Catalogo Articoli (Spogli Riviste)

HELP
ATTENZIONE: attualmente gli articoli Current Contents (fonte ISI) a partire dall'anno 2002 sono consultabili sulla Risorsa On-Line

Le informazioni sugli articoli di fonte ISI sono coperte da copyright

La ricerca find articoli where soggetti phrase all words 'TSC1' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 34 riferimenti
Selezionare un intervallo

Per ulteriori informazioni selezionare i riferimenti di interesse.

    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. Strizheva, GD; Carsillo, T; Kruger, WD; Sullivan, EJ; Ryu, JH; Henske, EP
      The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis

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

      MODERN PATHOLOGY
    4. Catania, MG; Johnson, MW; Liau, LM; Krelllen, TJ; deVellis, JS; Vinters, HV
      Hamartin expression and interaction with tuberin in tumor cell lines and primary cultures

      JOURNAL OF NEUROSCIENCE RESEARCH
    5. Hengstschlager, M
      Tuberous sclerosis complex genes: from flies to human genetics

      ARCHIVES OF DERMATOLOGICAL RESEARCH
    6. Neumann, HPH; Schulenburg, S; Apel, TW
      Familial renal tumors in adults

      NIEREN-UND HOCHDRUCKKRANKHEITEN
    7. Benit, P; Bonnefont, JP; Mostefa, AK; Francannet, C; Munnich, A; Ray, PF
      Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

      PRENATAL DIAGNOSIS
    8. 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
    9. 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
    10. Arbuckle, HA; Morelli, JG
      Pigmentary disorders: update on neurofibromatosis-1 and tuberous sclerosis

      CURRENT OPINION IN PEDIATRICS
    11. Caspi, M; Atlas, R; Kantor, A; Sapir, T; Reiner, O
      Interaction between LIS1 and doublecortin, two lissencephaly gene products

      HUMAN MOLECULAR GENETICS
    12. Murthy, V; Haddad, LA; Smith, N; Pinney, D; Tyszkowski, R; Brown, D; Ramesh, V
      Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney

      AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
    13. Kutsche, K; Glauner, E; Knauf, S; Pomarino, A; Schmidt, M; Schroder, B; Nothwang, HG; Schuler, HM; Goecke, TO; Kersten, AJ; Althaus, C; Gal, A
      Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium

      CYTOGENETICS AND CELL GENETICS
    14. Yamashita, Y; Ono, J; Okada, S; Wataya-Kaneda, M; Yoshikawa, K; Nishizawa, M; Hirayama, Y; Kobayashi, E; Seyama, K; Hino, O
      DAnalysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: Report of 10 mutations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    15. O'Callaghan, FJ; Osborne, JP
      Advances in the understanding of tuberous sclerosis

      ARCHIVES OF DISEASE IN CHILDHOOD
    16. Mizuguchi, M; Ikeda, K; Takashima, S
      Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis

      ACTA NEUROPATHOLOGICA
    17. Gilbert, JR; Kumar, A; Newey, S; Rao, N; Ioannou, P; Qiu, H; Lin, D; Xu, P; Pettenati, MJ; Pericak-Vance, MA
      Physical and cDNA mapping in the DBH region of human chromosome 9q34

      HUMAN HEREDITY
    18. 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
    19. 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
    20. 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
    21. 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
    22. O'Callaghan, FJK
      Tuberous sclerosis - Epidemiological research is needed to complement new findings in genetics.

      BRITISH MEDICAL JOURNAL
    23. Hornigold, N; Devlin, J; Davies, AM; Aveyard, JS; Habuchi, T; Knowles, MA
      Mutation of the 9q34 gene TSC1 in sporadic bladder cancer

      ONCOGENE
    24. Vinters, HV; Park, SH; Johnson, MW; Mischel, PS; Catania, M; Kerfoot, C
      Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes

      DEVELOPMENTAL NEUROSCIENCE
    25. Keller, MP; Seifried, BA; Rabin, BA; Chance, PF
      Mapping of the kinesin-related gene ATSV to chromosome 2q37

      HUMAN GENETICS
    26. 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
    27. Zhang, HD; Yamamoto, T; Nanba, E; Kitamura, Y; Terada, T; Akaboshi, S; Yuasa, I; Ohtani, K; Nakamoto, S; Takeshita, K; Ohno, K
      Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: Lack of loss of heterozygosity in a lung cyst

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Nellist, M; van Slegtenhorst, MA; Goedbloed, M; van den Ouweland, AMW; Halley, DJJ; van der Sluijs, P
      Characterization of the cytosolic tuberin-hamartin complex - Tuberin is a cytosolic chaperone for hamartin

      JOURNAL OF BIOLOGICAL CHEMISTRY
    29. Roach, ES; Gomez, MR; Northrup, H
      Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria

      JOURNAL OF CHILD NEUROLOGY
    30. ALI JBM; SEPP T; WARD S; GREEN AJ; YATES JRW
      MUTATIONS IN THE TSC1 GENE ACCOUNT FOR A MINORITY OF PATIENTS WITH TUBEROUS SCLEROSIS

      Journal of Medical Genetics
    31. ALSALEEM T; WESSNER LL; SCHEITHAUER BW; PATTERSON K; ROACH ES; DREYER SJ; FUJIKAWA K; BJORNSSON J; BERNSTEIN J; HENSKE EP
      MALIGNANT-TUMORS OF THE KIDNEY, BRAIN, AND SOFT-TISSUES IN CHILDREN AND YOUNG-ADULTS WITH THE TUBEROUS SCLEROSIS COMPLEX

      Cancer
    32. BAUMGARTNER JE; WHELESS JW; KULKARNI S; NORTHRUP H; AU KS; SMITH A; BROOKSHIR B
      ON THE SURGICAL-TREATMENT OF REFRACTORY EPILEPSY IN TUBEROUS SCLEROSIS COMPLEX

      Pediatric neurosurgery
    33. AU KS; MURRELL J; BUCKLER A; BLANTON SH; NORTHRUP H
      REPORT OF A CRITICAL RECOMBINATION FURTHER NARROWING THE TSC1 REGION

      Journal of Medical Genetics
    34. HENSKE EP; SCHEITHAUER BW; SHORT MP; WOLLMANN R; NAHMIAS J; HORNIGOLD N; VANSLEGTENHORST M; WELSH CT; KWIATKOWSKI DJ
      ALLELIC LOSS IS FREQUENT IN TUBEROUS SCLEROSIS KIDNEY LESIONS BUT RARE IN BRAIN-LESIONS

      American journal of human genetics


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/01/21 alle ore 22:22:25