Sfoglia per Autore
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility
2023-01-01 Leone, Maria Pia; Morlino, Silvia; Nardella, Grazia; Pracella, Riccardo; Giachino, Daniela; Celli, Luca; Baldo, Demetrio; Turolla, Licia; Piccione, Maria; Salzano, Emanuela; Busè, Martina; Lastella, Patrizia; Zollino, Marcella; Cantone, Rachele; Grosso, Enrico; Zonta, Andrea; Pasini, Barbara; Piscopo, Carmelo; De Maggio, Ilaria; Priolo, Manuela; Mammi, Corrado; Foiadelli, Thomas; Trabatti, Chiara; Savasta, Salvatore; Iolascon, Achille; Ferraris, Alessandro; Lodato, Valentina; Di Giosaffatte, Niccolò; Majore, Silvia; Selicorni, Angelo; Petracca, Antonio; Fusco, Carmela; Celli, Mauro; Guarnieri, Vito; Micale, Lucia; Castori, Marco
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis
2023-01-01 Ferraro, Pietro Manuel; D'Ambrosio, Viola; Gambaro, Giovanni; Giachino, Daniela; Groothoff, Jaap; Mandrile, Giorgia
Glucocorticoid Receptor Polymorphism A3669G Is Associated with Airflow Obstruction in Mild-to-Severe Asthma
2023-01-01 Mognetti, B; Giachino, DF; Bertolini, F; Carriero, V; Sprio, AE; Ricciardolo, FLM
Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants
2022-01-01 Sutera, Samuele; Giachino, Daniela Francesca; Pelle, Alessandra; Zuntini, Roberta; Pentenero, Monica
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment
2022-01-01 Sculco M.; La Vecchia M.; Aspesi A.; Pinton G.; Clavenna M.G.; Casalone E.; Allione A.; Grosso F.; Libener R.; Muzio A.; Rena O.; Baietto G.; Parini S.; Boldorini R.; Giachino D.; Papotti M.; Scagliotti G.V.; Migliore E.; Mirabelli D.; Moro L.; Magnani C.; Ferrante D.; Matullo G.; Dianzani I.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
2022-01-01 Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuño, Cristina Gil; Lacunza, Javier; Giachino, Daniela F; Cerrato, Natascia; Martins, Raphaël P; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurélie; Kyndt, Florence; Mazzanti, Andrea; Clémenty, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noël, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B; Boukens, Bas J; Škorić-Milosavljević, Doris; Bikker, Hennie; Manevy, Federico C; Lichtner, Peter; Ribasés, Marta; Meitinger, Thomas; Müller-Nurasyid, Martina; Veldink, Jan H; van den Berg, Leonard H; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stéphanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Hervé; Chatel, Stéphanie; Karakachoff, Matilde; Bézieau, Stéphane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E; Cerrone, Marina; Chinitz, Larry A; Volders, Paul G; van de Berg, Maarten P; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kääb, Stefan; Arnaout, Alain Al; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G; Napolitano, Carlo; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R; Hasdemir, Can; Schwartz, Peter J; Crotti, Lia; McKeown, Pascal P; Sharma, Sanjay; Behr, Elijah R; Haissaguerre, Michel; Sacher, Frédéric; Rooryck, Caroline; Tan, Hanno L; Remme, Carol A; Postema, Pieter G; Delmar, Mario; Ellinor, Patrick T; Lubitz, Steven A; Gourraud, Jean-Baptiste; Tanck, Michael W; George, Alfred L; MacRae, Calum A; Burridge, Paul W; Dina, Christian; Probst, Vincent; Wilde, Arthur A; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience
2022-01-01 Sculco, Marika; La Vecchia, Marta; Aspesi, Anna; Clavenna, Michela Giulia; Salvo, Michela; Borgonovi, Giulia; Pittaro, Alessandra; Witel, Gianluca; Napoli, Francesca; Listì, Angela; Grosso, Federica; Libener, Roberta; Maconi, Antonio; Rena, Ottavio; Boldorini, Renzo; Giachino, Daniela; Bironzo, Paolo; Maffè, Antonella; Alì, Greta; Elefanti, Lisa; Menin, Chiara; Righi, Luisella; Tampieri, Cristian; Scagliotti, Giorgio Vittorio; Dianzani, Caterina; Ferrante, Daniela; Migliore, Enrica; Magnani, Corrado; Mirabelli, Dario; Matullo, Giuseppe; Dianzani, Irma
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease
2022-01-01 Mandrile, Giorgia; Pelle, Alessandra; Sciannameo, Veronica; Benetti, Elisa; D'Alessandro, Maria Michela; Emma, Francesco; Montini, Giovanni; Peruzzi, Licia; Petrarulo, Michele; Romagnoli, Renato; Vitale, Corrado; Cellini, Barbara; Giachino, Daniela
Effects of eight neuropsychiatric copy number variants on human brain structure
2021-01-01 Modenato C.; Kumar K.; Moreau C.; Martin-Brevet S.; Huguet G.; Schramm C.; Jean-Louis M.; Martin C.-O.; Younis N.; Tamer P.; Douard E.; Thebault-Dagher F.; Cote V.; Charlebois A.-R.; Deguire F.; Maillard A.M.; Rodriguez-Herreros B.; Pain A.; Richetin S.; Addor M.-C.; Andrieux J.; Arveiler B.; Baujat G.; Sloan-Bena F.; Belfiore M.; Bonneau D.; Bouquillon S.; Boute O.; Brusco A.; Busa T.; Caberg J.-H.; Campion D.; Colombert V.; Cordier M.-P.; David A.; Debray F.-G.; Delrue M.-A.; Doco-Fenzy M.; Dunkhase-Heinl U.; Edery P.; Fagerberg C.; Faivre L.; Forzano F.; Genevieve D.; Gerard M.; Giachino D.; Guichet A.; Guillin O.; Heron D.; Isidor B.; Jacquette A.; Jaillard S.; Journel H.; Keren B.; Lacombe D.; Lebon S.; Le Caignec C.; Lemaitre M.-P.; Lespinasse J.; Mathieu-Dramart M.; Mercier S.; Mignot C.; Missirian C.; Petit F.; Pilekaer Sorensen K.; Pinson L.; Plessis G.; Prieur F.; Raymond A.; Rooryck-Thambo C.; Rossi M.; Sanlaville D.; Schlott Kristiansen B.; Schluth-Bolard C.; Till M.; Van Haelst M.; Van Maldergem L.; Alupay H.; Aaronson B.; Ackerman S.; Ankenman K.; Anwar A.; Atwell C.; Bowe A.; Beaudet A.L.; Benedetti M.; Berg J.; Berman J.; Berry L.N.; Bibb A.L.; Blaskey L.; Brennan J.; Brewton C.M.; Buckner R.; Bukshpun P.; Burko J.; Cali P.; Cerban B.; Chang Y.; Cheong M.; Chow V.; Chu Z.; Chudnovskaya D.; Cornew L.; Dale C.; Dell J.; Dempsey A.G.; Deschamps T.; Earl R.; Edgar J.; Elgin J.; Olson J.E.; Evans Y.L.; Findlay A.; Fischbach G.D.; Fisk C.; Fregeau B.; Gaetz B.; Gaetz L.; Garza S.; Gerdts J.; Glenn O.; Gobuty S.E.; Golembski R.; Greenup M.; Heiken K.; Hines K.; Hinkley L.; Jackson F.I.; Jenkins J.; Jeremy R.J.; Johnson K.; Kanne S.M.; Kessler S.; Khan S.Y.; Ku M.; Kuschner E.; Laakman A.L.; Lam P.; Lasala M.W.; Lee H.; LaGuerre K.; Levy S.; Cavanagh A.L.; Llorens A.V.; Campe K.L.; Luks T.L.; Marco E.J.; Martin S.; Martin A.J.; Marzano G.; Masson C.; McGovern K.E.; Keehn R.M.N.; Miller D.T.; Miller F.K.; Moss T.J.; Murray R.; Nagarajan S.S.; Nowell K.P.; Owen J.; Paal A.M.; Packer A.; Page P.Z.; Paul B.M.; Peters A.; Peterson D.; Poduri A.; Pojman N.J.; Porche K.; Proud M.B.; Qasmieh S.; Ramocki M.B.; Reilly B.; Roberts T.P.L.; Shaw D.; Sinha T.; Smith-Packard B.; Gallagher A.S.; Swarnakar V.; Thieu T.; Triantafallou C.; Vaughan R.; Wakahiro M.; Wallace A.; Ward T.; Wenegrat J.; Wolken A.; Melie-Garcia L.; Kushan L.; Silva A.I.; van den Bree M.B.M.; Linden D.E.J.; Owen M.J.; Hall J.; Lippe S.; Chakravarty M.; Bzdok D.; Bearden C.E.; Draganski B.; Jacquemont S.
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience
2021-01-01 Tiziana Vaisitti, Monica Sorbini, Martina Callegari, Silvia Kalantari, Valeria Bracciamà, Francesca Arruga, Silvia Bruna Vanzino, Sabina Rendine, Gabriele Togliatto, Daniela Giachino, Alessandra Pelle, Enrico Cocchi, Chiara Benvenuta, Simone Baldovino, Cristiana Rollino, Roberta Fenoglio, Savino Sciascia, Michela Tamagnone, Corrado Vitale, Giovanni Calabrese, Luigi Biancone, Stefania Bussolino, Silvana Savoldi, Maurizio Borzumati, Vincenzo Cantaluppi, Fabio Chiappero, Silvana Ungari, Licia Peruzzi, Dario Roccatello, Antonio Amoroso, Silvia Deaglio
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
2021-01-01 Walsh R.; Lahrouchi N.; Tadros R.; Kyndt F.; Glinge C.; Postema P.G.; Amin A.S.; Nannenberg E.A.; Ware J.S.; Whiffin N.; Mazzarotto F.; Skoric-Milosavljevic D.; Krijger C.; Arbelo E.; Babuty D.; Barajas-Martinez H.; Beckmann B.M.; Bezieau S.; Bos J.M.; Breckpot J.; Campuzano O.; Castelletti S.; Celen C.; Clauss S.; Corveleyn A.; Crotti L.; Dagradi F.; de Asmundis C.; Denjoy I.; Dittmann S.; Ellinor P.T.; Ortuno C.G.; Giustetto C.; Gourraud J.-B.; Hazeki D.; Horie M.; Ishikawa T.; Itoh H.; Kaneko Y.; Kanters J.K.; Kimoto H.; Kotta M.-C.; Krapels I.P.C.; Kurabayashi M.; Lazarte J.; Leenhardt A.; Loeys B.L.; Lundin C.; Makiyama T.; Mansourati J.; Martins R.P.; Mazzanti A.; Morner S.; Napolitano C.; Ohkubo K.; Papadakis M.; Rudic B.; Molina M.S.; Sacher F.; Sahin H.; Sarquella-Brugada G.; Sebastiano R.; Sharma S.; Sheppard M.N.; Shimamoto K.; Shoemaker M.B.; Stallmeyer B.; Steinfurt J.; Tanaka Y.; Tester D.J.; Usuda K.; van der Zwaag P.A.; Van Dooren S.; Van Laer L.; Winbo A.; Winkel B.G.; Yamagata K.; Zumhagen S.; Volders P.G.A.; Lubitz S.A.; Antzelevitch C.; Platonov P.G.; Odening K.E.; Roden D.M.; Roberts J.D.; Skinner J.R.; Tfelt-Hansen J.; van den Berg M.P.; Olesen M.S.; Lambiase P.D.; Borggrefe M.; Hayashi K.; Rydberg A.; Nakajima T.; Yoshinaga M.; Saenen J.B.; Kaab S.; Brugada P.; Robyns T.; Giachino D.F.; Ackerman M.J.; Brugada R.; Brugada J.; Gimeno J.R.; Hasdemir C.; Guicheney P.; Priori S.G.; Schulze-Bahr E.; Makita N.; Schwartz P.J.; Shimizu W.; Aiba T.; Schott J.-J.; Redon R.; Ohno S.; Probst V.; Arnaout A.A.; Amelot M.; Anselme F.; Billon O.; Defaye P.; Dupuis J.-M.; Jesel L.; Laurent G.; Maury P.; Pasquie J.-L.; Wiart F.; Behr E.R.; Barc J.; Bezzina C.R.
Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients
2020-01-01 Giustetto, Carla; Nangeroni, Giulia; Cerrato, Natascia; Rudic, Boris; Tülümen, Erol; Gribaudo, Elena; Giachino, Daniela Francesca; Barbonaglia, Lorella; Biava, Lorenza Michela; Carvalho, Paula; Bergamasco, Laura; Borggrefe, Martin; Gaita, Fiorenzo
NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE
2020-01-01 Deaglio, Silvia; Amoroso, Antonio; Roccatello, Dario; Peruzzi, Licia; Gianoglio, Bruno; Viglino, Giusto; Bertinetto, Patrizia; Borzumati, Maurizio; Funaro, Loredana; Santi, Sonia; Maroni, Serena; Strampelli, Emanuela; Biancone, Luigi; Leonardi, Gianluca; Calabrese, Giovanni; Berta, Valentina; Vitale, Corrado; Soragna, Giorgio; Gherzi, Maurizio; Tamagnone, Michela; Fenoglio, Roberta; Rollino, Cristiana; Baldovino, Simone; Cocchi, Enrico; Giachino, Daniela; Pelle, Alessandra; Vanzino, Silvia Bruna; Arruga, Francesca; Bracciamà, Valeria; Kalantari, Silvia; Callegari, Martina; Sorbini, Monica; Vaisitti, Tiziana
Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
2020-01-01 Kidd K.; Vylet'al P.; Schaeffer C.; Olinger E.; Zivna M.; Hodanova K.; Robins V.; Johnson E.; Taylor A.; Martin L.; Izzi C.; Jorge S.C.; Calado J.; Torres R.J.; Lhotta K.; Steubl D.; Gale D.P.; Gast C.; Gombos E.; Ainsworth H.C.; Chen Y.M.; Almeida J.R.; de Souza C.F.; Silveira C.; Raposeiro R.; Weller N.; Conlon P.J.; Murray S.L.; Benson K.A.; Cavalleri G.L.; Votruba M.; Vrbacka A.; Amoroso A.; Giachino D.; Caridi G.; Ghiggeri G.M.; Divers J.; Scolari F.; Devuyst O.; Rampoldi L.; Kmoch S.; Bleyer A.J.
USE OF CLINICAL EXOME SEQUENCING IN THE DIAGNOSTIC FLOW OF MONOGENIC KIDNEY DISEASES: THE PIEDMONT EXPERIENCE
2020-01-01 Deaglio, Silvia; Amoroso, Antonio; Roccatello, Dario; Peruzzi, Licia; Fenoglio, Roberta; Rollino, Cristiana; Baldovino, Simone; Cocchi, Enrico; Giachino, Daniela; Pelle, Alessandra; Vanzino, Silvia Bruna; Arruga, Francesca; Bracciamà, Valeria; Kalantari, Silvia; Callegari, Martina; Sorbini, Monica; Vaisitti, Tiziana
The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization
2020-01-01 Dindo M.; Mandrile G.; Conter C.; Montone R.; Giachino D.; Pelle A.; Costantini C.; Cellini B.
Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene
2019-01-01 Monasky M.M.; Micaglio E.; Giachino D.; Ciconte G.; Giannelli L.; Locati E.T.; Ramondini E.; Cotugno R.; Vicedomini G.; Borrelli V.; Ghiroldi A.; Anastasia L.; Pappone C.
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations
2019-01-01 Alonso Cárdenas-de-la-Parra, Sandra Martin-Brevet, Clara Moreau , Borja Rodriguez-Herreros , Vladimir S Fonov , Anne M Maillard , Nicole R Zürcher, 16p11.2 European Consortium; Nouchine Hadjikhani 48, Jacques S Beckmann 49, Alexandre Reymond 50, Bogdan Draganski 51, Sébastien Jacquemont 52, D Louis Collins 1; Marie-Claude Addor 7, Joris Andrieux 8, Benoît Arveiler 9, Geneviève Baujatm 10, Frédérique Sloan-Bénan 11, Marco Belfiore, Dominique Bonneau 12, Sonia Bouquillon 13, Odile Boute 14, Alfredo Brusco, Tiffany Busa 16, Jean-Hubert Caberg 17, Dominique Campion 18, Vanessa Colombert 19, Marie-Pierre Cordier 20, Albert David 21, François-Guillaume Debray 22, Marie-Ange Delrue 23, Martine Doco-Fenzy 24, Ulrike Dunkhase-Heinl 25, Patrick Edery 20, Christina Fagerberg 26, Laurence Faivre 27, Francesca Forzano, David Genevieve 29, Marion Gérard 30, Daniela Giachino, Agnès Guichet 32, Olivier Guillin 33, Delphine Héron 34, Bertrand Isidor 21, Aurélia Jacquette 34, Sylvie Jaillard 35, Hubert Journel 19, Boris Keren 36, Didier Lacombe 9, Sébastien Lebon 37, Cédric Le Caignec 38, Marie-Pierre Lemaître 39, James Lespinasse 40, Michèle Mathieu-Dramart 41, Sandra Mercier 21, Cyril Mignot 34, Chantal Missirian 16, Florence Petit 42, Kristina Pilekær Sørensen 26, Lucile Pinson 29, Ghislaine Plessis 30, Fabienne Prieur 43, Caroline Rooryck-Thambo 44, Massimiliano Rossi, Damien Sanlaville 45, Britta Schlott Kristiansen 26, Caroline Schluth-Bolard 45, Marianne Till 20, Mieke Van Haelst 46, Lionel Van Maldergem
The Role of Genetic Factors in Characterizing Extra-Intestinal Manifestations in Crohn's Disease Patients: Are Bayesian Machine Learning Methods Improving Outcome Predictions?
2019-01-01 Bottigliengo, Daniele; Berchialla, Paola; Lanera, Corrado; Azzolina, Danila; Lorenzoni, Giulia; Martinato, Matteo; Giachino, Daniela; Baldi, Ileana; Gregori, Dario
Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants
2019-01-01 Middelkamp, Sjors; Vlaar, Judith M; Giltay, Jacques; Korzelius, Jerome; Besselink, Nicolle; Boymans, Sander; Janssen, Roel; de la Fonteijne, Lisanne; van Binsbergen, Ellen; van Roosmalen, Markus J; Hochstenbach, Ron; Giachino, Daniela; Talkowski, Michael E; Kloosterman, Wigard P; Cuppen, Edwin
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility | 2023 | Leone, Maria Pia; Morlino, Silvia; Nardella, Grazia; Pracella, Riccardo; Giachino, Daniela; Celli, Luca; Baldo, Demetrio; Turolla, Licia; Piccione, Maria; Salzano, Emanuela; Busè, Martina; Lastella, Patrizia; Zollino, Marcella; Cantone, Rachele; Grosso, Enrico; Zonta, Andrea; Pasini, Barbara; Piscopo, Carmelo; De Maggio, Ilaria; Priolo, Manuela; Mammi, Corrado; Foiadelli, Thomas; Trabatti, Chiara; Savasta, Salvatore; Iolascon, Achille; Ferraris, Alessandro; Lodato, Valentina; Di Giosaffatte, Niccolò; Majore, Silvia; Selicorni, Angelo; Petracca, Antonio; Fusco, Carmela; Celli, Mauro; Guarnieri, Vito; Micale, Lucia; Castori, Marco | |
| A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis | 2023 | Ferraro, Pietro Manuel; D'Ambrosio, Viola; Gambaro, Giovanni; Giachino, Daniela; Groothoff, Jaap; Mandrile, Giorgia | |
| Glucocorticoid Receptor Polymorphism A3669G Is Associated with Airflow Obstruction in Mild-to-Severe Asthma | 2023 | Mognetti, B; Giachino, DF; Bertolini, F; Carriero, V; Sprio, AE; Ricciardolo, FLM | |
| Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants | 2022 | Sutera, Samuele; Giachino, Daniela Francesca; Pelle, Alessandra; Zuntini, Roberta; Pentenero, Monica | |
| Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment | 2022 | Sculco M.; La Vecchia M.; Aspesi A.; Pinton G.; Clavenna M.G.; Casalone E.; Allione A.; Grosso F.; Libener R.; Muzio A.; Rena O.; Baietto G.; Parini S.; Boldorini R.; Giachino D.; Papotti M.; Scagliotti G.V.; Migliore E.; Mirabelli D.; Moro L.; Magnani C.; Ferrante D.; Matullo G.; Dianzani I. | |
| Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility | 2022 | Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuño, Cristina Gil; Lacunza, Javier; Giachino, Daniela F; Cerrato, Natascia; Martins, Raphaël P; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurélie; Kyndt, Florence; Mazzanti, Andrea; Clémenty, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noël, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B; Boukens, Bas J; Škorić-Milosavljević, Doris; Bikker, Hennie; Manevy, Federico C; Lichtner, Peter; Ribasés, Marta; Meitinger, Thomas; Müller-Nurasyid, Martina; Veldink, Jan H; van den Berg, Leonard H; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stéphanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Hervé; Chatel, Stéphanie; Karakachoff, Matilde; Bézieau, Stéphane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E; Cerrone, Marina; Chinitz, Larry A; Volders, Paul G; van de Berg, Maarten P; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kääb, Stefan; Arnaout, Alain Al; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G; Napolitano, Carlo; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R; Hasdemir, Can; Schwartz, Peter J; Crotti, Lia; McKeown, Pascal P; Sharma, Sanjay; Behr, Elijah R; Haissaguerre, Michel; Sacher, Frédéric; Rooryck, Caroline; Tan, Hanno L; Remme, Carol A; Postema, Pieter G; Delmar, Mario; Ellinor, Patrick T; Lubitz, Steven A; Gourraud, Jean-Baptiste; Tanck, Michael W; George, Alfred L; MacRae, Calum A; Burridge, Paul W; Dina, Christian; Probst, Vincent; Wilde, Arthur A; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R | |
| Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience | 2022 | Sculco, Marika; La Vecchia, Marta; Aspesi, Anna; Clavenna, Michela Giulia; Salvo, Michela; Borgonovi, Giulia; Pittaro, Alessandra; Witel, Gianluca; Napoli, Francesca; Listì, Angela; Grosso, Federica; Libener, Roberta; Maconi, Antonio; Rena, Ottavio; Boldorini, Renzo; Giachino, Daniela; Bironzo, Paolo; Maffè, Antonella; Alì, Greta; Elefanti, Lisa; Menin, Chiara; Righi, Luisella; Tampieri, Cristian; Scagliotti, Giorgio Vittorio; Dianzani, Caterina; Ferrante, Daniela; Migliore, Enrica; Magnani, Corrado; Mirabelli, Dario; Matullo, Giuseppe; Dianzani, Irma | |
| Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease | 2022 | Mandrile, Giorgia; Pelle, Alessandra; Sciannameo, Veronica; Benetti, Elisa; D'Alessandro, Maria Michela; Emma, Francesco; Montini, Giovanni; Peruzzi, Licia; Petrarulo, Michele; Romagnoli, Renato; Vitale, Corrado; Cellini, Barbara; Giachino, Daniela | |
| Effects of eight neuropsychiatric copy number variants on human brain structure | 2021 | Modenato C.; Kumar K.; Moreau C.; Martin-Brevet S.; Huguet G.; Schramm C.; Jean-Louis M.; Martin C.-O.; Younis N.; Tamer P.; Douard E.; Thebault-Dagher F.; Cote V.; Charlebois A.-R.; Deguire F.; Maillard A.M.; Rodriguez-Herreros B.; Pain A.; Richetin S.; Addor M.-C.; Andrieux J.; Arveiler B.; Baujat G.; Sloan-Bena F.; Belfiore M.; Bonneau D.; Bouquillon S.; Boute O.; Brusco A.; Busa T.; Caberg J.-H.; Campion D.; Colombert V.; Cordier M.-P.; David A.; Debray F.-G.; Delrue M.-A.; Doco-Fenzy M.; Dunkhase-Heinl U.; Edery P.; Fagerberg C.; Faivre L.; Forzano F.; Genevieve D.; Gerard M.; Giachino D.; Guichet A.; Guillin O.; Heron D.; Isidor B.; Jacquette A.; Jaillard S.; Journel H.; Keren B.; Lacombe D.; Lebon S.; Le Caignec C.; Lemaitre M.-P.; Lespinasse J.; Mathieu-Dramart M.; Mercier S.; Mignot C.; Missirian C.; Petit F.; Pilekaer Sorensen K.; Pinson L.; Plessis G.; Prieur F.; Raymond A.; Rooryck-Thambo C.; Rossi M.; Sanlaville D.; Schlott Kristiansen B.; Schluth-Bolard C.; Till M.; Van Haelst M.; Van Maldergem L.; Alupay H.; Aaronson B.; Ackerman S.; Ankenman K.; Anwar A.; Atwell C.; Bowe A.; Beaudet A.L.; Benedetti M.; Berg J.; Berman J.; Berry L.N.; Bibb A.L.; Blaskey L.; Brennan J.; Brewton C.M.; Buckner R.; Bukshpun P.; Burko J.; Cali P.; Cerban B.; Chang Y.; Cheong M.; Chow V.; Chu Z.; Chudnovskaya D.; Cornew L.; Dale C.; Dell J.; Dempsey A.G.; Deschamps T.; Earl R.; Edgar J.; Elgin J.; Olson J.E.; Evans Y.L.; Findlay A.; Fischbach G.D.; Fisk C.; Fregeau B.; Gaetz B.; Gaetz L.; Garza S.; Gerdts J.; Glenn O.; Gobuty S.E.; Golembski R.; Greenup M.; Heiken K.; Hines K.; Hinkley L.; Jackson F.I.; Jenkins J.; Jeremy R.J.; Johnson K.; Kanne S.M.; Kessler S.; Khan S.Y.; Ku M.; Kuschner E.; Laakman A.L.; Lam P.; Lasala M.W.; Lee H.; LaGuerre K.; Levy S.; Cavanagh A.L.; Llorens A.V.; Campe K.L.; Luks T.L.; Marco E.J.; Martin S.; Martin A.J.; Marzano G.; Masson C.; McGovern K.E.; Keehn R.M.N.; Miller D.T.; Miller F.K.; Moss T.J.; Murray R.; Nagarajan S.S.; Nowell K.P.; Owen J.; Paal A.M.; Packer A.; Page P.Z.; Paul B.M.; Peters A.; Peterson D.; Poduri A.; Pojman N.J.; Porche K.; Proud M.B.; Qasmieh S.; Ramocki M.B.; Reilly B.; Roberts T.P.L.; Shaw D.; Sinha T.; Smith-Packard B.; Gallagher A.S.; Swarnakar V.; Thieu T.; Triantafallou C.; Vaughan R.; Wakahiro M.; Wallace A.; Ward T.; Wenegrat J.; Wolken A.; Melie-Garcia L.; Kushan L.; Silva A.I.; van den Bree M.B.M.; Linden D.E.J.; Owen M.J.; Hall J.; Lippe S.; Chakravarty M.; Bzdok D.; Bearden C.E.; Draganski B.; Jacquemont S. | |
| Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience | 2021 | Tiziana Vaisitti, Monica Sorbini, Martina Callegari, Silvia Kalantari, Valeria Bracciamà, Francesca Arruga, Silvia Bruna Vanzino, Sabina Rendine, Gabriele Togliatto, Daniela Giachino, Alessandra Pelle, Enrico Cocchi, Chiara Benvenuta, Simone Baldovino, Cristiana Rollino, Roberta Fenoglio, Savino Sciascia, Michela Tamagnone, Corrado Vitale, Giovanni Calabrese, Luigi Biancone, Stefania Bussolino, Silvana Savoldi, Maurizio Borzumati, Vincenzo Cantaluppi, Fabio Chiappero, Silvana Ungari, Licia Peruzzi, Dario Roccatello, Antonio Amoroso, Silvia Deaglio | |
| Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls | 2021 | Walsh R.; Lahrouchi N.; Tadros R.; Kyndt F.; Glinge C.; Postema P.G.; Amin A.S.; Nannenberg E.A.; Ware J.S.; Whiffin N.; Mazzarotto F.; Skoric-Milosavljevic D.; Krijger C.; Arbelo E.; Babuty D.; Barajas-Martinez H.; Beckmann B.M.; Bezieau S.; Bos J.M.; Breckpot J.; Campuzano O.; Castelletti S.; Celen C.; Clauss S.; Corveleyn A.; Crotti L.; Dagradi F.; de Asmundis C.; Denjoy I.; Dittmann S.; Ellinor P.T.; Ortuno C.G.; Giustetto C.; Gourraud J.-B.; Hazeki D.; Horie M.; Ishikawa T.; Itoh H.; Kaneko Y.; Kanters J.K.; Kimoto H.; Kotta M.-C.; Krapels I.P.C.; Kurabayashi M.; Lazarte J.; Leenhardt A.; Loeys B.L.; Lundin C.; Makiyama T.; Mansourati J.; Martins R.P.; Mazzanti A.; Morner S.; Napolitano C.; Ohkubo K.; Papadakis M.; Rudic B.; Molina M.S.; Sacher F.; Sahin H.; Sarquella-Brugada G.; Sebastiano R.; Sharma S.; Sheppard M.N.; Shimamoto K.; Shoemaker M.B.; Stallmeyer B.; Steinfurt J.; Tanaka Y.; Tester D.J.; Usuda K.; van der Zwaag P.A.; Van Dooren S.; Van Laer L.; Winbo A.; Winkel B.G.; Yamagata K.; Zumhagen S.; Volders P.G.A.; Lubitz S.A.; Antzelevitch C.; Platonov P.G.; Odening K.E.; Roden D.M.; Roberts J.D.; Skinner J.R.; Tfelt-Hansen J.; van den Berg M.P.; Olesen M.S.; Lambiase P.D.; Borggrefe M.; Hayashi K.; Rydberg A.; Nakajima T.; Yoshinaga M.; Saenen J.B.; Kaab S.; Brugada P.; Robyns T.; Giachino D.F.; Ackerman M.J.; Brugada R.; Brugada J.; Gimeno J.R.; Hasdemir C.; Guicheney P.; Priori S.G.; Schulze-Bahr E.; Makita N.; Schwartz P.J.; Shimizu W.; Aiba T.; Schott J.-J.; Redon R.; Ohno S.; Probst V.; Arnaout A.A.; Amelot M.; Anselme F.; Billon O.; Defaye P.; Dupuis J.-M.; Jesel L.; Laurent G.; Maury P.; Pasquie J.-L.; Wiart F.; Behr E.R.; Barc J.; Bezzina C.R. | |
| Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients | 2020 | Giustetto, Carla; Nangeroni, Giulia; Cerrato, Natascia; Rudic, Boris; Tülümen, Erol; Gribaudo, Elena; Giachino, Daniela Francesca; Barbonaglia, Lorella; Biava, Lorenza Michela; Carvalho, Paula; Bergamasco, Laura; Borggrefe, Martin; Gaita, Fiorenzo | |
| NOVEL AND KNOWN MUTATIONS IDENTIFIED BY CLINICAL EXOME SEQUENCING FOR THE DIAGNOSIS OF POLYCYSTIC KIDNEY DISEASE | 2020 | Deaglio, Silvia; Amoroso, Antonio; Roccatello, Dario; Peruzzi, Licia; Gianoglio, Bruno; Viglino, Giusto; Bertinetto, Patrizia; Borzumati, Maurizio; Funaro, Loredana; Santi, Sonia; Maroni, Serena; Strampelli, Emanuela; Biancone, Luigi; Leonardi, Gianluca; Calabrese, Giovanni; Berta, Valentina; Vitale, Corrado; Soragna, Giorgio; Gherzi, Maurizio; Tamagnone, Michela; Fenoglio, Roberta; Rollino, Cristiana; Baldovino, Simone; Cocchi, Enrico; Giachino, Daniela; Pelle, Alessandra; Vanzino, Silvia Bruna; Arruga, Francesca; Bracciamà, Valeria; Kalantari, Silvia; Callegari, Martina; Sorbini, Monica; Vaisitti, Tiziana | |
| Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations | 2020 | Kidd K.; Vylet'al P.; Schaeffer C.; Olinger E.; Zivna M.; Hodanova K.; Robins V.; Johnson E.; Taylor A.; Martin L.; Izzi C.; Jorge S.C.; Calado J.; Torres R.J.; Lhotta K.; Steubl D.; Gale D.P.; Gast C.; Gombos E.; Ainsworth H.C.; Chen Y.M.; Almeida J.R.; de Souza C.F.; Silveira C.; Raposeiro R.; Weller N.; Conlon P.J.; Murray S.L.; Benson K.A.; Cavalleri G.L.; Votruba M.; Vrbacka A.; Amoroso A.; Giachino D.; Caridi G.; Ghiggeri G.M.; Divers J.; Scolari F.; Devuyst O.; Rampoldi L.; Kmoch S.; Bleyer A.J. | |
| USE OF CLINICAL EXOME SEQUENCING IN THE DIAGNOSTIC FLOW OF MONOGENIC KIDNEY DISEASES: THE PIEDMONT EXPERIENCE | 2020 | Deaglio, Silvia; Amoroso, Antonio; Roccatello, Dario; Peruzzi, Licia; Fenoglio, Roberta; Rollino, Cristiana; Baldovino, Simone; Cocchi, Enrico; Giachino, Daniela; Pelle, Alessandra; Vanzino, Silvia Bruna; Arruga, Francesca; Bracciamà, Valeria; Kalantari, Silvia; Callegari, Martina; Sorbini, Monica; Vaisitti, Tiziana | |
| The ILE56 mutation on different genetic backgrounds of alanine: Glyoxylate aminotransferase: Clinical features and biochemical characterization | 2020 | Dindo M.; Mandrile G.; Conter C.; Montone R.; Giachino D.; Pelle A.; Costantini C.; Cellini B. | |
| Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene | 2019 | Monasky M.M.; Micaglio E.; Giachino D.; Ciconte G.; Giannelli L.; Locati E.T.; Ramondini E.; Cotugno R.; Vicedomini G.; Borrelli V.; Ghiroldi A.; Anastasia L.; Pappone C. | |
| Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations | 2019 | Alonso Cárdenas-de-la-Parra, Sandra Martin-Brevet, Clara Moreau , Borja Rodriguez-Herreros , Vladimir S Fonov , Anne M Maillard , Nicole R Zürcher, 16p11.2 European Consortium; Nouchine Hadjikhani 48, Jacques S Beckmann 49, Alexandre Reymond 50, Bogdan Draganski 51, Sébastien Jacquemont 52, D Louis Collins 1; Marie-Claude Addor 7, Joris Andrieux 8, Benoît Arveiler 9, Geneviève Baujatm 10, Frédérique Sloan-Bénan 11, Marco Belfiore, Dominique Bonneau 12, Sonia Bouquillon 13, Odile Boute 14, Alfredo Brusco, Tiffany Busa 16, Jean-Hubert Caberg 17, Dominique Campion 18, Vanessa Colombert 19, Marie-Pierre Cordier 20, Albert David 21, François-Guillaume Debray 22, Marie-Ange Delrue 23, Martine Doco-Fenzy 24, Ulrike Dunkhase-Heinl 25, Patrick Edery 20, Christina Fagerberg 26, Laurence Faivre 27, Francesca Forzano, David Genevieve 29, Marion Gérard 30, Daniela Giachino, Agnès Guichet 32, Olivier Guillin 33, Delphine Héron 34, Bertrand Isidor 21, Aurélia Jacquette 34, Sylvie Jaillard 35, Hubert Journel 19, Boris Keren 36, Didier Lacombe 9, Sébastien Lebon 37, Cédric Le Caignec 38, Marie-Pierre Lemaître 39, James Lespinasse 40, Michèle Mathieu-Dramart 41, Sandra Mercier 21, Cyril Mignot 34, Chantal Missirian 16, Florence Petit 42, Kristina Pilekær Sørensen 26, Lucile Pinson 29, Ghislaine Plessis 30, Fabienne Prieur 43, Caroline Rooryck-Thambo 44, Massimiliano Rossi, Damien Sanlaville 45, Britta Schlott Kristiansen 26, Caroline Schluth-Bolard 45, Marianne Till 20, Mieke Van Haelst 46, Lionel Van Maldergem | |
| The Role of Genetic Factors in Characterizing Extra-Intestinal Manifestations in Crohn's Disease Patients: Are Bayesian Machine Learning Methods Improving Outcome Predictions? | 2019 | Bottigliengo, Daniele; Berchialla, Paola; Lanera, Corrado; Azzolina, Danila; Lorenzoni, Giulia; Martinato, Matteo; Giachino, Daniela; Baldi, Ileana; Gregori, Dario | |
| Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants | 2019 | Middelkamp, Sjors; Vlaar, Judith M; Giltay, Jacques; Korzelius, Jerome; Besselink, Nicolle; Boymans, Sander; Janssen, Roel; de la Fonteijne, Lisanne; van Binsbergen, Ellen; van Roosmalen, Markus J; Hochstenbach, Ron; Giachino, Daniela; Talkowski, Michael E; Kloosterman, Wigard P; Cuppen, Edwin |
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