Pubblicazioni

Age and sex prevalence estimate of Joubert syndrome in Italy

2020 - NEUROLOGY

Nuovo, S.; Bacigalupo, I.; Ginevrino, M.; Battini, R.; Bertini, E.; Borgatti, R.; Casella, A.; Micalizzi, A.; Nardella, M.; Romaniello, R.; Serpieri, V.; Zanni, G.; Valente, E. M.; Vanacore, N.

Healthcare recommendations for Joubert syndrome

2020 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Bachmann-Gagescu, R.; Dempsey, J. C.; Bulgheroni, S.; Chen, M. L.; D'Arrigo, S.; Glass, I. A.; Heller, T.; Heon, E.; Hildebrandt, F.; Joshi, N.; Knutzen, D.; Kroes, H. Y.; Mack, S. H.; Nuovo, S.; Parisi, M. A.; Snow, J.; Summers, A. C.; Symons, J. M.; Zein, W. M.; Boltshauser, E.; Sayer, J. A.; Gunay-Aygun, M.; Valente, E. M.; Doherty, D.

Anomalous Origin of Left Common Carotid Artery from Left Pulmonary Artery in a 22q11.2 Deletion Syndrome Newborn with Right Aortic Arch and Aberrant Left Subclavian Artery

2020 - CIRCULATION. CARDIOVASCULAR IMAGING

Vignaroli, W.; Curione, D.; Perri, G.; Secinaro, A.; Filippelli, S.; Iorio, F. S.

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement

2018 - EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Pascolini, Giulia; Agolini, Emanuele; Majore, Silvia; Novelli, Antonio; Grammatico, Paola; Digilio, Maria Cristina

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

2017 - AMERICAN JOURNAL OF HUMAN GENETICS

De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B; Mazza, Tommaso; Gleeson, Joseph G; Valente, ENZA MARIA

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

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies

2015 - GENOME RESEARCH

Borck, Guntram; HÃ¶g, Friederike; Dentici, MARIA LISA; Tan, Perciliz L.; Sowada, Nadine; Medeira, Ana; Gueneau, Lucie; Thiele, Holger; Kousi, Maria; Lepri, Francesca; Wenzeck, Larissa; Blumenthal, Ian; Radicioni, Antonio; Schwarzenberg, Tito Livio; Mandriani, Barbara; Fischetto, Rita; Morris Rosendahl, Deborah J.; AltmÃ¼ller, Janine; Reymond, Alexandre; NÃ¼rnberg, Peter; Merla, Giuseppe; Dallapiccola, Bruno; Katsanis, Nicholas; Cramer, Patrick; Kubisch, Christian

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