Search Results - "Bonizzato, A."

CircRNAs in hematopoiesis and hematological malignancies by Bonizzato, A, Gaffo, E, te Kronnie, G, Bortoluzzi, S

“…Cell states in hematopoiesis are controlled by master regulators and by complex circuits of a growing family of RNA species impacting cell phenotype…”
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Heparan Sulfate Glycosaminoglycans Are Receptors Sufficient To Mediate the Initial Binding of Adenovirus Types 2 and 5 by Dechecchi, M C, Melotti, P, Bonizzato, A, Santacatterina, M, Chilosi, M, Cabrini, G

“…Article Usage Stats Services JVI Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Genetic tests for low- and middle-income countries: a literature review by 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

“…The aim of this review is to describe a series of ten genetic diseases with Mendelian inheritance pattern in people of low- or middle-income countries, which…”
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A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene by Michelini, S, Cardone, M, Haag, M, Agga, O, Bruson, A, Maltese, P E, Bonizzato, A, Bertelli, M

“…Emberger syndrome, or primary lymphedema with myelodysplasia, is a severe rare disease characterized by early primary lymphedema and blood anomalies including…”
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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 by 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

“…Abstract Background Mutation epidemiology in each ethnic group is a crucial step of strategies for cystic fibrosis (CF) diagnosis and counselling. To date, the…”
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Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis by Castellani, Carlo, Gomez Lira, Macarena, Frulloni, Luca, Delmarco, Antonella, Marzari, Maria, Bonizzato, Alberto, Cavallini, Giorgio, Pignatti, PierFranco, Mastella, Gianni

“…Many Cystic Fibrosis (CF) carriers have been detected testing some subjects with chronic pancreatititis for a limited number of mutations. The aim of this…”
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Highly preferential association of NonF508del CF mutations with the M470 allele by 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

“…Abstract Background On the basis of previous findings on random individuals, we hypothesized a preferential association of CF causing mutations with the M…”
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CFTR mutations and IVS8-5T variant in newborns with hypertrypsinaemia and normal sweat test by Castellani, C, Bonizzato, A, Mastella, G

“…Neonates positive for immunoreactive trypsinogen assay (IRT) and negative for sweat test have formerly been found to carry the major cystic fibrosis (CF)…”
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Nasal potential difference in cystic fibrosis patients presenting borderline sweat test by Delmarco, A, Pradal, U, Cabrini, G, Bonizzato, A, Mastella, G

“…The diagnosis of cystic fibrosis (CF) can be difficult if the sweat test and routine deoxyribonucleic acid (DNA) analysis are inconclusive. Under these…”
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Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity by Castellani, C, Bonizzato, A, Cabrini, G, Mastella, G

“…To verify to what extent mutation analysis on blood spot could improve cystic fibrosis neonatal screening in an area with high allelic heterogeneity, we…”
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DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease by 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

“…Objective DNAJC6 mutations were recently described in two families with autosomal recessive juvenile parkinsonism (onset age < 11), prominent atypical signs,…”
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A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease by BORGATO, Lorena, BONIZZATO, Alberto, LUNARDI, Claudio, DUSI, Stefano, ANDRIOLI, Giuseppe, SCARPERI, Anna, CORROCHER, Roberto

“…Chronic granulomatous disease (CGD) is a rare inherited immunodeficiency that is caused by a functional defect of the NADPH oxidase of phagocytes, and that…”
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372 Challenging diagnosis when CF or CFTR-related disorders are suspected: from genotype to phenotype and theratype by 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.

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Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism by 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

“…ABSTRACT Autosomal recessive, early‐onset Parkinsonism is clinically and genetically heterogeneous. Here, we report the identification, by homozygosity mapping…”
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Cystic Fibrosis Mutations in Heterozygous Newborns with Hypertrypsinemia and Low Sweat Chloride by Castellani, C., Benetazzo, M.G., Bonizzato, A., Pignatti, P.F., Mastella, G.

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Evidence of mild respiratory disease in men with congenital absence of the vas deferens by CASTELLANI, C, BONIZZATO, A, PRADAL, U, FILICORI, M, FORESTA, C, LA SALA, G. B, MASTELLA, G

“…Cystic fibrosis (CF) is a severe disorder, whose main characteristics are, in addition to congenital absence of the vas deferens (CAVD), progressive lung…”
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The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences by Gasparini, P, Nunes, V, Savoia, A, Dognini, M, Morral, N, Gaona, A, Bonizzato, A, Chillon, M, Sangiuolo, F, Novelli, G

“…The major mutation in the cystic fibrosis (CF) gene is a 3-bp deletion (delta F508) in exon 10. About 50% of the CF chromosomes in Southern Europe carry this…”
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ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease by DI FONZO, A, CHIEN, H. F, MARINI, P, SQUITIERI, F, HORSTINK, M. W, MONTAGNA, P, DALLA LIBERA, A, STOCCHI, F, GOLDWURM, S, FERREIRA, J. J, MECO, G, MARTIGNONI, E, SOCAL, M, LOPIANO, L, JARDIM, L. B, OOSTRA, B. A, BARBOSA, E. R, BONIFATI, V, GIRAUDO, S, TASSORELLI, C, ILICETO, G, FABBRINI, G, MARCONI, R, FINCATI, E, ABBRUZZESE, G

“…To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young…”
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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 by Gasparini, P, Bonizzato, A, Dognini, M, Pignatti, P F

“…In this report we describe the use of a DNA amplification technique in which modified primers introduce a base substitution adjacent to the codon of interest…”
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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology by 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

“…Inclusions of intermediate filaments are found in a number of neurodegenerative diseases. Using whole exome sequencing, linkage analysis and proteomics, Wong…”
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