receptor. The gene for which is located on human chromosome 5. 
  • Molecular genetic and family studies in affective disorders: state of the art. 
  • Molecular genetics and genomics of heart failure. 
  • Molecular genetics of AMD and current animal models. 
  • Molecular mapping of functional domains of the leukocyte receptor for endothelium, LAM-1. 
  • Molecular pathogenesis of malignant gliomas. 
  • Molecular structure and flanking nucleotide sequences of the natural chicken ovomucoid gene. 
  • Molecular structure of the La and Ro autoantigens and their use in autoimmune diagnostics. 
  • MspI RFLP for microtubule associated protein-2 (MAP2). 
  • Multi-allelic major effect genes interact with minor effect QTLs to control adaptive color pattern variation in Heliconius erato. 
  • Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. 
  • Multilocus mapping of the X-linked hypophosphatemic rickets gene. 
  • Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. 
  • Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 
  • Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 
  • 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 EMP2 cause childhood-onset nephrotic syndrome. 
  • Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. 
  • Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. 
  • Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. 
  • Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. 
  • Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. 
  • Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. 
  • Myocyte nuclear factor, a novel winged-helix transcription factor under both developmental and neural regulation in striated myocytes. 
  • Myopia genetics: a review of current research and emerging trends. 
  • NF1-related locus on chromosome 15. 
  • NOS2A, TLR4, and IFNGR1 interactions influence pulmonary tuberculosis susceptibility in African-Americans. 
  • Na(v)1.6a is required for normal activation of motor circuits normally excited by tactile stimulation. 
  • Natural allelic variation of the IL-21 receptor modulates ischemic stroke infarct volume. 
  • Natural and orthogonal model for estimating gene-gene interactions applied to cutaneous melanoma. 
  • Natural variation in MAM within and between populations of Arabidopsis lyrata determines glucosinolate phenotype. 
  • New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome. 
  • New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. 
  • Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. 
  • Next-generation computational genetic analysis: multiple complement alleles control survival after Candida albicans infection. 
  • Nonrandom distribution of interhomolog recombination events induced by breakage of a dicentric chromosome in Saccharomyces cerevisiae. 
  • North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites. 
  • Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. 
  • Novel Insights into Chromosome Evolution in Birds, Archosaurs, and Reptiles. 
  • Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 
  • Novel suppressor loci on chromosome 14q in primary bladder cancer. 
  • Nucleotide sequence and high-level expression of the major Escherichia coli phosphofructokinase. 
  • Nucleotide sequence, expression, and chromosomal mapping of Mrp and mapping of five related sequences. 
  • Nucleotide variation at the myrosinase-encoding locus, TGG1, and quantitative myrosinase enzyme activity variation in Arabidopsis thaliana. 
  • One-step and stepwise magnification of a bobbed lethal chromosome in Drosophila melanogaster. 
  • Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity. 
  • Ordered subset analysis in genetic linkage mapping of complex traits. 
  • Ordered-subset analysis of savant skills in autism for 15q11-q13. 
  • Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22. 
  • Oxidative stress survival in a clinical Saccharomyces cerevisiae isolate is influenced by a major quantitative trait nucleotide. 
  • PCGEM1, a prostate-specific gene, is overexpressed in prostate cancer. 
  • Parallel mapping of genotypes to phenotypes contributing to overall biological fitness. 
  • Paralogy mapping: identification of a region in the human MHC triplicated onto human chromosomes 1 and 9 allows the prediction and isolation of novel PBX and NOTCH loci. 
  • Partitioned pulsed-field gel electrophoresis-PCR (PPF-PCR): a new method for pulsed-field mapping for STS and microsatellites. 
  • Pathway for lipid A biosynthesis in Arabidopsis thaliana resembling that of Escherichia coli. 
  • Patterns of regulatory activity across diverse human cell types predict tissue identity, transcription factor binding, and long-range interactions. 
  • Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease. 
  • Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder. 
  • Physical and genetic linkage of the genes encoding Ly-9 and CD48 on mouse and human chromosomes 1. 
  • Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. 
  • Physical lengths of meiotic and mitotic gene conversion tracts in Saccharomyces cerevisiae. 
  • Physiological Genomics: Who we are and where we're going. 
  • Polymerase chain reaction fingerprinting in fungi using single primers specific to minisatellites and simple repetitive DNA sequences: strain variation in Cryptococcus neoformans. 
  • Population bottlenecks as a potential major shaping force of human genome architecture. 
  • Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 
  • Positional cloning of a temperature-sensitive mutant emmental reveals a role for sly1 during cell proliferation in zebrafish fin regeneration. 
  • Power of non-parametric linkage analysis in mapping genes contributing to human longevity in long-lived sib-pairs. 
  • 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. 
  • Presence of large deletions in kindreds with autism. 
  • Primary immunodeficiency mutation databases. 
  • Primary structure and domain organization of human alpha and beta adducin. 
  • Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma. 
  • Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice. 
  • QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival. 
  • Quantitative trait locus and computational mapping identifies Kcnj9 (GIRK3) as a candidate gene affecting analgesia from multiple drug classes. 
  • Quantitative trait locus mapping of human blood pressure to a genetic region at or near the lipoprotein lipase gene locus on chromosome 8p22. 
  • Quantitative trait locus mapping reveals regions of the maize genome controlling root system architecture. 
  • RFLPs at the D19S19 locus of human chromosome 19 linked to myotonic dystrophy (DM). 
  • Rapid mapping of insertional mutations to probe cell wall regulation in Cryptococcus neoformans. 
  • Recent advances in the molecular biology of dopamine receptors. 
  • Recent evolution of the human pathogen Cryptococcus neoformans by intervarietal transfer of a 14-gene fragment. 
  • Recombinant DNA strategies in genetic neurological diseases. 
  • Recombination of plasmids into the Saccharomyces cerevisiae chromosome is reduced by small amounts of sequence heterogeneity. 
  • 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. 
  • Refinement of map position of the human GluR6 kainate receptor gene (GRIK2) and lack of association and linkage with idiopathic generalized epilepsies. 
  • 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. 
  • Regulation of flt-1 expression during mouse embryogenesis suggests a role in the establishment of vascular endothelium. 
  • Regulation of the human interleukin-3 gene. 
  • Regulatory network motifs and hotspots of cancer genes in a mammalian cellular signalling network. 
  • Report and abstracts of the third international workshop on human chromosome 1 mapping 1997. 
  • Report of the Second International Workshop on Human Chromosome 19 mapping 1992. 
  • Report of the Sixth International Workshop on Human Chromosome 11 Mapping 1998. Nice, France, May 2-5, 1998. 
  • Report of the committee on the genetic constitution of chromosome 19. 
  • Report of the committee on the genetic constitution of chromosomes 18 and 19. 
  • Report of the committee on the genetic constitution of chromosomes 18 and 19. 
  • Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996. 
  • Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997. 
  • Responsible Use of Human Gene-Editing Technologies. 
  • Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. 
  • Reverse genetics of Drosophila RNA polymerase II: identification and characterization of RpII140, the genomic locus for the second-largest subunit. 
  • Rh-related antigen CD47 is the signal-transducer integrin-associated protein. 
  • SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. 
  • SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. 
  • SNPselector: a web tool for selecting SNPs for genetic association studies. 
  • Screening for pain phenotypes: analysis of three congenic mouse strains on a battery of nine nociceptive assays. 
  • Searching for epistatic interactions in nuclear families using conditional linkage analysis. 
  • Secreted placental alkaline phosphatase: a powerful new quantitative indicator of gene expression in eukaryotic cells. 
  • Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family. 
  • Separation of chromosomes of Cryptococcus neoformans by pulsed field gel electrophoresis. 
  • Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility. 
  • Sequence-based differentiation of strains in the Mycobacterium avium complex. 
  • Sequencing and analysis of genomic fragments from the NF1 locus. 
  • Serial analysis of gene expression (SAGE) in normal human trabecular meshwork. 
  • Serotype AD strains of Cryptococcus neoformans are diploid or aneuploid and are heterozygous at the mating-type locus. 
  • Simple Mendelian inheritance of the repeating yeast ribosomal DNA genes. 
  • Single-nucleotide polymorphism alleles in the insulin receptor gene are associated with typical migraine. 
  • Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function. 
  • Stathmin-deficient mice develop an age-dependent axonopathy of the central and peripheral nervous systems. 
  • Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser. 
  • Strategies for the multiplex mapping of genes to traits. 
  • Structural and functional analysis of the visna virus Rev-response element. 
  • Structural basis of the intrasteric regulation of myosin light chain kinases. 
  • Structural organization and chromosomal assignment of the parvalbumin gene. 
  • Structural organization of the human MS4A gene cluster on Chromosome 11q12. 
  • Studies of the lethargic (lh/lh) mouse model of absence seizures: regulatory mechanisms and identification of the lh gene. 
  • Suppressor analysis of temperature-sensitive RNA polymerase I mutations in Saccharomyces cerevisiae: suppression of mutations in a zinc-binding motif by transposed mutant genes. 
  • Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. 
  • TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. 
  • Tagging SNPs in non-homologous end-joining pathway genes and risk of glioma. 
  • The Arabidopsis NPR1 gene that controls systemic acquired resistance encodes a novel protein containing ankyrin repeats. 
  • The Arabidopsis RGA gene encodes a transcriptional regulator repressing the gibberellin signal transduction pathway. 
  • The COBRA family of putative GPI-anchored proteins in Arabidopsis. A new fellowship in expansion. 
  • The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. 
  • The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. 
  • The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. 
  • The GRK4 subfamily of G protein-coupled receptor kinases. Alternative splicing, gene organization, and sequence conservation. 
  • The HIV-1 rev trans-activator acts through a structured target sequence to activate nuclear export of unspliced viral mRNA. 
  • The PsychENCODE project. 
  • The Ter mutation in the dead end gene causes germ cell loss and testicular germ cell tumours. 
  • The chromosomal mapping of four genes encoding winged helix proteins expressed early in mouse development. 
  • The distinction between juvenile and adult-onset primary open-angle glaucoma. 
  • The draft genome of tropical fruit durian (Durio zibethinus). 
  • The evolutionary forest algorithm. 
  • The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. 
  • The fruitless gene is required for the proper formation of axonal tracts in the embryonic central nervous system of Drosophila. 
  • The gene encoding the glutamate receptor subunit GluR5 is located on human chromosome 21q21.1-22.1 in the vicinity of the gene for familial amyotrophic lateral sclerosis. 
  • The gene encoding the p60 subunit of chromatin assembly factor I (CAF1P60) maps to human chromosome 21q22.2, a region associated with some of the major features of Down syndrome. 
  • 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 generation of ordered sets of cosmid DNA clones from human chromosome region 11p. 
  • The genetic control of the immune response to staphylococcal nuclease VI. Recombination between genes determining the A/J anti-nuclease idiotypes and the heavy chain allotype locus. 
  • The genetics of primary open-angle glaucoma: a review. 
  • The human TTP protein: sequence, alignment with related proteins, and chromosomal localization of the mouse and human genes. 
  • The human extraocular muscle myosin heavy chain gene (MYH13) maps to the cluster of fast and developmental myosin genes on chromosome 17. 
  • 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 immunophilin FKBP4 (FKBP52/FKBP59) maps to the distal short arm of human chromosome 12. 
  • The insulin gene is transcribed in the human thymus and transcription levels correlated with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes. 
  • The mouse Cd83 gene: structure, domain organization, and chromosome localization. 
  • The murine Hox-2 cluster of homeo box containing genes maps distal on chromosome 11 near the tail-short (Ts) locus. 
  • The p47 GTPases Igtp and Irgb10 map to the Chlamydia trachomatis susceptibility locus Ctrq-3 and mediate cellular resistance in mice. 
  • The polymorphic locus for glycogen storage disease VI (liver glycogen phosphorylase) maps to chromosome 14. 
  • The rRNA-encoding DNA array has an altered structure in topoisomerase I mutants of Saccharomyces cerevisiae. 
  • The reference genome sequence of Saccharomyces cerevisiae: then and now. 
  • The regulatory light chain of nonmuscle myosin is encoded by spaghetti-squash, a gene required for cytokinesis in Drosophila. 
  • The role of nitric oxide in the pathogenesis of spontaneous murine autoimmune disease: increased nitric oxide production and nitric oxide synthase expression in MRL-lpr/lpr mice, and reduction of spontaneous glomerulonephritis and arthritis by orally administered NG-monomethyl-L-arginine. 
  • The statistics of bulk segregant analysis using next generation sequencing. 
  • The syntenic relationship of proximal mouse chromosome 7 and the myotonic dystrophy gene region on human chromosome 19q. 
  • Theoretical and practical advances in genome halving. 
  • Three tumor-suppressor regions on chromosome 11p identified by high-resolution deletion mapping in human non-small-cell lung cancer. 
  • Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome? 
  • Toward molecular understanding of polar overdominance at the ovine callipyge locus. 
  • Trans-activating rev protein of the human immunodeficiency virus 1 interacts directly and specifically with its target RNA. 
  • Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). 
  • Transmission ratio distortion in intraspecific hybrids of Mimulus guttatus: implications for genomic divergence. 
  • Transplantation in miniature swine. VI. Factors influencing survival of renal allografts. 
  • Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses. 
  • Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency. 
  • Two new loci, PLEIADE and HYADE, implicate organ-specific regulation of cytokinesis in Arabidopsis. 
  • Two tRNA gene clusters associated with rRNA operons rrnD and rrnE in Bacillus subtilis. 
  • Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. 
  • Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia. 
  • Unequal meiotic recombination within tandem arrays of yeast ribosomal DNA genes. 
  • Unifying genetic canalization, genetic constraint, and genotype-by-environment interaction: QTL by genomic background by environment interaction of flowering time in Boechera stricta. 
  • 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. 
  • Using mathematical models to understand metabolism, genes, and disease. 
  • Utility of EGFR and PTEN numerical aberrations in the evaluation of diffusely infiltrating astrocytomas. Laboratory investigation. 
  • Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. 
  • Verification of a new gene on Saccharomyces cerevisiae chromosome III. 
  • X-Linked syndrome of polyendocrinopathy, immune dysfunction, and diarrhea maps to Xp11.23-Xq13.3. 
  • X-linked high myopia associated with cone dysfunction. 
  • Y353/B: a candidate multiple-copy spermiogenesis gene on the mouse Y chromosome. 
  • Yantar, a conserved arginine-rich protein is involved in Drosophila hemocyte development. 
  • Yeast RPO41 gene product is required for transcription and maintenance of the mitochondrial genome. 
  • Yeast ribosomal DNA genes are located on chromosome XII. 
  • cDNA cloning and chromosomal localization of the human beta-adrenergic receptor kinase. 
  • cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. 
  • cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene. 
  • hEST2, the putative human telomerase catalytic subunit gene, is up-regulated in tumor cells and during immortalization. 
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  Keywords of People

  • Bejsovec, Amy, Associate Professor of Biology, Biology
  • Bennett, Vann, George B. Geller Professor for Research in Molecular Biology in the School of Medicine, Duke Cancer Institute
  • Berchuck, Andrew, James M. Ingram Professor of Gynecologic Oncology, Obstetrics and Gynecology, Gynecologic Oncology
  • Ferreira, Paulo Alexandre, Associate Professor in Ophthalmology, Pathology
  • Hartemink, Alexander J., Professor in the Department of Computer Science, Computer Science
  • Muir, Kelly Walton, Associate Professor of Ophthalmology, Ophthalmology, Glaucoma
  • Pitt, Geoffrey Stuart, Adjunct Professor in the Department of Medicine, Medicine, Cardiology
  • Tsalik, Ephraim, Associate Professor of Medicine, Molecular Genetics and Microbiology