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La ricerca find articoli where soggetti phrase all words 'mutation' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 25375 riferimenti
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    1. Little, MP; Haylock, RGE; Muirhead, CR
      Modelling lung tumour risk in radon-exposed uranium miners using generalizations of the two-mutation model of Moolgavkar, Venzon and Knudson

      INTERNATIONAL JOURNAL OF RADIATION BIOLOGY
    2. Milligan, G
      Construction and analysis of function of G protein-coupled receptor-G protein fusion proteins

      G PROTEIN PATHWAYS, PT A, RECEPTORS
    3. Domingo, E
      Quasispecies theory in virology

      JOURNAL OF VIROLOGY
    4. Piganeau, G; Mouchiroud, D; Duret, L; Gautier, C
      Expected relationship between the silent substitution rate and the GC content: Implications for the evolution of isochores

      JOURNAL OF MOLECULAR EVOLUTION
    5. Legrand, E; Hedde, C; Gallois, Y; Degasne, I; De Casson, FB; Mathieu, E; Basle, MF; Chappard, D; Audran, M
      Osteoporosis in men: A potential role for the sex hormone binding globulin

      BONE
    6. Fujikawa, Y; Sabokbar, A; Neale, SD; Itonaga, I; Torisu, T; Athanasou, NA
      The effect of macrophage-colony stimulating factor and other humoral factors (interleukin-1,-3,-6, and-11, tumor necrosis factor-alpha, and granulocyte macrophage-colony stimulating factor) on human osteoclast formation fromcirculating cells

      BONE
    7. Wuyts, W; Van Wesenbeeck, L; Morales-Piga, A; Ralston, S; Hocking, L; Vanhoenacker, F; Westhovens, R; Verbruggen, L; Anderson, D; Hughes, A; Van Hul, W
      Evaluation of the role of RANK and OPG genes in Paget's disease of bone

      BONE
    8. Seregni, E; Ferrari, L; Martinetti, A; Bombardieri, E
      Diagnostic and prognostic tumor markers in the gastrointestinal tract

      SEMINARS IN SURGICAL ONCOLOGY
    9. Koch, C; Cuppens, H; Rainisio, M; Madessani, U; Harms, HK; Hodson, ME; Mastella, G; Navarro, J; Strandvik, B; McKenzie, SG
      European Epidemiologic Registry of Cystic Fibrosis (ERCF): Comparison of major disease manifestations between patients with different classes of mutations

      PEDIATRIC PULMONOLOGY
    10. Chagnon, YC; Rice, T; Perusse, L; Borecki, IB; Ho-Kim, MA; Lacaille, M; Pare, C; Bouchard, L; Gagnon, J; Leon, AS; Skinner, JS; Wilmore, JH; Rao, DC; Bouchard, C
      Genomic scan for genes affecting body composition before and after training in Caucasians from HERITAGE

      JOURNAL OF APPLIED PHYSIOLOGY
    11. Roth, SM; Schrager, MA; Ferrell, RE; Riechman, SE; Metter, EJ; Lynch, NA; Lindle, RS; Hurley, BF
      CNTF genotype is associated with muscular strength and quality in humans across the adult age span

      JOURNAL OF APPLIED PHYSIOLOGY
    12. Hernandez, OM; Housmans, PR; Potter, JD
      Plasticity in skeletal cardiac, and smooth muscle - Invited review: Pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation

      JOURNAL OF APPLIED PHYSIOLOGY
    13. Hughes, TJ; Hughes, ML; Caldwell, BD
      Molecular quantification of human beta-glucuronidase levels in a patient with Vohwinkel's syndrome

      JOURNAL OF THE AMERICAN PODIATRIC MEDICAL ASSOCIATION
    14. Ma, YF; Evans, DE; Logue, SJ; Langridge, P
      Mutations of barley beta-amylase that improve substrate-binding affinity and thermostability

      MOLECULAR GENETICS AND GENOMICS
    15. Matagne, RF; Baurain, D
      A mutation in the GTPase domain of the large subunit rRNA is involved in the suppression of a-1T frameshift mutation affecting a mitochondrial gene in Chlamydomonas reinhardtii

      MOLECULAR GENETICS AND GENOMICS
    16. Gellon, L; Barbey, R; van der Kemp, PA; Thomas, D; Boiteux, S
      Synergism between base excision repair, mediated by the DNA glycosylases Ntg1 and Ntg2, and nucleotide excision repair in the removal of oxidatively damaged DNA bases in Saccharomyces cerevisiae

      MOLECULAR GENETICS AND GENOMICS
    17. Udupa, SM; Baum, M
      High mutation rate and mutational bias at (TAA)(n) microsatellite loci in chickpea (Cicer arietinum L.)

      MOLECULAR GENETICS AND GENOMICS
    18. Tokarskaya, ON; Kan, NG; Petrosyan, VG; Martirosyan, IA; Grechko, VV; Danielyan, FD; Darevsky, IS; Ryskov, AP
      Genetic variation in parthenogenetic Caucasian rock lizards of the genus Lacerta (L-dahli, L-armeniaca, L-unisexualis) analyzed by DNA fingerprinting

      MOLECULAR GENETICS AND GENOMICS
    19. Nielsen, ML; Hermansen, TD; Aleksenko, A
      A family of DNA repeats in Aspergillus nidulans has assimilated degenerated retrotransposons

      MOLECULAR GENETICS AND GENOMICS
    20. Rozenfeld, S; Thuriaux, P
      Genetic interactions within TFIIIC, the promoter-binding factor of yeast RNA polymerase III

      MOLECULAR GENETICS AND GENOMICS
    21. Ibrahim, AFM; Watters, JA; Clark, GP; Thomas, CJR; Brown, JWS; Simpson, CG
      Expression of intron-containing GUS constructs is reduced due to activation of a cryptic 5 ' splice site

      MOLECULAR GENETICS AND GENOMICS
    22. Babudri, N; Pavlov, YI; Matmati, N; Ludovisi, C; Achilli, A
      Stationary-phase mutations in proofreading exonuclease-deficient strains of the yeast Saccharomyces cerevisiae

      MOLECULAR GENETICS AND GENOMICS
    23. Bures, EJ; Courchesne, PL; Douglass, J; Chen, K; Davis, MT; Jones, MT; Jones, MD; McGinley, MD; Robinson, JH; Spahr, CS; Sun, JL; Wahl, RC; Patterson, SD
      Identification of incompletely processed potential Carboxypeptidase E substrates from CpEfat/CpEfat mice

      PROTEOMICS
    24. Gutkowski, W; Iwanow, Z; Bauer, J
      Controlled mutation in evolutionary structural optimization

      STRUCTURAL AND MULTIDISCIPLINARY OPTIMIZATION
    25. Cho, YK; Sung, H; Lee, HJ; Joo, CH; Cho, GJ
      Long-term intake of Korean red ginseng in HIV-1-infected patients: development of resistance mutation to zidovudine is delayed

      INTERNATIONAL IMMUNOPHARMACOLOGY
    26. Pras, E; Pras, E; Bakhan, T; Levy-Nissenbaum, E; Lahat, H; Assia, EI; Garzozi, HJ; Kastner, DL; Goldman, B; Frydman, M
      A gene causing autosomal recessive cataract maps to the short arm of chromosome 3

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    27. Radu, P; Atsmon, J
      Gilbert's syndrome - Clinical and pharmacological implications

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    28. Sanlin-Pascual, RJ
      The role of the hypothalamic neuropeptides hypocretin/orexin in the sleep-wake cycle

      ISRAEL MEDICAL ASSOCIATION JOURNAL
    29. Turner, ND; Knapp, JR; Byers, FM; Kopchick, JJ
      Physical and mechanical characteristics of tibias from transgenic mice expressing mutant bovine growth hormone genes

      EXPERIMENTAL BIOLOGY AND MEDICINE
    30. Kudo, T; Ikeda, K; Oshima, T; Kure, S; Tammasaeng, M; Prasansuk, S; Matsubara, Y
      GJB2 (connexin 26) mutations and childhood deafness in Thailand

      OTOLOGY & NEUROTOLOGY
    31. Boulassel, MR; Tomasi, JP; Deggouj, N; Gersdorff, M
      COCH5B2 is a target antigen of anti-inner ear antibodies in autoimmune inner ear diseases

      OTOLOGY & NEUROTOLOGY
    32. Black, FO; Pesznecker, SC; Allen, K; Gianna, C
      A vestibular phenotype for Waardenburg syndrome?

      OTOLOGY & NEUROTOLOGY
    33. Liu, WM; Quinto, I; Chen, XN; Palmieri, C; Rabin, RL; Schwartz, OM; Nelson, DL; Scala, G
      Direct inhibition of Brurton's tyrosine kinase by IBtk, a Btk-binding protein

      NATURE IMMUNOLOGY
    34. Li, DH
      Molecular epidemiology of pancreatic cancer

      CANCER JOURNAL
    35. Watanabe, G; Kaganoi, J; Imamura, M; Shimada, Y; Itami, A; Uchida, S; Sato, F
      Progression of esophageal carcinoma by loss of EGF-STAT1 pathway

      CANCER JOURNAL
    36. Kind, JA; Winn, RN; Boerrigter, METI; Jagoe, CH; Glenn, TC; Dallas, CE
      Investigation of the radioadaptive response in brain and liver of pUR288 lacZ transgenic mice

      JOURNAL OF TOXICOLOGY AND ENVIRONMENTAL HEALTH-PART A
    37. Nicholls, RD; Knepper, JL
      Genome organization, function and imprinting in Prader-Willi and Angelman syndromes

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    38. Kwok, PY
      Methods for genotyping single nucleotide polymorphisms

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    39. Liatsos, C; Vlachogiannakos, J; Patch, D; Tibballs, J; Watkinson, A; Davidson, B; Rolles, K; Burroughs, AK
      Successful recanalization of portal vein thrombosis before liver transplantation using transjugular intrahepatic portosystemic shunt

      LIVER TRANSPLANTATION
    40. Barth, TFE; Bentz, M; Dohner, H; Moller, P
      Molecular aspects of B-cell lymphomas of the gastrointestinal tract

      CLINICAL LYMPHOMA
    41. Tucker, P; Laemle, L; Munson, A; Kanekar, S; Oliver, ER; Brown, N; Schlecht, H; Vetter, M; Glaser, T
      The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx/rax homeobox gene

      GENESIS
    42. Sumariwalla, VM; Klein, WH
      Similar myogenic functions for myogenin and MRF4 but not MyoD in differentiated murine embryonic stem cells

      GENESIS
    43. Xu, XL; Li, CL; Garrett-Beal, L; Larson, D; Wynshaw-Boris, A; Deng, CX
      Direct removal in the mouse of a flexed neo gene from a three-loxP conditional knockout allele by two novel approaches

      GENESIS
    44. Overbeek, PA; Gorlov, IP; Sutherland, RW; Houston, JB; Harrison, WR; Boettger-Tong, HL; Bishop, CE; Agoulnik, AI
      A transgenic insertion causing cryptorchidism in mice

      GENESIS
    45. Ruvinsky, A; Flood, WD; Costantini, F
      Developmental mosaicism may explain spontaneous reappearance of the Axin(Fu) mutation in mice

      GENESIS
    46. Chandler, J; Hohenstein, P; Swing, DA; Tessarollo, L; Sharan, SK
      Human BRCA1 gene rescues the embryonic lethality of Brca1 mutant mice

      GENESIS
    47. Kenneson, A; Warren, ST
      The female and the fragile X reviewed

      SEMINARS IN REPRODUCTIVE MEDICINE
    48. Clark, JM; Lee, SH; Kim, HJ; Yoon, KS; Zhang, AG
      DNA-based genotyping techniques for the detection of point mutations associated with insecticide resistance in Colorado potato beetle Leptinotarsa decemlineata

      PEST MANAGEMENT SCIENCE
    49. Miller, MD; Margot, NA; Lamy, PD; Fuller, MD; Anton, KE; Mulato, AS; Cherrington, JM
      Adefovir and tenofovir susceptibilities of HIV-1 after 24 to 48 weeks of adefovir dipivoxil therapy: Genotypic and phenotypic analyses of study GS-96-408

      JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES
    50. Lu, J; Kuritzkes, DR
      A novel recombinant marker virus assay for comparing the relative fitness of HIV-1 reverse transcriptase variants

      JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES
    51. Duwe, S; Brunn, M; Altmann, D; Hamouda, O; Schmidt, B; Walter, H; Pauli, G; Kucherer, C
      Frequency of genotypic and phenotypic drug-resistant HIV-1 among therapy-naive patients of the German Seroconverter Study

      JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES
    52. Inoue, N; Dong, R; Hirata, RK; Russell, DW
      Introduction of single base substitutions at homologous chromosomal sequences by adeno-associated virus vectors

      MOLECULAR THERAPY
    53. Kosuga, M; Sasaki, K; Tanabe, A; Li, XK; Okawa, H; Ogino, I; Okuda, O; Arai, H; Sakuragawa, N; Kamata, Y; Azuma, N; Suzuki, S; Yamada, M; Okuyama, T
      Engraftment of genetically engineered amniotic epithelial cells corrects lysosomal storage in multiple areas of the brain in mucopolysaccharidosis type VII mice

      MOLECULAR THERAPY
    54. Liang, FQ; Dejneka, NS; Cohen, DR; Krasnoperova, NV; Lem, J; Maguire, AM; Dudus, L; Fisher, KJ; Bennett, J
      AAV-mediated delivery of ciliary neurotrophic factor prolongs photoreceptor survival in the rhodopsin knockout mouse

      MOLECULAR THERAPY
    55. Pirrung, MC; Wang, LX; Montague-Smith, MP
      3 '-nitrophenylpropyloxycarbonyl (NPPOC) protecting groups for high-fidelity automated 5 ' -> 3 ' photochemical DNA synthesis

      ORGANIC LETTERS
    56. Cerrato, JA; Yung, WKA; Liu, TJ
      Introduction of mutant p53 into a wild-type p53-expressing glioma cell line confers sensitivity to Ad-p53-induced apoptosis

      NEURO-ONCOLOGY
    57. Marsh, DJ; Theodosopoulos, G; Howell, V; Richardson, AL; Benn, DE; Proos, AL; Eng, C; Robinson, BG
      Rapid mutation scanning of genes associated with familial cancer syndromesusing denaturing high-performance liquid chromatography

      NEOPLASIA
    58. Goodeve, A; Peake, I
      A standard nomenclature for von Willebrand factor gene mutations and polymorphisms

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    59. Rodeghiero, F; Castaman, G
      Congenital von Willebrand disease type I: definition, phenotypes, clinicaland laboratory assessment

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    60. Meyer, D; Fressinaud, E; Hilbert, L; Ribba, AS; Lavergne, JM; Mazurier, C
      Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    61. Eikenboom, JCJ
      Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology

      BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY
    62. Owen, K; Hattersley, AT
      Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    63. Thakker, RV
      Molecular genetics and patient management of multiple endocrine neoplasia type I

      BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
    64. Kenny, TP; Semrad, TJ; Malyj, W; Robbins, DL
      Mutational analysis of immunoglobulin germline derived V lambda 4B light chains in rheumatoid arthritis

      CLINICAL IMMUNOLOGY
    65. Duplantier, JE; Seyama, K; Day, NK; Hitchcock, R; Nelson, RP; Ochs, HD; Haraguchi, S; Klemperer, MR; Good, RA
      Immunologic reconstitution following bone marrow transplantation for X-linked hyper IgM syndrome

      CLINICAL IMMUNOLOGY
    66. Bowen, B; Hawk, JJ; Sibunka, S; Hovick, S; Weiler, JM
      A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations

      CLINICAL IMMUNOLOGY
    67. Martin, K; Heinzlmann, M; Borchers, R; Mack, M; Loeschke, K; Folwaczny, C
      Delta 32 mutation of the chemokine-receptor 5 gene in inflammatory bowel disease

      CLINICAL IMMUNOLOGY
    68. Watkins, H
      Hypertrophic cardiomyopathy: from molecular and genetic mechanisms to clinical management

      EUROPEAN HEART JOURNAL SUPPLEMENTS
    69. Schulze-Bahr, E; Haverkamp, W; Eckardt, L; Kirchhof, P; Wedekind, H; Breithardt, G
      Genetic aspects in acquired long QT syndrome - a piece in the puzzle

      EUROPEAN HEART JOURNAL SUPPLEMENTS
    70. Yampolsky, LY; Stoltzfus, A
      Bias in the introduction of variation as an orienting factor in evolution

      EVOLUTION & DEVELOPMENT
    71. Craig, A; Hastings, I; Pain, A; Roberts, DJ
      Genetics and malaria - more questions than answers

      TRENDS IN PARASITOLOGY
    72. Kanazawa, I
      How do neurons die in neurodegenerative diseases?

      TRENDS IN MOLECULAR MEDICINE
    73. Sanoudou, D; Beggs, AH
      Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments

      TRENDS IN MOLECULAR MEDICINE
    74. Hegele, RA
      Molecular basis of partial lipodystrophy and prospects for therapy

      TRENDS IN MOLECULAR MEDICINE
    75. Klonowski, KD; Monestier, M
      Ig heavy-chain gene revision: leaping towards autoimmunity

      TRENDS IN IMMUNOLOGY
    76. Alavi, JB; Eck, SL
      Gene therapy for high grade gliomas

      EXPERT OPINION ON BIOLOGICAL THERAPY
    77. Lai, LW; Lien, YHH
      Therapeutic application of chimeric RNA/DNA oligonucleotide based gene therapy

      EXPERT OPINION ON BIOLOGICAL THERAPY
    78. Thien, CBF; Langdon, WY
      Cbl: Many adaptations to regulate protein tyrosine kinases

      NATURE REVIEWS MOLECULAR CELL BIOLOGY
    79. Rosenberg, SM
      Evolving responsively: Adaptive mutation

      NATURE REVIEWS GENETICS
    80. Eyre-Walker, A; Hurst, LD
      The evolution of isochores

      NATURE REVIEWS GENETICS
    81. Greenspan, RJ
      Opinion - The flexible genome

      NATURE REVIEWS GENETICS
    82. Andersson, L
      Genetic dissection of phenotypic diversity in farm animals

      NATURE REVIEWS GENETICS
    83. Lawrence, PA
      Science or alchemy?

      NATURE REVIEWS GENETICS
    84. Syvanen, AC
      Accessing genetic variation: Genotyping single nucleotide polymorphisms

      NATURE REVIEWS GENETICS
    85. Ostrer, H
      A genetic profile of contemporary Jewish populations

      NATURE REVIEWS GENETICS
    86. McNaught, KSP; Olanow, CW; Halliwell, B; Isacson, O; Jenner, P
      Failure of the ubiquitin-proteasome system in Parkinson's disease

      NATURE REVIEWS NEUROSCIENCE
    87. Sharma, A; James, M; Donaldson, A; Fox, R
      Hereditary non-polyposis colorectal cancer syndrome: combined risk of gastrointestinal and gynaecological cancer

      BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
    88. Lindqvist, PG; Gudmundsson, S
      Maternal carriership of factor V Leiden associated with pathological uterine artery Doppler measurements during pregnancy

      BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
    89. Andersen, PM; Spitsyn, VA; Makarov, SV; Nilsson, L; Kravchuk, OI; Bychkovskaya, LS; Marklund, SL
      The geographical and ethnic distribution of the D90A CuZn-SOD mutation in the Russian Federation

      AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
    90. Swash, M
      ALS 2000: the past points to the future

      AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
    91. Andersen, PM
      Genetics of sporadic ALS

      AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
    92. Scanlin, TF; Glick, MC
      Glycosylation and the cystic fibrosis transmembrane conductance regulator

      RESPIRATORY RESEARCH
    93. Geraci, MW; Gao, BF; Hoshikawa, Y; Yeager, ME; Tuder, RM; Voelkel, NF
      Genomic approaches to research in pulmonary hypertension

      RESPIRATORY RESEARCH
    94. Hemmingsen, A; Fryer, AA; Hepple, M; Strange, RC; Spiteri, MA
      Simultaneous identification of GSTP1 Ile105 -> Val105 and Ala114 -> Val114substitutions using an amplification refractory mutation system polymerasechain reaction assay: studies in patients with asthma

      RESPIRATORY RESEARCH
    95. Reddi, AH
      Interplay between bone morphogenetic proteins and cognate binding proteinsin bone and cartilage development: noggin, chordin and DAN

      ARTHRITIS RESEARCH
    96. Armogida, M; Petit, A; Vincent, B; Scarzello, S; da Costa, CA; Checler, F
      Endogenous beta-amyloid production in presenilin-deficient embryonic mousefibroblasts

      NATURE CELL BIOLOGY
    97. Berx, G; Van Roy, F
      The E-cadherin/catenin complex: an important gatekeeper in breast cancer tumorigenesis and malignant progression

      BREAST CANCER RESEARCH
    98. Tomlinson, IPM
      Mutations in normal breast tissue and breast tumours

      BREAST CANCER RESEARCH
    99. Marsh, A; Spurdle, AB; Turner, BC; Fereday, S; Thorne, H; Pupo, GM; Mann, GJ; Hopper, JL; Sambrook, JF; Chenevix-Trench, G
      The intronic G13964C variant in p53 is not a high-risk mutation in familial breast cancer in Australia

      BREAST CANCER RESEARCH
    100. Huang, XE; Hamajima, N; Saito, T; Matsuo, K; Mizutani, M; Iwata, H; Iwase, T; Miura, S; Mizuno, T; Tokudome, S; Tajima, K
      Possible association of beta(2)- and beta(3)-adrenergic receptor gene polymorphisms with susceptibility to breast cancer

      BREAST CANCER RESEARCH


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Documento generato il 05/08/20 alle ore 04:42:41