Catalogo Articoli (Spogli Riviste)

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La ricerca find articoli where soggetti phrase all words 'LOW-PENETRANCE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 24 riferimenti
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    1. Alonso, J; Garcia-Miguel, P; Abelairas, J; Mendiola, M; Pestana, A
      A microsatellite fluorescent method for linkage analysis in familial retinoblastoma and deletion detection at the RBI locus in retinoblastoma and osteosarcoma

      DIAGNOSTIC MOLECULAR PATHOLOGY
    2. Gimm, O; Dziema, H; Brown, J; Cuong, HV; Hinze, R; Dralle, H; Mulligan, LM; Eng, C
      Over-representation of a germline variant in the gene encoding RET co-receptor GFR alpha-1 but not GFR alpha-2 or GFR alpha-3 in cases with sporadic medullary thyroid carcinoma

      ONCOGENE
    3. Najera, C; Sanchez, F; Mateu, E; Prieto, F; Beneyto, M
      Early diagnosis of retinoblastoma: usefulness of searching for RB1 gene mutations

      MEDICINA CLINICA
    4. Murakami, T; Warita, H; Hayashi, T; Sato, K; Manabe, Y; Mizuno, S; Yamane, K; Abe, K
      A novel SOD1 gene mutation in familial ALS with low penetrance in females

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    5. Neuhausen, SL
      The role of candidate genetic polymorphisms in the etiology of prostate cancer

      PROSTATE CANCER AND PROSTATIC DISEASES
    6. DiCiommo, D; Gallie, BL; Bremner, R
      Retinoblastoma: the disease, gene and protein provide critical leads to understand cancer

      SEMINARS IN CANCER BIOLOGY
    7. Weber, BL; Nathanson, KL
      Low penetrance genes associated with increased risk for breast cancer

      EUROPEAN JOURNAL OF CANCER
    8. Sanchez, F; Mateu, E; Beneyto, M; Najera, C; Prieto, F
      A constitutional homozygous mutation in the RB1 gene in a patient with unilateral retinoblastoma

      JOURNAL OF MEDICAL GENETICS
    9. Houlston, RS; Tomlinson, IPM
      Detecting low penetrance genes in cancer: the way ahead

      JOURNAL OF MEDICAL GENETICS
    10. Drucker, L; Shpilberg, O; Neumann, A; Shapira, J; Stackievicz, R; Beyth, Y; Yarkoni, S
      Adenomatous polyposis coli I1307K mutation in Jewish patients with different ethnicity - Prevalence and phenotype

      CANCER
    11. Hamel, N; Black, MJ; Ghadirian, P; Foulkes, WD
      No association between P53 codon 72 polymorphism and risk of squamous cellcarcinoma of the head and neck

      BRITISH JOURNAL OF CANCER
    12. Singh, AD; Santos, MCM; Shields, CL; Shields, JA; Eagle, RC
      Observations on 17 patients with retinocytoma

      ARCHIVES OF OPHTHALMOLOGY
    13. Lohmann, DR
      RB1 gene mutations in retinoblastoma

      HUMAN MUTATION
    14. Doostzadeh-Cizeron, J; Evans, R; Yin, SM; Goodrich, DW
      Apoptosis induced by the nuclear death domain protein p84N5 is inhibited by association with Rb protein

      MOLECULAR BIOLOGY OF THE CELL
    15. Lee, KY; Ladha, MH; McMahon, C; Ewen, ME
      The retinoblastoma protein is linked to the activation of Ras

      MOLECULAR AND CELLULAR BIOLOGY
    16. Borrego, S; Saez, ME; Ruiz, A; Gimm, O; Lopez-Alonso, M; Antinolo, G; Eng, C
      Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

      JOURNAL OF MEDICAL GENETICS
    17. BYRNE PC; WEBB S; MCSWEENEY F; BURKE T; HUTCHINSON M; PARFREY NA
      LINKAGE OF AD HSP AND COGNITIVE IMPAIRMENT TO CHROMOSOME 2P - HAPLOTYPE AND PHENOTYPE ANALYSIS INDICATES VARIABLE EXPRESSION AND LOW OR DELAYED PENETRANCE

      European journal of human genetics
    18. HARBOUR JW
      OVERVIEW OF RB GENE-MUTATIONS IN PATIENTS WITH RETINOBLASTOMA - IMPLICATIONS FOR CLINICAL GENETIC SCREENING

      Ophthalmology (Rochester, Minn.)
    19. RILEY DJ; LIU CY; LEE WH
      MUTATIONS OF N-TERMINAL REGIONS RENDER THE RETINOBLASTOMA PROTEIN INSUFFICIENT FOR FUNCTIONS IN DEVELOPMENT AND TUMOR SUPPRESSION

      Molecular and cellular biology
    20. ONADIM Z; WOOLFORD AJ; KINGSTON JE; HUNGERFORD JL
      THE RB1 GENE MUTATION IN A CHILD WITH ECTOPIC INTRACRANIAL RETINOBLASTOMA

      British Journal of Cancer
    21. BASER ME; RAGGE NK; RICCARDI VM; JANUS T; GANTZ B; PULST SM
      PHENOTYPIC VARIABILITY IN MONOZYGOTIC TWINS WITH NEUROFIBROMATOSIS-2

      American journal of medical genetics
    22. BIA B; COWELL JK
      INDEPENDENT CONSTITUTIONAL GERMLINE MUTATIONS OCCURRING IN THE RB1 GENE IN COUSINS WITH BILATERAL RETINOBLASTOMA

      Oncogene
    23. SPURR NK; GOUGH AC; CHINEGWUNDOH FI; SMITH CAD
      POLYMORPHISMS IN DRUG-METABOLIZING-ENZYMES AS MODIFIERS OF CANCER RISK

      Clinical chemistry
    24. MUNIER FL; ARABIEN L; FLODMAN P; SPENCE MA; PESCIA G; RUTZ HP; MURPHREE AL
      PUTATIVE NON-MENDELIAN TRANSMISSION OF RETINOBLASTOMA IN MALES - A PHENOTYPIC SEGREGATION ANALYSIS OF 150 PEDIGREES

      Human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/05/20 alle ore 00:48:04