Pubblicazioni

Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia. Results of the Italian Primary Immunodeficiency Network

2022 - JOURNAL OF CLINICAL IMMUNOLOGY
Cirillo, E.; Polizzi, A.; Soresina, A.; Prencipe, R.; Giardino, G.; Cancrini, C.; Finocchi, A.; Rivalta, B.; Dellepiane, R. M.; Baselli, L. A.; Montin, D.; Trizzino, A.; Consolini, R.; Azzari, C.; Ricci, S.; Lodi, L.; Quinti, I.; Milito, C.; Leonardi, L.; Duse, M.; Carrabba, M.; Fabio, G.; Bertolini, P.; Coccia, P.; D'Alba, I.; Pession, A.; Conti, F.; Zecca, M.; Lunardi, C.; Bianco, M. L.; Presti, S.; Sciuto, L.; Micheli, R.; Bruzzese, D.; Lougaris, V.; Badolato, R.; Plebani, A.; Chessa, L.; Pignata, C.

Time moderates the interplay between 5-HTTLPR and stress on depression risk: gene x environment interaction as a dynamic process

2022 - TRANSLATIONAL PSYCHIATRY
Delli Colli, Claudia; Borgi, Marta; Poggini, Silvia; Chiarotti, Flavia; Cirulli, Francesca; Penninx, Brenda W J H; Benedetti, Francesco; Vai, Benedetta; Branchi, Igor

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

2021 - NATURE COMMUNICATIONS
Coignard, J.; Lush, M.; Beesley, J.; O'Mara, T. A.; Dennis, J.; Tyrer, J. P.; Barnes, D. R.; McGuffog, L.; Leslie, G.; Bolla, M. K.; Adank, M. A.; Agata, S.; Ahearn, T.; Aittomaki, K.; Andrulis, I. L.; Anton-Culver, H.; Arndt, V.; Arnold, N.; Aronson, K. J.; Arun, B. K.; Augustinsson, A.; Azzollini, J.; Barrowdale, D.; Baynes, C.; Becher, H.; Bermisheva, M.; Bernstein, L.; Bialkowska, K.; Blomqvist, C.; Bojesen, S. E.; Bonanni, B.; Borg, A.; Brauch, H.; Brenner, H.; Burwinkel, B.; Buys, S. S.; Caldes, T.; Caligo, M. A.; Campa, D.; Carter, B. D.; Castelao, J. E.; Chang-Claude, J.; Chanock, S. J.; Chung, W. K.; Claes, K. B. M.; Clarke, C. L.; Bertrand, O.; Caputo, S.; Dupre, A.; Le Mentec, M.; Belotti, M.; Birot, A. -M.; Buecher, B.; Fourme, E.; Gauthier-Villars, M.; Golmard, L.; Houdayer, C.; Moncoutier, V.; de Pauw, A.; Saule, C.; Sinilnikova, O.; Mazoyer, S.; Damiola, F.; Barjhoux, L.; Verny-Pierre, C.; Leone, M.; Boutry-Kryza, N.; Calender, A.; Giraud, S.; Caron, O.; Guillaud-Bataille, M.; Bressac-de-Paillerets, B.; Bignon, Y. -J.; Uhrhammer, N.; Lasset, C.; Bonadona, V.; Berthet, P.; Vaur, D.; Castera, L.; Noguchi, T.; Popovici, C.; Sobol, H.; Bourdon, V.; Noguchi, T.; Remenieras, A.; Nogues, C.; Coupier, I.; Pujol, P.; Dumont, A.; Revillion, F.; Adenis, C.; Muller, D.; Barouk-Simonet, E.; Bonnet, F.; Bubien, V.; Sevenet, N.; Longy, M.; Toulas, C.; Guimbaud, R.; Gladieff, L.; Feillel, V.; Leroux, D.; Dreyfus, H.; Rebischung, C.; Peysselon, M.; Coron, F.; Faivre, L.; Baurand, A.; Jacquot, C.; Bertolone, G.; Lizard, S.; Prieur, F.; Lebrun, M.; Kientz, C.; Ferrer, S. F.; Mari, V.; Venat-Bouvet, L.; Delnatte, C.; Bezieau, S.; Mortemousque, I.; Coulet, F.; Colas, C.; Soubrier, F.; Warcoin, M.; Sokolowska, J.; Bronner, M.; Collonge-Rame, M. -A.; Damette, A.; Gesta, P.; Lallaoui, H.; Chiesa, J.; Molina-Gomes, D.; Ingster, O.; Gregory, H.; Miedzybrodzka, Z.; Morrison, P. J.; Ong, K. -R.; Donaldson, A.; Rogers, M. T.; Kennedy, M. J.; Porteous, M. E.; Brewer, C.; Davidson, R.; Izatt, L.; Brady, A.; Barwell, J.; Adlard, J.; Foo, C.; Lalloo, F.; Side, L. E.; Eason, J.; Henderson, A.; Walker, L.; Eeles, R. A.; Cook, J.; Snape, K.; Eccles, D.; Murray, A.; McCann, E.; Collee, J. M.; Conroy, D. M.; Czene, K.; Daly, M. B.; Devilee, P.; Diez, O.; Ding, Y. C.; Domchek, S. M.; Dork, T.; dos-Santos-Silva, I.; Dunning, A. M.; Dwek, M.; Eccles, D. M.; Eliassen, A. H.; Engel, C.; Eriksson, M.; Evans, D. G.; Fasching, P. A.; Flyger, H.; Fostira, F.; Friedman, E.; Fritschi, L.; Frost, D.; Gago-Dominguez, M.; Gapstur, S. M.; Garber, J.; Garcia-Barberan, V.; Garcia-Closas, M.; Garcia-Saenz, J. A.; Gaudet, M. M.; Gayther, S. A.; Gehrig, A.; Georgoulias, V.; Giles, G. G.; Godwin, A. K.; Goldberg, M. S.; Goldgar, D. E.; Gonzalez-Neira, A.; Greene, M. H.; Guenel, P.; Haeberle, L.; Hahnen, E.; Haiman, C. A.; Hakansson, N.; Hall, P.; Hamann, U.; Harrington, P. A.; Hart, S. N.; He, W.; Hogervorst, F. B. L.; Hollestelle, A.; Hopper, J. L.; Horcasitas, D. J.; Hulick, P. J.; Hunter, D. J.; Imyanitov, E. N.; Fox, S.; Campbell, I.; Spurdle, A.; Webb, P.; de Fazio, A.; Tassell, M.; Kirk, J.; Lindeman, G.; Price, M.; Southey, M.; Milne, R.; Deb, S.; Bowtell, D.; van der Hout, A. H.; van den Ouweland, A. M. W.; Mensenkamp, A. R.; van Deurzen, C. H. M.; Kets, C. M.; Seynaeve, C.; van Asperen, C. J.; Aalfs, C. M.; Gomez Garcia, E. B.; van Leeuwen, F. E.; de Bock, G. H.; Meijers-Heijboer, H. E. J.; Obdeijn, I. M.; Collee, J. M.; Gille, J. J. P.; Oosterwijk, J. C.; Wijnen, J. T.; van der Kolk, L. E.; Hooning, M. J.; Ausems, M. G. E. M.; Mourits, M. J. E.; Blok, M. J.; Rookus, M. A.; Adank, M. A.; van der Luijt, R. B.; van Cronenburg, T. C. T. E. F.; van der Pol, C. C.; Russell, N. S.; Siesling, S.; Overbeek, L.; Wijnands, R.; de Lange, J. L.; Clarke, C.; Graham, D.; Sachchithananthan, M.; Marsh, D.; Scott, R.; Baxter, R.; Yip, D.; Carpenter, J.; Davis, A.; Pathmanathan, N.; Simpson, P.; Jager, A.; Jakubowska, A.; James, P. A.; Jensen, U. B.; John, E. M.; Jones, M. E.; K

Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: Results of a multicentric study

2021 - JOURNAL OF MEDICAL GENETICS
Nuovo, S.; Micalizzi, A.; Romaniello, R.; Arrigoni, F.; Ginevrino, M.; Casella, A.; Serpieri, V.; D'Arrigo, S.; Briguglio, M.; Salerno, G. G.; Rossato, S.; Sartori, S.; Leuzzi, V.; Battini, R.; Ben-Zeev, B.; Graziano, C.; Mirabelli Badenier, M.; Brankovic, V.; Nardocci, N.; Spiegel, R.; Petkovic RamadAa, D.; Vento, G.; Marti, I.; Simonati, A.; Dipresa, S.; Freri, E.; Mazza, T.; Bassi, M. T.; Bosco, L.; Travaglini, L.; Zanni, G.; Bertini, E. S.; Vanacore, N.; Borgatti, R.; Valente, E. M.

First core microsatellite panel identification in Apennine brown bears (Ursus arctos marsicanus): a collaborative approach

2021 - BMC GENOMICS
Scarpulla, E.; Boattini, A.; Cozzo, M.; Giangregorio, P.; Ciucci, P.; Mucci, N.; Randi, E.; Davoli, F.

Repetitive and inflexible active coping and addiction-like neuroplasticity in stressed mice of a helplessness-resistant inbred strain

2021 - BEHAVIORAL SCIENCES
Cabib, S.; Campus, P.; Latagliata, E. C.; Orsini, C.; Tarmati, V.

Directly acting antivirals are safe and effective in HCV positive patients aged 80 years and older: a multicenter real-life study

2021 - EXPERT OPINION ON DRUG SAFETY
Pugliese, N.; Giorgini, A.; Maggi, D.; Capogreco, A.; Dibenedetto, C.; Lubrano Lobianco, F.; Dal Buono, A.; Monico, S.; Meli, R.; Battezzati, P. M.; Lleo, A.; De Santis, A.; Zuin, M.; Aghemo, A.

Two new RHD alleles with deletions spanning multiple exons

2021 - TRANSFUSION
Matteocci, A; Monge-Ruiz, J; Stef, M; Apraiz, ; I., Herrera-del-Val L; Mancuso, T; Fennell, K; Lopez, M; Larizgoitia-Martin, Y; Nespoli, G; Rubia-Tejero, M; Collaretti, A; Pierelli, L; Ochoa-Garay, G.

Roussy-Lévy Syndrome: a case of genotype-fenotype correlation

2021 - NEUROLOGICAL SCIENCES
Cioffi, E; Gioiosa, Valeria; Serrao, Mariano; Casali, Carlo

Investigating the genetic structure of the parasites Anisakis pegreffii and A. berlandi (Nematoda: Anisakidae) in a sympatric area of the southern Pacific Ocean waters using a multilocus genotyping approach: first evidence of their interspecific hybridization

2021 - INFECTION GENETICS AND EVOLUTION
Bello, E.; Palomba, M.; Webb, S. C.; Paoletti, M.; Cipriani, P.; Nascetti, G.; Mattiucci, S.

The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry

2021 - DIAGNOSTICS
Padoan, Rita; Quattrucci, Serena; Amato, Annalisa; Carnovale, Vincenzo; Salvatore, Donatello; Salvatore, Marco; Campagna, Giuseppe

HbS/β+ thalassemia: really a mild disease? A National survey from the AIEOP Sickle Cell Disease Study Group with genotype-phenotype correlation

2020 - EUROPEAN JOURNAL OF HAEMATOLOGY
Notarangelo, Ld; Agostini, A; Casale, M; Samperi, P; Arcioni, F; Gorello, P; Perrotta, S; Masera, N; Barone, A; Bertoni, E; Bonetti, E; Burnelli, R; Casini, T; Del Vecchio, Gc; Filippini, B; Giona, F; Giordano, P; Gorio, C; Marchina, E; Nardi, M; Petrone, A; Colombatti, R; Sainati, L; Russo,

Emotion regulation, temperament and parent-child interactions are associated with dopamine transporter allelic polymorphism in early childhood: a pilot study

2020 - INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
Cimino, Silvia; Marzilli, Eleonora; Tafa', Mimma; Cerniglia, Luca

Emotional-Behavioral Regulation, Temperament and Parent–Child Interactions Are Associated with Dopamine Transporter Allelic Polymorphism in Early Childhood: A Pilot Study

2020 - INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
Cimino, Silvia; Marzilli, Eleonora; Tafa', Mimma; Cerniglia, Luca

Interpretation of the epigenetic signature of facioscapulohumeral muscular dystrophy in light of genotype-phenotype studies

2020 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Nikolic, A.; Jones, T. I.; Govi, M.; Mele, F.; Maranda, L.; Sera, F.; Ricci, G.; Ruggiero, L.; Vercelli, L.; Portaro, S.; Villa, L.; Fiorillo, C.; Maggi, L.; Santoro, L.; Antonini, G.; Filosto, M.; Moggio, M.; Angelini, C.; Pegoraro, E.; Berardinelli, A.; Maioli, M. A.; D'Angelo, G.; Di Muzio, A.; Siciliano, G.; Tomelleri, G.; D'Esposito, M.; Ragione, F. D.; Brancaccio, A.; Piras, R.; Rodolico, C.; Mongini, T.; Magdinier, F.; Salsi, V.; Jones, P. L.; Tupler, R.

Association of rs12487066, rs12044852, rs10735781, rs3135388, rs6897932, rs1321172, rs10492972, and rs9657904 Polymorphisms with Multiple Sclerosis in Iranian Population

2020 - OMAN MEDICAL JOURNAL
Razavian, Takavar; Ebrahimi Shakib, Mahdieh; Gharagozli, Kurosh; Maghsoudi, Hossein; Kazem Bidoki, Seyed; Sadeghi, Soha; Houshmand, Massoud

Children’s DAT1 polymorphism moderates the relationship between parents’ psychological profiles, children’s DAT methylation, and their emotional/behavioral functioning in a normative sample

2019 - INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
Cimino, Silvia; Cerniglia, Luca; Ballarotto, Giulia; Marzilli, Eleonora; Pascale, Esterina; D'Addario, Claudio; Adriani, Walter; Giovanni Icro Maremmani, Angelo; Tambelli, Renata

In silico karyotyping of chromosomally polymorphic malaria mosquitoes in the Anopheles gambiae complex

2019 - G3
Love, R. R.; Redmond, S. N.; Pombi, M.; Caputo, B.; Petrarca, V.; Della Torre, A.; The Anopheles gambiae1000 Genomes, Consortium; Besansky, N. J.

Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania

2019 - NATURE COMMUNICATIONS
Band, Gavin; Si Le, Quang; M Clarke, Geraldine; Kivinen, Katja; Hubbart, Christina; E Jeffreys, Anna; Rowlands, Kate; M Leffler, Ellen; Jallow, Muminatou; J Conway, David; Sisay-Joof, Fatoumatta; Sirugo, Giorgio; d'Alessandro, Umberto; B Toure, Ousmane; A Thera, Mahamadou; Konate, Salimata; Sissoko, Sibiri; Mangano, Valentina; C Bougouma, Edith; B Sirima, Sodiomon; N Amenga-Etego, Lucas; K Ghansah, Anita; O Hodgson, Abraham V; D Wilson, Michael; Enimil, Anthony; Ansong, Daniel; Evans, Jennifer; A Ademola, Subulade; O Apinjoh, Tobias; M Ndila, Carolyne; Manjurano, Alphaxard; Drakeley, Chris; Reyburn, Hugh; Hoan Phu, Nguyen; Thi Ngoc Quyen, Nguyen; Quang Thai, Cao; Tinh Hien, Tran; Ying Teo, Yik; Manning, Laurens; Laman, Moses; Michon, Pascal; Karunajeewa, Harin; Siba, Peter; Allen, Steve; Allen, Angela; Bahlo, Melanie; E Davis, Timothy M; Simpson, Victoria; Shelton, Jennifer; A Spencer, Chris C; J Busby, George B; Kerasidou, Angeliki; Drury, Eleanor; Stalker, Jim; Dilthey, Alexander; J Mentzer, Alexander; McVean, Gil; A Bojang, Kalifa; Doumbo, Ogobara; Modiano, David; A Koram, Kwadwo; Agbenyega, Tsiri; K Amodu, Olukemi; Achidi, Eric; N Williams, Thomas; Marsh, Kevin; M Riley, Eleanor; Molyneux, Malcolm; Taylor, Terrie; J Dunstan, Sarah; Farrar, Jeremy; Mueller, Ivo; A Rockett, Kirk; P Kwiatkowski, Dominic

Serum hepatitis B core-related antigen (HBcrAg) correlates with covalently closed circular DNA transcriptional activity in chronic hepatitis B patients

2019 - journal of Hepatology
Testoni, B.; Lebosse, F.; Scholtes, C.; Berby, F.; Miaglia, C.; Subic, M.; Loglio, A.; Facchetti, F.; Lampertico, P.; Levrero, M.; Zoulim, F.

Add-on peginterferon alfa-2a to nucleos(t)ide analogue therapy for caucasian patients with hepatitis B ‘e’ antigen-negative chronic hepatitis B genotype D

2019 - JOURNAL OF VIRAL HEPATITIS
Lampertico, P.; Brunetto, M. R.; Craxi, A.; Gaeta, G. B.; Rizzetto, M.; Rozzi, A.; Colombo, M.; Antonio, D.; Andreone, P.; Antonio, D.; Brancaccio, G.; Bronte, F.; Bruzzone, L.; Caccamo, G.; Caccianotti, B.; Calvaruso, V.; Chessa, L.; Ciarallo, M.; Coco, B.; Colombatto, P.; Cursaro, C.; D'Aluisio, D.; Demelia, L.; Di Marco, V.; Dissegna, D.; Invernizzi, F.; Lenisa, I.; Lembo, T.; Levrero, M.; Marchese, V.; Mangia, G.; Picciotto, A.; Pierconti, S.; Antonio, D.; Raimondo, G.; Rastelli, C.; Rizzo, V.; Santantonio, T.; Scuteri, A.; Sorbello, O.; Squadrito, G.; Subic, M.; Toniutto, P.; Vukotic, R.

TNFAIP3 gene polymorphisms in three common autoimmune diseases: Systemic lupus erythematosus, rheumatoid arthritis, and primary sjogren syndrome - association with disease susceptibility and clinical phenotypes in Italian patients

2019 - JOURNAL OF IMMUNOLOGY RESEARCH
Ciccacci, C.; Latini, A.; Perricone, C.; Conigliaro, P.; Colafrancesco, S.; Ceccarelli, F.; Priori, R.; Conti, F.; Perricone, R.; Novelli, G.; Borgiani, P.

Epicardial fat: the role of testosterone and lipid metabolism in a cohort of patients with Klinefelter syndrome

2019 - METABOLISM, CLINICAL AND EXPERIMENTAL
Granato, S.; Barbaro, G.; Di Giorgio, M. R.; Rossi, F. M.; Marzano, C.; Impronta, F.; Spaziani, M.; Anzuini, A.; Lenzi, A.; Radicioni, A. F.

Characteristics of a nationwide cohort of patients presenting with Isolated Hypogonadotropic Hypogonadism (IHH)

2018 - EUROPEAN JOURNAL OF ENDOCRINOLOGY
Bonomi, Marco; Vezzoli, Valeria; Krausz, Csilla Gabriella; Guizzardi, Fabiana; Vezzani, Silvia; Simoni, Manuela; Bassi, Ivan; Duminuco, Paolo; Di Iorgi, Natascia; Giavoli, Claudia; Pizzoccaro, Alessandro; Russo, Gianni; Moro, Mirella; Fatti, Letizia Maria; Ferlin, Alberto; Mazzanti, Laura; Zatelli, Maria Chiara; Cannavò, Salvatore; Isidori, Andrea M; Pincelli, Angela I; Prodam, Flavia; Mancini, Antonio; Limone, Paolo; Tanda, Maria Laura; Gaudino, Rossella; Salerno, Mariacarolina; Pregnolato, Francesca; Maghnie, Mohammad; Maggi, Mario; Persani, Luca; Aimaretti, G; Altobelli, M; Ambrosio, Mr; Andrioli, M; Angeletti, G; Arecco, F; Arnaldi, G; Arosio, M; Balsamo, A; Baldassarri, M; Bartalena, L; Bazzoni, N; Beccaria, L; Beck-Peccoz, P; Bellastella, G; Bellizzi, M; Benedicenti, F; Bernasconi, S; Bizzarri, C; Bona, G; Bonadonna, S; Borretta, G; Boschetti, M; Brunani, A; Brunelli, V; Buzi, F; Cacciatore, C; Cangiano, B; Cappa, M; Casalone, R; Cassio, A; Cavarzere, P; Cherubini, V; Ciampani, T; Cicognani, D; Cignarelli, A; Cisternino, M; Colombo, P; Corbetta, S; Corciulo, N; Corona, G; Cozzi, R; Crivellaro, C; Dalle Mule, I; Danesi, L; D'Elia, Av; Degli Uberti, E; De Leo, S; Della Valle, E; De Marchi, M; Di Iorgi, N; Di Mambro, A; Fabbri, A; Foresta, C; Forti, G; Franceschi, Ar; Garolla, A; Ghezzi, M; Giacomozzi, C; Giusti, M; Grosso, E; Guabello, G; Guarneri, Mp; Grugni, G; Isidori, Am; Lanfranco, F; Lania, A; Lanzi, R; Larizza, L; Lenzi, A; Loche, S; Loli, P; Lombardi, V; Maggio, Mc; Mandrile, G; Manieri, C; Mantovani, G; Marelli, S; Marzullo, M; Mencarelli, Ma; Migone, N; Motta, G; Neri, G; Padova, G; Parenti, G; Pasquino, B; Pia, A; Piantanida, E; Pignatti, E; Pilotta, A; Pivetta, B; Pollazzon, M; Pontecorvi, A; Porcelli, P; Pozzan, Gb; Pozzobon, G; Radetti, G; Razzore, P; Rocchetti, L; Roncoroni, R; Rossi, G; Sala, E; Salvatoni, A; Salvini, F; Secco, A; Segni, M; Selice, R; Sgaramella, P; Sileo, F; Sinisi, Aa; Sirchia, F; Spada, A; Tresoldi, A; Vigneri, R; Weber, G; Zucchini, S.

DNA methylation at the DAT promoter and risk for psychopathology. Intergenerational transmission between school-age youths and their parents in a community sample

2018 - FRONTIERS IN PSYCHIATRY
Cimino, Silvia; Cerniglia, Luca; Ballarotto, Giulia; Marzilli, Eleonora; Pascale, Esterina; D'Addario, Claudio; Adriani, Walter; Tambelli, Renata

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