Pubblicazioni

Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations

2019 - HUMAN MUTATION

Fusco, C; Copetti, M; Mazza, T; Amoruso, L; Mastoianno, S; Nardella, G; Guarnieri, V; Micale, L; D'Agruma, L; Castori, M.

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway

2019 - EUROPEAN JOURNAL OF HUMAN GENETICS

Palumbo, P; Petracca, A; Maggi, R; Biagini, T; Nardella, G; Sacco, Mc; Di Schiavi, E; Carella, M; Micale, L; Castori, M.

Regulation of kit expression in early mouse embryos and ES cells

2019 - STEM CELLS

Todaro, F.; Campolo, F.; Barrios, F.; Pellegrini, M.; Di Cesare, S.; Tessarollo, L.; Rossi, P.; Jannini, E. A.; Dolci, S.

Osteoarchaeology and the history of medicine in our experience

2019 - ACTA BIO-MEDICA DE L'ATENEO PARMENSE

Iorio, S.; Badino, P.; Gorini, I.; Aliverti, M.

Anatomical, histomorphological and molecular classification of cholangiocarcinoma

2019 - LIVER INTERNATIONAL

Kendall, T.; Verheij, J.; Gaudio, E.; Evert, M.; Guido, M.; Goeppert, B.; Carpino, G.

Molecular biomarkers predicting early development of endometrial carcinoma: a pilot study

2019 - EUROPEAN JOURNAL OF CANCER CARE

Lupini, L.; Scutiero, G.; Iannone, P.; Martinello, R.; Bassi, C.; Ravaioli, N.; Soave, I.; Bonaccorsi, G.; Lanza, G.; Gafa, R.; Loizzi, V.; Negrini, M.; Greco, P.

Value-based genomic screening. Exploring genomic screening for chronic diseases using triple value principles

2019 - BMC HEALTH SERVICES RESEARCH

Dombradi, V.; Pitini, E.; Van El, C. G.; Jani, A.; Cornel, M.; Villari, P.; Gray, M.; Biro, K.

A new mutation in NTRK1 gene is associated with congenital insensitivity to pain without anhidrosis

2019 - META GENE

Hajiesmaeil, Mogge; Yazarlou, Fatemeh; Sobhani, Maryam; Ghafouri-Fard, Soudeh

A de novo KCNQ2 gene mutation associated with non-familial early onset seizures: Case report and revision of literature data

2019 - FRONTIERS IN PEDIATRICS

Laccetta, G.; Fiori, S.; Giampietri, M.; Ferrari, A.; Cetica, V.; Bernardini, M.; Chesi, F.; Mazzotti, S.; Parrini, E.; Ciantelli, M.; Guzzetta, A.; Ghirri, P.

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

2019 - CEREBELLUM

Ciaccio, C.; Castello, R.; Esposito, S.; Pinelli, M.; Nigro, V.; Casari, G.; Chiapparini, L.; Pantaleoni, C.; Torella, A.; Cappuccio, G.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Parenti, G.; Capra, V.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Brunetti-Pierri, N.; Banfi, S.; Zollino, M.; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.; D'Arrigo, S.

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

2019 - MOVEMENT DISORDERS

Carecchio, M.; Invernizzi, F.; Gonzalez-Latapi, P.; Panteghini, C.; Zorzi, G.; Romito, L.; Leuzzi, V.; Galosi, S.; Reale, C.; Zibordi, F.; Joseph, A. P.; Topf, M.; Piano, C.; Bentivoglio, A. R.; Girotti, F.; Morana, P.; Morana, B.; Kurian, M. A.; Garavaglia, B.; Mencacci, N. E.; Lubbe, S. J.; Nardocci, N.

Kif1c variants are associated with hypomyelination, ataxia, tremor, and dystonia in fraternal twins

2019 - TREMOR AND OTHER HYPERKINETIC MOVEMENTS

Marchionni, E.; Meneret, A.; Keren, B.; Melki, J.; Denier, C.; Durr, A.; Apartis, E.; Boespflug-Tanguy, O.; Mochel, F.

Effects of KEAP1 Silencing on the Regulation of NRF2 Activity in Neuroendocrine Lung Tumors

2019 - INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Sparaneo, A; Fabrizio, Fp; la Torre, A; Graziano, P; Di Maio, M; Fontana, A; Bisceglia, M; Rossi, A; Pizzolitto, S; De Maglio, G; Tancredi, A; Grimaldi, F; Balsamo, T; Centra, F; Manzorra, Mc; Trombetta, D; Pantalone, A; Bonfitto, A; Maiello, E; Fazio, Vm; Muscarella, La