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    1. Bassett, ML
      Haemochromatosis: iron still matters

      INTERNAL MEDICINE JOURNAL
    2. Eksandh, L; Ekstrom, U; Abrahamson, M; Bauer, B; Andreasson, S
      Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    3. Moretto, A; Gardiman, G; Panfilo, S; Colle, MA; Lock, EA; Lotti, M
      Effects of S-ethyl hexahydro-1H-azepine-1-carbothioate (molinate) on di-n-butyl dichlorovinyl phosphate (DBDCVP) neuropathy

      TOXICOLOGICAL SCIENCES
    4. Sachot, S; Moirand, R; Jouanolle, AM; Mosser, J; Fergelot, P; Deugnier, Y; Brissot, P; le Gall, JY; David, V
      Low penetrant hemochromatosis phenotype in eight families: No evidence of modifiers in the MHC region

      BLOOD CELLS MOLECULES AND DISEASES
    5. Ines, LS; da Silva, JAP; Malcata, AB; Porto, AL
      Arthropathy of genetic hemochromatosis: A major and distinctive manifestation of the disease

      CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
    6. Citera, G; Padulo, LA; Fernandez, G; Lazaro, MA; Rosemffet, MG; Cocco, JAM
      Influence of HLA-DR alleles on rheumatoid arthritis: Susceptibility and severity in Argentine patients

      JOURNAL OF RHEUMATOLOGY
    7. Orstavik, K; Heier, MS; Young, P; Stogbauer, F
      Brachial plexus involvement as the only expression of hereditary neuropathy with liability to pressure palsies

      MUSCLE & NERVE
    8. Sproule, TJ; Jazwinska, EC; Britton, RS; Bacon, BR; Fleming, RE; Sly, WS; Roopenian, DC
      Naturally variant autosomal and sex-linked loci determine the severity of iron overload in beta(2)-microglobulin-deficient mice

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    9. Fleming, RE; Holden, CC; Tomatsu, S; Waheed, A; Brunt, EM; Britton, RS; Bacon, BR; Roopenian, DC; Sly, WS
      Mouse strain differences determine severity of iron accumulation in Hfe knockout model of hereditary hemochromatosis

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    10. Best, LG; Harris, PE; Spriggs, EL
      Hemochromatosis mutations C282Y and H63D in 'cis' phase

      CLINICAL GENETICS
    11. Pallos, D; Hart, PS; Cortelli, JR; Vian, S; Wright, JT; Korkko, J; Brunoni, D; Hart, TC
      Novel COL1A1 mutation (G599C) associated with mild osteogenesis imperfectaand dentinogenesis imperfecta

      ARCHIVES OF ORAL BIOLOGY
    12. Aharon-Peretz, J; Kliot, D; Tomer, R
      Behavioral differences between white matter lacunar dementia and Alzheimer's disease: A comparison on the neuropsychiatric inventory

      DEMENTIA AND GERIATRIC COGNITIVE DISORDERS
    13. Bertolini, S; Cantafora, A; Averna, M; Cortese, C; Motti, C; Martini, S; Pes, G; Postiglione, A; Stefanutti, C; Blotta, I; Pisciotta, L; Rolleri, M; Langheim, S; Ghisellini, M; Rabbone, I; Calandra, S
      Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    14. Blaha, T
      The "colorful" epidemiology of PRRS

      VETERINARY RESEARCH
    15. Basseres, DS; Bordin, S; Costa, FF; Saad, STO
      Association of the alpha-spectrin R28H mutation with allele alpha(LELY) and with alpha I/alpha II domain haplotypes in three Brazilian families

      EUROPEAN JOURNAL OF HAEMATOLOGY
    16. Horak, HA; Pourmand, R
      Endocrine myopathies

      NEUROLOGIC CLINICS
    17. Moretto, A
      Promoters and promotion of axonopathies

      TOXICOLOGY LETTERS
    18. Caksen, H; Kurtoglu, S
      A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation

      ACTA NEUROLOGICA BELGICA
    19. Crawford, DHG; Hickman, P
      Screening for hemochromatosis

      HEPATOLOGY
    20. Szabo, Z; Szilasi, M; Brugos, L; Szanto, S; Kovacs, I; Szeles, M; Lakos, G; Antal-Szalmas, P; Edes, I; Sipka, S
      Differences in the changes of allergen-specific IgE serum levels and the chemiluminescence of peripheral blood phagocytes in patients with allergic rhinoconjunctivitis during the ragweed season

      IMMUNOLOGY LETTERS
    21. Bell, H; Berg, JP; Undlien, DE; Distante, S; Raknerud, N; Heier, HE; Try, K; Thomassen, Y; Haug, E; Raha-Chowdhury, R; Thorsby, E
      The clinical expression of hemochromatosis in Oslo, Norway - Excessive oral iron intake may lead to secondary hemochromatosis even in HFE C282Y mutation negative subjects

      SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY
    22. Anderson, GJ; Powell, LW
      Of metals, mice, and men: what animal models can teach us about body iron loading

      JOURNAL OF CLINICAL INVESTIGATION
    23. Levy, JE; Montross, LK; Andrews, NC
      Genes that modify the hemochromatosis phenotype in mice

      JOURNAL OF CLINICAL INVESTIGATION
    24. Ho, CY; Lever, HM; DeSanctis, R; Farver, CF; Seidman, JG; Seidman, CE
      Homozygous mutation in cardiac troponin T - Implications for hypertrophic cardiomyopathy

      CIRCULATION
    25. Lin, TL; Ichihara, S; Yamada, Y; Nagasaka, T; Ishihara, H; Nakashima, N; Yokota, M
      Phenotypic variation of familial hypertrophic: cardiomyopathy caused by the Phe110 -> IIe mutation in cardiac troponin T

      CARDIOLOGY
    26. King, MJ; Behrens, J; Rogers, C; Flynn, C; Greenwood, D; Chambers, K
      Rapid flow cytometric test for the diagnosis of membrane cytoskeleton-associated haemolytic anaemia

      BRITISH JOURNAL OF HAEMATOLOGY
    27. Hoeltzenbein, M; Karow, T; Zeller, JA; Warzok, R; Wulff, K; Zschiesche, M; Herrmann, FH; Grosse-Heitmeyer, W; Wehnert, MS
      Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy

      NEUROMUSCULAR DISORDERS
    28. Pratiwi, R; Fletcher, LM; Pyper, WR; Do, KA; Crawford, DHG; Powell, LW; Jazwinska, EC
      Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression

      JOURNAL OF HEPATOLOGY
    29. Ekstrom, U; Abrahamson, M; Floren, CH; Tollig, H; Wettrell, G; Nilsson, E; Sun, XM; Soutar, AK; Nilsson-Ehle, P
      An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)

      CLINICAL GENETICS
    30. Lotti, M; Moretto, A
      Promotion of organophosphate induced delayed polyneuropathy by certain esterase inhibitors

      CHEMICO-BIOLOGICAL INTERACTIONS
    31. Gallagher, PG; Forget, BG
      Hematologically important mutations: Spectrin and ankyrin variants in hereditary spherocytosis

      BLOOD CELLS MOLECULES AND DISEASES
    32. VANJAARSVELD CHM; OTTEN HG; JACOBS JWG; KRUIZE AA; BRUS HLM; BIJLSMA JWJ
      IS THERE AN INDICATION FOR HLA-DR TYPING FOR INDIVIDUAL PATIENTS WITHRHEUMATOID-ARTHRITIS

      Clinical and experimental rheumatology
    33. VANJAARSVELD CHM; OTTEN HG; JACOBS JWG; KRUIZE AA; BRUS HLM; BIJLSMA JWJ
      ASSOCIATION OF HLA-DR WITH SUSCEPTIBILITY TO AND CLINICAL EXPRESSION OF RHEUMATOID-ARTHRITIS - REEVALUATION BY MEANS OF GENOMIC TISSUE TYPING

      British journal of rheumatology
    34. BENN P
      TRISOMY-16 AND TRISOMY-16 MOSAICISM - A REVIEW

      American journal of medical genetics
    35. TSE WT; GALLAGHER PG; JENKINS PB; WANG YP; BENOIT L; SPEICHER D; WINKELMANN JC; AGRE P; FORGET BG; MARCHESI SL
      AMINO-ACID SUBSTITUTION IN ALPHA-SPECTRIN COMMONLY COINHERITED WITH NONDOMINANT HEREDITARY SPHEROCYTOSIS

      American journal of hematology
    36. OHSUZU F; KATSUSHIKA S; AKANUMA M; NAKAMURA H; HARADA H; SATOH M; HIROI S; KIMURA A
      HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY DUE TO A NOVEL T-TO-A TRANSITION AT CODON-624 IN THE BETA-MYOSIN HEAVY-CHAIN (BETA-MHC) GENE POSSIBLY RELATED TO THE SUDDEN-DEATH

      International journal of cardiology
    37. BASSERES DS; PRANKE PHL; SALES TSI; COSTA FF; SAAD STO
      BETA-SPECTRIN CAMPINAS - A NOVEL SHORTENED BETA-CHAIN VARIANT ASSOCIATED WITH SKIPPING OF EXON-30 AND HEREDITARY ELLIPTOCYTOSIS

      British Journal of Haematology
    38. CUDA G; PERROTTI N; PERTICONE F; MATTIOLI PL
      A PREVIOUSLY UNDESCRIBED DE-NOVO INSERTION-DELETION MUTATION IN THE BETA-MYOSIN HEAVY-CHAIN GENE IN A KINDRED WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

      HEART
    39. GALLAGHER PG; FORGET BG
      HEMATOLOGICALLY IMPORTANT MUTATIONS - SPECTRIN VARIANTS IN HEREDITARYELLIPTOCYTOSIS AND HEREDITARY PYROPOIKILOCYTOSIS

      Blood cells, molecules, & diseases
    40. TAKAHASHI S; MIYAMOTO A; OKI J; OKUNO A
      CTG TRINUCLEOTIDE REPEAT LENGTH AND CLINICAL EXPRESSION IN A FAMILY WITH MYOTONIC-DYSTROPHY

      Brain & development
    41. BRAUN V; ANTONIADIS G; RATH S; RICHTER HP
      CAVERNOUS HEMANGIOMAS - INDICATIONS FOR O PERATIVE REMOVAL AND RESULTS

      Nervenarzt
    42. GALLAGHER PG; KOTULA L; WANG YP; MARCHESI SL; CURTIS PJ; SPEICHER DW; FORGET BG
      MOLECULAR-BASIS AND HAPLOTYPING OF THE ALPHA-II DOMAIN POLYMORPHISMS OF SPECTRIN - APPLICATION TO THE STUDY OF HEREDITARY ELLIPTOCYTOSIS AND PYROPOIKILOCYTOSIS

      American journal of human genetics
    43. MASSARDO L; AGUIRRE V; GARCIA ME; CERVILLA V; NICOVANI S; GONZALEZ A; RIVERO S; JACOBELLI S
      CLINICAL EXPRESSION OF RHEUMATOID-ARTHRITIS IN CHILEAN PATIENTS

      Seminars in arthritis and rheumatism
    44. BROWN AK; SLEEPER LA; MILLER ST; PEGELOW CH; GILL FM; WACLAWIW MA
      REFERENCE VALUES AND HEMATOLOGIC CHANGES FROM BIRTH TO 5 YEARS IN PATIENTS WITH SICKLE-CELL-DISEASE

      Archives of pediatrics & adolescent medicine
    45. YAWATA A; KANZAKI A; UEHIRA K; YAWATA Y
      A SURFACE REPLICA METHOD - A USEFUL TOOL FOR STUDIES OF THE CYTOSKELETAL NETWORK IN RED-CELL MEMBRANES OF NORMAL SUBJECTS AND PATIENTS WITHA BETA-SPECTRIN MUTANT (SPECTRIN LE-PUY BETA(220 214))/

      Virchows Archiv
    46. MORETTO A; LOTTI M
      PROMOTION OF PERIPHERAL AXONOPATHIES BY CERTAIN ESTERASE INHIBITORS

      Toxicology and industrial health


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 23:17:04