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La ricerca find articoli where authors phrase all words 'Cheadle, JP' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 33 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. 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
    4. 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
    5. 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
    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 (vol 9, pg 1119, 2000)

      HUMAN MOLECULAR GENETICS
    7. 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
    8. 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
    9. 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
    10. Cheadle, JP; Reeve, MP; Sampson, JR; Kwiatkowski, DJ
      Molecular genetic advances in tuberous sclerosis

      HUMAN GENETICS
    11. 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
    12. Jones, AC; Austin, J; Hansen, N; Hoogendoorn, B; Oefner, PJ; Cheadle, JP; O'Donovan, MC
      Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis

      CLINICAL CHEMISTRY
    13. 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
    14. 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
    15. 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
    16. 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
    17. 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
    18. 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
    19. 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
    20. 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
    21. 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
    22. 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
    23. 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
    24. SCHWARZ MJ; MALONE GM; HAWORTH A; CHEADLE JP; MEREDITH AL; GARDNER A; SAWYER IH; CONNARTY M; DENNIS N; SELLER A; HARRIS A; TAYLOR R; DEAR S; MIDDLETONPRICE H; MCMAHON C; MAYALL E; MCMAHON R; BARTON DE; GILES M; LINDLEY V; PLAHA DS; PRICE S; SHARIF A; CROSS GS; DALTON A; TAYLOR G; WALLACE A; TASSABEHJI M; WHITTAKER JL; BUTLER R; CURTIS A; PINKETT R; GILFILLAN AJ; BROCK DJH; HIGGINS GS; LANYON G; MIEDZYBRODZKA Z; DAVIDSON M; GRAHAM CA; HILL AJM
      CYSTIC-FIBROSIS MUTATION ANALYSIS - REPORT FROM 22 UK REGIONAL GENETICS LABORATORIES

      Human mutation
    25. CHEADLE JP; MEREDITH AL; MILLARJONES L; GOODCHILD MC
      2 CF PATIENTS, ONE HOMOZYGOUS FOR THE 621-GREATER-THAN-T SPLICE MUTATION, THE OTHER HOMOZYGOUS FOR THE 1898+1G-GREATER-THAN-A SPLICE MUTATION(1G)

      Journal of Medical Genetics
    26. CHEADLE JP; BELLONI E; FERRARI M; MILLARJONES L; MEREDITH AL
      A NOVEL MUTATION (M1V) IN THE TRANSLATION INITIATION CODON OF THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR GENE, IN 3 CF CHROMOSOMES OF ITALIAN ORIGIN

      Human molecular genetics
    27. JAMES CM; HOULIHAN GD; SNELL RG; CHEADLE JP; HARPER PS
      LATE-ONSET HUNTINGTONS-DISEASE - A CLINICAL AND MOLECULAR STUDY

      Age and ageing
    28. SNELL RG; MACMILLAN JC; CHEADLE JP; FENTON I; LAZAROU LP; DAVIES P; MACDONALD ME; GUSELLA JF; HARPER PS; SHAW DJ
      RELATIONSHIP BETWEEN TRINUCLEOTIDE REPEAT EXPANSION AND PHENOTYPIC VARIATION IN HUNTINGTONS-DISEASE

      Nature genetics
    29. CHEADLE JP; ALJADER LN; MEREDITH AL
      A NOVEL NONSENSE MUTATION, W846XI (AMBER TERMINATION), IN EXON-14A OFTHE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR (CFTR) GENE

      Human molecular genetics
    30. CHEADLE JP; GOODCHILD MC; MEREDITH AL
      DIRECT SEQUENCING OF THE COMPLETE CFTR GENE - THE MOLECULAR CHARACTERIZATION OF 99.5-PERCENT OF CF CHROMOSOMES IN WALES

      Human molecular genetics
    31. MACMILLAN JC; SNELL RG; TYLER A; HOULIHAN GD; FENTON I; CHEADLE JP; LAZAROU LP; SHAW DJ; HARPER PS
      MOLECULAR ANALYSIS AND CLINICAL CORRELATIONS OF THE HUNTINGTONS-DISEASE MUTATION

      Lancet
    32. CHEADLE JP; ALJADER LN; GOODCHILD MC; MEREDITH AL
      DIRECT SEQUENCING OF THE COMPLETE CFTR GENE - THE CHARACTERIZATION OFOVER 99-PERCENT OF CF MUTATIONS IN WALES

      American journal of human genetics
    33. SNELL RG; MACMILLAN JC; CHEADLE JP; FENTON I; LAZAROU LP; DAVIES P; HARPER PS; SHAW DJ
      THE ANALYSIS OF THE EXPANDED TRINUCLEOTIDE REPEAT CAUSING HUNTINGTONS-DISEASE IN 440 PATIENTS FROM 269 KINDREDS

      American journal of human genetics


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Documento generato il 04/12/20 alle ore 19:02:16