RadioLab project: knowledge of radon gas in Italy

Autor: F. Ambrosino, G. La Verde, M. Colucci, V. Fanti, D. Barrale, A. Caciolli, S. Hemmer, M. L. De Giorgi, A. Ventura, J. Immè, A. Pagano, M. Budinich, M. Vascotto, V. Montalbano, M. Capua, R. Tucci, M. Chiosso, L. Visca, F. Groppi, M. Pugliese

Publikováno v: Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)

Abstract RadioLab is an Italian project, addressed to school-age people, and designed for the dissemination of scientific culture on the theme of environmental radioactivity, with particular regards to the importance of knowledge of radon gas exposur

Externí odkaz: https://doaj.org/article/4b4624cafcee4cf58f857f987fd4e845

Cutaneous lesions of Anderson-Fabry disease examined with a novel technique: Line-field confocal optical coherence tomography

Autor: L. Tognetti, E. Cinotti, G. Coriolani, M. Suppa, J. L. Perrot, M. Vascotto, S. Grosso, P. Rubegni

Publikováno v: Journal of the European Academy of Dermatology and Venereology : JEADVReferences. 36(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f1fec86feeeb4b2a08c081fec074f9d
https://pubmed.ncbi.nlm.nih.gov/34927772

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Autor: S. Kitsiou Tzeli, Hülya Kayserili, L. Giordano, B. Rodriguez, P. Collignon, V. Sabolic Avramovska, Silvana Briuglia, Christopher A. Walsh, Laila Bastaki, Amy Goldstein, Francesca Faravelli, F. Papadia, A. Permunian, Alessandro Simonati, S. Halldorsson, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Kathryn J. Swoboda, Chiara Pantaleoni, O. D'Addato, Jason W. Caldwell, Maria Roberta Cilio, Soumaya Mougou-Zerelli, M. Vascotto, Andreas Zankl, Gaetano Tortorella, Julia Tantau, Elliott H. Sherr, Patrizia Accorsi, Maurizio Genuardi, Carmelo Salpietro, G. Marra, Pierangela Castorina, Petter Strømme, J. Johannsdottir, Bruno Dallapiccola, Kenton R. Holden, Donatella Greco, Maria Spanò, Pasquale Parisi, Roberta Battini, Paola Grammatico, P. Ludvigsson, Dorit Lev, Daria Riva, C. Ae Kim, WB Dobyns, L. Martorell Sampol, Robert P. Cruse, H. Raynes, Sabrina Signorini, A. Seward, Raoul C.M. Hennekam, Elena Andreucci, Manuela Priolo, Banu Anlar, Bernard Stuart, Christopher P. Bennett, S. Comu, Christopher Geoffrey Woods, Vlatka Mejaški-Bošnjak, J. Milisa, Eamonn Sheridan, Melissa Lees, C. Moco, Ender Karaca, Miriam Iannicelli, Annalisa Mazzotta, C. Dacou-Voutetakis, Tania Attié-Bitach, Philippe Loget, D. Petkovic, L. Demerleir, Loredana Boccone, Meriem Tazir, Kalpathy S. Krishnamoorthy, Damir Lončarević, Dominika Swistun, Yves Sznajer, Stefano D'Arrigo, Ginevra Zanni, Angela Barnicoat, Marina Michelson, L. I. Al Gazali, Vincenzo Leuzzi, G. Uziel, A. Adami, B. Gener Querol, V. Udani, M. Di Giacomo, Maryse Bonnière, Enrico Bertini, K. Dias, Edward Blair, Johannes M. Penzien, M. Cazzagon, Susana Quijano-Roy, Trine Prescott, Barbara Scelsa, Giuseppina Vitiello, Francesco Brancati, Gilda Stringini, Trudy McKanna, Roser Pons, Renato Borgatti, M. Gentile, Dean Sarco, C. Von Der Lippe, Eugen Boltshauser, Luigina Spaccini, A. Pessagno, Alex Magee, Marilena Briguglio, Margherita Silengo, Lena Starck, M. L. Di Sabato, Roshan Koul, Nicole I. Wolf, A. M. Laverda, Elizabeth Flori, Clotilde Lagier-Tourenne, A. Matuleviciene, Matloob Azam, Kathrin Ludwig, Ghada M H Abdel-Salam, Atıl Yüksel, Johannes R. Lemke, Stefania Bigoni, Elizabeth Said, Anna Rajab, Mary Kay Koenig, Andreas R. Janecke, Asma A. Al-Tawari, Agnese Suppiej, Henry Sanchez, Wendy K. Chung, P. Guanciali, Heike Philippi, Silvia Majore, E. DeMarco, J. Hahn, Gianluca Caridi, Marc D'Hooghe, M. M. De Jong, M. Akcakus, Franco Stanzial, Silvia Battaglia, Gian Luigi Ardissino, Giangennaro Coppola, Jane A. Hurst, Terry D. Sanger, Alessandra Renieri, Nadia Elkhartoufi, Rita Fischetto, Alex E. Clark, S. Strozzi, S. Romano, Alain Verloes, Marzia Pollazzon, Elisa Fazzi, L. Yates, Faustina Lalatta, Sabine Sigaudy, Alessandra D'Amico, Brigitte Leroy, Joel Victor Fluss, David Viskochil, Alice Abdel-Aleem, Darryl C. De Vivo, Padraic Grattan-Smith, Corrado Romano, D. Nicholl, Regine Schubert, A. Moreira, Claudia Izzi, Barbara Gentilin, Gustavo Maegawa, Céline Gomes, László Sztriha, C. Donahue, Luciana Rigoli, Jean Messer, Sophie Thomas, E. Del Giudice, R. Van Coster, André Mégarbané, Ignacio Pascual-Castroviejo, Alessandra Ferlini, Topcu, R. Touraine, Ginevra Guanti, Lorena Travaglini, L. Ali Pacha, R. De Vescovi, Enza Maria Valente, Filippo Bernardi, L. Carr, Shubha R. Phadke, S. Bernes, Maria Teresa Divizia, C. Daugherty, M. Akgul, C. Macaluso, Maha S. Zaki, E. Finsecke, Itxaso Marti, Lorenzo Pinelli, F. McKay, Maria Amorini, Joseph G. Gleeson, F. Benedicenti, Bruria Ben-Zeev, Carla Uggetti, R. Romoli, Richard J. Leventer, Francesco Emma, T. E. Gallager, P. De Lonlay, Marco Seri, Bernard L. Maria, M.A. Donati, Bosanka Jocic-Jakubi

Publikováno v: International JSRD Study Group 2010, ' Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies ', Human Mutation, vol. 31, no. 5, pp. E1319-E1331 . https://doi.org/10.1002/humu.21239
Human Mutation, 31(5), E1319-E1331. Wiley-Liss Inc.

Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8f64992e7a2eb93dc8f809d7d786fcf
https://doi.org/10.1002/humu.21239

The role of antitissue transglutaminase assay for the diagnosis and monitoring of coeliac disease: A French-Italian multicentre study

Autor: Tonutti E., Visentini D., Bizzaro N., Caradonna M., Cerni L., Villalta D., Tozzoli R. F Ferrara, M Barraco, E Migali, D Mariotti, G Danzi, ML Martino, M Danzi, M Baldassarre, G Di Bitonto, M Ciccarelli, D Riello, G Bertiato, G Pedicini, RC Bocchino, F Moccia, G Alessio, P Amboni, C Ottomano, U Volta, A Granito, N Carabellese, R Amato, G Aurnia, C Spagnulo, P Clemen, F Coppola, G Spagnoletti, M Spina, T Trigilia, F Branciforte, L Giancotti, M Apollini, B Malamisura, A Sofia, M Boffardi, F Antico, P Arigliano, G Marcer, E Sala, ML Grassi, G Giana, C Staffa, V Cova, M Martinelli, A Calabrò, D Renzi, D Nigro, D Macchia, M Manfredi, E Cammelli, G Castellucci, L Ferraro, L Marchetti, G Garelli, M Colombo, E Castellano, M Cingolani, A Sabatino, A Di Blasi, M Golato, A Carlucci, G Spagnuolo, G Trivisonno, V Castelli, S Babbini, V Marrè, G Meli, S Amoroso, M Montesanti, E Mei, S Armelloni, C Gerosa, C Marcellino, C Gallo, R Pozzoli, M Peracchi, MT Bardella, C Trovato, VS Arosio, R Malberti, F Rea, MR Di Domenico, A Sergio, P Iardino, V Formicola, G Tamburro, A Massari, M Cirella, E Rondinella, A Pignero, D Scognamiglio, S Spagnuolo, S Orefice, V Romano, B Pennucci, A Maglione, S Lavecchia, A Rubino, O Leone, N Cantieri, F Michelutti, G Guariso, D Basso, S Teresi, E Gucciardino, M Di Gregorio, MA Trippiedi, P Greco, R Guadagna, E Maltese, T Imbastaro, G Lombardi, A Rossi, E Savi, L Spada, D Villalta, G Tabellini, M Saccarola, P Palumbo, G Marinucci, PM Strappini, F Viola, M Barbato, Roma, N Bizzaro, P Pasini, F Minetti, M Scogna, M Vascotto, G Morgese, F Bascietto, P Cantelmi, F Bulacanti, D Bassetti, S Santer, D Prizzon, S Loperfido, S Martelossi, T Not, A Ventura, E Tonutti, D Visentini, S Finazzi, S Salvatore, GV Melzi d’Eril, D Wolf, M Montesanto, M Negri, MG Azzeni, R Giordano, M Farina, S Micieli, V Gouilleux, O Bandin, A Tridon, M Meyer, F Bienvenu, G Beaune, S Jego, M San Marco, D Bernard, J Sarles, J Sahel, D Carre, S Benzaken, JF Demarquay, C Johanet, JJ Baudon.

Aims: Tissue transglutaminase (tTG) was recently identified as the major autoantigen in coeliac disease. The aim of this multicentre study was to evaluate the impact of a new immunoenzymatic assay for the detection of IgA anti-tGT antibodies. Methods

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::268919beb91cf04a390615120135a258
http://hdl.handle.net/11585/768472

BIOPSY IN COELIAC DISEASE DIAGNOSIS: WHEN IS IT NECESSARY?

Autor: A. Tuccio, G. Boddi, C. Iurato, S. Nanni, M. Vascotto, P. Balestri

Publikováno v: Journal of the Siena Academy of Sciences. 4:28

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::409137d45136884788f2559acafe8624
https://doi.org/10.4081/jsas.2012.28