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La ricerca find articoli where authors phrase all words ' COX TM' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 76 riferimenti
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    1. Cox, TM
      Gaucher's disease - an exemplary monogenic disorder

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    2. Platt, FM; Jeyakumar, M; Andersson, U; Priestman, DA; Dwek, RA; Butters, TD; Cox, TM; Lachmann, RH; Hollak, C; Aerts, JMFG; Van Weely, S; Hrebicek, M; Moyses, C; Gow, I; Elstein, D; Zimran, A
      Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

      JOURNAL OF INHERITED METABOLIC DISEASE
    3. Cox, TM
      Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses

      JOURNAL OF INHERITED METABOLIC DISEASE
    4. Kelly, AL; Lunt, PW; Rodrigues, F; Berry, PJ; Flynn, DM; McKiernan, PJ; Kelly, DA; Mieli-Vergani, G; Cox, TM
      Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in ironmetabolism

      JOURNAL OF MEDICAL GENETICS
    5. Hayman, AR; Macary, P; Lehner, PJ; Cox, TM
      Tartrate-resistant acid phosphatase (Acp 5): Identification in diverse human tissues and dendritic cells

      JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
    6. Bune, AJ; Hayman, AR; Evans, MJ; Cox, TM
      Mice lacking tartrate-resistant acid phosphatase (Acp 5) have disordered macrophage inflammatory responses and reduced clearance of the pathogen, Staphylococcus aureus

      IMMUNOLOGY
    7. Griffiths, WJH; Sly, WS; Cox, TM
      Intestinal iron uptake determined by divalent metal transporter is enhanced in HFE-deficient mice with hemochromatosis

      GASTROENTEROLOGY
    8. Griffiths, WJH; Kelly, AL; Smith, SJ; Cox, TM
      Localization of iron transport and regulatory proteins in human cells

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    9. Lachmann, RH; Wight, DGD; Lomas, DJ; Fisher, NC; Schofield, JP; Elias, E; Cox, TM
      Massive hepatic fibrosis in Gaucher's disease: Clinicopathological and radiological features

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    10. Cox, TM; Mason, B
      Interest groups and the development of tripartism in east central Europe

      EUROPEAN JOURNAL OF INDUSTRIAL RELATIONS
    11. Hayman, AR; Bune, AJ; Bradley, JR; Rashbass, J; Cox, TM
      Osteoclastic tartrate-resistant acid phosphatase (Acp 5): Its localizationto dendritic cells and diverse murine tissues

      JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY
    12. Rellos, P; Sygusch, J; Cox, TM
      Expression, purification, and characterization of natural mutants of humanaldolase B - Role of quaternary structure in catalysis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    13. Hayman, AR; Bune, AJ; Cox, TM
      Widespread expression of tartrate-resistant acid phosphatase (Acp 5) in the mouse embryo

      JOURNAL OF ANATOMY
    14. Robson, KJH; Merryweather-Clark, AT; Pointon, JJ; Shearman, JD; Halsall, DJ; Kelly, A; Cox, TM; Rosenberg, WM; Howell, M; Eccles, D; Patch, C; Fowler, AV; Wallace, DF; Camaschella, C; Roetto, A; Zecchina, G; De Gobbi, M; Gasparini, P; Cadet, E; Vandwalle, JL; Capron, D; Rochette, J; Borot, N; Demangel, C; Dery, R; Vinel, JP; Pascal, JP; Coppin, H; Roth, MP
      Diagnosis and management of haemochromatosis since the discovery of the HFE gene: A European experience

      BRITISH JOURNAL OF HAEMATOLOGY
    15. Moran, MT; Schofield, JP; Hayman, AR; Shi, GP; Young, E; Cox, TM
      Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K

      BLOOD
    16. Cox, TM
      Mendel and his legacy

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    17. Griffiths, WJH; Kelly, AL; Cox, TM
      Inherited disorders of iron storage and transport

      MOLECULAR MEDICINE TODAY
    18. Merryweather-Clarke, AT; Pointon, JJ; Shearman, JD; Robson, KJH; Jouanolle, AM; Mosser, A; David, V; Le Gall, JY; Halsall, DJ; Elsey, TS; Kelly, A; Cox, TM; Clare, M; Bomford, A; Vandwalle, JL; Rochette, J; Borot, N; Coppin, H; Roth, MP; Ryan, E; Crowe, J; Totaro, A; Gasparini, P; Roetto, A; Gamaschella, C; Darke, C; Wallace, DF; Saeb-Parsy, K; Dooley, JS; Worwood, M; Walker, AP
      Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

      NATURE GENETICS
    19. Schofield, JP; Cox, TM; Caskey, CT; Wakamiya, M
      Mice deficient in the urea-cycle enzyme, carbamoyl phosphate synthetase I,die during the early neonatal period from hyperammonemia

      HEPATOLOGY
    20. Rellos, P; Ali, M; Vidailhet, M; Sygusch, J; Cox, TM
      Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala(337) -> Val) in fructose intolerance

      BIOCHEMICAL JOURNAL
    21. Cox, TM
      The academic clinician

      JOURNAL OF THE ROYAL COLLEGE OF PHYSICIANS OF LONDON
    22. Roetto, A; Totaro, A; Cazzola, M; Cicilano, M; Bosio, S; D'Ascola, G; Carella, M; Zelante, L; Kelly, AL; Cox, TM; Gasparini, P; Camaschella, C
      Juvenile hemochromatosis locus maps to chromosome 1q

      AMERICAN JOURNAL OF HUMAN GENETICS
    23. KELLY AL; RHODES DA; ROLAND JM; SCHOFIELD P; COX TM
      HEREDITARY JUVENILE HEMOCHROMATOSIS - A GENETICALLY HETEROGENEOUS LIFE-THREATENING IRON-STORAGE DISEASE

      QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS
    24. COX TM; KELLY AL
      HEMOCHROMATOSIS - AN INHERITED METAL AND TOXICITY SYNDROME

      Current opinion in genetics & development
    25. WESTGATE AJ; READ AJ; COX TM; SCHOFIELD TD; WHITAKER BR; ANDERSON KE
      MONITORING A REHABILITATED HARBOR PORPOISE USING SATELLITE TELEMETRY

      Marine mammal science
    26. Cox, TM; Norris, PGN
      The treatment of erythropoietic protoporphyria - Response

      SEMINARS IN LIVER DISEASE
    27. Cox, TM; Alexander, GJM; Sarkany, RPE
      Protoporphyria

      SEMINARS IN LIVER DISEASE
    28. COX TM; READ AJ; BARCO S; EVANS J; GANNON DP; KOOPMAN HN; MCLELLAN WA; MURRAY K; NICOLAS J; PABST DA; POTTER CW; SWINGLE WM; THAYER VG; TOUHEY KM; WESTGATE AJ
      DOCUMENTING THE BYCATCH OF HARBOR PORPOISES, PHOCOENA-PHOCOENA, IN COASTAL GILLNET FISHERIES FROM STRANDED CARCASSES

      Fishery bulletin
    29. ALI M; RELLOS P; COX TM
      HEREDITARY FRUCTOSE INTOLERANCE

      Journal of Medical Genetics
    30. ALLEN MJ; MYER BJ; KHOKHER AM; RUSHTON N; COX TM
      PRO-INFLAMMATORY CYTOKINES AND THE PATHOGENESIS OF GAUCHERS-DISEASE -INCREASED RELEASE OF INTERLEUKIN-6 AND INTERLEUKIN-10

      Quarterly Journal of Medicine
    31. COX TM
      ENCYCLOPEDIAS AND TEXTBOOKS ON MOLECULAR MEDICINE

      Molecular medicine today
    32. COX TM; SCHOFIELD JP
      GAUCHERS-DISEASE - CLINICAL-FEATURES AND NATURAL-HISTORY

      Bailliere's clinical haematology
    33. NI JF; QIU YH; COX TM; JONES CA; BERRY C; MELON L; BOTT S
      CARBON-DIOXIDE CHEMISTRY - CHARACTERIZATION OF THE CARBON-DIOXIDE REACTION-PRODUCT OF A DINUCLEAR TITANIUM COMPLEX (VOL 15, PG 4669, 1996)

      Organometallics
    34. KING TS; ANDERSON JR; WRAIGHT EP; HUNTER JO; COX TM
      SKELETAL-MUSCLE WEAKNESS AND DYSPHAGIA CAUSED BY ACID MALTASE DEFICIENCY - NUTRITIONAL CONSEQUENCES OF COINCIDENT CELIAC SPRUE

      JPEN. Journal of parenteral and enteral nutrition
    35. SMITH SJ; COX TM
      TRANSLATIONAL CONTROL OF ERYTHROID DELTA-AMINOLEVULINATE SYNTHASE IN IMMATURE HUMAN ERYTHROID-CELLS BY HEME

      Cellular and molecular biology
    36. BYRNE CD; BERMANN L; CONSTANT C; COX TM
      PATHOLOGICAL BONE-FRACTURES PRECEDED BY SUSTAINED HYPERCALCEMIA IN TYPE-1 GAUCHER-DISEASE

      Journal of inherited metabolic disease
    37. COX TM
      ERYTHROPOIETIC PROTOPORPHYRIA

      Journal of inherited metabolic disease
    38. JOHNSON GVW; SEUBERT P; COX TM; MOTTER R; BROWN JP; GALASKO D
      THE TAU-PROTEIN IN HUMAN CEREBROSPINAL-FLUID IN ALZHEIMERS-DISEASE CONSISTS OF PROTEOLYTICALLY DERIVED FRAGMENTS

      Journal of neurochemistry
    39. RHODES DA; RAHACHOWDHURY R; COX TM; TROWSDALE J
      HOMOZYGOSITY FOR THE PREDOMINANT CYS282TYR MUTATION AND ABSENCE OF DISEASE EXPRESSION IN HEREDITARY HEMOCHROMATOSIS

      Journal of Medical Genetics
    40. JOHNSON GVW; COX TM; LOCKHART JP; ZINNERMAN MD; MILLER ML; POWERS RE
      TRANSGLUTAMINASE ACTIVITY IS INCREASED IN ALZHEIMERS-DISEASE BRAIN

      Brain research
    41. ALI M; JAMES CL; COX TM
      A NEWLY IDENTIFIED ALDOLASE-B SPLICING MUTATION (G-]C, 5'-INTRON-5) IN HEREDITARY FRUCTOSE INTOLERANCE FROM NEW-ZEALAND

      Human mutation
    42. HAYMAN AR; JONES SJ; BOYDE A; FOSTER D; COLLEDGE WH; CARLTON MB; EVANS MJ; COX TM
      MICE LACKING TARTRATE-RESISTANT ACID-PHOSPHATASE (ACP-5) HAVE DISRUPTED ENDOCHONDRAL OSSIFICATION AND MILD OSTEOPETROSIS

      Development
    43. HAYMAN AR; JONES SJ; BOYDE A; FOSTER D; COLLEDGE WH; CARLTON MB; EVANS MJ; COX TM
      TARTRATE-RESISTANT ACID-PHOSPHATASE DEFICIENT MICE HAVE DEFECTIVE OSTEOCLAST FUNCTION AND DEVELOP LATE-ONSET OSTEOPETROSIS

      Journal of bone and mineral research
    44. NI JF; QIU YH; COX TM; JONES CA; BERRY C; MELON L; BOTT S
      CARBON-DIOXIDE CHEMISTRY - CHARACTERIZATION OF THE CARBON-DIOXIDE REACTION-PRODUCT OF A DINUCLEAR TITANIUM COMPLEX

      Organometallics
    45. SARKANY RPE; COX TM
      LIVER-FAILURE IN ERYTHROPOIETIC PROTOPORPHYRIA

      Journal of the American Academy of Dermatology
    46. MISTRY PK; WRAIGHT EP; COX TM
      THERAPEUTIC DELIVERY OF PROTEINS TO MACROPHAGES - IMPLICATIONS FOR TREATMENT OF GAUCHERS-DISEASE

      Lancet
    47. MCCABE ERB; FINE BA; GOLBUS MS; GREENHOUSE JB; MCGRATH GL; NEW M; OBRIEN WE; ROWLEY PT; SLY WS; SPENCE MA; STOCKMAN JA; WHYTE M; WILSON W; WOLF B; AERTS JMFG; BARRANGER JA; BARTON NW; BEUTLER E; BRADY RO; COX TM; EKSTEIN J; ENG CM; ERIKSON A; FINDLING DM; GARBER AM; GINNS EI; GRABOWSKI GA; HILL SC; HOLLACK CEM; KABACK MM; LEE RE; MANKIN HJ; MISTRY PK; MOSCICKI RA; MURRAY GJ; NATOWICZ M; PASTORES GM; MIRANDA MCS; SIDRANSKY E; WARE JE; WILLEMSEN R; ZAIZOV R; ZIMRAN A; BEITINS IZ; BERMAN RE; ELLIOTT JM; FERGUSON JH; HALL WH; MCKEON C; NITKIN RM; SCHLESINGER SL; SHERIDAN PH; WEEKS M; COWDRY RW; ALEXANDER DF; GORDEN P; HALL ZW; VAITUKAITIS JL; COLLINS FS; GROFT S
      GAUCHER DISEASE - CURRENT ISSUES IN DIAGNOSIS AND TREATMENT

      JAMA, the journal of the American Medical Association
    48. JAMES CL; RELLOS P; ALI M; HEELEY AF; COX TM
      NEONATAL SCREENING FOR HEREDITARY FRUCTOSE INTOLERANCE - FREQUENCY OFTHE MOST COMMON MUTANT ALDOLASE-B ALLELE (A149P) IN THE BRITISH POPULATION

      Journal of Medical Genetics
    49. SARKANY RPE; COX TM
      AUTOSOMAL RECESSIVE ERYTHROPOIETIC PROTOPORPHYRIA - A SYNDROME OF SEVERE PHOTOSENSITIVITY AND LIVER-FAILURE

      Quarterly Journal of Medicine
    50. COX TM
      THERAPEUTIC USE OF FRUCTOSE - PROFESSIONAL FREEDOM, PHARMACOVIGILANCEAND EUROPE

      Quarterly Journal of Medicine
    51. COX TM
      COST-EFFECTIVENESS CONTROVERSY

      PharmacoEconomics
    52. HAYMAN AR; FOSTER D; COLLEDGE WH; EVANS MJ; COX TM
      TARTRATE-RESISTANT ACID-PHOSPHATASE IS ESSENTIAL FOR NORMAL BONE-DEVELOPMENT IN THE MOUSE

      Journal of bone and mineral research
    53. RHODES DA; WHITCOMBE DM; WOODWARD E; COX TM
      HEREDITARY HEMOCHROMATOSIS - PHYSICAL AND GENETIC-MAPPING OF THE CANDIDATE DISEASE REGION

      Journal of cellular biochemistry
    54. MISTRY PK; WRAIGHT EP; COX TM
      UPTAKE AND METABOLISM IN-VIVO, OF MACROPHAGE TARGETED GLUCOCEREBROSIDASE IN GAUCHER-DISEASE

      Hepatology
    55. CHEEVER AW; FINKELMAN FD; COX TM
      ANTI-INTERLEUKIN-4 TREATMENT DIMINISHES SECRETION OF TH2 CYTOKINES AND INHIBITS HEPATIC-FIBROSIS IN MURINE SCHISTOSOMIASIS-JAPONICA

      Parasite immunology
    56. CHAMBERLAIN P; COMPSTON J; COX TM; HAYMAN AR; IMRIE RC; REYNOLDS K; HOLMES SD
      GENERATION AND CHARACTERIZATION OF MONOCLONAL-ANTIBODIES TO HUMAN TYPE-5 TARTRATE-RESISTANT ACID-PHOSPHATASE - DEVELOPMENT OF A SPECIFIC IMMUNOASSAY OF THE ISOENZYME IN SERUM

      Clinical chemistry
    57. ALI M; COX TM
      DIVERSE MUTATIONS IN THE ALDOLASE-B GENE THAT UNDERLIE THE PREVALENCEOF HEREDITARY FRUCTOSE INTOLERANCE

      American journal of human genetics
    58. ALI M; SEBASTIO G; COX TM
      IDENTIFICATION OF A NOVEL MUTATION (LEU256-]PRO) IN THE HUMAN ALDOLASE B GENE ASSOCIATED WITH HEREDITARY FRUCTOSE INTOLERANCE (VOL 3, PG 203, 1994)

      Human molecular genetics
    59. ALI M; SEBASTIO G; COX TM
      IDENTIFICATION OF A NOVEL MUTATION (LEU 256-]PRO) IN THE HUMAN ALDOLASE-B GENE ASSOCIATED WITH HEREDITARY FRUCTOSE INTOLERANCE

      Human molecular genetics
    60. COX TM
      ALDOLASE-B AND FRUCTOSE INTOLERANCE

      The FASEB journal
    61. WHITCOMBE DM; ALBERTSON DG; COX TM
      MOLECULAR ANALYSIS OF FUNCTIONAL AND NONFUNCTIONAL GENES FOR HUMAN FERROCHELATASE - ISOLATION AND CHARACTERIZATION OF A FECH PSEUDOGENE ANDITS SUBLOCALIZATION ON CHROMOSOME-3

      Genomics
    62. SARKANY RPE; ALEXANDER GJM; COX TM
      RECESSIVE INHERITANCE OF ERYTHROPOIETIC PROTOPORPHYRIA WITH LIVER-FAILURE

      Lancet
    63. SARKANY RPE; ALEXANDER GJMA; COX TM
      RECESSIVE INHERITANCE OF ERYTHROPOIETIC PROTOPORPHYRIA WITH LIVER-FAILURE

      Lancet
    64. ALI M; TUNCMAN G; CROSS NCP; VIDAILHET M; BOKESOY I; GITZELMANN R; COX TM
      NULL ALLELES OF THE ALDOLASE-B GENE IN PATIENTS WITH HEREDITARY FRUCTOSE INTOLERANCE

      Journal of Medical Genetics
    65. SARKANY RPE; WHITCOMBE DM; COX TM
      MOLECULAR CHARACTERIZATION OF A FERROCHELATASE GENE DEFECT CAUSING ANOMALOUS RNA SPLICING IN ERYTHROPOIETIC PROTOPORPHYRIA

      Journal of investigative dermatology
    66. CHEEVER AW; WILLIAMS ME; WYNN TA; FINKELMAN FD; SEDER RA; COX TM; HIENY S; CASPAR P; SHER A
      ANTI-IL-4 TREATMENT OF SCHISTOSOMA-MANSONI-INFECTED MICE INHIBITS DEVELOPMENT OF T-CELLS AND NON-B, NON-T CELLS EXPRESSING TH2 CYTOKINES WHILE DECREASING EGG-INDUCED HEPATIC-FIBROSIS

      The Journal of immunology
    67. HAYMAN AR; COX TM
      PURPLE ACID-PHOSPHATASE OF THE HUMAN MACROPHAGE AND OSTEOCLAST - CHARACTERIZATION, MOLECULAR-PROPERTIES, AND CRYSTALLIZATION OF THE RECOMBINANT DI-IRON-OXO PROTEIN SECRETED BY BACULOVIRUS-INFECTED INSECT CELLS

      The Journal of biological chemistry
    68. WHITCOMBE DM; COX TM
      DINUCLEOTIDE REPEAT POLYMORPHISM AT THE LOCUS FOR HUMAN FERROCHELATASE (FECH)

      Human molecular genetics
    69. ROSIEN U; COX TM; ALI M; DIGNASS A; DAUL A; LAYER P; HAGER W
      ACUTE HEPATORENAL FAILURE IN HEREDITARY F RUCTOSE INTOLERANCE

      Medizinische Klinik
    70. COX TM
      GAUCHERS-DISEASE - A BRAND LEADER

      Lancet
    71. COX TM; WAKEFORD R
      THE MB PHD PROGRAM - TRAINING TO BE A CLINICIAN-SCIENTIST IN THE UK

      Journal of the Royal College of Physicians of London
    72. MISTRY PK; COX TM
      THE GLUCOCEREBROSIDASE LOCUS IN GAUCHERS-DISEASE - MOLECULAR ANALYSISOF A LYSOSOMAL-ENZYME

      Journal of Medical Genetics
    73. REARDON DM; SEYMOUR CA; COX TM; PINDER JC; SCHOFIELD AE; TANNER MJA
      HEREDITARY OVALOCYTOSIS WITH COMPENSATED HEMOLYSIS

      British Journal of Haematology
    74. COX TM
      IATROGENIC DEATHS IN HEREDITARY FRUCTOSE INTOLERANCE

      Archives of Disease in Childhood
    75. ANDRADE ZA; COX TM; CHEEVER AM
      REGRESSION OF HEPATIC-LESIONS AFTER TREATMENT OF SCHISTOSOMA-MANSONI OR SCHISTOSOMA-JAPONICUM INFECTION IN MICE - A COMPARATIVE-STUDY

      The American journal of tropical medicine and hygiene
    76. CHEEVER AW; ELTOUM IA; ANDRADE ZA; COX TM
      BIOLOGY AND PATHOLOGY OF SCHISTOSOMA-MANSONI AND SCHISTOSOMA-JAPONICUM INFECTIONS IN SEVERAL STRAINS OF NUDE-MICE

      The American journal of tropical medicine and hygiene


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Documento generato il 15/01/21 alle ore 23:19:24