CircRNAs in hematopoiesis and hematological malignancies
Bonizzato, A, Gaffo, E, te Kronnie, G, Bortoluzzi, S
Published in Blood cancer journal (New York) (14.10.2016)
Published in Blood cancer journal (New York) (14.10.2016)
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Genetic tests for low- and middle-income countries: a literature review
Maltese, P E, Poplavskaia, E, Malyutkina, I, Sirocco, F, Bonizzato, A, Capodicasa, N, Nicoulina, S Y, Salmina, A, Aksutina, N, Dundar, M, Beccari, T, Cecchin, S, Bertelli, M
Published in Genetics and molecular research (08.02.2017)
Published in Genetics and molecular research (08.02.2017)
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A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene
Michelini, S, Cardone, M, Haag, M, Agga, O, Bruson, A, Maltese, P E, Bonizzato, A, Bertelli, M
Published in Lymphology (01.03.2016)
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Published in Lymphology (01.03.2016)
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Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study
Tomaiuolo, R, Sangiuolo, F, Bombieri, C, Bonizzato, A, Cardillo, G, Raia, V, D'Apice, M.R, Bettin, M.D, Pignatti, P.F, Castaldo, G, Novelli, G
Published in Journal of cystic fibrosis (01.09.2008)
Published in Journal of cystic fibrosis (01.09.2008)
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Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis
Castellani, Carlo, Gomez Lira, Macarena, Frulloni, Luca, Delmarco, Antonella, Marzari, Maria, Bonizzato, Alberto, Cavallini, Giorgio, Pignatti, PierFranco, Mastella, Gianni
Published in Human mutation (01.08.2001)
Published in Human mutation (01.08.2001)
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Highly preferential association of NonF508del CF mutations with the M470 allele
Ciminelli, B.M, Bonizzato, A, Bombieri, C, Pompei, F, Gabaldo, M, Ciccacci, C, Begnini, A, Holubova, A, Zorzi, P, Piskackova, T, Macek, M, Castellani, C, Modiano, G, Pignatti, P.F
Published in Journal of cystic fibrosis (01.01.2007)
Published in Journal of cystic fibrosis (01.01.2007)
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Nasal potential difference in cystic fibrosis patients presenting borderline sweat test
Delmarco, A, Pradal, U, Cabrini, G, Bonizzato, A, Mastella, G
Published in The European respiratory journal (01.05.1997)
Published in The European respiratory journal (01.05.1997)
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Journal Article
DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease
Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P.M.A., Saute, Jonas A., Chien, Hsin Fen, Bouwkamp, Christian G., Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J., Zhang, Jianguo, Verheijen, Frans W., Boon, Agnita J.W., Kievit, Anneke J.A., Jardim, Laura Bannach, Mandemakers, Wim, Barbosa, Egberto Reis, Rieder, Carlos R.M., Leenders, Klaus L., Wang, Jun, Bonifati, Vincenzo
Published in Annals of neurology (01.02.2016)
Published in Annals of neurology (01.02.2016)
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A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease
BORGATO, Lorena, BONIZZATO, Alberto, LUNARDI, Claudio, DUSI, Stefano, ANDRIOLI, Giuseppe, SCARPERI, Anna, CORROCHER, Roberto
Published in Human genetics (01.06.2001)
Published in Human genetics (01.06.2001)
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372 Challenging diagnosis when CF or CFTR-related disorders are suspected: from genotype to phenotype and theratype
Melotti, P., Gerotto, M., Kleinfelder, K., Sorio, C., Terlizzi, V., Krivec, U., Pascolo, P., Tomba, F., Massella, A., Pintani, E., Veronesi, G., Hristodor, A., Bertini, M., Cipolli, M., Bonizzato, A., Savoia, A.
Published in Journal of cystic fibrosis (01.09.2024)
Published in Journal of cystic fibrosis (01.09.2024)
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Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism
Quadri, Marialuisa, Fang, Mingyan, Picillo, Marina, Olgiati, Simone, Breedveld, Guido J., Graafland, Josja, Wu, Bin, Xu, Fengping, Erro, Roberto, Amboni, Marianna, Pappatà, Sabina, Quarantelli, Mario, Annesi, Grazia, Quattrone, Aldo, Chien, Hsin F., Barbosa, Egberto R., Oostra, Ben A., Barone, Paolo, Wang, Jun, Bonifati, Vincenzo
Published in Human mutation (01.09.2013)
Published in Human mutation (01.09.2013)
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Evidence of mild respiratory disease in men with congenital absence of the vas deferens
CASTELLANI, C, BONIZZATO, A, PRADAL, U, FILICORI, M, FORESTA, C, LA SALA, G. B, MASTELLA, G
Published in Respiratory medicine (01.12.1999)
Published in Respiratory medicine (01.12.1999)
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Journal Article
The search for South European cystic fibrosis mutations: Identification of two new mutations, four variants, and intronic sequences
Gasparini, P., Nunes, V., Savoia, A., Dognini, M., Morral, N., Gaona, A., Bonizzato, A., Chillon, M., Sangiuolo, F., Novelli, G., Dallapiccola, B., Pignatt, P.F., Estivill, X.
Published in Genomics (San Diego, Calif.) (01.05.1991)
Published in Genomics (San Diego, Calif.) (01.05.1991)
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ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease
Di Fonzo, A, Chien, H F, Socal, M, Giraudo, S, Tassorelli, C, Iliceto, G, Fabbrini, G, Marconi, R, Fincati, E, Abbruzzese, G, Marini, P, Squitieri, F, Horstink, M W, Montagna, P, Libera, A Dalla, Stocchi, F, Goldwurm, S, Ferreira, J J, Meco, G, Martignoni, E, Lopiano, L, Jardim, L B, Oostra, B A, Barbosa, E R, Bonifati, V
Published in Neurology (08.05.2007)
Published in Neurology (08.05.2007)
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Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations
Gasparini, P., Bonizzato, A., Dognini, M., Pignatti, P.F.
Published in Molecular and cellular probes (01.02.1992)
Published in Molecular and cellular probes (01.02.1992)
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Journal Article
PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology
Wong, Tsz Hang, Chiu, Wang Zheng, Breedveld, Guido J., Li, Ka Wan, Verkerk, Annemieke J. M. H., Hondius, David, Hukema, Renate K., Seelaar, Harro, Frick, Petra, Severijnen, Lies-Anne, Lammers, Gert-Jan, Lebbink, Joyce H. G., van Duinen, Sjoerd G., Kamphorst, Wouter, Rozemuller, Annemieke J., Bakker, E. Bert, Neumann, Manuela, Willemsen, Rob, Bonifati, Vincenzo, Smit, August B., van Swieten, John
Published in Brain (London, England : 1878) (01.05.2014)
Published in Brain (London, England : 1878) (01.05.2014)
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