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    1. Salahshor, S; Lei, HX; Huo, HG; Kristensen, VN; Loman, N; Sjoberg-Margolin, S; Borg, A; Borresen-Dale, AL; Vorechovsky, I; Lindblom, A
      Low frequency of E-cadherin alterations in familial breast cancer

      BREAST CANCER RESEARCH
    2. Vorechovsky, I; Kralovicova, J; Tchilian, E; Masterman, T; Zhang, ZP; Ferry, B; Misbah, S; Chapel, H; Webster, D; Hellgren, D; Anvret, M; Hillert, J; Hammarstrom, L; Beverley, PC
      Does 77C -> G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus?

      NATURE GENETICS
    3. Vorechovsky, I; Kralovicova, J; Laycock, MD; Webster, ADB; Marsh, SGE; Madrigal, A; Hammarstrom, L
      Short tandem repeat (STR) haplotypes in HLA: an integrated 50-kb STR/linkage disequilibrium/gene map between the RING3 and HLA-B genes and identification of STR haplotype diversification in the class III region

      EUROPEAN JOURNAL OF HUMAN GENETICS
    4. Forsti, A; Luo, L; Vorechovsky, I; Soderberg, M; Lichtenstein, P; Hemminki, K
      Allelic imbalance on chromosomes 13 and 17 and mutation analysis of BRCA1 and BRCA2 genes in monozygotic twins concordant for breast cancer

      CARCINOGENESIS
    5. Stankovic, T; Taylor, AMR; Yuille, MR; Vorechovsky, I
      Recurrent ATM mutations in T-PLL on diverse haplotypes: no support for their germline origin

      BLOOD
    6. Calin, GA; di Iasio, MG; Caprini, E; Vorechovsky, I; Natali, PG; Sozzi, G; Croce, CM; Barbanti-Brodano, G; Russo, G; Negrini, M
      Low frequency of alterations of the alpha (PPP2R1A) and beta (PPP2R1B) isoforms of the subunit A of the serine-threonine phosphatase 2A in human neoplasms

      ONCOGENE
    7. D'Errico, M; Calcagnile, A; Canzona, F; Didona, B; Posteraro, P; Cavalieri, R; Corona, R; Vorechovsky, I; Nardo, T; Stefanini, M; Dogliotti, E
      UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients

      ONCOGENE
    8. Vorechovsky, I; Cullen, M; Carrington, M; Hammarstrom, L; Webster, ADB
      Fine mapping of IGAD1 in IgA deficiency and common variable immunodeficiency: Identification and characterization of haplotypes shared by affected members of 101 multiple-case families

      JOURNAL OF IMMUNOLOGY
    9. Hammarstrom, L; Vorechovsky, I; Webster, D
      Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID)

      CLINICAL AND EXPERIMENTAL IMMUNOLOGY
    10. Vorechovsky, I; Benediktsson, KP; Toftgard, R
      The patched/hedgehog/smoothened signalling pathway in human breast cancer:No evidence for H133YSHH, PTCH and SMO mutations

      EUROPEAN JOURNAL OF CANCER
    11. di Iasio, MG; Calin, G; Tibiletti, MG; Vorechovsky, I; Benediktsson, KP; Taramelli, R; Barbanti-Brodano, G; Negrini, M
      Refinement of the LOH region 1 at 11q23.1 deleted in human breast carcinomas and sublocalization of 11 expressed sequence tags within the refined region

      ONCOGENE
    12. Vorechovsky, I
      Missense mutations at ATM gene and cancer risk (vol 354, pg 1276, 1999)

      LANCET
    13. Vorechovsky, I; Ortmann, E; Steinmann, D; Dork, T
      Missense mutations at ATM gene and cancer risk

      LANCET
    14. Vorechovsky, I; Blennow, E; Nordenskjold, M; Webster, ADB; Hammarstrom, L
      A putative susceptibility locus on chromosome 18 is not a major contributor to human selective IgA deficiency: Evidence from meiotic mapping of 83 multiple-case families

      JOURNAL OF IMMUNOLOGY
    15. Vorechovsky, I; Webster, ADB; Plebani, A; Hammarstrom, L
      Genetic linkage of IgA deficiency to the major histocompatibility complex:Evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition

      AMERICAN JOURNAL OF HUMAN GENETICS
    16. YUILLE MAR; COIGNET LJA; ABRAHAM SM; YAQUB F; LUO L; MATUTES E; BRITOBABAPULLE V; VORECHOVSKY I; DYER MJS; CATOVSKY D
      ATM IS USUALLY REARRANGED IN T-CELL PROLYMPHOCYTIC LEUKEMIA

      Oncogene
    17. MONACO C; CITTERICH MH; CAPRINI E; VORECHOVSKY I; RUSSO G; CROCE CM; BARBANTIBRODANO G; NEGRINI M
      MOLECULAR-CLONING AND CHARACTERIZATION OF ZNF202 - A NEW GENE AT 11Q23.3 ENCODING TESTIS-SPECIFIC ZINC-FINGER PROTEINS

      Genomics (San Diego, Calif.)
    18. VORECHOVSKY I; PLEBANI A; WEBSTER ADB; HAMMARSTROM L
      GENETIC-LINKAGE OF IGA DEFICIENCY TO THE MHC - EVIDENCE FOR ALLELE SEGREGATION DISTORTION AT IGAD1 AND PARENT-OF-ORIGIN PENETRANCE DIFFERENCES

      Molecular immunology
    19. RYAN A; VORECHOVSKY I; WEBSTER ADB
      PHENOTYPE VARIATION AND GENETIC-COUNSELING IN FAMILIAL COMMON VARIABLE IMMUNODEFICIENCY

      Molecular immunology
    20. LUO LP; LU FM; HART S; FORONI L; RABBANI H; HAMMARSTROM L; WEBSTER ADB; VORECHOVSKY I
      ATAXIA-TELANGIECTASIA AND T-CELL LEUKEMIAS - NO EVIDENCE FOR SOMATIC ATM MUTATION IN SPORADIC T-ALL OR FOR HYPERMETHYLATION OF THE ATM-NPATE14 BIDIRECTIONAL PROMOTER IN T-PLL/

      Cancer research
    21. VORECHOVSKY I; LUO LP; DYER MJS; CATOVSKY D; AMLOT PL; YAXLEY JC; FORONI L; HAMMARSTROM L; WEBSTER ADB; YUILLE MAR
      CLUSTERING OF MISSENSE MUTATIONS IN THE ATAXIA-TELANGIECTASIA GENE INA SPORADIC T-CELL LEUKEMIA

      Nature genetics
    22. VORECHOVSKY I; LUO LP; HERTZ JM; FROLAND SS; KLEMOLA T; FIORINI M; QUINTI I; PAGANELLI R; OZSAHIN H; HAMMARSTROM L; WEBSTER ADB; SMITH CIE
      MUTATION PATTERN IN BRUTON TYROSINE KINASE GENE IN 26 UNRELATED PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA

      Human mutation
    23. VORECHOVSKY I; TINGBY O; HARTMAN M; STROMBERG B; NISTER M; COLLINS VP; TOFTGARD R
      SOMATIC MUTATIONS IN THE HUMAN HOMOLOG OF DROSOPHILA PATCHED IN PRIMITIVE NEUROECTODERMAL TUMORS

      Oncogene
    24. MONACO C; NEGRINI M; SOZZI G; VERONESE ML; VORECHOVSKY I; GODWIN AK; CROCE CM
      MOLECULAR-CLONING AND CHARACTERIZATION OF LOH11CR2A, A NEW GENE WITHIN A REFINED MINIMAL REGION OF LOH AT 11Q23

      Genomics
    25. VIHINEN M; BELOHRADSKY BH; HAIRE RN; HOLINSKIFEDER E; KWAN SP; LAPPALAINEN I; LEHVASLAIHO H; LESTER T; MEINDL A; OCHS H; OLLILA J; VORECHOVSKY I; WEISS M; SMITH CIE
      BTKBASE, MUTATION DATABASE FOR X-LINKED AGAMMAGLOBULINEMIA (VOL 25, PG 166, 1997)

      Nucleic acids research
    26. VIHINEN M; BELOHRADSKY BH; HAIRE RN; HOLINSKIFEDER E; KWAN SP; LAPPALAINEN I; LEHVASLAIHO H; LESTER T; MEINDL A; OCHS HD; OLLILA J; VORECHOVSKY I; WEISS M; SMITH CIE
      BTKBASE, MUTATION DATABASE FOR X-LINKED AGAMMAGLOBULINEMIA (XLA)

      Nucleic acids research
    27. VORECHOVSKY I; UNDEN AB; SANDSTEDT B; TOFTGARD R; STAHLEBACKDAHL M
      TRICHOEPITHELIOMAS CONTAIN SOMATIC MUTATIONS IN THE OVEREXPRESSED PTCH GENE - SUPPORT FOR A GATEKEEPER MECHANISM IN SKIN TUMORIGENESIS

      Cancer research
    28. KALLASSY M; TOFTGARD R; UEDA M; NAKAZAWA K; VORECHOVSKY I; YAMASAKI H; NAKAZAWA H
      PATCHED (PTCH)-ASSOCIATED PREFERENTIAL EXPRESSION OF SMOOTHENED (SMOH) IN HUMAN BASAL-CELL CARCINOMA OF THE SKIN

      Cancer research
    29. VORECHOVSKY I; LUO LP; PRUDENTE S; CHESSA L; RUSSO G; KANARIOU M; JAMES M; NEGRINI M; WEBSTER ADB; HAMMARSTROM L
      EXON-SCANNING MUTATION ANALYSIS OF THE ATM GENE IN PATIENTS WITH ATAXIA-TELANGIECTASIA

      European journal of human genetics
    30. VIHINEN M; IWATA T; KINNON C; KWAN SP; OCHS HD; VORECHOVSKY I; SMITH CIE
      BTKBASE, MUTATION DATABASE FOR X-LINKED AGAMMAGLOBULINEMIA (XLA)

      Nucleic acids research
    31. SHOWS TB; ALDERS M; BENNETT S; BURBEE D; CARTWRIGHT P; CHANDRASEKHARAPPA S; COOPER P; COURSEAUX A; DAVIES C; DEVIGNES MD; DEVILEE P; ELLIOTT R; EVANS G; FANTES J; GARNER H; GAUDRAY P; GERHARD DS; GESSLER M; HIGGINS M; HUMMERICH H; JAMES M; LAGERCRANTZ J; LITT M; LITTLE P; MANNENS M; MUNROE D; NOWAK N; OBRIEN S; PARKER N; PERLIN M; REID L; RICHARD C; SAWICKI M; SWALLOW D; THAKKER R; VANHEYNINGEN V; VANSCHOTHORST E; VORECHOVSKY I; WADELIUS C; WEBER B; ZABEL B
      REPORT OF THE 5TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-11 MAPPING (1996)

      Cytogenetics and cell genetics
    32. HAHN H; WICKING C; ZAPHIROPOULOS PG; GAILANI MR; SHANLEY S; CHIDAMBARAM A; VORECHOVSKY I; HOLMBERG E; UNDEN AB; GILLIES S; NEGUS K; SMYTH I; PRESSMAN C; LEFFELL DJ; GERRARD B; GOLDSTEIN AM; DEAN M; TOFTGARD R; CHENEVIXTRENCH G; WAINWRIGHT B; BALE AE
      MUTATIONS OF THE HUMAN HOMOLOG OF DROSOPHILA PATCHED IN THE NEVOID BASAL-CELL CARCINOMA SYNDROME

      Cell
    33. HAHN H; CHRISTIANSEN J; WICKING C; ZAPHIROPOULOS PG; CHIDAMBARAM A; GERRARD B; VORECHOVSKY I; BALE AE; TOFTGARD R; DEAN M; WAINWRIGHT B
      A MAMMALIAN PATCHED HOMOLOG IS EXPRESSED IN TARGET TISSUES OF SONIC HEDGEHOG AND MAPS TO A REGION ASSOCIATED WITH DEVELOPMENTAL ABNORMALITIES

      The Journal of biological chemistry
    34. UNDEN AB; HOLMBERG E; LUNDHROZELL B; STAHLEBACKDAHL M; ZAPHIROPOULOS PG; TOFTGARD R; VORECHOVSKY I
      MUTATIONS IN THE HUMAN HOMOLOG OF DROSOPHILA PATCHED (PTCH) IN BASAL-CELL CARCINOMAS AND THE GORLIN SYNDROME - DIFFERENT IN-VIVO MECHANISMSOF PTCH INACTIVATION

      Cancer research
    35. VORECHOVSKY I; LUO LP; LINDBLOM A; NEGRINI M; WEBSTER ADB; CROCE CM; HAMMARSTROM L
      ATM MUTATIONS IN CANCER FAMILIES

      Cancer research
    36. NEGRINI M; MONACO C; VORECHOVSKY I; OHTA M; DRUCK T; BAFFA R; HUEBNER K; CROCE CM
      THE FHIT GENE AT 3P14.2 IS ABNORMAL IN BREAST CARCINOMAS

      Cancer research
    37. VORECHOVSKY I; RASIO D; LUO LP; MONACO C; HAMMARSTROM L; WEBSTER ADB; ZALOUDIK J; BARBANTIBRODANO G; JAMES M; RUSSO G; CROCE CM; NEGRINI M
      THE ATM GENE AND SUSCEPTIBILITY TO BREAST-CANCER - ANALYSIS OF 38 BREAST-TUMORS REVEALS NO EVIDENCE FOR MUTATION

      Cancer research
    38. JIN H; WEBSTER ADB; VIHINEN M; SIDERAS P; VORECHOVSKY I; HAMMARSTROM L; BERNATOWSKAMATUSZKIEWICZ E; SMITH CIE; BOBROW M; VETRIE D
      IDENTIFICATION OF BTK MUTATIONS IN 20 UNRELATED PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA (XLA)

      Human molecular genetics
    39. VORECHOVSKY I; LUO LP; DESAINTBASILE G; HAMMARSTROM L; WEBSTER ADB; SMITH CIE
      IMPROVED OLIGONUCLEOTIDE PRIMER SET FOR MOLECULAR DIAGNOSIS OF X-LINKED AGAMMAGLOBULINEMIA - PREDOMINANCE OF AMINO-ACID SUBSTITUTIONS IN THE CATALYTIC DOMAIN OF BRUTONS TYROSINE KINASE

      Human molecular genetics
    40. VORECHOVSKY I; VIHINEN M; DESAINTBASILE G; HONSOVA S; HAMMARSTROM L; MULLER S; NILSSON L; FISCHER A; SMITH CIE
      DNA-BASED MUTATION ANALYSIS OF BRUTONS TYROSINE KINASE GENE IN PATIENTS WITH X-LINKED AGAMMAGLOBULINEMIA

      Human molecular genetics
    41. TRUEDSSON L; BASKIN B; PAN Q; RABBANI H; VORECHOVSKY I; SMITH CIE; HAMMARSTROM L
      GENETICS OF IGA DEFICIENCY

      APMIS. Acta pathologica, microbiologica et immunologica Scandinavica
    42. VORECHOVSKY I; KOSKINEN S; PAGANELLI R; SMITH CIE; BUSSLINGER M; HAMMARSTROM L
      THE PAX5 GENE - A LINKAGE AND MUTATION ANALYSIS IN CANDIDATE HUMAN PRIMARY IMMUNODEFICIENCIES

      Immunogenetics
    43. VORECHOVSKY I; ZETTERQUIST H; PAGANELLI R; KOSKINEN S; WEBSTER ADB; BJORKANDER J; SMITH CIE; HAMMARSTROM L
      FAMILY AND LINKAGE STUDY OF SELECTIVE IGA DEFICIENCY AND COMMON VARIABLE IMMUNODEFICIENCY

      Clinical immunology and immunopathology
    44. VORECHOVSKY I
      SSCP AT THE BTK LOCUS

      Human molecular genetics
    45. VORECHOVSKY I; KURZBAUER R; KOZMIK Z; HAMMARSTROM L; SMITH CIE; BUSSLINGER M
      SSCP SACI POLYMORPHISM IN THE PAX5 GENE

      Human molecular genetics
    46. VORECHOVSKY I; KOZMIK Z; HAMMARSTROM L; SMITH CIE; BUSSLINGER M
      AN INTRAGENIC TAQI RFLP AT THE PAX5 LOCUS

      Human molecular genetics
    47. VORECHOVSKY I; VETRIE D; HOLLAND J; BENTLEY DR; THOMAS K; ZHOU JN; NOTARANGELO LD; PLEBANI A; FONTAN G; OCHS HD; HAMMARSTROM L; SIDERAS P; SMITH CIE
      ISOLATION OF COSMID AND CDNA CLONES IN THE REGION SURROUNDING THE BTKGENE AT XQ21.3-Q22

      Genomics
    48. SMITH CIE; VORECHOVSKY I; SIDERAS P; BASKIN B; HAMMARSTROM L; BRANDEN L; MULLER S; XANTHOPOULOS KG; VETRIE D
      X-LINKED AGAMMAGLOBULINEMIA (XLA), A CANDIDATE DISEASE FOR GENE-THERAPY

      Journal of cellular biochemistry
    49. LOVERING RC; SWEATMAN A; GENET SA; MIDDLETONPRICE HR; VETRIE D; VORECHOVSKY I; BENTLEY D; FONTAN G; ESPANOL T; MORGAN G; LEVINSKY RJ; KINNON C
      IDENTIFICATION OF DELETIONS IN THE BTK GENE ALLOWS UNAMBIGUOUS ASSESSMENT OF CARRIER STATUS IN FAMILIES WITH X-LINKED AGAMMAGLOBULINEMIA

      Human genetics
    50. SMITH CIE; ISLAM KB; VORECHOVSKY I; OLERUP O; WALLIN E; RABBANI H; BASKIN B; HAMMARSTROM L
      X-LINKED AGAMMAGLOBULINEMIA AND OTHER IMMUNOGLOBULIN DEFICIENCIES

      Immunological reviews
    51. VIHINEN M; VETRIE D; MANIAR HS; OCHS HD; ZHU QL; VORECHOVSKY I; WEBSTER ADB; NOTARANGELO LD; NILSSON L; SOWADSKI JM; SMITH CIE
      STRUCTURAL BASIS FOR CHROMOSOME X-LINKED AGAMMAGLOBULINEMIA - A TYROSINE KINASE DISEASE

      Proceedings of the National Academy of Sciences of the United Statesof America
    52. GIBSON RA; FORD D; JANSEN S; SAVOIA A; HAVENGA C; MILNER RD; DERAVEL TJ; COHN RJ; BALL SE; ROBERTS I; LLERENA JC; VORECHOVSKY I; PEARSON T; BIRJANDI F; HUSSEIN SS; MURERORLANDO M; EASTON DF; MATHEW CG
      GENETIC-MAPPING OF THE FACC GENE AND LINKAGE ANALYSIS IN FANCONI-ANEMIA FAMILIES

      Journal of Medical Genetics
    53. SMITH CIE; BASKIN B; HUMIREGREIFF P; ZHOU JN; OLSSON PG; MANIAR HS; KJELLEN P; LAMBRIS JD; CHRISTENSSON B; HAMMARSTROM L; BENTLEY D; VETRIE D; ISLAM KB; VORECHOVSKY I; SIDERAS P
      EXPRESSION OF BRUTONS AGAMMAGLOBULINEMIA TYROSINE KINASE GENE, BTK, IS SELECTIVELY DOWN-REGULATED IN T-LYMPHOCYTES AND PLASMA-CELLS

      The Journal of immunology
    54. SMITH CIE; VORECHOVSKY I; SIDERAS P; HAMMARSTROM L; HOLLAND J; BENTLEY DR; VETRIE D
      A SEARCH FOR THE HUMAN XLA (X-LINKED AGAMMAGLOBULINEMIA) GENE, A CANDIDATE DISEASE FOR GENE-THERAPY

      Journal of cellular biochemistry
    55. VETRIE D; KENDALL E; VORECHOVSKY I; PARKINSON E; HOLLAND J; SIDERAS P; SMITH CIE; BOBROW M; BENTLEY DR
      IDENTIFICATION OF NOVEL GENES IN XQ22 - AN INTEGRATED APPROACH USING YAC, COSMID, AND CDNA RESOURCES

      Cytogenetics and cell genetics
    56. VORECHOVSKY I; ZHOU JN; HAMMARSTROM L; SMITH CIE; THOMAS JD; PAUL WE; NOTARANGELO LD; BERNATOWSKAMATUSZKIEWICZ E
      ABSENCE OF XID MUTATION IN X-LINKED AGAMMAGLOBULINEMIA

      Lancet
    57. THOMAS JD; SIDERAS P; SMITH CIE; VORECHOVSKY I; CHAPMAN V; PAUL WE
      COLOCALIZATION OF X-LINKED AGAMMAGLOBULINEMIA AND X-LINKED IMMUNODEFICIENCY GENES

      Science
    58. VORECHOVSKY I; SCOTT D; HAENEY MR; WEBSTER DAB
      CHROMOSOMAL RADIOSENSITIVITY IN COMMON VARIABLE IMMUNE-DEFICIENCY

      MUTATION RESEARCH


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Documento generato il 30/10/20 alle ore 03:57:07