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La ricerca find articoli where soggetti phrase all words 'genetic defect' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 63 riferimenti
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    1. Dai, D; Zeldin, DC; Blaisdell, JA; Chanas, B; Coulter, SJ; Ghanayem, BI; Goldstein, JA
      Polymorphisms in human CYP2C8 decrease metabolism of the anticancer drug paclitaxel and arachidonic acid

      PHARMACOGENETICS
    2. Furuta, T; Shirai, N; Takashima, M; Xiao, F; Hanai, H; Nakagawa, K; Sugimura, H; Ohashi, K; Ishizaki, T
      Effects of genotypic differences in CYP2C19 status on cure rates for Helicobacter pylori infection by dual therapy with rabeprazole plus amoxicillin

      PHARMACOGENETICS
    3. Ellis, NA; Ciocci, S; German, J
      Back mutation can produce phenotype reversion in Bloom syndrome somatic cells

      HUMAN GENETICS
    4. Wada, T; Schurman, SH; Otsu, M; Garabedian, EK; Ochs, HD; Nelson, DL; Candotti, F
      Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    5. Williard, DE; Nwankwo, JO; Kaduce, TL; Harmon, SD; Irons, M; Moser, HW; Raymond, GV; Spector, AA
      Identification of a fatty acid Delta(6)-desaturase deficiency in human skin fibroblasts

      JOURNAL OF LIPID RESEARCH
    6. Zhou, HH
      CYP2C19 genotype determines enzyme activity and inducibility of S-mephenytoin hydroxylase

      CLINICA CHIMICA ACTA
    7. Tsao, CC; Wester, MR; Ghanayem, B; Coulter, SJ; Chanas, B; Johnson, EF; Goldstein, JA
      Identification of human CYP2C19 residues that confer S-mephenytoin 4 '-hydroxylation activity to CYP2C9

      BIOCHEMISTRY
    8. Colombo, C; Okolicsanyi, L; Strazzabosco, M
      Advances in familial and congenital cholestatic diseases. Clinical and diagnostic implications

      DIGESTIVE AND LIVER DISEASE
    9. Mustajoki, S; Laine, M; Lahtela, M; Mustajoki, P; Peltonen, L; Kauppinen, R
      Acute intermittent porphyria: Expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells

      MOLECULAR MEDICINE
    10. Rivero-Carmena, M; Porras, O; Pelaez, B; Pacheco-Castro, A; Gatti, RA; Regueiro, JR
      Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4(+) and CD8(+) T lymphocytes is ATM-independent.

      INTERNATIONAL IMMUNOLOGY
    11. Wang, XY; Levy, RH; Ho, RJY
      Development of a semi-quantitative assay to detect full-length CYP2C19 RNA

      BIOTECHNIQUES
    12. Khaliq, Y; Gallicano, K; Seguin, I; Fyke, K; Carignan, G; Bulman, D; Badley, A; Cameron, DW
      Single and multiple dose pharmacokinetics of nelfinavir and CYP2C19 activity in human immunodeficiency virus-infected patients with chronic liver disease

      BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
    13. Furuta, T; Takashima, M; Shirai, N; Xiao, F; Hanai, H; Ohashi, K; Ishizaki, T
      Cure of refractory duodenal ulcer and infection caused by Helicobacter pylori by high doses of omeprazole and amoxicillin in a homozygous CYP2C19 extensive metabolizer patient

      CLINICAL PHARMACOLOGY & THERAPEUTICS
    14. Ishii, E; Kimura, N
      Familial hemophagocytic lymphohistiocytosis

      INTERNATIONAL JOURNAL OF PEDIATRIC HEMATOLOGY/ONCOLOGY
    15. Waisfisz, Q; Morgan, NV; Savino, M; de Winter, JP; van Berkel, CGM; Hoatlin, ME; Ianzano, L; Gibson, RA; Arwert, F; Savoia, A; Mathew, CG; Pronk, JC; Joenje, H
      Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

      NATURE GENETICS
    16. Kaneko, A; Lum, JK; Yaviong, J; Takahashi, N; Ishizaki, T; Bertilsson, L; Kobayakawa, T; Bjorkman, A
      High and variable frequencies of CYP2C19 mutations: medical consequences of poor drug metabolism in Vanuatu and other Pacific islands

      PHARMACOGENETICS
    17. Kaneko, A; Bergqvist, Y; Taleo, G; Kobayakawa, T; Ishizaki, T; Bjorkman, A
      Proguanil disposition and toxicity in malaria patients from Vanuatu with high frequencies of CYP2C19 mutations

      PHARMACOGENETICS
    18. Griese, EU; Lapple, F; Eichelbaum, M
      Detection of CYP2C19 alleles*1,*2 and*3 by multiplex polymerase chain reaction

      PHARMACOGENETICS
    19. Huang, CH; Cheng, GJ; Liu, Z; Chen, Y; Reid, ME; Halverson, G; Okubo, Y
      Molecular basis for Rh-null syndrome: Identification of three new missensemutations in the Rh50 glycoprotein gene

      AMERICAN JOURNAL OF HEMATOLOGY
    20. Coller, JK; Somogyi, AA; Bochner, F
      Comparison of (S)-mephenytoin and proguanil oxidation in vitro: contribution of several CYP isoforms

      BRITISH JOURNAL OF CLINICAL PHARMACOLOGY
    21. Janosa, A; Baranyai, B; Dohy, J
      Comparison of milk production of the progeny of BLAD-carrier and healthy Holstein bulls in Hungary

      ACTA VETERINARIA HUNGARICA
    22. Mills, JL; Kirke, PN; Molloy, AM; Burke, H; Conley, MR; Lee, YJ; Mayne, PD; Weir, DG; Scott, JM
      Methylenetetrahydrofolate reductase thermolabile variant and oral clefts

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Ibeanu, GC; Blaisdell, J; Ferguson, RJ; Ghanayem, BI; Brosen, K; Benhamou, S; Bouchardy, C; Wilkinson, GR; Dayer, P; Goldstein, JA
      A novel transversion in the intron 5 donor splice junction of CYP2C19 and a sequence polymorphism in exon 3 contribute to the poor metabolizer phenotype for the anticonvulsant drug S-mephenytoin

      JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS
    24. 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
    25. Garcia-Barcelo, M; Chow, LY; Chiu, HFK; Wing, YK; Lee, DTS; Lam, KL; Waye, MMY
      Frequencies of defective CYP2C19 alleles in a Hong Kong Chinese population: Detection of the rare allele CYP2C19*4

      CLINICAL CHEMISTRY
    26. Padeeri, M; Vijaykumar, K; Grupe, S; Narayan, MP; Schwerin, M; Kumar, MH
      Incidence of hereditary Citrullinemia and bovine leucocyte adhesion deficiency syndrome in Indian dairy cattle (BOS TAURUS, BOSINDICUS) and buffalo (BUBALUS BUBALIS) population

      ARCHIV FUR TIERZUCHT-ARCHIVES OF ANIMAL BREEDING
    27. Deb, S; Braganza, J; Owen, M; Kehoe, P; Williams, H; Norton, N
      No significant association between a PS-1 intronic polymorphism and dementia in Down's syndrome

      ALZHEIMERS REPORTS
    28. ANDERSEN MR; FARIN FM; OMIECINSKI CJ
      QUANTIFICATION OF MULTIPLE HUMAN CYTOCHROME-P450 MESSENGER-RNA MOLECULES USING COMPETITIVE REVERSE TRANSCRIPTASE-PCR

      DNA and cell biology
    29. Ryu, SW; Kim, YJ; Kim, E
      Mutation analysis of CYP2D6 locus in the Korean population: Identificationof rare poor metabolizer alleles at the nucleotide level

      MOLECULES AND CELLS
    30. OISO Y; IWASAKI Y
      SYMPOSIUM ON MORBIDITY OF BODY-FLUID BALANCE AND ITS TREATMENT - 1 - VASOPRESSIN AND RELATED DISORDERS

      Internal medicine
    31. WAHN V; STEPHAN V; HIRSCHHORN R
      REVERSE MUTATIONS - SPONTANEOUS AMELIORATION OR CURE OF INHERITED DISORDERS

      European journal of pediatrics
    32. ISHIKAWA Y; HYODOTAGUCHI Y
      HERITABLE MALFORMATIONS IN THE PROGENY OF THE MALE MEDAKA (ORYZIAS-LATIPES) IRRADIATED WITH X-RAYS

      Mutation research. Genetic toxicology and environmental mutagenesis
    33. COLLINS AR; MITCHELL DL; ZUNINO A; DEWIT J; BUSCH D
      UV-SENSITIVE RODENT MUTANT-CELL LINES OF COMPLEMENTATION GROUP-6 AND GROUP-8 DIFFER PHENOTYPICALLY FROM THEIR HUMAN COUNTERPARTS

      Environmental and molecular mutagenesis
    34. SATO S; MATSUO N
      GENETIC-ANALYSIS OF HYPOPHOSPHATASIA

      Acta Paediatrica Japonica Overseas Edition
    35. KIEWEG V; KRAUTLE FG; NANDY A; ENGST S; VOCK P; ABDELGHANY AG; BROSS P; GREGERSEN N; RASCHED I; STRAUSS A; GHISLA S
      BIOCHEMICAL-CHARACTERIZATION OF PURIFIED, HUMAN RECOMBINANT LYS304-]GLU MEDIUM-CHAIN ACYL-COA DEHYDROGENASE CONTAINING THE COMMON DISEASE-CAUSING MUTATION AND COMPARISON WITH THE NORMAL ENZYME

      European journal of biochemistry
    36. HUANG ZQ; FASCO MJ; KAMINSKY LS
      ALTERNATIVE SPLICING OF CYP2D MESSENGER-RNA IN HUMAN BREAST-TISSUE

      Archives of biochemistry and biophysics
    37. CARCILLO JA; PARISE RA; ADEDOYIN A; FRYE R; BRANCH RA; ROMKES M
      CYP2D6 MESSENGER-RNA EXPRESSION IN CIRCULATING PERIPHERAL-BLOOD MONONUCLEAR-CELLS CORRELATES WITH IN-VIVO DEBRISOQUINE HYDROXYLASE-ACTIVITYIN EXTENSIVE METABOLIZERS

      Research communications in molecular pathology and pharmacology
    38. RICK ME; KRIZEK DM
      IDENTIFICATION OF A HIS54GLN SUBSTITUTION IN VON-WILLEBRAND-FACTOR FROM A PATIENT WITH DEFECTIVE BINDING OF FACTOR-VIII

      American journal of hematology
    39. EICHELBAUM M; EVERT B
      INFLUENCE OF PHARMACOGENETICS ON DRUG DISPOSITION AND RESPONSE

      Clinical and experimental pharmacology and physiology
    40. RIES S; ASLANIDIS C; FEHRINGER P; CAREL JC; GENDREL D; SCHMITZ G
      A NEW MUTATION IN THE GENE FOR LYSOSOMAL ACID LIPASE LEADS TO WOLMAN-DISEASE IN AN AFRICAN KINDRED

      Journal of lipid research
    41. HOU ZY; CHEN CP; YANG WC; LAI MD; BUCHERT ET; CHUNG HM; PICKLE LW; WOOSLEY RL
      DETERMINATION OF DEXTROMETHORPHAN METABOLIC PHENOTYPE BY SALIVARY ANALYSIS WITH A REFERENCE TO GENOTYPE IN CHINESE PATIENTS RECEIVING RENALHEMODIALYSIS

      Clinical pharmacology and therapeutics
    42. HASSOUN H; VASSILIADIS JN; MURRAY J; YI SJ; HANSPAL M; JOHNSON CA; PALEK J
      HEREDITARY SPHEROCYTOSIS WITH SPECTRIN DEFICIENCY DUE TO AN UNSTABLE TRUNCATED BETA-SPECTRIN

      Blood
    43. MEYER UA; AMREIN R; BALANT LP; BERTILSSON L; EICHELBAUM M; GUENTERT TW; HENAUER S; JACKSON P; LAUX G; MIKKELSEN H; PECK C; POLLOCK BG; PRIEST R; SJOQVIST F; DELINISTULA A
      ANTIDEPRESSANTS AND DRUG-METABOLIZING-ENZYMES - EXPERT GROUP-REPORT

      Acta psychiatrica Scandinavica
    44. CRESPI CL; STEIMEL DT; PENMAN BW; KORZEKWA KR; FERNANDEZSALGUERO P; BUTERS JTM; GELBOIN HV; GONZALEZ FJ; IDLE JR; DALY AK
      COMPARISON OF SUBSTRATE METABOLISM BY WILD-TYPE CYP2D6 PROTEIN AND A VARIANT CONTAINING METHIONINE, NOT VALINE, AT POSITION-374

      Pharmacogenetics
    45. LOKKI ML; COLTEN HR
      GENETIC DEFICIENCIES OF COMPLEMENT

      Annals of medicine
    46. ARRANZ MJ; DAWSON E; SHAIKH S; SHAM P; SHARMA T; AITCHISON K; CROCQ MA; GILL M; KERWIN R; COLLIER DA
      CYTOCHROME P4502D6 GENOTYPE DOES NOT DETERMINE RESPONSE TO CLOZAPINE

      British journal of clinical pharmacology
    47. KATZ ML; SIAKOTOS AN
      CANINE HEREDITARY CEROID-LIPOFUSCINOSIS - EVIDENCE FOR A DEFECT IN THE CARNITINE BIOSYNTHETIC-PATHWAY

      American journal of medical genetics
    48. SCHILCHER F; HOTTER H; TAMMEN I; SCHUH M
      OCCURRENCE OF BOVINE LEUKOCYTE ADHESION D EFICIENCY (BLAD) OF HOLSTEIN-FRIESIAN IN AUSTRIA

      Wiener Tierarztliche Monatschrift
    49. SHUSTER DE; KEHRLI ME; ACKERMANN MR
      NEUTROPHILIA IN MICE THAT LACK THE MURINE IL-8 RECEPTOR HOMOLOG

      Science
    50. STRAUSS AW; POWELL CK; HALE DE; ANDERSON MM; AHUJA A; BRACKETT JC; SIMS HF
      MOLECULAR-BASIS OF HUMAN MITOCHONDRIAL VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY CAUSING CARDIOMYOPATHY AND SUDDEN-DEATH IN CHILDHOOD

      Proceedings of the National Academy of Sciences of the United Statesof America
    51. HASSOUN H; VASSILIADIS JN; MURRAY J; YI SJ; HANSPAL M; WARE RE; WINTER SS; CHIOU SS; PALEK J
      MOLECULAR-BASIS OF SPECTRIN DEFICIENCY IN BETA-SPECTRIN DURHAM - A DELETION WITHIN BETA-SPECTRIN ADJACENT TO THE ANKYRIN-BINDING SITE PRECLUDES SPECTRIN ATTACHMENT TO THE MEMBRANE IN HEREDITARY SPHEROCYTOSIS

      The Journal of clinical investigation
    52. MIYATA T; ZHENG YZ; KATO A; KATO H
      A POINT MUTATION (ARG271-]CYS) OF A HOMOZYGOTE FOR DYSFUNCTIONAL PROTHROMBIN, PROTHROMBIN OBIHIRO, WHICH HAS A REGION OF HIGH SEQUENCE VARIABILITY

      British Journal of Haematology
    53. EVERT B; GRIESE EU; EICHELBAUM M
      CLONING AND SEQUENCING OF A NEW NONFUNCTIONAL CYP2D6 ALLELE - DELETION OF T-1795 IN EXON-3 GENERATES A PREMATURE STOP CODON

      Pharmacogenetics
    54. ROMKESSPARKS M; MNUSKIN A; CHERN HD; PERSAD R; FLEMING C; SIBLEY GNA; SMITH P; WILKINSON GR; BRANCH RA
      CORRELATION OF POLYMORPHIC EXPRESSION OF CYP2D6 MESSENGER-RNA IN BLADDER MUCOSA AND TUMOR-TISSUE TO IN-VIVO DEBRISOQUINE HYDROXYLASE-ACTIVITY

      Carcinogenesis
    55. BROSEN K; NIELSEN PN; BRUSGAARD K; GRAM LF; SKJODT K
      CYP2D6 GENOTYPE DETERMINATION IN THE DANISH POPULATION

      European Journal of Clinical Pharmacology
    56. BROSEN K; NIELSEN PN; BRUSGAARD K; GRAM LF; SKJODT K
      CYP2D6 GENOTYPE DETERMINATION IN THE DANISH POPULATION

      European Journal of Clinical Pharmacology
    57. YAWATA Y
      BAND-4.2 ABNORMALITIES IN HUMAN RED-CELLS

      The American journal of the medical sciences
    58. JORGE LF; ARIAS TD; GRIESE U; NEBERT DW; EICHELBAUM M
      EVOLUTIONARY PHARMACOGENETICS OF CYP2D6 IN NGAWBE-GUAYMI OF PANAMA - ALLELE-SPECIFIC PCR DETECTION OF THE CYP2D6B ALLELE AND RFLP ANALYSIS

      Pharmacogenetics
    59. MIKLOSSY J
      ALZHEIMERS-DISEASE - A SPIROCHETOSIS

      NeuroReport
    60. MURA C; PANSERAT S; VINCENTVIRY M; GALTEAU MM; JACQZAIGRAIN E; KRISHNAMOORTHY R
      DNA HAPLOTYPE DEPENDENCY OF DEBRISOQUINE 4-HYDROXYLASE (CYP2D6) EXPRESSION AMONG EXTENSIVE METABOLIZERS

      Human genetics
    61. NECHIPORUK A; FAIN P; KORT E; NEE LE; FROMMELT E; POLINSKY RJ; KORENBERG JR; PULST SM
      LINKAGE OF FAMILIAL ALZHEIMER-DISEASE TO CHROMOSOME-14 IN 2 LARGE EARLY-ONSET PEDIGREES - EFFECTS OF MARKER ALLELE FREQUENCIES ON LOD SCORES

      American journal of medical genetics
    62. HANAWALT PC
      CLOSE-FITTING SLEEVES - RECOGNITION OF STRUCTURAL DEFECTS IN DUPLEX DNA

      MUTATION RESEARCH
    63. SAVVIDES P; SHALEV O; JOHN KM; LUX SE
      COMBINED SPECTRIN AND ANKYRIN DEFICIENCY IS COMMON IN AUTOSOMAL-DOMINANT HEREDITARY SPHEROCYTOSIS

      Blood


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Documento generato il 22/10/20 alle ore 01:06:25