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La ricerca find articoli where soggetti phrase all words 'hamartin' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 30 riferimenti
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    1. Hengstschlager, M; Rodman, DM; Miloloza, A; Hengstschlager-Ottnad, E; Rosner, M; Kubista, M
      Tuberous sclerosis gene products in proliferation control

      MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
    2. MacCollin, M; Kwiatkowski, D
      Molecular genetic aspects of the phakomatoses: tuberous sclerosis complex and neurofibromatosis 1

      CURRENT OPINION IN NEUROLOGY
    3. Yu, J; Astrinidis, A; Henske, EP
      Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    4. 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
    5. Johnson, MW; Kerfoot, C; Bushnell, T; Li, M; Vinters, HV
      Hamartin and tuberin expression in human tissues

      MODERN PATHOLOGY
    6. Mizuguchi, M; Takashima, S
      Neuropathology of tuberous sclerosis

      BRAIN & DEVELOPMENT
    7. Wataya-Kaneda, M; Kaneda, Y; Hino, O; Adachi, H; Hirayama, Y; Seyama, K; Satou, T; Yoshikawa, K
      Cells derived from tuberous sclerosis show a prolonged S phase of the cellcycle and increased apoptosis

      ARCHIVES OF DERMATOLOGICAL RESEARCH
    8. Hengstschlager, M
      Tuberous sclerosis complex genes: from flies to human genetics

      ARCHIVES OF DERMATOLOGICAL RESEARCH
    9. Becker, AJ; Lobach, M; Klein, H; Normann, S; Nothen, MM; von Deimling, A; Mizuguchi, M; Elger, CE; Schramm, J; Wiestler, OD; Blumcke, I
      Mutational analysis of TSC1 and TSC2 genes in gangliogliomas

      NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
    10. Torres, VE; King, BF; McKusick, MA; Bjornsson, J; Zincke, H
      Update on tuberous sclerosis complex

      RARE KIDNEY DISEASES
    11. Tapon, N; Ito, N; Dickson, BJ; Treisman, JE; Hariharan, IK
      The Drosophila tuberous sclerosis complex gene homologs restrict cell growth and cell proliferation

      CELL
    12. Potter, CJ; Huang, H; Xu, T
      Drosophila Tsc1 functions with Tsc2 to antagonize insulin signaling in regulating cell growth, cell proliferation, and organ size

      CELL
    13. Catania, MG; Mischel, PS; Vinters, HV
      Hamartin and tuberin interaction with the G2/M cyclin-dependent kinase CDK1 and its regulatory cyclins A and B

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    14. Arbiser, JL; Yeung, R; Weiss, SW; Arbiser, ZK; Amin, MB; Cohen, C; Frank, D; Mahajan, S; Herron, GS; Yang, JW; Onda, H; Zhang, HB; Bai, XH; Uhlmann, E; Loehr, A; Northrup, H; Au, P; Davis, I; Fisher, DE; Gutmann, DH
      The generation and characterization of a cell line derived from a sporadicrenal angiomyolipoma - Use of telomerase to obtain stable populations of cells from benign neoplasms

      AMERICAN JOURNAL OF PATHOLOGY
    15. Murthy, V; Stemmer-Rachamimov, AO; Haddad, LA; Roy, JE; Cutone, AN; Beauchamp, RL; Smith, N; Louis, DN; Ramesh, V
      Developmental expression of the tuberous sclerosis proteins tuberin and hamartin

      ACTA NEUROPATHOLOGICA
    16. Yokoo, H; Isoda, K; Nakazato, Y; Nakayama, Y; Suzuki, Y; Nakamura, T; Shinkai, H; Aiba, M
      Retroperitoneal epithelioid angiomyolipoma leading to fatal outcome

      PATHOLOGY INTERNATIONAL
    17. Aubry, MC; Myers, JL; Ryu, JH; Henske, EP; Logginidou, H; Jalal, SM; Tazelaar, HD
      Pulmonary lymphangioleiomyomatosis in a man

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    18. Benit, P; Kara-Mostefa, A; Berthelon, M; Sengmany, K; Munnich, A; Bonnefont, JP
      Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography

      HUMAN MUTATION
    19. Caspi, M; Atlas, R; Kantor, A; Sapir, T; Reiner, O
      Interaction between LIS1 and doublecortin, two lissencephaly gene products

      HUMAN MOLECULAR GENETICS
    20. Mayer, K; Ballhausen, W; Leistner, W; Rott, HD
      Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    21. Fukuda, T; Kobayashi, T; Momose, S; Yasui, H; Hino, O
      Distribution of Tsc1 protein detected by immunohistochemistry in various normal rat tissues and the renal carcinomas of Eker rat: Detection of limited colocalization with Tsc1 and Tsc2 gene products in vivo

      LABORATORY INVESTIGATION
    22. Fukuda, T; Tani, Y; Kobayashi, T; Hirayama, Y; Hino, O
      A new Western blotting method using polymer immunocomplexes: Detection of Tsc1 and Tsc2 expression in various cultured cell lines

      ANALYTICAL BIOCHEMISTRY
    23. Mizuguchi, M; Ikeda, K; Takashima, S
      Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis

      ACTA NEUROPATHOLOGICA
    24. Zhang, H; Nanba, E; Yamamoto, T; Ninomiya, H; Ohno, K; Mizuguchi, M; Takeshita, K
      Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex

      JOURNAL OF HUMAN GENETICS
    25. Mayer, K; Ballhausen, W; Rott, HD
      Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test PTT identifies frequent splicing defects

      HUMAN MUTATION
    26. Niida, Y; Lawrence-Smith, N; Banwell, A; Hammer, E; Lewis, J; Beauchamp, RL; Sims, K; Ramesh, VL; Ozelius, L
      Analysis of both TCS1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

      HUMAN MUTATION
    27. Benit, P; Kara-Mostefa, A; Hadj-Rabia, S; Munnich, A; Bonnefont, JP
      Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

      HUMAN MUTATION
    28. Plank, TL; Logginidou, H; Klein-Szanto, A; Henske, EP
      The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2-linked angiomyolipomas

      MODERN PATHOLOGY
    29. Smith, M; Sperling, D
      Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas

      AMERICAN JOURNAL OF MEDICAL GENETICS
    30. 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


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/21 alle ore 06:11:23