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Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
2016 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.
Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancers
2005 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
Results of a gene panel approach in a cohort of patients with incomplete distal renal tubular acidosis and nephrolithiasis
2021 D'Ambrosio, Viola; Azzara, A.; Sangiorgi, Eugenio; Gurrieri, Fiorella; Hess, B.; Gambaro, Giovanni; Ferraro, Pietro Manuel
Reversion to Normal of FMR1 Expanded Alleles: A Rare Event in Two Independent Fragile X Syndrome Families
2020 Tabolacci, Elisabetta; Pietrobono, Roberta; Maneri, Giulia; Remondini, Laura; Nobile, Veronica; Della Monica, Matteo; Pomponi, Maria Grazia; Genuardi, Maurizio; Neri, Giovanni; Chiurazzi, Pietro
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.
2013 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.
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
2016 Compagnucci, Claudia; Barresi, Sabina; Petrini, Stefania; Billuart, Pierre; Piccini, Giorgia; Chiurazzi, Pietro; Alfieri, Paolo; Bertini, Enrico; Zanni, Ginevra
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
2016 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
Rising Roles of Small Noncoding RNAs in Cotranscriptional Regulation: In Silico Study of miRNA and piRNA Regulatory Network in Humans
2020 Chetta, Massimiliano; Di Pietro, Lorena; Bukvic, Nenad; Lattanzi, Wanda
The Role of Genetic Testing in the Identification of Young Athletes with Inherited Primitive Cardiac Disorders at Risk of Exercise Sudden Death
2016 Tiziano, Francesco Danilo; Palmieri, Vincenzo; Genuardi, Maurizio; Zeppilli, Paolo
The role of molecular typing and perfect match transfusion in sickle cell disease and thalassaemia: An innovative transfusion strategy
2017 Putzulu, Rossana; Piccirillo, Nicola; Orlando, Nicoletta; Massini, Giuseppina; Maresca, Maddalena; Scavone, Fernando; Ricerca Storti, Bianca Maria; Zini Tanzi, Gina
Sarcomatoid adrenocortical carcinoma: a comprehensive pathological, immunohistochemical, and targeted next-generation sequencing analysis
2016 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
Screening for resistance to Fusarium ear rot disease in the USA maize inbred line collection using a rolled towel assay.
2016 Stagnati, Lorenzo; Lanubile, Alessandra; Busconi, Matteo; Battilani, Paola; Holland, J; Marocco, Adriano
Sequence Variant Classification and Reporting: Recommendations for Improving the Interpretation of Cancer Susceptibility Genetic Test Results
2008 Plon, S; Eccles, D; Easton, D; Foulkes, W; Genuardi, Maurizio; Greenblatt, M; Hogervorst, F; Hoogerbrugge, N; Spurdle, A; Tavtigian, S
Simple and complex genetics of colorectal cancer susceptibility
2004 Baglioni, S; Genuardi, Maurizio
Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue
2017 Vaisfeld, Alessandro; Pomponi, Maria Grazia; Pietrobono, Roberta; Tabolacci, Elisabetta; Neri, Giovanni
A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case
2007 Ricci, U; Melean, G; Robino, C; Genuardi, M
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration
2021 Barbier, M.; Camuzat, A.; Hachimi, K. E.; Guegan, J.; Rinaldi, D.; Lattante, Serena; Houot, M.; Sanchez-Valle, R.; Sabatelli, Mario; Antonell, A.; Molina-Porcel, L.; Clot, F.; Couratier, P.; Van Der Ende, E.; Van Der Zee, J.; Manzoni, C.; Camu, W.; Cazeneuve, C.; Sellal, F.; Didic, M.; Golfier, V.; Pasquier, F.; Duyckaerts, C.; Rossi, G.; Bruni, A. C.; Alvarez, V.; Gomez-Tortosa, E.; De Mendonca, A.; Graff, C.; Masellis, M.; Nacmias, B.; Oumoussa, B. M.; Jornea, L.; Forlani, S.; Van Deerlin, V.; Rohrer, J. D.; Gelpi, E.; Rademakers, R.; Van Swieten, J.; Le Guern, E.; Van Broeckhoven, C.; Ferrari, R.; Genin, E.; Brice, A.; Le Ber, I.
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
2021 Abiusi, E.; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, M.; Coratti, G.; Pera, M. C.; D'amico, A.; Diano, F.; Novelli, A.; Spartano, S.; Fiori, S.; Baranello, G.; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, K.; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, F.; Bruno, C.; Locatelli, D.; Bertini, E. S.; Morandi, L. O.; Mercuri, E.; Di Marcotullio, L.; Tiziano, F. D.
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples
2021 Abiusi, Emanuela; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, Marika; Coratti, Giorgia; Pera, Maria Carmela; D'Amico, Adele; Diano, Federica; Novelli, Agnese; Spartano, Serena; Fiori, Simona; Baranello, Giovanni; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, Krizia; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, Francesco; Bruno, C.; Locatelli, D.; Bertini, Enrico Silvio; Morandi, L. O.; Mercuri, Eugenio Maria; Di Marcotullio, L.; Tiziano, Francesco Danilo
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
2020 Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M. A.; Koelling, Nils; Mcgowan, Simon J.; Phipps, Julie M.; Balasubramanian, Meena; Cunningham, Michael L.; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E. V.; Shears, Deborah; Weber, Astrid; Wilson, Louise C.; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; England Research Consortium, Genomics; Boyadjiev, Simeon A.; Wilkie, Andrew O. M.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 1-gen-2017 | Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue | Vaisfeld, Alessandro; Pomponi, Maria Grazia; Pietrobono, Roberta; Tabolacci, Elisabetta; Neri, Giovanni | |
| 1-gen-2007 | A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case | Ricci, U; Melean, G; Robino, C; Genuardi, M | |
| 1-gen-2021 | SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration | Barbier, M.; Camuzat, A.; Hachimi, K. E.; Guegan, J.; Rinaldi, D.; Lattante, Serena; Houot, M.; Sanchez-Valle, R.; Sabatelli, Mario; Antonell, A.; Molina-Porcel, L.; Clot, F.; Couratier, P.; Van Der Ende, E.; Van Der Zee, J.; Manzoni, C.; Camu, W.; Cazeneuve, C.; Sellal, F.; Didic, M.; Golfier, V.; Pasquier, F.; Duyckaerts, C.; Rossi, G.; Bruni, A. C.; Alvarez, V.; Gomez-Tortosa, E.; De Mendonca, A.; Graff, C.; Masellis, M.; Nacmias, B.; Oumoussa, B. M.; Jornea, L.; Forlani, S.; Van Deerlin, V.; Rohrer, J. D.; Gelpi, E.; Rademakers, R.; Van Swieten, J.; Le Guern, E.; Van Broeckhoven, C.; Ferrari, R.; Genin, E.; Brice, A.; Le Ber, I. | |
| 1-gen-2021 | SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples | Abiusi, E.; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, M.; Coratti, G.; Pera, M. C.; D'amico, A.; Diano, F.; Novelli, A.; Spartano, S.; Fiori, S.; Baranello, G.; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, K.; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, F.; Bruno, C.; Locatelli, D.; Bertini, E. S.; Morandi, L. O.; Mercuri, E.; Di Marcotullio, L.; Tiziano, F. D. | |
| 1-gen-2021 | SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples | Abiusi, Emanuela; Infante, P.; Cagnoli, C.; Severini, L. L.; Pane, Marika; Coratti, Giorgia; Pera, Maria Carmela; D'Amico, Adele; Diano, Federica; Novelli, Agnese; Spartano, Serena; Fiori, Simona; Baranello, Giovanni; Moroni, I.; Mora, M.; Pasanisi, M. B.; Pocino, Krizia; Le Pera, L.; D'Amico, D.; Travaglini, L.; Ria, Francesco; Bruno, C.; Locatelli, D.; Bertini, Enrico Silvio; Morandi, L. O.; Mercuri, Eugenio Maria; Di Marcotullio, L.; Tiziano, Francesco Danilo | |
| 1-gen-2020 | SMAD6 variants in craniosynostosis: genotype and phenotype evaluation | Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M. A.; Koelling, Nils; Mcgowan, Simon J.; Phipps, Julie M.; Balasubramanian, Meena; Cunningham, Michael L.; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E. V.; Shears, Deborah; Weber, Astrid; Wilson, Louise C.; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; England Research Consortium, Genomics; Boyadjiev, Simeon A.; Wilkie, Andrew O. M. |
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