Pubblicazioni

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.

Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16

2016 - BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY
CASTORI, MARCO; BOTTILLO, IRENE; Morlino, Silvia; BARONE, CHIARA; Cascone, Piero; Grammatico, Paola; Laino, Luigi; Polimeni, Antonella; Pizzuti, Antonio; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo; Sforzolini, Giovanna Scassellati

Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras

2015 - EPILEPSY RESEARCH
Dazzo, Emanuela; Santulli, Lia; Posar, Annio; Fattouch, Jinane; Conti, Sara; Lodén van Straaten, Martin; Mijalkovic, Jona; De Bortoli, Marzia; Rosa, Maurizio; Millino, Caterina; Pacchioni, Beniamina; Di Bonaventura, Carlo; Giallonardo, Anna Teresa; Striano, Salvatore; Striano, Pasquale; Parmeggiani, Antonia; Nobile, Carlo

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

2015 - AMERICAN JOURNAL OF HUMAN GENETICS
Masotti, Andrea; Uva, Paolo; Davis Keppen, Laura; Basel Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno

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