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La ricerca find articoli where authors phrase all words ' Sampson, JR' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 47 riferimenti
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    1. Jones, AC; Sampson, JR; Cheadle, JP
      Lowe level mosaicism detectable by DHPLC but not by direct sequencing

      HUMAN MUTATION
    2. Soucek, T; Rosner, M; Miloloza, A; Kubista, M; Cheadle, JP; Sampson, JR; Hengstschlager, M
      Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression

      ONCOGENE
    3. Lewis, JC; Tomkins, S; Sampson, JR
      Ethical approval for research involving geographically dispersed subjects:unsuitability of the UK MREC/LREC system and relevance to uncommon geneticdisorders

      JOURNAL OF MEDICAL ETHICS
    4. Fleming, N; Maynard, J; Tzitzis, L; Sampson, JR; Cheadle, JP
      LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures

      JOURNAL OF BIOCHEMICAL AND BIOPHYSICAL METHODS
    5. Parry, L; Maynard, JH; Patel, A; Clifford, SC; Morrissey, C; Maher, ER; Cheadle, JP; Sampson, JR
      Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas

      BRITISH JOURNAL OF CANCER
    6. Cheadle, JP; Gill, H; Fleming, N; Maynard, J; Kerr, A; Leonard, H; Krawczak, M; Cooper, DN; Lynch, S; Thomas, N; Hughes, H; Hulten, M; Ravine, D; Sampson, JR; Clarke, A
      Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

      HUMAN MOLECULAR GENETICS
    7. Cheadle, JP; Gill, H; Fleming, N; Maynard, J; Kerr, A; Leonard, H; Krawczak, M; Cooper, DN; Lynch, S; Thomas, N; Hughes, H; Hulten, M; Ravine, D; Sampson, JR; Clarke, A
      Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location (vol 9, pg 1119, 2000)

      HUMAN MOLECULAR GENETICS
    8. Benvenuto, G; Li, SW; Brown, SJ; Braverman, R; Vass, WC; Cheadle, JP; Halley, DJJ; Sampson, JR; Wienecke, R; DeClue, JE
      The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

      ONCOGENE
    9. Cheadle, JP; Dobbie, L; Idziaszczyk, S; Hodges, AK; Smith, AJH; Sampson, JR; Young, J
      Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus

      MAMMALIAN GENOME
    10. Parry, L; Maynard, JH; Patel, A; Hodges, AK; von Deimling, A; Sampson, JR; Cheadle, JP
      Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours

      HUMAN GENETICS
    11. Cheadle, JP; Reeve, MP; Sampson, JR; Kwiatkowski, DJ
      Molecular genetic advances in tuberous sclerosis

      HUMAN GENETICS
    12. Jones, AC; Sampson, JR; Hoogendoorn, B; Cohen, D; Cheadle, JP
      Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

      HUMAN GENETICS
    13. Osborne, JP; Jones, AC; Burley, MW; Jeganathan, D; Young, J; O'Callaghan, FJ; Sampson, JR; Povey, S
      Non-penetrance in tuberous sclerosis

      LANCET
    14. Woodford-Richens, K; Bevan, S; Churchman, M; Dowling, B; Jones, D; Norbury, CG; Hodgson, SV; Desai, D; Neale, K; Phillips, RKS; Young, J; Leggett, B; Dunlop, M; Rozen, P; Eng, C; Markie, D; Rodriguez-Bigas, MA; Sheridan, E; Iwama, T; Eccles, D; Smith, GT; Kim, JC; Kim, KM; Sampson, JR; Evans, G; Tejpar, S; Bodmer, WF; Tomlinson, IPM; Houlston, RS
      Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

      GUT
    15. Jones, AC; Shyamsundar, MM; Thomas, MW; Maynard, J; Idziaszczyk, S; Tomkins, S; Sampson, JR; Cheadle, JP
      Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis

      AMERICAN JOURNAL OF HUMAN GENETICS
    16. SAKS ME; SAMPSON JR; ABELSON J
      EVOLUTION OF A TRANSFER-RNA GENE THROUGH A POINT MUTATION IN THE ANTICODON

      Science
    17. JONES AC; DANIELLS CE; SNELL RG; TACHATAKI M; IDZIASZCZYK SA; KRAWCZAK M; SAMPSON JR; CHEADLE JP
      MOLECULAR-GENETIC AND PHENOTYPIC ANALYSIS REVEALS DIFFERENCES BETWEENTSC1 AND TSC2 ASSOCIATED FAMILIAL AND SPORADIC TUBEROUS SCLEROSIS

      Human molecular genetics
    18. MAHESHWAR MM; CHEADLE JP; JONES AC; MYRING J; FRYER AE; HARRIS PC; SAMPSON JR
      THE GAP-RELATED DOMAIN OF TUBERIN, THE PRODUCT OF THE TSC2 GENE, IS ATARGET FOR MISSENSE MUTATIONS IN TUBEROUS SCLEROSIS

      Human molecular genetics
    19. KOBAYASHI T; URAKAMI S; CHEADLE JP; ASPINWALL R; HARRIS P; SAMPSON JR; HINO O
      IDENTIFICATION OF A LEADER EXON AND A CORE PROMOTER FOR THE RAT TUBEROUS SCLEROSIS-2 (TSC2) GENE AND STRUCTURAL COMPARISON WITH THE HUMAN HOMOLOG

      Mammalian genome
    20. PASTOROK RA; MACDONALD A; SAMPSON JR; WILBER P; YOZZO DJ; TITRE JP
      AN ECOLOGICAL DECISION FRAMEWORK FOR ENVIRONMENTAL RESTORATION PROJECTS

      Ecological engineering
    21. THOMPSON PW; SAMPSON JR; MAHESHWAR MM; ASPINWALL P; CHEADLE J; RAVINE D; ROY S; HAAN E; BERNSTEIN J; HARRIS PC
      THE ROLE OF FISH IN INVESTIGATING DELETIONS OF THE TSC2 AND PKD1 GENEREGION AT CHROMOSOME 16P13.3

      Cytogenetics and cell genetics
    22. VANSLEGTENHORST M; DEHOOGT R; HERMANS C; NELLIST M; JANSSEN B; VERHOEF S; LINDHOUT D; VANDENOUWELAND A; HALLEY D; YOUNG J; BURLEY M; JEREMIAH S; WOODWARD K; NAHMIAS J; FOX M; EKONG R; OSBORNE J; WOLFE J; POVEY S; SNELL RG; CHEADLE JP; JONES AC; TACHATAKI M; RAVINE D; SAMPSON JR; REEVE MP; RICHARDSON P; WILMER F; MUNRO C; HAWKINS TL; SEPP T; ALI JBM; WARD S; GREEN AJ; YATES JRW; KWIATKOWSKA J; HENSKE EP; SHORT MP; HAINES JH; JOZWIAK S; KWIATKOWSKI DJ
      IDENTIFICATION OF THE TUBEROUS SCLEROSIS GENE TSC1 ON CHROMOSOME 9Q34

      Science
    23. ASPINWALL R; ROTHWELL DG; ROLDANARJONA T; ANSELMINO C; WARD CJ; CHEADLE JP; SAMPSON JR; LINDAHL T; HARRIS PC; HICKSON ID
      CLONING AND CHARACTERIZATION OF A FUNCTIONAL HUMAN HOMOLOG OF ESCHERICHIA-COLI ENDONUCLEASE-III

      Proceedings of the National Academy of Sciences of the United Statesof America
    24. PLATTEN M; MEYERPUTTLITZ B; BLUMCKE I; WAHA A; WOLF HK; NOTHEN MM; LOUIS DN; SAMPSON JR; VONDEIMLING A
      A NOVEL SPLICE-SITE ASSOCIATED POLYMORPHISM IN THE TUBEROUS SCLEROSIS2 (TSC2) GENE MAY PREDISPOSE TO THE DEVELOPMENT OF SPORADIC GANGLIOGLIOMAS

      Journal of neuropathology and experimental neurology
    25. KWIATKOWSKI DJ; HENSKE EP; KWIATKOWSKA J; YOUNG J; BURLEY M; JEREMIAH S; WOODWARD K; NAHMIAS J; FOX M; EKONG R; WOLFE J; POVEY S; OSBORNE J; SNELL RG; CHEADLE JP; JONES AC; TACHATAKI M; RAVINE D; SAMPSON JR; REEVE MP; RICHARDSON P; WILMER F; MUNRO C; HAWKINS TL; SEPP T; ALI JBM; WARD S; GREEN AJ; YATES JRW; SHORT MP; HAINES JH; JOZWIAK S; VANSLEGTENHORST M; DEHOOGT R; HERMANS C; NELLIST M; JANSSEN B; VERHOEF S; LINDHOUT D; VANDENOUWELAND A; HALLEY D
      IDENTIFICATION OF THE TUBEROUS SCLEROSIS GENE (TSC1) ON CHROMOSOME 9Q34

      American journal of human genetics
    26. CHEADLE JP; JONES AC; DANIELS CE; SNELL RG; TACHATAKI M; SAMPSON JR
      TSC1 MUTATIONS ARE RELATIVELY RARE IN SPORADIC TUBEROUS SCLEROSIS

      American journal of human genetics
    27. SAMPSON JR; MAHESHWAR MM; ASPINWALL R; THOMPSON P; CHEADLE JP; RAVINE D; ROY S; HAAN E; BERNSTEIN J; HARRIS PC
      RENAL CYSTIC-DISEASE IN TUBEROUS SCLEROSIS - ROLE OF THE POLYCYSTIC KIDNEY-DISEASE-1 GENE

      American journal of human genetics
    28. MAHESHWAR MM; SANDFORD R; NELLIST M; CHEADLE JP; SGOTTO B; VAUDIN M; SAMPSON JR
      COMPARATIVE-ANALYSIS AND GENOMIC STRUCTURE OF THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE IN HUMAN AND PUFFERFISH (VOL 5, PG 131, 1996)

      Human molecular genetics
    29. MAHESHWAR MM; SANDFORD R; NELLIST M; CHEADLE JP; SGOTTO B; VAUDIN M; SAMPSON JR
      COMPARATIVE-ANALYSIS AND GENOMIC STRUCTURE OF THE TUBEROUS-SCLEROSIS-2 (TSC2) GENE IN HUMAN AND PUFFERFISH

      Human molecular genetics
    30. SAMPSON JR
      THE KIDNEY IN TUBEROUS SCLEROSIS - MANIFESTATIONS AND MOLECULAR-GENETIC MECHANISMS

      Nephrology, dialysis, transplantation
    31. SAKS ME; SAMPSON JR; NOWAK MW; KEARNEY PC; DU FY; ABELSON JN; LESTER HA; DOUGHERTY DA
      AN ENGINEERED TETRAHYMENA TRNA(GLN) FOR IN-VIVO INCORPORATION OF UNNATURAL AMINO-ACIDS INTO PROTEINS BY NONSENSE SUPPRESSION

      The Journal of biological chemistry
    32. KEARNEY PC; ZHONG W; NOWAK MW; SILVERMAN SK; ZHANG H; LABARCA C; SAKS ME; SAMPSON JR; GALLIVAN JP; ABELSON J; DAVIDSON N; DOUGHERTY DA; LESTER HA
      INTERACTIONS OF LEUCINE RESIDUES AT THE 9'-POSITION OF THE M2 DOMAIN OF THE ACHR PROBED USING UNNATURAL AMINO-ACID MUTAGENESIS

      Biophysical journal
    33. NOWAK MW; KEARNEY PC; ZHONG W; SILVERMAN SK; LABARCA CG; SAKS ME; SAMPSON JR; ABELSON J; DAVIDSON N; DOUGHERTY DA; LESTER HA
      EXAMINATION OF AGONIST INTERACTIONS WITH UNNATURAL NICOTINIC ACETYLCHOLINE-RECEPTOR MUTANTS

      Biophysical journal
    34. XU L; STERNER C; MAHESHWAR MM; WILSON PJ; NELLIST M; SHORT PM; HAINES JL; SAMPSON JR; RAMESH V
      ALTERNATIVE SPLICING OF THE TUBEROUS SCLEROSIS-2 (TSC2) GENE IN HUMANAND MOUSE-TISSUES

      Genomics
    35. NOWAK MW; KEARNEY PC; SAMPSON JR; SAKS ME; LABARCA CG; SILVERMAN SK; ZHONG WG; THORSON J; ABELSON JN; DAVIDSON N; SCHULTZ PG; DOUGHERTY DA; LESTER HA
      NICOTINIC RECEPTOR-BINDING SITE PROBED WITH UNNATURAL AMINO-ACID-INCORPORATION IN INTACT-CELLS

      Science
    36. SAKS ME; SAMPSON JR
      EVOLUTION OF TRANSFER-RNA RECOGNITION SYSTEMS AND TRANSFER-RNA GENE-SEQUENCES

      Journal of molecular evolution
    37. SAMPSON JR; PATEL A; MEE AD
      MULTIFOCAL RENAL-CELL CARCINOMA IN SIBS FROM A CHROMOSOME-9 LINKED (TSC1) TUBEROUS SCLEROSIS FAMILY

      Journal of Medical Genetics
    38. BROOKCARTER PT; PERAL B; WARD CJ; THOMPSON P; HUGHES J; MAHESHWAR MM; NELLIST M; GAMBLE V; HARRIS PC; SAMPSON JR
      DELETION OF THE TSC2 AND PKD1 GENES ASSOCIATED WITH SEVERE INFANTILE POLYCYSTIC KIDNEY-DISEASE - A CONTIGUOUS GENE SYNDROME

      Nature genetics
    39. SAMPSON JR; HARRIS PC
      THE MOLECULAR-GENETICS OF TUBEROUS SCLEROSIS

      Human molecular genetics
    40. PASTOROK RA; PEEK DC; SAMPSON JR; JACOBSON MA
      ECOLOGICAL RISK ASSESSMENT FOR RIVER SEDIMENTS CONTAMINATED BY CREOSOTE

      Environmental toxicology and chemistry
    41. WARD CJ; PERAL B; HUGHES J; THOMAS S; GAMBLE V; MACCARTHY AB; SLOANESTANLEY J; BUCKLE VJ; KEARNEY L; HIGGS DR; RATCLIFFE PJ; HARRIS PC; ROELFSEMA JH; SPRUIT L; SARIS JJ; DAUWERSE HG; PETERS DJM; BREUNING MH; NELLIST M; BROOKCARTER PT; MAHESHWAR MM; CORDEIRO I; SANTOS H; CABRAL P; SAMPSON JR; JANSSEN B; HESSELINGJANSSEN ALW; VANDENOUWELAND AMW; EUSSEN B; VERHOEF S; LINDHOUT D; HALLEY DJJ
      THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16

      Cell
    42. SAKS ME; SAMPSON JR; ABELSON JN
      THE TRANSFER-RNA IDENTITY PROBLEM - A SEARCH FOR RULES

      Science
    43. SAMPSON JR; SAKS ME
      CONTRIBUTIONS OF DISCRETE TRANSFER RNA(SER) DOMAINS TO AMINO-ACYLATION BY ESCHERICHIA-COLI SERYL-TRANSFER RNA-SYNTHETASE - A KINETIC-ANALYSIS USING MODEL RNA SUBSTRATES

      Nucleic acids research
    44. BROOKCARTER PB; DANIELS I; NELLIST M; KWIATKOWSKI D; JANSSEN LAJ; JANSSEN ALWH; VERHOEF S; LINDHOUT D; HALLEY DJJ; SAMPSON JR
      INVESTIGATION OF THE CHROMOSOME-9 AND CHROMOSOME-16 TUBEROUS SCLEROSIS LOCI BY HAPLOTYPE ANALYSIS

      Cytogenetics and cell genetics
    45. JANSSEN LAJ; NELLIST M; EUSSEN BE; RAMLAKHAN S; SAMPSON JR; HESSELINGJANSSEN ALW; VERHOEF S; LINDHOUT D; HALLEY DJJ
      THE MAP POSITION OF 3 CANDIDATE GENES FOR TUBEROUS SCLEROSIS-1 - XPAC, DBH AND TAN1

      Cytogenetics and cell genetics
    46. NELLIST M; JANSSEN LAJ; HESSELINGJANSSEN ALW; RAMLAKHAN S; EUSSEN HJ; HALLEY DJJ; SAMPSON JR; BROOKCARTER P; KWIATKOWSKI D; DEJONG PJ
      IDENTIFICATION OF YACS AND COSMIDS FROM THE TSC1 CANDIDATE REGION ON 9Q34

      Cytogenetics and cell genetics
    47. NELLIST M; JANSSEN B; BROOKCARTER PT; HESSELINGJANSSEN ALW; MAHESHWAR MM; VERHOEF S; VANDENOUWELAND AMW; LINDHOUT D; EUSSEN B; CORDEIRO I; SANTOS H; HALLEY DJJ; SAMPSON JR; WARD CJ; PERAL B; THOMAS S; HUGHES J; HARRIS PC; ROELFSEMA JH; SARIS JJ; SPRUIT L; PETERS DJM; DAUWERSE JG; BREUNING MH
      IDENTIFICATION AND CHARACTERIZATION OF THE TUBEROUS SCLEROSIS GENE ONCHROMOSOME-16

      Cell


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Documento generato il 04/12/20 alle ore 18:57:02