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    1. Gulcher, J; Kong, A; Stefansson, K
      The genealogic approach to human genetics of disease

      CANCER JOURNAL
    2. Kwok, PY
      Methods for genotyping single nucleotide polymorphisms

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    3. Brookes, AJ
      Rethinking genetic strategies to study complex diseases

      TRENDS IN MOLECULAR MEDICINE
    4. 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
    5. Lev-Lehman, E; Bercovich, D; Xu, W; Stockton, DW; Beaudet, AL
      Characterization of the human beta 4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4

      JOURNAL OF HUMAN GENETICS
    6. 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
    7. Watanabe, T; Imoto, I; Kosugi, Y; Fukuda, Y; Mimura, J; Fujii, Y; Isaka, K; Takayama, M; Sato, A; Inazawa, J
      Human arylhydrocarbon receptor repressor (AHRR) gene: genomic structure and analysis of polymorphism in endometriosis

      JOURNAL OF HUMAN GENETICS
    8. 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
    9. 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
    10. 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
    11. 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
    12. 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
    13. Maeda, S; Koga, H; Matsunaga, S; Numasawa, T; Ikari, K; Furushima, K; Harata, S; Takeda, J; Sakou, T; Komiya, S; Inoue, I
      Gender-specific haplotype association of collagen alpha 2 (XI) gene in ossification of the posterior longitudinal ligament of the spine

      JOURNAL OF HUMAN GENETICS
    14. Russ, C; Lovestone, S; Powell, JF
      Identification of sequence variants and analysis of the role of the glycogen synthase kinase 3 beta gene and promoter in late onset Alzheimer's disease

      MOLECULAR PSYCHIATRY
    15. Lott, TJ; Effat, MM
      Evidence for a more recently evolved clade within a Candida albicans NorthAmerican population

      MICROBIOLOGY-SGM
    16. Ten Asbroek, ALMA; Olsen, J; Housman, D; Baas, F; Stanton, V
      Genetic variation in mRNA coding sequences of highly conserved genes

      PHYSIOLOGICAL GENOMICS
    17. Deutsch, S; Iseli, C; Bucher, P; Antonarakis, SE; Scott, HS
      A cSNP map and database for human chromosome 21

      GENOME RESEARCH
    18. Prince, JA; Feuk, L; Howell, WM; Jobs, M; Emahazion, T; Blennow, K; Brookes, AJ
      Robust and accurate single nucleotide polymorphism genotyping by dynamic allele-specific hybridization (DASH): Design criteria and assay validation

      GENOME RESEARCH
    19. Nakatani, K; Sando, S; Saito, I
      Scanning of guanine-guanine mismatches in DNA by synthetic ligands using surface plasmon resonance

      NATURE BIOTECHNOLOGY
    20. Gusfield, D
      Inference of haplotypes from samples of diploid populations: Complexity and algorithms

      JOURNAL OF COMPUTATIONAL BIOLOGY
    21. Lee, SG; Hong, S; Yoon, Y; Yang, I; Song, K
      Characterization of publicly available SNPs in the Korean population

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

      HUMAN MUTATION
    23. Wang, QG; Li, N; Deng, XM; Lian, ZX; Li, H; Wu, CX
      Single nucleotide polymorphism analysis on chicken extracelluar fatty acidbinding protein gene and its associations with fattiness trait

      SCIENCE IN CHINA SERIES C-LIFE SCIENCES
    24. Ke, YH; Su, B; Xiao, JH; Chen, H; Huang, W; Chen, Z; Chu, JY; Tan, JZ; Jin, L; Lu, DR
      Y-chromosome haplotype distribution in Han Chinese populations and modern human origin in East Asians

      SCIENCE IN CHINA SERIES C-LIFE SCIENCES
    25. Ke, YH; Su, B; Li, HY; Chen, LF; Qi, CJ; Guo, XJ; Huang, W; Jin, JZ; Lu, DR; Jin, L
      Y-chromosome evidence for no independent origin of modern human in China

      CHINESE SCIENCE BULLETIN
    26. 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
    27. Tillib, SV; Mirzabekov, A
      Advances in the analysis of DNA sequence variations using oligonucleotide microchip technology

      CURRENT OPINION IN BIOTECHNOLOGY
    28. 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
    29. Yoshida, C; Endo, Y; Baba, Y
      Enhanced throughput for DNA sequencing by capillary array electrophoresis with a gradient of electric field strength

      EUROPEAN JOURNAL OF PHARMACEUTICAL SCIENCES
    30. Ronen, A; Glickman, BW
      Human DNA repair genes

      ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
    31. Hardy, SW; Weir, BS; Kaplan, NL; Martin, ER
      Analysis of single nucleotide polymorphisms in candidate genes using the pedigree disequilibrium test

      GENETIC EPIDEMIOLOGY
    32. McClintick, J; Koller, DL; Pankratz, N; Kirkwood, SC; Naughton, B; Foroud, T
      Parametric linkage analysis and disequilibrium methods to identify loci for complex disease

      GENETIC EPIDEMIOLOGY
    33. Reich, DE; Goldstein, DB
      Detecting association in a case-control study while correcting for population stratification

      GENETIC EPIDEMIOLOGY
    34. Yu, KF; Haffner, M; Poysa, V
      Tailed primer base excision sequence scanning (TP-BESS) for detection of single nucleotide polymorphisms (SNPs)

      PLANT MOLECULAR BIOLOGY REPORTER
    35. Helmberg, A
      DNA-microarrays: novel techniques to study aging and guide gerontologic medicine

      EXPERIMENTAL GERONTOLOGY
    36. Lareu, M; Puente, J; Sobrino, B; Quintans, B; Brion, M; Carracedo, A
      The use of the LightCycler for the detection of Y chromosome SNPs

      FORENSIC SCIENCE INTERNATIONAL
    37. Rana, BK; Shiina, T; Insel, PA
      Genetic variations and polymorphisms of G protein-coupled receptors: Functional and therapeutic implications

      ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY
    38. 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
    39. 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
    40. 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
    41. Giordano, M; Mellai, M; Hoogendoorn, B; Momigliano-Richiardi, P
      Determination of SNP allele frequencies in pooled DNAs by primer extensiongenotyping and denaturing high-performance liquid chromatography

      JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS
    42. Limprasert, P; Saechan, V; Ruangdaraganon, N; Sura, T; Vasiknanote, P; Jaruratanasirikul, S; Brown, WT
      Haplotype analysis at the FRAXA locus in Thai subjects

      AMERICAN JOURNAL OF MEDICAL GENETICS
    43. Patil, N; Berno, AJ; Hinds, DA; Barrett, WA; Doshi, JM; Hacker, CR; Kautzer, CR; Lee, DH; Marjoribanks, C; McDonough, DP; Nguyen, BTN; Norris, MC; Sheehan, JB; Shen, NP; Stern, D; Stokowski, RP; Thomas, DJ; Trulson, MO; Vyas, KR; Frazer, KA; Fodor, SPA; Cox, DR
      Blocks of limited haplotype diversity revealed by high-resolution scanningof human chromosome 21

      SCIENCE
    44. Sachidanandam, R; Weissman, D; Schmidt, SC; Kakol, JM; Stein, LD; Mullikin, JC; Mortimore, BJ; Willey, DL; Hunt, SE; Cole, CG; Coggill, PC; Rice, CM; Ning, ZM; Rogers, J; Bentley, DR; Kwok, PY; Mardis, ER; Yeh, RT; Schultz, B; Cook, L; Davenport, R; Dante, M; Fulton, L; Hillier, L; Waterston, RH; McPherson, JD; Gilman, B; Schaffner, S; Van Etten, WJ; Reich, D; Higgins, J; Daly, MJ; Blumenstiel, B; Baldwin, J; Stange-Thomann, NS; Zody, MC; Linton, L; Lander, ES; Altshuler, D
      A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

      NATURE
    45. Spinola, M; Nomoto, T; Manenti, G; Falvella, FS; Massone, PPB; Conti, B; Cataldo, I; Valagussa, P; Incarbone, M; Miyamoto, K; Ushijima, T; Dragani, TA
      Linkage disequilibrium pattern in the L-myc gene in Italian and Japanese non-small-cell lung-cancer patients

      INTERNATIONAL JOURNAL OF CANCER
    46. Eller, E
      Effects of ascertainment bias on recovering human demographic history

      HUMAN BIOLOGY
    47. Mori, H; Okazawa, H; Iwamoto, K; Maeda, E; Hashiramoto, M; Kasuga, M
      A polymorphism in the 5 ' untranslated region and a Met(229) -> Leu variant in exon 5 of the human UCP1 gene are associated with susceptibility to Type II diabetes mellitus

      DIABETOLOGIA
    48. Brookes, AJ
      Issues and assays for single nucleotide polymorphism analysis in complex disease

      CHEMICO-BIOLOGICAL INTERACTIONS
    49. Clarke, BC; Larroque, OR; Bekes, F; Somers, D; Appels, R
      The frequent classes of expressed genes in wheat endosperm tissue as possible sources of genetic markers

      AUSTRALIAN JOURNAL OF AGRICULTURAL RESEARCH
    50. Kalow, W
      Perspectives in pharmacogenetics

      ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
    51. Zwick, ME; Cutler, DJ; Chakravarti, A
      Patterns of genetic variation in Mendelian and complex traits

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    52. Board, P; Tetlow, N; Blackburn, A; Chelvanayagam, G
      Database analysis and gene discovery in pharmacogenetics

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    53. Clifford, R; Edmonson, M; Hu, Y; Nguyen, C; Scherpbier, T; Buetow, KH
      Expression-based genetic/physical maps of single-nucleotide polymorphisms identified by the cancer genome anatomy project

      GENOME RESEARCH
    54. Woolley, AT; Guillemette, C; Cheung, CL; Housman, DE; Lieber, CM
      Direct haplotyping of kilobase-size DNA using carbon nanotube probes

      NATURE BIOTECHNOLOGY
    55. Boon, EM; Ceres, DM; Drummond, TG; Hill, MG; Barton, JK
      Mutation detection by electrocatalysis at DNA-modified electrodes

      NATURE BIOTECHNOLOGY
    56. Irizarry, K; Kustanovich, V; Li, C; Brown, N; Nelson, S; Wong, W; Lee, CJ
      Genome-wide analysis of single-nucleotide polymorphisms in human expressedsequences

      NATURE GENETICS
    57. Hardy, J; Singleton, A
      The future of genetic analysis of neurological disorders

      NEUROBIOLOGY OF DISEASE
    58. Eberle, MA; Kruglyak, L
      An analysis of strategies for discovery of single-nucleotide polymorphisms

      GENETIC EPIDEMIOLOGY
    59. O'Connell, JR
      Zero-recombinant haplotyping: Applications to fine mapping using SNPs

      GENETIC EPIDEMIOLOGY
    60. Liyanage, MS; Xanthopoulos, KG
      Human DNA sequence polymorphisms: New opportunities for drug discovery andcustomized patient care

      DRUG DEVELOPMENT RESEARCH
    61. Bell, R; Munro, J; Russ, C; Powell, JF; Bruinvels, A; Kerwin, RW; Collier, DA
      Systematic screening of the 14-3-3 eta (eta) chain gene for polymorphic variants and case-control analysis in schizophrenia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    62. Sunyaev, S; Hanke, J; Brett, D; Aydin, A; Zastrow, I; Lathe, W; Bork, P; Reich, J
      Individual variation in protein-coding sequences of human genome

      ADVANCES IN PROTEIN CHEMISTRY, VOL 54
    63. Lopez, Y; Nadaf, HL; Smith, OD; Connell, JP; Reddy, AS; Fritz, AK
      Isolation and characterization of the Delta(12)-fatty acid desaturase in peanut (Arachis hypogaea L.) and search for polymorphisms for the high oleate trait in Spanish market-type lines

      THEORETICAL AND APPLIED GENETICS
    64. Schork, NJ; Fallin, D; Lanchbury, JS
      Single nucleotide polymorphisms and the future of genetic epidemiology

      CLINICAL GENETICS
    65. Hoh, J; Hodge, SE
      A measure of phase ambiguity in pairs of SNPs in the presence of linkage disequilibrium

      HUMAN HEREDITY
    66. Sugimoto, N; Fukuda, Y; Saito-Ohara, F; Kamiyama, R; Nakagawara, A; Mukae, N; Nagata, S; Inazawa, J
      The human caspase-activated DNase gene (hCAD): genomic structure, exonic single-nucleotide polymorphisms, and a highly polymorphic dinucleotide repeat at the hCAD locus

      JOURNAL OF HUMAN GENETICS
    67. DiAngelo, S; Lin, ZW; Wang, GR; Phillips, S; Ramet, M; Luo, JM; Floros, J
      Novel, non-radioactive, simple and multiplex PCR-cRFLP methods for genotyping human SP-A and SP-D marker alleles

      DISEASE MARKERS
    68. Germano, J; Klein, AS
      Species-specific nuclear and chloroplast single nucleotide polymorphisms to distinguish Picea glauca, P-mariana and P-rubens

      THEORETICAL AND APPLIED GENETICS
    69. Hernandez, A; Evers, BM
      Functional genomics - Clinical effect and the evolving role of the surgeon

      ARCHIVES OF SURGERY
    70. GU ZJ; HILLIER L; KWOK PY
      SINGLE NUCLEOTIDE POLYMORPHISM HUNTING IN CYBERSPACE

      Human mutation


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/06/20 alle ore 20:07:22