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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
   
   M. Hengstschlager et al., "Tuberous sclerosis gene products in proliferation control", MUT RES-R M, 488(3), 2001, pp. 233-239
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
   
   G.D. Strizheva et al., "The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis", AM J R CRIT, 163(1), 2001, pp. 253-258
3. Johnson, MW; Kerfoot, C; Bushnell, T; Li, M; Vinters, HV
   Hamartin and tuberin expression in human tissues
   MODERN PATHOLOGY
   
   M.W. Johnson et al., "Hamartin and tuberin expression in human tissues", MOD PATHOL, 14(3), 2001, pp. 202-210
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
   
   M.G. Catania et al., "Hamartin expression and interaction with tuberin in tumor cell lines and primary cultures", J NEUROSC R, 63(3), 2001, pp. 276-283
5. Hengstschlager, M
   Tuberous sclerosis complex genes: from flies to human genetics
   ARCHIVES OF DERMATOLOGICAL RESEARCH
   
   M. Hengstschlager, "Tuberous sclerosis complex genes: from flies to human genetics", ARCH DERM R, 293(8), 2001, pp. 383-386
6. Neumann, HPH; Schulenburg, S; Apel, TW
   Familial renal tumors in adults
   NIEREN-UND HOCHDRUCKKRANKHEITEN
   
   H.P.H. Neumann et al., "Familial renal tumors in adults", NIEREN HOCH, 30(6), 2001, pp. 267-277
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
   
   P. Benit et al., "Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis", PRENAT DIAG, 21(4), 2001, pp. 279-283
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
   
   L. Parry et al., "Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas", BR J CANC, 85(8), 2001, pp. 1226-1230
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
   
   P. Benit et al., "Mutation analysis of the hamartin gene using denaturing high performance liquid chromatography", HUM MUTAT, 16(5), 2000, pp. 417-421
10. Arbuckle, HA; Morelli, JG
    Pigmentary disorders: update on neurofibromatosis-1 and tuberous sclerosis
    CURRENT OPINION IN PEDIATRICS
    
    H.A. Arbuckle e J.G. Morelli, "Pigmentary disorders: update on neurofibromatosis-1 and tuberous sclerosis", CURR OP PED, 12(4), 2000, pp. 354-358
11. Caspi, M; Atlas, R; Kantor, A; Sapir, T; Reiner, O
    Interaction between LIS1 and doublecortin, two lissencephaly gene products
    HUMAN MOLECULAR GENETICS
    
    M. Caspi et al., "Interaction between LIS1 and doublecortin, two lissencephaly gene products", HUM MOL GEN, 9(15), 2000, pp. 2205-2213
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
    
    V. Murthy et al., "Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney", AM J P-REN, 278(5), 2000, pp. F737-F746
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
    
    K. Kutsche et al., "Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium", CYTOG C GEN, 91(1-4), 2000, pp. 141-147
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
    
    Y. Yamashita et al., "DAnalysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: Report of 10 mutations", AM J MED G, 90(2), 2000, pp. 123-126
15. O'Callaghan, FJ; Osborne, JP
    Advances in the understanding of tuberous sclerosis
    ARCHIVES OF DISEASE IN CHILDHOOD
    
    F.J. O'Callaghan e J.P. Osborne, "Advances in the understanding of tuberous sclerosis", ARCH DIS CH, 83(2), 2000, pp. 140-142
16. Mizuguchi, M; Ikeda, K; Takashima, S
    Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis
    ACTA NEUROPATHOLOGICA
    
    M. Mizuguchi et al., "Simultaneous loss of hamartin and tuberin from the cerebrum, kidney and heart with tuberous sclerosis", ACT NEUROP, 99(5), 2000, pp. 503-510
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
    
    J.R. Gilbert et al., "Physical and cDNA mapping in the DBH region of human chromosome 9q34", HUMAN HERED, 50(3), 2000, pp. 151-157
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
    
    H. Zhang et al., "Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex", J HUM GENET, 44(6), 1999, pp. 391-396
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
    
    K. Mayer et al., "Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test PTT identifies frequent splicing defects", HUM MUTAT, 14(5), 1999, pp. 401-411
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
    
    Y. Niida et al., "Analysis of both TCS1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis", HUM MUTAT, 14(5), 1999, pp. 412-422
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
    
    P. Benit et al., "Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations", HUM MUTAT, 14(5), 1999, pp. 428-432
22. O'Callaghan, FJK
    Tuberous sclerosis - Epidemiological research is needed to complement new findings in genetics.
    BRITISH MEDICAL JOURNAL
    
    F.J.K. O'Callaghan, "Tuberous sclerosis - Epidemiological research is needed to complement new findings in genetics.", BR MED J, 318(7190), 1999, pp. 1019-1020
23. Hornigold, N; Devlin, J; Davies, AM; Aveyard, JS; Habuchi, T; Knowles, MA
    Mutation of the 9q34 gene TSC1 in sporadic bladder cancer
    ONCOGENE
    
    N. Hornigold et al., "Mutation of the 9q34 gene TSC1 in sporadic bladder cancer", ONCOGENE, 18(16), 1999, pp. 2657-2661
24. Vinters, HV; Park, SH; Johnson, MW; Mischel, PS; Catania, M; Kerfoot, C
    Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes
    DEVELOPMENTAL NEUROSCIENCE
    
    H.V. Vinters et al., "Cortical dysplasia, genetic abnormalities and neurocutaneous syndromes", DEV NEUROSC, 21(3-5), 1999, pp. 248-259
25. Keller, MP; Seifried, BA; Rabin, BA; Chance, PF
    Mapping of the kinesin-related gene ATSV to chromosome 2q37
    HUMAN GENETICS
    
    M.P. Keller et al., "Mapping of the kinesin-related gene ATSV to chromosome 2q37", HUM GENET, 104(3), 1999, pp. 254-256
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
    
    M. Smith e D. Sperling, "Novel 23-base-pair duplication mutation in TSC1 exon 15 in an infant presenting with cardiac rhabdomyomas", AM J MED G, 84(4), 1999, pp. 346-349
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
    
    H.D. Zhang et al., "Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: Lack of loss of heterozygosity in a lung cyst", AM J MED G, 82(5), 1999, pp. 368-370
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
    
    M. Nellist et al., "Characterization of the cytosolic tuberin-hamartin complex - Tuberin is a cytosolic chaperone for hamartin", J BIOL CHEM, 274(50), 1999, pp. 35647-35652
29. Roach, ES; Gomez, MR; Northrup, H
    Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
    JOURNAL OF CHILD NEUROLOGY
    
    E.S. Roach et al., "Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria", J CHILD NEU, 13(12), 1998, pp. 624-628
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
    
    J.B.M. Ali et al., "MUTATIONS IN THE TSC1 GENE ACCOUNT FOR A MINORITY OF PATIENTS WITH TUBEROUS SCLEROSIS", Journal of Medical Genetics, 35(12), 1998, pp. 969-972
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
    
    T. Alsaleem et al., "MALIGNANT-TUMORS OF THE KIDNEY, BRAIN, AND SOFT-TISSUES IN CHILDREN AND YOUNG-ADULTS WITH THE TUBEROUS SCLEROSIS COMPLEX", Cancer, 83(10), 1998, pp. 2208-2216
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
    
    J.E. Baumgartner et al., "ON THE SURGICAL-TREATMENT OF REFRACTORY EPILEPSY IN TUBEROUS SCLEROSIS COMPLEX", Pediatric neurosurgery, 27(6), 1997, pp. 311-318
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
    
    K.S. Au et al., "REPORT OF A CRITICAL RECOMBINATION FURTHER NARROWING THE TSC1 REGION", Journal of Medical Genetics, 33(7), 1996, pp. 559-561
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
    
    E.P. Henske et al., "ALLELIC LOSS IS FREQUENT IN TUBEROUS SCLEROSIS KIDNEY LESIONS BUT RARE IN BRAIN-LESIONS", American journal of human genetics, 59(2), 1996, pp. 400-406