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La ricerca find articoli where soggetti phrase all words 'single nucleotide polymorphisms' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 272 riferimenti
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    1. Thompson, MA; Weinshilboum, RM; El Yazal, J; Wood, TC; Pang, YC
      Rabbit indolethylamine N-methyltransferase three-dimensional structure prediction: a model approach to bridge sequence to function in pharmacogenomicstudies

      JOURNAL OF MOLECULAR MODELING
    2. Wandstrat, A; Wakeland, E
      The genetics of complex autoimmune diseases: non-MHC susceptibility genes

      NATURE IMMUNOLOGY
    3. Schaefer, C; Grouse, L; Buetow, K; Strausberg, RL
      A new cancer genome anatomy project web resource for the community

      CANCER JOURNAL
    4. Umek, RM; Lin, SW; Vielmetter, J; Terbrueggen, RH; Irvine, B; Yu, CJ; Kayyem, JF; Yowanto, H; Blackburn, GF; Farkas, DH; Chen, YP
      Electronic detection of nucleic acids - A versatile platform for moleculardiagnostics

      JOURNAL OF MOLECULAR DIAGNOSTICS
    5. Taylor, JG; Choi, EH; Foster, CB; Chanock, SJ
      Using genetic variation to study human disease

      TRENDS IN MOLECULAR MEDICINE
    6. Cardon, LR; Bell, JI
      Association study designs for complex diseases

      NATURE REVIEWS GENETICS
    7. Jirholt, J; Lindqvist, AKB; Holmdahl, R
      The genetics of rheumatoid arthritis and the need for animal models to find and understand the underlying genes

      ARTHRITIS RESEARCH
    8. Chen, WC; Chen, HY; Lu, HF; Hsu, CD; Tsai, FJ
      Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease

      BJU INTERNATIONAL
    9. Saito, S; Iida, A; Sekine, A; Miura, Y; Sakamoto, T; Ogawa, C; Kawauchi, S; Higuchi, S; Nakamura, Y
      Identification of 197 genetic variations in six human methyltransferase genes in the Japanese population

      JOURNAL OF HUMAN GENETICS
    10. Ohashi, J; Tokunaga, K
      The power of genome-wide association studies of complex disease genes: statistical limitations of indirect approaches using SNP markers

      JOURNAL OF HUMAN GENETICS
    11. Nakazawa, I; Nakajima, T; Ishigami, T; Umemura, S; Emi, M
      Linkage disequilibrium and haplotype analysis among eight novel single-nucleotide polymorphisms in the human tissue-type plasminogen activator (t-PA)gene

      JOURNAL OF HUMAN GENETICS
    12. Saito, S; Iida, A; Sekine, A; Eguchi, C; Miura, Y; Nakamura, Y
      Seventy genetic variations in human microsomal and soluble epoxide hydrolase genes (EPHX1 and EPHX2) in the Japanese population

      JOURNAL OF HUMAN GENETICS
    13. Nakazawa, I; Nakajima, T; Harada, H; Ishigami, T; Umemura, S; Emi, M
      Human calcitonin receptor-like receptor for adrenomedullin: genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis

      JOURNAL OF HUMAN GENETICS
    14. Takeoka, S; Unoki, M; Onouchi, Y; Doi, S; Fujiwara, H; Miyatake, A; Fujita, K; Inoue, I; Nakamura, Y; Tamari, M
      Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children

      JOURNAL OF HUMAN GENETICS
    15. Iida, A; Saito, S; Sekine, A; Mishima, C; Kondo, K; Kitamura, Y; Harigae, S; Osawa, S; Nakamura, Y
      Catalog of 258 single-nucleotide polymorphisms (SNPs) in genes encoding three organic anion transporters, three organic anion-transporting polypeptides, and three NADH : ubiquinone oxidoreductase flavoproteins

      JOURNAL OF HUMAN GENETICS
    16. Yuasa, I; Nakamura, H; Henke, L; Henke, J; Nakagawa, M; Irizawa, Y; Umetsu, K
      Characterization of genomic rearrangements of the alpha(1)-acid glycoprotein/orosomucoid gene in Ghanaians

      JOURNAL OF HUMAN GENETICS
    17. Iida, A; Saito, S; Sekine, A; Harigae, S; Osawa, S; Mishima, C; Kondo, K; Kitamura, Y; Nakamura, Y
      Catalog of 46 single-nucleotide polymorphisms (SNPs) in the microsomal glutathione S-transferase 1 (MGST1) gene

      JOURNAL OF HUMAN GENETICS
    18. Iida, A; Ohnishi, Y; Ozaki, K; Ariji, Y; Nakamura, Y; Tanaka, T
      High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2

      JOURNAL OF HUMAN GENETICS
    19. Kyo, K; Muto, T; Nagawa, H; Lathrop, GM; Nakamura, Y
      Associations of distinct variants of the intestinal mucin gene MUC3A with ulcerative colitis and Crohn's disease

      JOURNAL OF HUMAN GENETICS
    20. Schneider, K; Weisshaar, B; Borchardt, DC; Salamini, F
      SNP frequency and allelic haplotype structure of Beta vulgaris expressed genes

      MOLECULAR BREEDING
    21. Carlson, CS; Newman, TL; Nickerson, DA
      SNPing in the human genome

      CURRENT OPINION IN CHEMICAL BIOLOGY
    22. Jazwinska, EC
      Exploiting human genetic variation in drug discovery and development

      DRUG DISCOVERY TODAY
    23. Vasques, LR; Pereira, LV
      Allele-specific X-linked gene activity in normal human cells assayed by expressed single nucleotide polymorphisms (cSNPs)

      DNA RESEARCH
    24. Peng, FY; Labelle, LA; Rainey, BJ; Tsongalis, GJ
      Single nucleotide polymorphisms in the methylenetetrahydrofolate reductasegene are common in US Caucasian and Hispanic American populations

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    25. Tan, Z; Jiang, SS; Lin, ZX; Zhang, BF; Yu, J; Feng, GY; He, L
      Identification of SNPs in human gamma aminobutyric acid A receptor gamma 2gene

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    26. Ten Asbroek, ALMA; Olsen, J; Housman, D; Baas, F; Stanton, V
      Genetic variation in mRNA coding sequences of highly conserved genes

      PHYSIOLOGICAL GENOMICS
    27. Narayanaswami, G; Taylor, PD
      Improved efficiency of mutation detection by denaturing high-performance liquid chromatography using modified primers and hybridization procedure

      GENETIC TESTING
    28. Lai, E
      Application of SNP technologies in medicine: Lessons learned and future challenges

      GENOME RESEARCH
    29. Garcia, CK; Mues, G; Liao, YL; Hyatt, T; Patil, N; Cohen, JC; Hobbs, HH
      Sequence diversity in genes of lipid metabolism

      GENOME RESEARCH
    30. Ng, PC; Henikoff, S
      Predicting deleterious amino acid substitutions

      GENOME RESEARCH
    31. Deutsch, S; Iseli, C; Bucher, P; Antonarakis, SE; Scott, HS
      A cSNP map and database for human chromosome 21

      GENOME RESEARCH
    32. Ponger, L; Duret, L; Mouchiroud, D
      Determinants of CpG islands: Expression in early embryo and isochore structure

      GENOME RESEARCH
    33. Cutler, DJ; Zwick, ME; Carrasquillo, MM; Yohn, CT; Tobin, KP; Kashuk, C; Mathews, DJ; Shah, NA; Eichler, EE; Warrington, JA; Chakravarti, A
      High-throughput variation detection and genotyping using microarrays

      GENOME RESEARCH
    34. Shapero, MH; Leuther, KK; Nguyen, A; Scott, M; Jones, KW
      SNP genotyping by multiplexed solid-phase amplification and fluorescent minisequencing

      GENOME RESEARCH
    35. Premstaller, A; Xiao, WH; Oberacher, H; O'Keefe, M; Stern, D; Willis, T; Huber, CG; Oefner, PJ
      Temperature-modulated array high-performance liquid chromatography

      GENOME RESEARCH
    36. Frazer, KA; Sheehan, JB; Stokowski, RP; Chen, XY; Hosseini, R; Cheng, JF; Fodor, SPA; Cox, DR; Patil, N
      Evolutionarily conserved sequences on human chromosome 21

      GENOME RESEARCH
    37. Dawson, E; Chen, Y; Hunt, S; Smink, LJ; Hunt, A; Rice, K; Livingston, S; Bumpstead, S; Bruskiewich, R; Sham, P; Ganske, R; Adams, M; Kawasaki, K; Shimizu, N; Minoshima, S; Roe, B; Bentley, D; Dunham, I
      A SNP resource for human chromosome 22: Extracting dense clusters of SNPs from the genomic sequence

      GENOME RESEARCH
    38. Zhang, W; Laborde, PM; Coombes, KR; Berry, DA; Hamilton, SR
      Cancer genomics: Promises and complexities

      CLINICAL CANCER RESEARCH
    39. Wakeland, EK; Liu, K; Graham, RR; Behrens, TW
      Delineating the genetic basis of systemic lupus erythematosus

      IMMUNITY
    40. Zakharova, FM; Golubkov, VI; Mandelshtam, MJ; Lipovetskii, BM; Gaitskhoki, VS
      Identification of novel missense mutation G571E, novel silent mutation H229H, nonsense mutation C74X, and four single nucleotide polymorphisms in thelow-density lipoprotein receptor gene in patients with familial hypercholesterolemia from St. Petersburg

      RUSSIAN JOURNAL OF BIOORGANIC CHEMISTRY
    41. Sklar, P
      The genomic approach to candidate genes

      HARVARD REVIEW OF PSYCHIATRY
    42. Wicks, SR; Yeh, RT; Gish, WR; Waterston, RH; Plasterk, RHA
      Rapid gene mapping in Caenorhabditis elegans using a high density polymorphism map

      NATURE GENETICS
    43. Kuehl, P; Zhang, J; Lin, Y; Lamba, J; Assem, M; Schuetz, J; Watkins, PB; Daly, A; Wrighton, SA; Hall, SD; Maurel, P; Relling, M; Brimer, C; Yasuda, K; Venkataramanan, R; Strom, S; Thummel, K; Boguski, MS; Schuetz, E
      Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression

      NATURE GENETICS
    44. Glatt, CE; DeYoung, JA; Delgado, S; Service, SK; Giacomini, KM; Edwards, RH; Risch, N; Freimer, NB
      Screening a large reference sample to identify very low frequency sequencevariants: comparisons between two genes

      NATURE GENETICS
    45. Little, P
      The end of all human DNA maps?

      NATURE GENETICS
    46. Kruglyak, L; Nickerson, DA
      Variation is the spice of life

      NATURE GENETICS
    47. Liu, HX; Cartegni, L; Zhang, MQ; Krainer, AR
      A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

      NATURE GENETICS
    48. Watanabe, Y; Murray, JC; Bjork, BC; Bird, CP; Chiang, PW; Gregory, SG; Kurnit, DM; Schutte, BC
      Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41

      HUMAN MUTATION
    49. Gelhaus, A; Scheding, A; Browne, E; Burchard, GD; Horstmann, RD
      Variability of the CD36 gene in West Africa

      HUMAN MUTATION
    50. Chen, H; Jawahar, S; Qian, YM; Duong, QY; Chan, GY; Parker, A; Meyer, JM; Moore, KJ; Chayen, S; Gross, DJ; Glaser, B; Permutt, MA; Fricker, LD
      Missense polymorphism in the human carboxypeptlidase E gene alters enzymatic activity

      HUMAN MUTATION
    51. Xiao, WZ; Oefner, PJ
      Denaturing high-performance liquid chromatography: A review

      HUMAN MUTATION
    52. Wang, Z; Moult, J
      SNPs, protein structure, and disease

      HUMAN MUTATION
    53. Bray, MS; Boerwinkle, E; Doris, PA
      High-throughput multiplex SNP genotyping with MALDI-TOF mass spectrometry:Practice, problems and promise

      HUMAN MUTATION
    54. Nickerson, ML; Warren, MB; Zbar, B; Schmidt, LS
      Random mutagenesis-PCR to introduce alterations into defined DNA sequencesfor validation of SNP and mutation detection methods

      HUMAN MUTATION
    55. Cox, DG; Boillot, C; Canzian, F
      Data mining: Efficiency of using sequence databases for polymorphism discovery

      HUMAN MUTATION
    56. Daley, GQ; Cargill, M
      The heart SNPs a beat: Polymorphisms in candidate genes for cardiovasculardisease

      TRENDS IN CARDIOVASCULAR MEDICINE
    57. Hoit, BD; Nadeau, JH
      Phenotype-driven genetic approaches in mice - High-throughput phenotyping for discovering new models of cardiovascular disease

      TRENDS IN CARDIOVASCULAR MEDICINE
    58. Distler, AM; Allison, J
      5-methoxysalicylic acid and spermine: A new matrix for the matrix-assistedlaser desorption/ionization mass spectrometry analysis of oligonucleotides

      JOURNAL OF THE AMERICAN SOCIETY FOR MASS SPECTROMETRY
    59. Prince, JA; Feuk, L; Sawyer, SL; Gottfries, J; Ricksten, A; Nagga, K; Bogdanovic, N; Blennow, K; Brookes, AJ
      Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease

      EUROPEAN JOURNAL OF HUMAN GENETICS
    60. Nakatani, K; Sando, S; Saito, I
      Improved selectivity for the binding of naphthyridine dimer to guanine-guanine mismatch

      BIOORGANIC & MEDICINAL CHEMISTRY
    61. Sunyaev, S; Ramensky, V; Koch, I; Lathe, W; Kondrashov, AS; Bork, P
      Prediction of deleterious human alleles

      HUMAN MOLECULAR GENETICS
    62. Jorde, LB; Watkins, WS; Bamshad, MJ
      Population genomics: a bridge from evolutionary history to genetic medicine

      HUMAN MOLECULAR GENETICS
    63. Faham, M; Baharloo, S; Tomitaka, S; DeYoung, J; Freimer, NB
      Mismatch repair detection (MRD): high-throughput scanning for DNA variations

      HUMAN MOLECULAR GENETICS
    64. Lazzeroni, LC
      A chronology of fine-scale gene mapping by linkage disequilibrium

      STATISTICAL METHODS IN MEDICAL RESEARCH
    65. Zhang, J; Kuehl, P; Green, ED; Touchman, JW; Watkins, PB; Daly, A; Hall, SD; Maurel, P; Relling, M; Brimer, C; Yasuda, K; Wrighton, SA; Hancock, M; Kim, RB; Strom, S; Thummel, K; Russell, CG; Hudson, JR; Schuetz, EG; Boguski, MS
      The human pregnane X receptor: genomic structure and identification and functional characterization of natural allelic variants

      PHARMACOGENETICS
    66. Fretland, AJ; Leff, MA; Doll, MA; Hein, DW
      Functional characterization of human N-acetyltransferase 2 (NAT2) single nucleotide polymorphisms

      PHARMACOGENETICS
    67. Garland, EM; Biaggioni, I
      Genetic polymorphisms of adrenergic receptors

      CLINICAL AUTONOMIC RESEARCH
    68. Nowotny, P; Kwon, JM; Goate, AM
      SNP analysis to dissect human traits

      CURRENT OPINION IN NEUROBIOLOGY
    69. Aquadro, CF; DuMont, VB; Reed, FA
      Genome-wide variation in the human and fruitfly: a comparison

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    70. Antonarakis, SE
      Chromosome 21: from sequence to applications

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    71. Tillib, SV; Mirzabekov, A
      Advances in the analysis of DNA sequence variations using oligonucleotide microchip technology

      CURRENT OPINION IN BIOTECHNOLOGY
    72. Bennet, AM; Naslund, TI; Morgenstern, R; de Faire, U
      Bioinformatic and experimental tools for identification of single-nucleotide polymorphisms in genes with a potential role for the development of the insulin resistance syndrome

      JOURNAL OF INTERNAL MEDICINE
    73. Premstaller, A; Ongania, KH; Huber, CG
      Factors determining the performance of triple quadrupole, quadrupole ion trap and sector field mass spectrometers in electrospray ionization tandem mass spectrometry of oligonucleotides. 1. Comparison of performance characteristics

      RAPID COMMUNICATIONS IN MASS SPECTROMETRY
    74. Yamada, S; Onda, M; Kato, S; Matsuda, N; Matsuhisa, T; Yamada, N; Miki, M; Matsukura, N
      Genetic differences in CYP2C19 single nucleotide polymorphisms among four Asian populations

      JOURNAL OF GASTROENTEROLOGY
    75. Atencio, DP; Iannuzzi, CM; Green, S; Stock, RG; Bernstein, JL; Rosenstein, BS
      Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high-performance liquid chromatography

      ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
    76. Ronen, A; Glickman, BW
      Human DNA repair genes

      ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
    77. Freeman, K; Nakao, K; Leinwand, LA
      Low sequence variation in the gene encoding the human beta-myosin heavy chain

      GENOMICS
    78. Sanders, AR; Cao, QH; Taylor, J; Levin, TE; Badner, JA; Cravchik, A; Comeron, JM; Naruya, S; Del Rosario, A; Salvi, DA; Walczyk, KA; Mowry, BJ; Levinson, DF; Crowe, RR; Silverman, JM; Gejman, PV
      Genetic diversity of the human serotonin receptor 1B (HTR1B) gene

      GENOMICS
    79. Passarino, G; Shen, P; Van Kirk, JB; Lin, AA; De Benedictis, G; Sforza, LLC; Oefner, PJ; Underhill, PA
      The Werner syndrome gene and global sequence variation

      GENOMICS
    80. Detera-Wadleigh, SD
      Lithium-related genetics of bipolar disorder

      ANNALS OF MEDICINE
    81. Zhu, XF; Cooper, RS; Chen, GJ; Luke, A; Elston, RC
      Localization of the Q1 mutation by cladistic analysis

      GENETIC EPIDEMIOLOGY
    82. Smith, NGC; Eyre-Walker, A
      Synonymous codon bias is not caused by mutation bias in G+C-rich genes in humans

      MOLECULAR BIOLOGY AND EVOLUTION
    83. Xiao, W; Stern, D; Jain, M; Huber, CG; Oefner, PJ
      Multiplex capillary denaturing high-performance liquid chromatography withlaser-induced fluorescence detection

      BIOTECHNIQUES
    84. Smith, EJ; Smith, GE; Shi, L
      A snafu in SNP analysis in a member of a multigene family

      BIOTECHNIQUES
    85. Kristensen, VN; Kelefiotis, D; Kristensen, T; Borresen-Dale, AL
      High-throughput methods for detection of genetic variation

      BIOTECHNIQUES
    86. Akey, JM; Sosnoski, D; Parra, E; Dios, S; Hiester, K; Su, B; Bonilla, C; Jin, L; Shriver, MD
      Melting curve analysis of SNPs (McSNP (R)): A gel-free and inexpensive approach for SNP genotyping

      BIOTECHNIQUES
    87. Pusch, W; Kraeuter, KO; Froehlich, T; Stalgies, Y; Kostrzewa, M
      Genotools SNP MANAGER: A new software for automated high-throughput MALDI-TOF mass spectrometry SNP genotyping

      BIOTECHNIQUES
    88. Park, BK; Pirmohamed, M
      Toxicogenetics in drug development

      TOXICOLOGY LETTERS
    89. McLeod, HL; Evans, WE
      Pharmacogenomics: Unlocking the human genome for better drug therapy

      ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY
    90. Clark, VJ; Metheny, N; Dean, M; Peterson, RJ
      Statistical estimation and pedigree analysis of CCR2-CCR5 haplotypes

      HUMAN GENETICS
    91. Benson, JM; Ellingsen, D; El-Jamil, M; Jenkins, M; Miller, CH; Dilley, A; Evatt, BL; Hooper, WC
      Factor V leiden and factor V R2 allele: High-throughput analysis and association with venous thromboembolism

      THROMBOSIS AND HAEMOSTASIS
    92. Bertina, RM
      Genetic approach to thrombophilia

      THROMBOSIS AND HAEMOSTASIS
    93. Muthane, U; Jain, S; Gururaj, G
      Hunting genes in Parkinson's disease from the roots

      MEDICAL HYPOTHESES
    94. Beaulieu, M; Larson, GP; Geller, L; Flanagan, SD; Krontiris, TG
      PCR candidate region mismatch scanning: adaptation to quantitative, high-throughput genotyping

      NUCLEIC ACIDS RESEARCH
    95. Chen, WC; Wu, HC; Lu, HF; Chen, HY; Tsai, FJ
      Calcitonin receptor gene polymorphism: A possible genetic marker for patients with calcium oxalate stones

      EUROPEAN UROLOGY
    96. Dahia, PLM; Eng, C
      Hereditary endocrine neoplasias: Fundamental insights and the practice of clinical cancer genetics

      GENETIC DISORDERS OF ENDOCRINE NEOPLASIA
    97. Chen, WC; Wu, HC; Chen, HY; Wu, MC; Hsu, CD; Tsai, FJ
      Interleukin-1 beta gene and receptor antagonist gene polymorphisms in patients with calcium oxalate stones

      UROLOGICAL RESEARCH
    98. Chen, WC; Lu, HF; Chen, HY; Hsu, CD; Tsai, FJ
      Arginine form of p21 gene codon 31 is less prominent in patients with calcium oxalate stone

      UROLOGICAL RESEARCH
    99. Chen, WC; Chen, HY; Wu, JY; Chen, YT; Tsai, FJ
      Osteocalcin gene Hind III polymorphism is not correlated with calcium oxalate stone disease

      UROLOGICAL RESEARCH
    100. Davies, E; Holloway, CD; Ingram, MC; Friel, EC; Inglis, GC; Swan, L; Hillis, WS; Fraser, R; Connell, JMC
      An influence of variation in the aldosterone synthase gene (CYP11B2) on corticosteroid responses to ACTH in normal human subjects

      CLINICAL ENDOCRINOLOGY


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Documento generato il 06/08/20 alle ore 04:39:24