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Number of items: 10.

Arrigoni, Filippo; Romaniello, Romina; Peruzzo, Denis; Poretti, Andrea; Bassi, Maria Teresa; Pierpaoli, Carlo; Valente, Enza Maria; Nuovo, Sara; Boltshauser, Eugen; Huisman, Thierry André Gerard Marie; Triulzi, Fabio; Borgatti, Renato (2019). The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis. European Radiology, 29(2):770-782.

Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D'Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato (2017). Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology, 27(12):5093.

Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D'Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato (2017). Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology, 27(12):5080-5092.

Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-Gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hülya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R; McKanna, Trudy; Van Keirsbilck, Joachim; Moerman, Philippe; Poretti, Andrea; Puri, Ratna; Van Esch, Hilde; Gleeson, Joseph G; Valente, Enza Maria (2016). Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Journal of Medical Genetics, 53(9):608-615.

Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria (2016). Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). European Journal of Human Genetics, 24(9):1262-1267.

Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; Rosti, Rasim O; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S; Swoboda, Kathryn J; Milisa-Drautz, Joanne; Dobyns, William B; Mikati, Mohamed A; İncecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L; D'Arrigo, Stefano; Strømme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A; Freilinger, Michael; Vaux, Keith K; Gabriel, Stacey B; Aza-Blanc, Pedro; Heynen-Genel, Susanne; Ideker, Trey; Dynlacht, Brian D; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; Gleeson, Joseph G (2015). Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLife, 4:e06602.

Poretti, Andrea; Boltshauser, Eugen; Valente, Enza Maria (2014). The molar tooth sign is pathognomonic for Joubert syndrome! Pediatric Neurology, 50(6):e15-e16.

Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; Nickerson, Elizabeth; Elkhartoufi, Nadia; Scott, Eric; Spencer, Emily; Gabriel, Stacey; Thomas, Sophie; Ben-Zeev, Bruria; Bertini, Enrico; Boltshauser, Eugen; Chaouch, Malika; Cilio, Maria Roberta; de Jong, Mirjam M; Kayserili, Hulya; Ogur, Gonul; Poretti, Andrea; Signorini, Sabrina; Uziel, Graziella; Zaki, Maha S; Johnson, Colin; Attié-Bitach, Tania; Gleeson, Joseph G; Valente, Enza Maria (2013). Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics, 21(10):1074-1078.

Lee, Ji Eun; Silhavy, Jennifer L; Zaki, Maha S; Schroth, Jana; Bielas, Stephanie L; Marsh, Sarah E; Olvera, Jesus; Brancati, Francesco; Iannicelli, Miriam; Ikegami, Koji; Schlossman, Andrew M; Merriman, Barry; Attié-Bitach, Tania; Logan, Clare V; Glass, Ian A; Cluckey, Andrew; Louie, Carrie M; Lee, Jeong Ho; Raynes, Hilary R; Rapin, Isabelle; Castroviejo, Ignacio P; Setou, Mitsutoshi; Barbot, Clara; Boltshauser, Eugen; Nelson, Stanley F; Hildebrandt, Friedhelm; Johnson, Colin A; Doherty, Daniel A; Valente, Enza Maria; Gleeson, Joseph G (2012). CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics, 44(2):193-199.

Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C M; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca; Giordano, Lucio; Huisman, Thierry A G M; Iannicelli, Miriam; Kluger, Gerhard; Kyllerman, Marten; Landgren, Magnus; Lees, Melissa M; Pinelli, Lorenzo; Romaniello, Romina; Scheer, Ianina; Schwarz, Christoph E; Spiegel, Ronen; Tibussek, Daniel; Valente, Enza Maria; Boltshauser, Eugen (2012). Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet Journal of Rare Diseases, 7:4.

This list was generated on Sun Mar 24 00:38:25 2019 CET.