Pubblicazioni

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

2021 - GENETICS IN MEDICINE

Scott, A.; Di Giosaffatte, N.; Pinna, V.; Daniele, P.; Corno, S.; D'Ambrosio, V.; Andreucci, E.; Marozza, A.; Sirchia, F.; Tortora, G.; Mangiameli, D.; Di Marco, C.; Romagnoli, M.; Donati, I.; Zonta, A.; Grosso, E.; Naretto, V. G.; Mastromoro, G.; Versacci, P.; Pantaleoni, F.; Radio, F. C.; Mazza, T.; Damante, G.; Papi, L.; Mattina, T.; Giancotti, A.; Pizzuti, A.; Laberge, A. -M.; Tartaglia, M.; Delrue, M. -A.; De Luca, A.

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.

STAT4, TRAF3IP2, IL10, and HCP5 Polymorphisms in SjÃ¶gren's Syndrome: Association with Disease Susceptibility and Clinical Aspects

2019 - JOURNAL OF IMMUNOLOGY RESEARCH

Colafrancesco, S.; Ciccacci, C.; Priori, R.; Latini, A.; Picarelli, G.; Arienzo, F.; Novelli, G.; Valesini, G.; Perricone, C.; Borgiani, P.

ERÎ± PvuII and XbaI polymorphisms in postmenopausal women with posterior tibial tendon dysfunction: a case control study

2018 - JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH

Pontin, P A; Nogara, P R B; Fonseca, F C P; Cesar Netto, C; Carvalho, K C; Soares Junior, J M; Baracat, E C; Fernandes, T D; Maffulli, N; Santos, M C L; Godoy-Santos, A L

Polygenic inheritance of cryptorchidism susceptibility in the LE/orl rat

2016 - MOLECULAR HUMAN REPRODUCTION

Barthold, Julia Spencer; Pugarelli, Joan; Macdonald, Madolyn L.; Ren, Jia; Adetunji, Modupeore O.; Polson, Shawn W.; Mateson, Abigail; Wang, Yanping; Sol Church, Katia; Mccahan, Suzanne M.; Akins, Robert E.; Devoto, Marcella; Erobbins, Alan K.

Congenital immunodeficiency in an individual with WiedemannÃ¢ÂÂSteiner syndrome due to a novel missense mutation in KMT2A

2016 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Stellacci, Emilia; Onesimo, Roberta; Bruselles, Alessandro; Pizzi, Simone; Battaglia, Domenica; Leoni, Chiara; Zampino, Giuseppe; Tartaglia, Marco

The PPARÎ³2 P12A polymorphism is not associated with all-cause mortality in patients with type 2 diabetes mellitus

2016 - ENDOCRINE

Pacilli, Antonio; Prudente, Sabrina; Copetti, Massimiliano; Fontana, Andrea; Mercuri, Luana; Bacci, Simonetta; Marucci, Antonella; Alberico, Federica; Viti, Raffaella; Palena, Antonio; Lamacchia, Olga; Cignarelli, Mauro; De Cosmo, Salvatore; Trischitta, Vincenzo

GALNT2 mRNA levels are associated with serum triglycerides in humans

2016 - ENDOCRINE

Marucci, Antonella; Mangiacotti, Davide; Trischitta, Vincenzo; Di Paola, Rosa

Evidence of a causal relationship between high serum adiponectin levels and increased cardiovascular mortality rate in patients with type 2 diabetes

2016 - CARDIOVASCULAR DIABETOLOGY

Ortega Moreno, Lorena; Copetti, Massimiliano; Fontana, Andrea; Bonis, Concetta; Salvemini, Lucia; Trischitta, Vincenzo; Menzaghi, Claudia

Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1

2016 - JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Nuovo, S.; Passeri, M.; Di Benedetto, E.; Calanchini, M.; Meldolesi, I.; Di Giacomo, M. C.; Petruzzi, D.; Piemontese, M. R.; Zelante, L.; Sangiuolo, F.; Novelli, G.; Fabbri, A.; Brancati, F.

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