نتائج البحث - Irma Dianzani
- يعرض 1 - 19 نتائج من 19
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High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay حسب P. Quarello, Emanuela Garelli, Alfredo Brusco, Adriana Carando, Cecilia Mancini, Polyxeni G. Pappi, Luciana Vinti, Johanna Svahn, Irma Dianzani, U. Ramenghi
منشور في 2012Artigo -
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Deficiency of the Fas Apoptosis Pathway Without Fas Gene Mutations in Pediatric Patients With Autoimmunity/Lymphoproliferation حسب Umberto Dianzani, Manuela Bragardo, Daniela DiFranco, Carla Alliaudi, Paola Scagni, Donatella Buonfiglio, Valter Redoglia, Sara Bonissoni, Antonio Correra, Irma Dianzani, Ugo Ramenghi
منشور في 1997Artigo -
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RPS19 mutations in patients with Diamond-Blackfan anemia حسب Maria Francesca Campagnoli, Ugo Ramenghi, Marta Armiraglio, Paola Quarello, Emanuela Garelli, Adriana Carando, Federica Avondo, Elisa Pavesi, Sébastien Fribourg, Pierre‐Emmanuel Gleizes, Fabrizio Loreni, Irma Dianzani
منشور في 2008Revisão -
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Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations حسب Paola Quarello, Emanuela Garelli, Adriana Carando, Alfredo Brusco, Roberto Calabrese, Christelle Dufour, Daniela Longoni, A. Misuraca, Luciana Vinti, Anna Aspesi, Laura Biondini, Fabrizio Loreni, Irma Dianzani, Ugo Ramenghi
منشور في 2009Artigo -
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A European Multicenter Study of Phenylalanine Hydroxylase Deficiency: Classification of 105 Mutations and a General System for Genotype-Based Prediction of Metabolic Phenotype حسب Per Guldberg, Françoise Rey, Johannes Zschocke, Valentino Romano, Baudouin François, L. Michiels, Kurt Ullrich, Georg F. Hoffmann, Peter Burgard, Hildgund Schmidt, Concetta Meli, Enrica Riva, Irma Dianzani, Alberto Ponzone, Jean Rey, Flemming Güttler
منشور في 1998Artigo -
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High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation حسب Annalisa Chiocchetti, Manuela Indelicato, Thea Bensi, Riccardo Mesturini, Mara Giordano, Selina Sametti, Luca Castelli, Flavia Bottarel, María Clorinda Mazzarino, L. Garbarini, Francesca Giacopelli, Guido Valesini, Claudio Santoro, Irma Dianzani, Ugo Ramenghi, Umberto Dianzani
منشور في 2003Artigo -
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Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience حسب Lydie Da Costa, Marie-Françoise O’Donohue, Birgit van Dooijeweert, Katarzyna Albrecht, Şule Ünal, Ugo Ramenghi, Thierry Leblanc, Irma Dianzani, Hannah Tamary, Marije Bartels, Pierre‐Emmanuel Gleizes, Marcin W. Włodarski, Alyson W. MacInnes
منشور في 2017Revisão -
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An Overview of the Genetic Structure within the Italian Population from Genome-Wide Data حسب Cornelia Di Gaetano, Floriana Voglino, Simonetta Guarrera, Giovanni Fiorito, Fabio Rosa, Anna Maria Di Blasio, Paola Manzini, Irma Dianzani, Marta Betti, Daniele Cusi, Francesca Frau, Cristina Barlassina, Dario Mirabelli, Corrado Magnani, Nicola Glorioso, Stefano Bonassi, Alberto Piazza, Giuseppe Matullo
منشور في 2012Artigo -
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Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma حسب Marta Betti, Elisabetta Casalone, Daniela Ferrante, Anna Aspesi, Giulia Morleo, Alessandra Biasi, Marika Sculco, Giuseppe Mancuso, Simonetta Guarrera, Luisella Righi, Federica Grosso, Roberta Libener, M Pavesi, Narciso Mariani, Caterina Casadio, Renzo Boldorini, Dario Mirabelli, Barbara Pasini, Corrado Magnani, Giuseppe Matullo, Irma Dianzani
منشور في 2017Artigo -
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Exploiting pre‐rRNA processing in <scp>D</scp>iamond <scp>B</scp>lackfan anemia gene discovery and diagnosis حسب Jason E. Farrar, Paola Quarello, Ross Fisher, Kelly A O'Brien, Anna Aspesi, Sara Parrella, Adrianna Henson, Nancy E. Seidel, Eva Atsidaftos, Supraja Prakash, Shahla Bari, Emanuela Garelli, R.J. Arceci, Irma Dianzani, Ugo Ramenghi, Adrianna Vlachos, Jeffrey M. Lipton, David M. Bodine, Steven R. Ellis
منشور في 2014Artigo -
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CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma حسب Marta Betti, Anna Aspesi, Alessandra Biasi, Elisabetta Casalone, Daniela Ferrante, Paola Ogliara, Laura Cristina Gironi, Roberto Giorgione, Pamela Farinelli, Federica Grosso, Roberta Libener, Simonetta Rosato, Daniela Turchetti, Antonella Maffé, Caterina Casadio, Valeria Ascoli, Caterina Dianzani, E. Colombo, E. Piccolini, M Pavesi, Sara Miccoli, Dario Mirabelli, Cecilia Bracco, Luisella Righi, Renzo Boldorini, M. Papotti, Giuseppe Matullo, Corrado Magnani, Barbara Pasini, Irma Dianzani
منشور في 2016Artigo -
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The ribosomal basis of diamond-blackfan anemia: mutation and database update حسب Ilenia Boria, Emanuela Garelli, Hanna T. Gazda, Anna Aspesi, Paola Quarello, Elisa Pavesi, Daniela Ferrante, Joerg J Meerpohl, Mutlu Kartal‐Kaess, Lydie Da Costa, Alexis Proust, Thierry Leblanc, Maud Simansour, Niklas Dahl, Anne-Sophie Fröjmark, Dagmar Pospı́šilová, Radek Čmejla, Alan H. Beggs, Mee Rie Sheen, Michael Landowski, Christopher Buros, Catherine Clinton, Lori Dobson, Adrianna Vlachos, Eva Atsidaftos, Jeffrey M. Lipton, Steven R. Ellis, Ugo Ramenghi, Irma Dianzani
منشور في 2010Artigo -
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Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study حسب Giuseppe Matullo, Simonetta Guarrera, Marta Betti, Giovanni Fiorito, Daniela Ferrante, Floriana Voglino, Gemma Cadby, Cornelia Di Gaetano, Fabio Rosa, Alessia Russo, Ari Hirvonen, Elisabetta Casalone, Sara Tùnesi, Marina Padoan, Mara Giordano, Anna Aspesi, Caterina Casadio, Francesco Ardissone, Enrico Ruffini, Pier Giacomo Betta, Roberta Libener, Roberto Guaschino, E. Piccolini, Monica Neri, Arthur W. Musk, Nicholas de Klerk, Jennie Hui, John Beilby, Anthony James, Jenette Creaney, B. W. Robinson, Sutapa Mukherjee, Lyle J. Palmer, Dario Mirabelli, Donatella Ugolini, Stefano Bonassi, Corrado Magnani, Irma Dianzani
منشور في 2013Artigo -
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Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations حسب Michele Carbone, Harvey I. Pass, Güntülü Ak, H. Richard Alexander, Paul Baas, Francine Baumann, Andrew M. Blakely, Raphael Bueno, Aleksandra Bzura, Giuseppe Cardillo, Jane E. Churpek, Irma Dianzani, Assunta De Rienzo, Mitsuru Emi, Salih Emri, Emanuela Felley‐Bosco, Dean A. Fennell, Raja M. Flores, Federica Grosso, Nicholas K. Hayward, Mary Hesdorffer, Chuong D. Hoang, Peter A. Johansson, Hedy L. Kindler, Muaiad Kittaneh, Thomas Krausz, Aaron S. Mansfield, Muzaffer Metintaş, Michael Minaai, Luciano Mutti, Maartje Nielsen, Kenneth J. O’Byrne, Isabelle Opitz, Sandra Pastorino, Francesca Pentimalli, Marc de Perrot, Antonia L. Pritchard, R. Taylor Ripley, B. W. Robinson, Valerie W. Rusch, Emanuela Taioli, Yasutaka Takinishi, Mika Tanji, Anne S. Tsao, Aziz Tuncer, Sebastian Walpole, Andrea Wolf, Haining Yang, Yoshie Yoshikawa, Alicia A. Zolondick, David S. Schrump, Raffit Hassan
منشور في 2022Revisão -
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Comprehensive Study of the Clinical Phenotype of Germline<i>BAP1</i>Variant-Carrying Families Worldwide حسب Sebastian Walpole, Antonia L. Pritchard, Colleen M. Cebulla, Robert Pilarski, Meredith Stautberg, Frederick H. Davidorf, Arnaud de la Fouchardière, Odile Cabaret, Lisa Golmard, Dominique Stoppa‐Lyonnet, Erin M. Garfield, Ching-Ni Jenny Njauw, Mitchell Cheung, Joni A. Turunen, Pauliina Repo, Reetta-Stiina Järvinen, Remco van Doorn, Martine J. Jager, Gregorius P. M. Luyten, Marina Marinkovic, Cindy Chau, Míriam Potrony, Veronica Höiom, Hildur Helgadóttir, Lorenza Pastorino, William Bruno, Virginia Andreotti, Bruna Dalmasso, Giulia Ciccarese, Paola Queirolo, Luca Mastracci, Karin Wadt, Jens Folke Kiilgaard, Michael R. Speicher, Natasha van Poppelen, Emine Kılıç, Rana’a T. Al‐Jamal, Irma Dianzani, Marta Betti, Carsten Bergmann, Sandro Santagata, Sonika Dahiya, Saleem Taibjee, Jo Burke, Nicola Poplawski, Sally J. O’Shea, Julia Newton‐Bishop, Julian Adlard, David J. Adams, Anne-Marie Lane, Ivana K. Kim, Sonja Klebe, Hilary Racher, J. William Harbour, Michael L. Nickerson, Rajmohan Murali, Jane M. Palmer, Madeleine Howlie, Judith Symmons, Hayley R. Hamilton, Sunil Warrier, William Glasson, Peter A. Johansson, Carla Daniela Robles‐Espinoza, Raúl Ossio, Annelies de Klein, Susana Puig, Paola Ghiorzo, Maartje Nielsen, Tero Kivelä, Hensin Tsao, Joseph R. Testa, Pedram Gerami, Marc‐Henri Stern, Brigitte Bressac–de Paillerets, Mohamed H. Abdel‐Rahman, Nicholas K. Hayward
منشور في 2018Revisão
أدوات البحث:
موضوعات ذات صلة
Biology
Gene
Genetics
Medicine
Mutation
RNA
Diamond–Blackfan anemia
Ribosome
BAP1
Phenotype
Genotype
Germline
Mesothelioma
Pathology
Cancer research
Germline mutation
Internal medicine
Molecular biology
Cancer
Chemistry
Exon
Genetic predisposition
Ribosomal protein
Allele
Antibody
Antigen
Asbestos
Autoimmunity
Biochemistry
CD8