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La ricerca find articoli where soggetti phrase all words 'ALPORT SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 260 riferimenti
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    1. Endlich, K; Kriz, W; Witzgall, R
      Update in podocyte biology

      CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
    2. Lelongt, B; Legallicier, B; Piedagnel, R; Ronco, PN
      Do matrix metalloproteinases MMP-2 and MMP-9 (gelatinases) play a role in renal development, physiology and glomerular diseases?

      CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
    3. Morello, R; Zhou, G; Dreyer, SD; Harvey, SJ; Ninomiya, Y; Thorner, PS; Miner, JH; Cole, W; Winterpacht, A; Zabel, B; Oberg, KC; Lee, B
      Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

      NATURE GENETICS
    4. Hertz, JM; Juncker, I; Persson, U; Matthijs, G; Schmidtke, J; Petersen, MB; Kjeldsen, M; Gregersen, N
      Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

      HUMAN MUTATION
    5. Heikkila, P; Tibell, A; Morita, T; Chen, Y; Wu, G; Sado, Y; Ninomiya, Y; Pettersson, E; Tryggvason, K
      Adenovirus-mediated transfer of type IV collagen alpha 5 chain cDNA into swine kidney in vivo: deposition of the protein into the glomerular basementmembrane

      GENE THERAPY
    6. Miettinen, M; Lasota, J
      Gastrointestinal stromal tumors - definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    7. Richardson, D; Shires, M; Davison, AM
      Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    8. Barsotti, P; Muda, AO; Mazzucco, G; Massella, L; Basolo, B; De Marchi, M; Rizzoni, G; Monga, G; Faraggiana, T
      Distribution of alpha-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    9. Levy, M
      How well do we manage and support patients and families with dominantly inherited renal disease?

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    10. Ozen, S; Ertoy, D; Heidet, L; Cohen-Solal, L; Ozen, H; Besbas, N; Bakkaoglu, A; Antignac, C
      Benign familial hematuria associated with a novel COL4A4 mutation

      PEDIATRIC NEPHROLOGY
    11. Martin, PH; Tryggvason, K
      Two novel alternatively spliced 9-bp exons in the COL4A5 gene

      PEDIATRIC NEPHROLOGY
    12. Zum Gottesberge, AMM; Felix, H; Reuter, A; Weiher, H
      Ultrastructural and physiological defects in the cochlea of the Mpv17 mouse strain - A comparison between young and old adult animals

      HEARING RESEARCH
    13. Lhotta, K
      Pathogenesis and clinic of hereditary nephropathies

      ACTA MEDICA AUSTRIACA
    14. Dagher, H; Buzza, M; Colville, D; Jones, C; Powell, H; Fassett, R; Wilson, D; Agar, J; Savige, J
      A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome

      AMERICAN JOURNAL OF KIDNEY DISEASES
    15. Meleg-Smith, S
      Alport disease: A review of the diagnostic difficulties

      ULTRASTRUCTURAL PATHOLOGY
    16. Barker, DF; Denison, JC; Atkin, CL; Gregory, MC
      Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP

      AMERICAN JOURNAL OF MEDICAL GENETICS
    17. St John, PL; Abrahamson, DR
      Glomerular endothelial cells and podocytes jointly synthesize laminin-1 and-11

      KIDNEY INTERNATIONAL
    18. Monnens, LAH
      Thin glomerular basement membrane disease

      KIDNEY INTERNATIONAL
    19. Martinella-Catusse, C; Polette, M; Noel, A; Gilles, C; Dehan, P; Munaut, C; Colige, A; Volders, L; Monboisse, JC; Foidart, JM; Birembaut, P
      Down-regulation of MT1-MMP expression by the alpha 3 chain of type IV collagen inhibits bronchial tumor cell line invasion

      LABORATORY INVESTIGATION
    20. Lee, H; Morgan, K; Abramowsky, C; Ricketts, RR
      Leiomyoma at the site of esophageal atresia repair

      JOURNAL OF PEDIATRIC SURGERY
    21. Sampson, NS; Ryan, ST; Enke, DA; Cosgrove, D; Koteliansky, V; Gotwals, P
      Global gene expression analysis reveals a role for the alpha(1) integrin in renal pathogenesis

      JOURNAL OF BIOLOGICAL CHEMISTRY
    22. Borza, DB; Bondar, O; Ninomiya, Y; Sado, Y; Naito, I; Todd, P; Hudson, BG
      The NCI domain of collagen IV encodes a novel network composed of the alpha 1, alpha 2, alpha 5, and alpha 6 chains in smooth muscle basement membranes

      JOURNAL OF BIOLOGICAL CHEMISTRY
    23. Segal, Y; Zhuang, LY; Rondeau, E; Sraer, JD; Zhou, J
      Regulation of the paired type IV collagen genes COL4A5 and COL4A6 Role of the proximal promoter region

      JOURNAL OF BIOLOGICAL CHEMISTRY
    24. Takei, K; Furuya, A; Hommura, S; Yamaguchi, N
      Ultrastructural fragility and type IV collagen abnormality of the anteriorlens capsules in a patient with Alport syndrome

      JAPANESE JOURNAL OF OPHTHALMOLOGY
    25. Guillem, P; Delcambre, F; Cohen-Solal, L; Triboulet, JP; Antignac, C; Heidet, L; Quandalle, P
      Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease

      GASTROENTEROLOGY
    26. Lajoie, G
      Approach to the diagnosis of thin basement membrane nephropathy in femaleswith the use of antibodies to type IV collagen

      ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
    27. Rossetti, S; Strmecki, L; Gamble, V; Burton, S; Sneddon, V; Peral, B; Roy, S; Bakkaloglu, A; Komel, R; Winearls, CG; Harris, PC
      Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications

      AMERICAN JOURNAL OF HUMAN GENETICS
    28. Chen, YX; Sasatomi, E; Satoh, T; Miyazaki, K; Tokunaga, O
      Abnormal distribution of collagen type IV in extrahepatic bile duct carcinoma

      PATHOLOGY INTERNATIONAL
    29. Frasca, GM; Onetti-Muda, A; Renieri, A
      Thin glomerular basement membrane disease

      JOURNAL OF NEPHROLOGY
    30. Thomas, LA; Balaratnam, N; Richards, DG; Duane, PD
      Diffuse esophageal leiomyomatosis: another cause of pseudoachalasia

      DISEASES OF THE ESOPHAGUS
    31. Pujol, J; Pares, D; Mora, L; Sans, M; Jaurrieta, E
      Diagnosis and management of diffuse leiomyomatosis of the oesophagus

      DISEASES OF THE ESOPHAGUS
    32. Otto, E; Betz, R; Rensing, C; Schatzle, S; Kuntzen, T; Vetsi, T; Imm, A; Hildebrandt, F
      A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

      HUMAN MUTATION
    33. Heikkila, P; Tryggvason, K; Thorner, P
      Animal models of Alport syndrome: Advancing the prospects for effective human gene therapy

      EXPERIMENTAL NEPHROLOGY
    34. Foglieni, C; Bragonzi, A; Cortese, M; Cantu, L; Boletta, A; Chiossone, I; Soria, MR; Monaco, L
      Glomerular filtration is required for transfection of proximal tubular cells in the rat kidney following injection of DNA complexes into the renal artery

      GENE THERAPY
    35. Sans, N; Galy-Fourcade, D; Bloom, E; Pradere, B; Chiavassa, H; Jarlaud, T; Queralto, M; Giron, J; Gouzi, JL; Railhac, JJ
      Imaging of diffuse esophageal leiomyomatosis: two case reports and review of the literature

      EUROPEAN RADIOLOGY
    36. Schepens, D; Verswijvel, G; Kuypers, D; Vanrenterghem, Y
      Renal cortical nephrocalcinosis

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    37. Colville, D; Dagher, H; Miach, P; Savige, J
      Ocular clues to the nature of disease causing end-stage renal failure

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    38. Kemper, MJ; Ganschow, R; Helmke, K; Muller-Wiefel, DE
      The child with haematuria and dysphagia

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    39. Rizzoni, G; Massella, L; Muda, AO
      alpha 5 COLIV chain distribution in glomerular basement membrane in a malewith X-linked Alport syndrome and thin basement membrane

      PEDIATRIC NEPHROLOGY
    40. Ermisch, B; Gross, O; Netzer, KO; Weber, M; Brandis, M; Zimmerhackl, LB
      Sporadic case of X-chromosomal Alport syndrome in a consanguineous family

      PEDIATRIC NEPHROLOGY
    41. Topaloglu, R; Plant, KE; Flinter, F
      A novel G472R mutation in is Turkish family with X-linked Alport syndrome

      PEDIATRIC NEPHROLOGY
    42. Kashtan, CE
      Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis

      PEDIATRIC NEPHROLOGY
    43. Cheong, HI; Park, HW; Ha, IS; Choi, Y
      Mutational analysis of COL4A5 gene in Korean Alport syndrome

      PEDIATRIC NEPHROLOGY
    44. Akhtar, M; Al-Sabban, E
      Alport-like glomerular changes in a patient with nephrotic syndrome: report of a case

      PEDIATRIC NEPHROLOGY
    45. Mili-Boussen, I; Ghattas, M; Ben Romdhane, B; Ouertani, A
      Retinal flecks in Alport's syndrome

      ARCHIVES DE PEDIATRIE
    46. Sefer, S; Trotic, R; Lacmanovic, V; Degoricia, V; Ratkovic-Gusic, I; Kes, P
      Effects of renal transplantation on hearing and ocular changes in a monozygotic twin with Alport's syndrome: Comparison with other twin on hemodialysis

      CROATIAN MEDICAL JOURNAL
    47. Proesmans, W; Knockaert, H; Trouet, D
      Enalapril in paediatric patients with Alport syndrome: 2 years' experience

      EUROPEAN JOURNAL OF PEDIATRICS
    48. Vitelli, F; Meloni, I; Fineschi, S; Favara, F; Storlazzi, CT; Rocchi, M; Renieri, A
      Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3

      CYTOGENETICS AND CELL GENETICS
    49. Hood, JC; Savige, J; Seymour, AE; Dowling, J; Martinello, P; Colville, D; Sinclair, R; Naito, I; Jennings, G; Huxtable, C
      Ultrastructural appearance of renal and other basement membranes in the bull terrier model of autosomal dominant hereditary nephritis

      AMERICAN JOURNAL OF KIDNEY DISEASES
    50. Nogueira, M; Cartwright, J; Horn, K; Doe, N; Shappell, S; Barrios, R; Coroneos, E; Truong, LD
      Thin basement membrane disease with heavy proteinuria or nephrotic syndrome at presentation

      AMERICAN JOURNAL OF KIDNEY DISEASES
    51. Cheng, YL; Hsu, JY; Hsu, HH; Yu, CP; Lee, SC
      Diffuse leiomyomatosis of the esophagus

      DIGESTIVE SURGERY
    52. Compagnoni, GM; Talamonti, MS; Joob, A; Ergun, GA; Rao, S
      Esophageal leiomyomatosis in a woman with a history of vulvar leiomyoma and Barrett's esophagus - A case report and review of the literature

      DIGESTIVE SURGERY
    53. Garcia-Torres, R; Cruz, D; Orozco, L; Heidet, L; Gubler, MC
      Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis

      NEPHROLOGIE
    54. Pak, MW; Ng, MHL; Leung, CB; van Hasselt, CA
      Cochlear deafness in a Chinese family with Fechtner's syndrome

      AMERICAN JOURNAL OF OTOLOGY
    55. Tseng, CJ; Lalwani, AK
      Cracking the auditory genetic code: Part II. Syndromic hereditary hearing impairment

      AMERICAN JOURNAL OF OTOLOGY
    56. Vaicys, C; Hunt, CD; Heary, RF
      Ruptured intracranial aneurysm in an adolescent with Alport's syndrome - Anew expression of type IV collagenopathy: Case report

      SURGICAL NEUROLOGY
    57. Levy, M; Feingold, J
      Estimating prevalence in single-gene kidney diseases progressing to renal failure

      KIDNEY INTERNATIONAL
    58. Fukada, Y; Yasumizu, T; Sumino, E; Hoshi, K
      A pregnancy complicated with Fechtner syndrome: A case report

      TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE
    59. Yasuzumi, K; Futagami, S; Kiyosawa, M; Mochizuki, M
      Bilateral serous retinal detachment associated with Alport's syndrome

      OPHTHALMOLOGICA
    60. Spraul, CW; Lang, GE
      Macular dystrophy in association with Alport's syndrome

      KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
    61. Martin, DM; Probst, FJ; Camper, SA; Petty, EM
      Characterisation and genetic mapping of a new X linked deafness syndrome

      JOURNAL OF MEDICAL GENETICS
    62. Borza, DB; Netzer, KO; Leinonen, A; Todd, P; Cervera, J; Saus, J; Hudson, BG
      The goodpasture autoantigen - Identification of multiple cryptic epitopes on the NC1 domain of the alpha 3(IV) collagen chain

      JOURNAL OF BIOLOGICAL CHEMISTRY
    63. Boutaud, A; Borza, DB; Bondar, O; Gunwar, S; Netzer, KO; Singh, N; Ninomiya, Y; Sado, Y; Noelken, ME; Hudson, BG
      Type IV collagen of the glomerular basement membrane - Evidence that the chain specificity of network assembly is encoded by the noncollagenous NC1 domains

      JOURNAL OF BIOLOGICAL CHEMISTRY
    64. Maeshima, Y; Colorado, PC; Torre, A; Holthaus, KA; Grunkemeyer, JA; Ericksen, MB; Hopfer, H; Xiao, YW; Stillman, IE; Kalluri, R
      Distinct antitumor properties of a type IV collagen domain derived from basement membrane

      JOURNAL OF BIOLOGICAL CHEMISTRY
    65. Kalluri, R; Cantley, LG; Kerjaschki, D; Neilson, EG
      Reactive oxygen species expose cryptic epitopes associated with autoimmunegoodpasture syndrome

      JOURNAL OF BIOLOGICAL CHEMISTRY
    66. Ghohestani, RF; Hudson, BG; Claudy, A; Uitto, J
      The alpha 5 chain of type IV collagen is the target of IgG autoantibodies in a novel autoimmune disease with subepidermal blisters and renal insufficiency

      JOURNAL OF BIOLOGICAL CHEMISTRY
    67. Kalluri, R; Cosgrove, D
      Assembly of type IV collagen - Insights from alpha 3(IV) collagen-deficient mice

      JOURNAL OF BIOLOGICAL CHEMISTRY
    68. Petitclerc, E; Boutaud, A; Prestayko, A; Xu, JS; Sado, Y; Ninomiya, Y; Sarras, MP; Hudson, BG; Brooks, PC
      New functions for non-collagenous domains of human collagen type IV - Novel integrin ligands inhibiting angiogenesis and tumor growth in vivo

      JOURNAL OF BIOLOGICAL CHEMISTRY
    69. Saito, K; Naito, I; Seki, T; Oohashi, T; Kimura, E; Momota, R; Kishiro, Y; Sado, Y; Yoshioka, H; Ninomiya, Y
      Differential expression of mouse alpha 5(IV) and alpha 6(IV) collagen genes in epithelial basement membranes

      JOURNAL OF BIOCHEMISTRY
    70. Miner, JH; Li, C
      Defective glomerulogenesis in the absence of laminin alpha 5 demonstrates a developmental role for the kidney glomerular basement membrane

      DEVELOPMENTAL BIOLOGY
    71. Rha, JY; Labato, MA; Ross, LA; Breitschwerdt, E; Alroy, J
      Familial glomerulonephropathy in a litter of Beagles

      JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION
    72. Lees, GE; Kashtan, CE; Michael, AF; Helman, RG; Naito, I; Ninomiya, Y; Sado, Y; Kim, Y
      Expression of the alpha 6 chain of type IV collagen in glomerular basementmembranes of healthy adult dogs

      AMERICAN JOURNAL OF VETERINARY RESEARCH
    73. Eudy, JD; Sumegi, J
      Molecular genetics of Usher syndrome

      CELLULAR AND MOLECULAR LIFE SCIENCES
    74. Relan, NK; Schuger, L
      Basement membranes in development

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    75. Keats, BJB; Berlin, CI
      Genomics and hearing impairment

      GENOME RESEARCH
    76. Praga, M
      New insights into familial microhematuria

      CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION
    77. Plant, KE; Green, PM; Vetrie, D; Flinter, FA
      Detection of mutations in COL4A5 in patients with Alport syndrome

      HUMAN MUTATION
    78. Abrahamson, DR
      Glomerular permeability - I. Ferritin transfer across the normal glomerular capillary wall - Guest commentary

      JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
    79. Torra, R; Badenas, C; Cofan, F; Callis, L; Perez-Oller, L; Darnell, A
      Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    80. Moxey-Mims, MM; Young, G; Silverman, A; Selby, DM; White, JG; Kher, KK
      End-stage renal disease in two pediatric patients with Fechtner syndrome

      PEDIATRIC NEPHROLOGY
    81. Il Cheong, H; Chae, JH; Kim, JS; Park, HW; Ha, IS; Hwang, YS; Lee, HS; Choi, Y
      Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation

      PEDIATRIC NEPHROLOGY
    82. Piccini, M; Vitelli, F; Seri, M; Galietta, LJV; Moran, O; Bulfone, A; Banfi, S; Pober, B; Renieri, A
      KCNE1-like gene is deleted in AMME contiguous gene syndrome: Identification and characterization of the human and mouse homologs

      GENOMICS
    83. Kimberling, WJ
      Genetic testing of hearing loss disorders

      MOLECULAR MEDICINE: NOVEL FINDINGS OF GENE DIAGNOSIS, REGULATION OF GENE EXPRESSION, AND GENE THERAPY
    84. Kelley, VR; Sukhatme, VP
      Gene transfer in the kidney

      AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
    85. Parpala-Sparman, T; Lukkarinen, O; Heikkila, P; Tryggvason, K
      A novel surgical organ perfusion method for effective ex vivo and in vivo gene transfer into renal glomerular cells

      UROLOGICAL RESEARCH
    86. Inoue, YJ; Nishio, H; Shirakawa, T; Nakanishi, K; Nakamura, H; Sumino, K; Nishiyama, K; Iijima, K; Yoshikawa, N
      Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing

      AMERICAN JOURNAL OF KIDNEY DISEASES
    87. Kashtan, CE
      Glomerular disease

      SEMINARS IN NEPHROLOGY
    88. Noelken, ME; Hudson, BG
      Chain composition of type IV collagen networks in basement membranes

      PROCEEDINGS OF THE INDIAN ACADEMY OF SCIENCES-CHEMICAL SCIENCES
    89. Piccini, M; Casari, G; Zhou, JH; Bruttini, M; Li Volti, S; Ballabio, A; Renieri, A
      Evidence for genetic heterogeneity in benign familial hematuria

      AMERICAN JOURNAL OF NEPHROLOGY
    90. Balarin, MAS; Lopes, VLGD; Varella-Garcia, M
      A dup(17)(p11.2p11.2) detected by fluorescence in situ hybridization in a boy with Alport syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    91. Miner, JH
      Renal basement membrane components

      KIDNEY INTERNATIONAL
    92. Sayers, R; Kalluri, R; Rodgers, KD; Shield, CF; Meehan, DT; Cosgrove, D
      Role for transforming growth factor-beta 1 in Alport renal disease progression

      KIDNEY INTERNATIONAL
    93. Kurihara, I; Saito, T; Soma, J; Sato, H; Hotta, O; Taguma, Y; Ito, S
      Clinicopathological characteristics of interstitial foam cells in membranous nephropathy

      KIDNEY INTERNATIONAL
    94. Leinonen, A; Netzer, KO; Boutaud, A; Gunwar, S; Hudson, BG
      Goodpasture antigen: Expression of the full-length alpha 3(IV) chain of collagen IV and localization of epitopes exclusively to the noncollagenous domain

      KIDNEY INTERNATIONAL
    95. Mora, C; Navarro, JF; Garcia, J; Gallego, E; Macia, M; Mendez, ML; Chahin, J; Rivero, A
      Autosomal dominant polycystic kidney disease associated with familial sensorineural deafness

      SCANDINAVIAN JOURNAL OF UROLOGY AND NEPHROLOGY
    96. Sargon, MF; Celik, HH; Sener, C
      Ultrastructure of the lens epithelium in Alport's syndrome

      OPHTHALMOLOGICA
    97. Pujol, GS; Iotti, R; Michel, MD; Turner, AN; Vilches, AR
      Anti glomerular basement membrane disease in a renal transplant patient with Alport syndrome

      MEDICINA-BUENOS AIRES
    98. Van Vliet, AI; Van Alderwegen, IE; Baelde, HJ; De Heer, E; Killen, PD; Kalluri, RK; Bruijn, JA; Bergijk, EC
      Differential expression of collagen type IV alpha-chains in the tubulointerstitial compartment in experimental chronic serum sickness nephritis

      JOURNAL OF PATHOLOGY
    99. Muller, U; Brandli, AW
      Cell adhesion molecules and extracellular-matrix constituents in kidney development and disease

      JOURNAL OF CELL SCIENCE
    100. Lees, GE; Helman, RG; Kashtan, CE; Michael, AF; Homco, LD; Millichamp, NJ; Camacho, ZT; Templeton, JW; Ninomiya, Y; Sado, Y; Naito, I; Kim, Y
      New form of X-linked dominant hereditary nephritis in dogs

      AMERICAN JOURNAL OF VETERINARY RESEARCH


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Documento generato il 23/01/21 alle ore 00:35:04