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Data di pubblicazione Titolo Autore(i) File
1-gen-2019 Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome. Sangiorgi, Eugenio; Azzara', Alessia; Molinario, C; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele
1-gen-2019 Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease Pelusi, Serena; Baselli, Guido; Pietrelli, Alessandro; Dongiovanni, Paola; Donati, Maria Benedetta; Mccain, Misti Vanette; Meroni, Marica; Fracanzani, Anna Ludovica; Romagnoli, Renato; Petta, Salvatore; Grieco, Antonio; Miele, Luca; Soardo, Giorgio; Bugianesi, Elisabetta; Fargion, Silvia; Aghemo, Alessio; D'Ambrosio, Roberta; Xing, Chao; Romeo, Stefano; De Francesco, Raffaele; Reeves, Helen Louise; Valenti, Luca Vittorio Carlo
1-gen-2017 Recent developments in olive (Olea europaea L.) genetics and genomics: applications in taxonomy, varietal identification, traceability and breeding Sebastiani, L; Busconi, Matteo
1-gen-2016 Recognizable facial features in patients with alternating hemiplegia of childhood. Gurrieri, Fiorella; Tiziano, Francesco Danilo; Zampino, Giuseppe; Neri, Giovanni
1-gen-1997 Recommendations for genetic counseling of familial adenomatous polyposis Guanti, G; Varesco, L; Crotti, N; Heouaine, A; De Stefano, F; Genuardi, Maurizio
1-gen-2016 Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients Pinto, Carmine; Bella, Maria Angela; Capoluongo, Ettore Domenico; Carrera, Paola; Clemente, Claudio; Colombo, Nicoletta; Cortesi, Laura; De Rosa, Gaetano; Fenizia, Francesca; Genuardi, Maurizio; Gori, Stefania; Guarneri, Valentina; Marchetti, Antonio; Marchetti, Paolo; Normanno, Nicola; Pasini, Barbara; Pignata, Sandro; Radice, Paolo; Ricevuto, Enrico; Dello Russo, Antonio; Tagliaferri, Pierosandro; Tassone, Pierfrancesco; Truini, Mauro; Varesco, Liliana
1-gen-2016 Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect Vogelaar, Ingrid P.; Ligtenberg, Marjolijn J. L.; van der Post, Rachel S.; de Voer, Richarda M.; Kets, C. Marleen; Jansen, Trees J. G.; Jacobs, Liesbeth; Schreibelt, Gerty; de Vries, I. Jolanda M.; Netea, Mihai G.; Hoogerbrugge, Nicoline; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Schackert, Hans K.; Aalfs, Cora M.; Gómez García, Encarna B.; Ranzani, Guglielmina N.; Molinaro, Valeria; van Hest, Liselotte P.; Hes, Frederik J.; Holinski Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G. E. M.; Sijmons, Rolf H.; Wagner, Anja; van der Kolk, Lizet E.; Pinheiro, Hugo; Oliveira, Carla; Bjørnevoll, Inga; Høberg Vetti, Hildegunn; Han, J.; van Krieken, J. M.
1-gen-2005 Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers Morganti, Margaux; Ciantelli, M; Giglioni, B; Putignano, A; Nobili, S; Papi, L; Landini, I; Napoli, Chiara; Valanzano, R; Cianchi, F; Boddi, V; Tonelli, F; Cortesini, C; Mazzei, T; Genuardi, Maurizio; Mini, E
1-gen-2021 Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis D'Ambrosio, Viola; Azzara, A.; Sangiorgi, Eugenio; Gurrieri, Fiorella; Hess, B.; Gambaro, Giovanni; Ferraro, Pietro Manuel
1-gen-2020 Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro
1-gen-2013 Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Vasen, H. F. A.; Blanco, I.; Aktan-Collan, K.; Gopie, J. P.; Alonso, A.; Aretz, S.; Bernstein, I.; Bertario, L.; Burn, J.; Capella, G.; Colas, C.; Engel, C.; Frayling, I. M.; Genuardi, Maurizio; Hes, F. J.; Hodgson, S. V.; Karagiannis, J. A.; Lalloo, F.; Lindblom, A.; Mecklin, J. -P.; Moller, P.; Myrhoj, T.; Nagengast, F. M.; Parc, Y.; De Leon, M. P.; Renkonen-Sinisalo, L.; Sampson, J. R.; Stormorken, A.; Sijmons, R. H.; Tejpar, S.; Thomas, H. J. W.; Rahner, N.; Wijnen, J. T.; Jarvinen, H. J.; Moslein, G.
1-gen-2016 Rho kinase inhibition is essential during in vitro neurogenesis and promotes phenotypic rescue of human induced pluripotent stem cell-derived neurons with oligophrenin-1 loss of function Compagnucci, Claudia; Barresi, Sabina; Petrini, Stefania; Billuart, Pierre; Piccini, Giorgia; Chiurazzi, Pietro; Alfieri, Paolo; Bertini, Enrico; Zanni, Ginevra
1-gen-2016 Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency Olsen, Rikke K. J; Koňaříková, Eliška; Giancaspero, Teresa A.; Mosegaard, Signe; Boczonadi, Veronika; Mataković, Lavinija; Veauville Merllié, Alice; Terrile, Caterina; Schwarzmayr, Thomas; Haack, Tobias B.; Auranen, Mari; Leone, Piero; Galluccio, Michele; Imbard, Apolline; Gutierrez Rios, Purificacion; Palmfeldt, Johan; Graf, Elisabeth; Vianey Saban, Christine; Oppenheim, Marcus; Schiff, Manuel; Pichard, Samia; Rigal, Odile; Pyle, Angela; Chinnery, Patrick F.; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Feichtinger, René G.; Talim, Beril; Topaloglu, Haluk; Coskun, Turgay; Gucer, Safak; Botta, Annalisa; Pegoraro, Elena; Malena, Adriana; Vergani, Lodovica; Mazza', Daniela; Zollino, Marcella; Ghezzi, Daniele Maria; Acquaviva, Cecile; Tyni, Tiina; Boneh, Avihu; Meitinger, Thomas; Strom, Tim M.; Gregersen, Niels; Mayr, Johannes A.; Horvath, Rita; Barile, Maria; Prokisch, Holger
1-gen-2020 Rising Roles of Small Noncoding RNAs in Cotranscriptional Regulation: In Silico Study of miRNA and piRNA Regulatory Network in Humans Chetta, Massimiliano; Di Pietro, Lorena; Bukvic, Nenad; Lattanzi, Wanda
1-gen-2016 The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death Tiziano, Francesco Danilo; Palmieri, Vincenzo; Genuardi, Maurizio; Zeppilli, Paolo
1-gen-2017 The role of molecular typing and perfect match transfusion in sickle cell disease and thalassaemia: An innovative transfusion strategy Putzulu, Rossana; Piccirillo, Nicola; Orlando, Nicoletta; Massini, Giuseppina; Maresca, Maddalena; Scavone, Fernando; Ricerca Storti, Bianca Maria; Zini Tanzi, Gina
1-gen-2016 Sarcomatoid adrenocortical carcinoma: a comprehensive pathological, immunohistochemical, and targeted next-generation sequencing analysis Papathomas Thomas, G; Duregon, Eleonora; Korpershoek, Esther; Restuccia David, F; van Marion, R; Cappellesso, Rocco; Sturm, N; Rossi, Giulio; Coli, Antonella; Zucchini, Nicola; Stoop, Hans; Oosterhuis, Wolter; Ventura, Laura; Volante, Marco; Fassina, Ambrogio; Dinjens Winand, Nm; Papotti, Mauro; de Krijger Ronald, R
1-gen-2016 Screening for resistance to Fusarium ear rot disease in the USA maize inbred line collection using a rolled towel assay. Stagnati, Lorenzo; Lanubile, Alessandra; Busconi, Matteo; Battilani, Paola; Holland, J; Marocco, Adriano
1-gen-2008 Sequence Variant Classification and Reporting: Recommendations for Improving the Interpretation of Cancer Susceptibility Genetic Test Results Plon, S; Eccles, D; Easton, D; Foulkes, W; Genuardi, Maurizio; Greenblatt, M; Hogervorst, F; Hoogerbrugge, N; Spurdle, A; Tavtigian, S
1-gen-2004 Simple and complex genetics of colorectal cancer susceptibility Baglioni, S; Genuardi, Maurizio
Mostrati risultati da 189 a 208 di 240
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