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La ricerca find articoli where authors phrase all words ' TISCHFIELD JA' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 61 riferimenti
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    1. Deng, L; Yang, M; Frund, S; Wessel, T; De Abreu, RA; Tischfield, JA; Sahota, A
      2,8-dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT

      MOLECULAR GENETICS AND METABOLISM
    2. Shao, CS; Stambrook, PJ; Tischfield, JA
      Mitotic recombination is suppressed by chromosomal divergence in hybrids of distantly related mouse strains

      NATURE GENETICS
    3. Evan, AP; Bledsoe, SB; Connors, BA; Deng, L; Liang, L; Shao, CS; Fineberg, NS; Grynpas, MD; Stambrook, PJ; Youzhi, S; Sahota, A; Tischfield, JA
      Sequential analysis of kidney stone formation in the Aprt knockout mouse

      KIDNEY INTERNATIONAL
    4. Liang, L; Deng, L; Shao, CS; Stambrook, PJ; Tischfield, JA
      In vivo loss of heterozygosity in T-cells of B6C3F1 Aprt(+/-) mice

      ENVIRONMENTAL AND MOLECULAR MUTAGENESIS
    5. Wang, L; Raikwar, N; Deng, L; Yang, M; Liang, L; Shao, CS; Evan, AP; Stambrook, PJ; Sahota, A; Tischfield, JA
      Altered gene expression in kidneys of mice with 2,8-dihydroxyadenine nephrolithiasis

      KIDNEY INTERNATIONAL
    6. Shao, CS; Deng, L; Henegariu, O; Liang, L; Stambrook, PJ; Tischfield, JA
      Chromosome instability contributes to loss of heterozygosity in mice lacking p53

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    7. Rose, JA; Yates, PA; Simpson, J; Tischfield, JA; Stambrook, PJ; Turker, MS
      Biallelic methylation and silencing of mouse Aprt in normal kidney cells

      CANCER RESEARCH
    8. Dlouhy, SR; Wheeler, P; Trofatter, JA; Stambrook, PJ; Tischfield, JA
      Detecting point mutations by denaturing-gradient gel electrophoresis

      NUCLEIC ACID PROTOCOLS HANDBOOK
    9. Wang, L; Ou, X; Sebesta, I; Vondrak, K; Krijt, J; Elleder, M; Poupetova, H; Ledvinova, J; Zeman, J; Simmonds, HA; Tischfield, JA; Sahota, A
      Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency

      MOLECULAR GENETICS AND METABOLISM
    10. Bolante-Cervantes, R; Li, SN; Sahota, A; Tischfield, JA; Zwerdling, T; Stambrook, PJ
      Pattern of localization of primitive hematopoietic cells in vivo using a novel mouse model

      EXPERIMENTAL HEMATOLOGY
    11. Shao, CS; Deng, L; Henegariu, O; Liang, L; Raikwar, N; Sahota, A; Stambrook, PJ; Tischfield, JA
      Mitotic recombination produces the majority of recessive fibroblast variants in heterozygous mice

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    12. Turker, MS; Gage, BM; Rose, JA; Elroy, D; Ponomareva, ON; Stambrook, PJ; Tischfield, JA
      A novel signature mutation for oxidative damage resembles a mutational pattern found commonly in human cancers

      CANCER RESEARCH
    13. Turker, MS; Gage, BM; Rose, JA; Ponomareva, ON; Tischfield, JA; Stambrook, PJ; Barlow, C; Wynshaw-Boris, A
      Solid tissues removed from Atm homozygous deficient mice do not exhibit a mutator phenotype for second-step autosomal mutations

      CANCER RESEARCH
    14. STOCKELMAN MG; LORENZ JN; SMITH FN; BOIVIN GP; SAHOTA A; TISCHFIELD JA; STAMBROOK PJ
      CHRONIC-RENAL-FAILURE IN A MOUSE MODEL OF HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY

      American journal of physiology. Renal, fluid and electrolyte physiology
    15. FOROUD T; BUCHOLZ KK; EDENBERG HJ; GOATE A; NEUMAN RJ; PORJESZ B; KOLLER DL; RICE J; REICH T; BIERUT LJ; CLONINGER CR; NURNBERGER JI; LI TK; CONNEALLY PM; TISCHFIELD JA; GROVE R; HESSELBROCK V; SCHUCKIT M; BEGLEITER H
      LINKAGE OF AN ALCOHOLISM-RELATED SEVERITY PHENOTYPE TO CHROMOSOME-16

      American journal of medical genetics
    16. CLONINGER CR; VANEERDEWEGH P; GOATE A; EDENBERG HJ; BLANGERO J; HESSELBROCK V; REICH T; NURNBERGER J; SCHUCKIT M; PORJESZ B; CROWE R; RICE JP; FOROUD T; PRZYBECK TR; ALMASY L; BUCHOLZ K; WU W; SHEARS S; CARR K; CROSE C; WILLIG C; ZHAO J; TISCHFIELD JA; LI TK; CONNEALLY PM; BEGLEITER H
      ANXIETY PRONENESS LINKED TO EPISTATIC LOCI IN GENOME SCAN OF HUMAN PERSONALITY-TRAITS

      American journal of medical genetics
    17. REICH T; EDENBERG HJ; GOATE A; WILLIAMS JT; RICE JP; VANEERDEWEGH P; FOROUD T; HESSELBROCK V; SCHUCKIT MA; BUCHOLZ K; PORJESZ B; LI TK; CONNEALLY PM; NURNBERGER JI; TISCHFIELD JA; CROWE RR; CLONINGER CR; WU W; SHEARS S; CARR K; CROSE C; WILLIG C; BEGLEITER H
      GENOME-WIDE SEARCH FOR GENES AFFECTING THE RISK FOR ALCOHOL DEPENDENCE

      American journal of medical genetics
    18. EDENBERG HJ; REYNOLDS J; KOLLER DL; BEGLEITER H; BUCHOLZ KK; CONNEALLY PM; CROWE R; GOATE A; HESSELBROCK V; LI TK; NURNBERGER JI; PORJESZ B; REICH T; RICE JP; SCHUCKIT M; TISCHFIELD JA; FOROUD T
      A FAMILY-BASED ANALYSIS OF WHETHER THE FUNCTIONAL PROMOTER ALLELES OFTHE SEROTONIN TRANSPORTER GENE HTT AFFECT THE RISK FOR ALCOHOL DEPENDENCE

      Alcoholism, clinical and experimental research
    19. EDENBERG HJ; FOROUD T; KOLLER DL; GOATE A; RICE J; VANEERDEWEGH P; REICH T; CLONINGER CR; NURNBERGER JI; KOWALCZUK M; WU B; LI TK; CONNEALLY PM; TISCHFIELD JA; WU W; SHEARS S; CROWE R; HESSELBROCK V; SCHUCKIT M; PORJESZ B; BEGLEITER H
      A FAMILY-BASED ANALYSIS OF THE ASSOCIATION OF THE DOPAMINE D2 RECEPTOR (DRD2) WITH ALCOHOLISM

      Alcoholism, clinical and experimental research
    20. Foroud, T; Bucholz, KK; Edenberg, HJ; Goate, A; Neuman, RJ; Porjesz, B; Koller, DL; Rice, J; Reich, T; Bierut, LJ; Cloninger, CR; Nurnberger, JI; Li, TK; Conneally, PM; Tischfield, JA; Crowe, R; Hesselbrock, V; Schuckit, M; Begleiter, H
      Linkage of an alcoholism-related severity phenotype to chromosome 16

      ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH
    21. EDENBERG HJ; FOROUD T; GOATE A; RICE J; REICH T; CLONINGER CR; NURNBERGER JI; LI TK; CONNEALLY PM; TISCHFIELD JA; CROWE R; HESSELBROCK V; SCHUCKIT M; PORJESZ B; BEGLEITER H
      GENETICS OF ALCOHOLISM

      Science
    22. BOND C; LAFORGE KS; TIAN MT; MELIA D; ZHANG SW; BORG L; GONG JH; SCHLUGER J; STRONG JA; LEAL SM; TISCHFIELD JA; KREEK MJ; YU L
      SINGLE-NUCLEOTIDE POLYMORPHISM IN THE HUMAN MU-OPIOID RECEPTOR GENE ALTERS BETA-ENDORPHIN BINDING AND ACTIVITY - POSSIBLE IMPLICATIONS FOR OPIATE ADDICTION

      Proceedings of the National Academy of Sciences of the United Statesof America
    23. MURAKAMI M; SHIMBARA S; KAMBE T; KUWATA H; WINSTEAD MV; TISCHFIELD JA; KUDO I
      THE FUNCTIONS OF 5 DISTINCT MAMMALIAN PHOSPHOLIPASE A(2)S IN REGULATING ARACHIDONIC-ACID RELEASE - TYPE IIA AND TYPE-V SECRETORY PHOSPHOLIPASE A(2)S ARE FUNCTIONALLY REDUNDANT AND ACT IN CONCERT WITH CYTOSOLICPHOSPHOLIPASE A(2)

      The Journal of biological chemistry
    24. CHEN J; SHAO CS; LAZAR V; SRIVASTAVA CH; LEE WH; TISCHFIELD JA
      LOCALIZATION OF GROUP-IIC LOW-MOLECULAR-WEIGHT PHOSPHOLIPASE A(2) MESSENGER-RNA TO MEIOTIC CELLS IN THE MOUSE

      Journal of cellular biochemistry
    25. GUPTA PK; SHAO C; ZHU Y; SAHOTA A; TISCHFIELD JA
      LOSS OF HETEROZYGOSITY ANALYSIS IN A HUMAN FIBROSARCOMA CELL-LINE

      Cytogenetics and cell genetics
    26. TIAN MT; BROXMEYER HE; FAN Y; LAI ZN; ZHANG SW; ARONICA S; COOPER S; BIGSBY RM; STEINMETZ R; ENGLE SJ; MESTEK A; POLLOCK JD; LEHMAN MN; JANSEN HT; YING MY; STAMBROOK PJ; TISCHFIELD JA; YU L
      ALTERED HEMATOPOIESIS, BEHAVIOR, AND SEXUAL FUNCTION IN MU-OPIOID RECEPTOR-DEFICIENT MICE

      The Journal of experimental medicine
    27. TISCHFIELD JA
      A THEMATIC SERIES ON PHOSPHOLIPASES .5. A REASSESSMENT OF THE LOW-MOLECULAR-WEIGHT PHOSPHOLIPASE A(2) GENE FAMILY IN MAMMALS

      The Journal of biological chemistry
    28. REDDY ST; WINSTEAD MV; TISCHFIELD JA; HERSCHMAN HR
      ANALYSIS OF THE SECRETORY PHOSPHOLIPASE A(2) THAT MEDIATES PROSTAGLANDIN PRODUCTION IN MAST-CELLS

      The Journal of biological chemistry
    29. GUPTA PK; SAHOTA A; BOYADJIEV SA; BYE S; SHAO CS; ONEILL JP; HUNTER TC; ALBERTINI RJ; STAMBROOK PJ; TISCHFIELD JA
      HIGH-FREQUENCY IN-VIVO LOSS OF HETEROZYGOSITY IS PRIMARILY A CONSEQUENCE OF MITOTIC RECOMBINATION

      Cancer research
    30. TISCHFIELD JA
      LOSS OF HETEROZYGOSITY OR - HOW I LEARNED TO STOP WORRYING AND LOVE MITOTIC RECOMBINATION

      American journal of human genetics
    31. SHAO C; STAMBROOK PJ; TISCHFIELD JA
      ELEVATED FREQUENCY OF APRT LOSS OF HETEROZYGOSITY IN P53 NULL MICE

      American journal of human genetics
    32. LIANG L; DENG L; SHAO C; SAHOTA A; TISCHFIELD JA
      GENETIC AND BIOCHEMICAL-ANALYSIS OF A MOUSE MODEL FOR HUMAN DHA UROLITHIASIS

      American journal of human genetics
    33. BOYADJIEV SA; SAHOTA A; TISCHFIELD JA
      IDENTIFICATION AND APPLICATION OF POLYMORPHISMS FLANKING THE HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE GENE

      Human mutation
    34. ENGLE SJ; WOMER DE; DAVIES PM; BOIVIN G; SAHOTA A; SIMMONDS HA; STAMBROOK PJ; TISCHFIELD JA
      HPRT-APRT-DEFICIENT MICE ARE NOT A MODEL FOR LESCH-NYHAN SYNDROME

      Human molecular genetics
    35. STAMBROOK PJ; SHAO C; STOCKELMAN M; BOIVIN G; ENGLE SJ; TISCHFIELD JA
      APRT - A VERSATILE IN-VIVO RESIDENT REPORTER OF LOCAL MUTATION AND LOSS OF HETEROZYGOSITY

      Environmental and molecular mutagenesis
    36. TISCHFIELD JA; XIA YR; SHIH DM; KLISAK I; CHEN J; ENGLE SJ; SIAKOTOS AN; WINSTEAD MV; SEILHAMER JJ; ALLAMAND V; GYAPAY G; LUSIS AJ
      LOW-MOLECULAR-WEIGHT, CALCIUM-DEPENDENT PHOSPHOLIPASE-A, GENES ARE LINKED AND MAP TO HOMOLOGOUS CHROMOSOME REGIONS IN MOUSE AND HUMAN

      Genomics
    37. SHAO C; GUPTA PK; SUN Y; SAHOTA A; TISCHFIELD JA
      COMPLEX CHROMOSOMAL MECHANISMS LEAD TO APRT LOSS OF HETEROZYGOSITY INHETEROPLOID CELLS

      Cytogenetics and cell genetics
    38. ENGLE SJ; STOCKELMAN MG; CHEN J; BOIVIN G; YUM MN; DAVIES PM; YING MY; SAHOTA A; SIMMONDS HA; STAMBROOK PJ; TISCHFIELD JA
      ADENINE PHOSPHORIBOSYLTRANSFERASE-DEFICIENT MICE DEVELOP 2,8-DIHYDROXYADENINE NEPHROLITHIASIS

      Proceedings of the National Academy of Sciences of the United Statesof America
    39. BALBOA MA; BALSINDE J; WINSTEAD MV; TISCHFIELD JA; DENNIS EA
      NOVEL GROUP-V PHOSPHOLIPASE A(2) INVOLVED IN ARACHIDONIC-ACID MOBILIZATION IN MURINE P388D(1) MACROPHAGES

      The Journal of biological chemistry
    40. SPIRIO LN; KUTCHERA W; WINSTEAD MV; PEARSON B; KAPLAN C; ROBERTSON M; LAWRENCE E; BURT RW; TISCHFIELD JA; LEPPERT MF; PRESCOTT SM; WHITE R
      3 SECRETORY PHOSPHOLIPASE A(2) GENES THAT MAP TO HUMAN-CHROMOSOME 1P35-36 ARE NOT MUTATED IN INDIVIDUALS WITH ATTENUATED ADENOMATOUS POLYPOSIS-COLI

      Cancer research
    41. BROXMEYER HE; COOPER S; GADDY J; PORCU P; HAGUE N; ARONICA S; REID S; TIAN M; FAN Y; ENGLE S; MESTEK A; ZHANG S; POLLOCK JD; STAMBROOK P; TISCHFIELD JA; YU L
      INVOLVEMENT OF THE MU-OPIOID RECEPTOR IN MYELOID PROGENITOR-CELL PROLIFERATION - EVIDENCE FROM MU-OPIOID RECEPTOR GENE KNOCKOUT MICE

      Blood
    42. ALLAMAND V; BROUX O; BOURG N; RICHARD I; TISCHFIELD JA; HODES ME; CONNEALLY PM; FARDEAU M; JACKSON CE; BECKMANN JS
      GENETIC-HETEROGENEITY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN A GENETIC ISOLATE (AMISH) AND EVIDENCE FOR A NEW LOCUS

      Human molecular genetics
    43. ZHU Y; BYE S; STAMBROOK PJ; TISCHFIELD JA
      AFLATOXIN-B1, 2-AMINOANTHRACENE, AND 7,12-DIMETHYLBENZ[A]ANTHRACENE-INDUCED FRAMESHIFT MUTATIONS IN HUMAN APRT

      Environmental and molecular mutagenesis
    44. RICHARD I; BROUX O; ALLAMAND V; FOUGEROUSSE F; CHIANNILKULCHAI N; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; ROUDAUT C; HILLAIRE D; PASSOSBUENO MR; ZATZ M; TISCHFIELD JA; FARDEAU M; JACKSON CE; COHEN D; BECKMANN JS
      A GENE FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY CODES FOR A PROTEASE, CALPAIN-3

      MS. Medecine sciences
    45. RICHARD I; BROUX O; ALLAMAND V; FOUGEROUSSE F; CHIANNILKULCHAI N; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; ROUDAUT C; HILLAIRE D; PASSOSBUENO MR; ZATZ M; TISCHFIELD JA; FARDEAU M; JACKSON CE; COHEN D; BECKMANN JS
      MUTATIONS IN THE PROTEOLYTIC-ENZYME CALPAIN-3 CAUSE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2A

      Cell
    46. SHAO C; GUPTA PK; SUN Y; SAHOTA A; TISCHFIELD JA
      COMPLEX CHROMOSOME MECHANISMS LEADING TO THE LOSS OF WILD-TYPE ALLELEOF APRT GENE IN HETEROPLOID CELLS

      American journal of human genetics
    47. ALLAMAND V; BROUX O; RICHARD I; FOUGEROUSSE F; CHIANNILKULCHAI N; BOURG N; BRENGUIER L; DEVAUD C; PASTURAUD P; DESOUZA AP; ROUDAUT C; TISCHFIELD JA; CONNEALLY PM; FARDEAU M; COHEN D; JACKSON CE; BECKMANN JS
      PREFERENTIAL LOCALIZATION OF THE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A GENE IN THE PROXIMAL PART OF A 1-CM 15Q15.1-Q15.3 INTERVAL

      American journal of human genetics
    48. SAHOTA A; CHEN J; BYE S; JAING J; BERENYI M; FEKETE G; TISCHFIELD JA
      OCCURRENCE OF A MISSENSE MUTATION IN ONE ALLELE AND A 7-BASEPAIR DELETION IN THE OTHER ALLELE IN A PATIENT WITH ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY

      Human mutation
    49. SAHOTA A; CHEN J; BOYADJIEV SA; GAULT MH; TISCHFIELD JA
      MISSENSE MUTATION IN THE ADENINE PHOSPHORIBOSYLTRANSFERASE GENE CAUSING 2,8-DIHYDROXYADENINE UROLITHIASIS

      Human molecular genetics
    50. BYE S; MALLMANN R; DULEY J; SIMMONDS HA; CHEN J; TISCHFIELD JA; SAHOTA A
      IDENTIFICATION OF A 7-BASEPAIR DELETION IN THE ADENINE PHOSPHORIBOSYL-TRANSFERASE GENE AS A CAUSE OF 2,8-DIHYDROXYADENINE UROLITHIASIS

      The Clinical investigator
    51. ZHU Y; BYE S; STAMBROOK PJ; TISCHFIELD JA
      SINGLE-BASE DELETION INDUCED BY BENZO[A]PYRENE DIOL EPOXIDE AT THE ADENINE PHOSPHORIBOSYLTRANSFERASE LOCUS IN HUMAN FIBROSARCOMA CELL-LINES

      MUTATION RESEARCH
    52. CHEN J; ENGLE SJ; SEILHAMER JJ; TISCHFIELD JA
      CLONING AND RECOMBINANT EXPRESSION OF A NOVEL HUMAN LOW-MOLECULAR-WEIGHT CA2-DEPENDENT PHOSPHOLIPASE-A(2)()

      The Journal of biological chemistry
    53. CHEN J; ENGLE SJ; SEILHAMER JJ; TISCHFIELD JA
      CLONING AND CHARACTERIZATION OF NOVEL RAT AND MOUSE LOW-MOLECULAR-WEIGHT CA2-DEPENDENT PHOSPHOLIPASE-A(2)S CONTAINING 16 CYSTEINES()

      The Journal of biological chemistry
    54. CHEN J; ENGLE SJ; SEILHAMER JJ; TISCHFIELD JA
      CLONING, EXPRESSION AND PARTIAL CHARACTERIZATION OF A NOVEL RAT PHOSPHOLIPASE A(2)

      Biochimica et biophysica acta, L. Lipids and lipid metabolism
    55. ZHU Y; STAMBROOK PJ; TISCHFIELD JA
      LOSS OF HETEROZYGOSITY - THE MOST FREQUENT CAUSE OF RECESSIVE PHENOTYPE EXPRESSION AT THE HETEROZYGOUS HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE LOCUS

      Molecular carcinogenesis
    56. SIAKOTOS AN; VANKUIJK FJGM; TISCHFIELD JA
      ELEVATED LEVELS OF NEUTROPHIL 4-HYDROXYNONENAL IN CANINE NEURONAL CEROID-LIPOFUSCINOSIS AND HUMAN IMMORTALIZED LYMPHOCYTES OF NCL PATIENTS

      Journal of inherited metabolic disease
    57. CHEN J; SAHOTA A; MARTIN GF; HAKODA M; KAMATANI N; STAMBROOK PJ; TISCHFIELD JA
      ANALYSIS OF GERMLINE AND INVIVO SOMATIC MUTATIONS IN THE HUMAN ADENINE PHOSPHORIBOSYLTRANSFERASE GENE - MUTATIONAL HOT-SPOTS AT THE INTRON-4 SPLICE DONOR SITE AND AT CODON-87

      MUTATION RESEARCH
    58. GUPTA PK; SAHOTA A; ONEILL JP; HUNTER TC; ALBERTINI RJ; TISCHFIELD JA
      GENETIC-STRUCTURE ANALYSIS AND LOSS OF HETEROZYGOSITY (LOH) IN HUMAN-CELLS

      American journal of human genetics
    59. CHEN J; BYE S; SAHOTA A; TISCHFIELD JA
      EXON SKIPPING IN THE WILD-TYPE TRANSCRIPTS OF APRT AND ITS ENHANCEMENT BY A NONSENSE MUTATION

      American journal of human genetics
    60. ENGLE SJ; LUSIS AJ; CHEN J; SEILHAMER JJ; SIAKOTOS AN; TISCHFIELD JA
      INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS, NONPANCREATIC PHOSPHOLIPASE-A2 (PLA2) AND 2 PLA2-LIKE GENE FRAGMENTS MAP TO 1P35

      American journal of human genetics
    61. TISCHFIELD JA; CHEN J; ENGLE SJ; SEILHAMER JJ
      CLONING OF A NOVEL RAT LOW-MOLECULAR-WEIGHT PHOSPHOLIPASE-A(2) AND ITS HUMAN HOMOLOG

      American journal of human genetics


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Documento generato il 23/01/21 alle ore 12:24:59