학술논문

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies
Document Type
Article
Author
Iannicelli, M.Brancati, F.Mazzotta, A.Travaglini, L.Valente, E.M.Mougou-Zerelli, S.Thomas, S.Gomes, C.Attie-Bitach, T.Elkhartoufi, N.Ardissino, G.L.Castorina, P.Gentilin, B.Lalatta, F.Bertini, E.Dallapiccola, B.Boltshauser, E.D'Arrigo, S.Pantaleoni, C.Fischetto, R.Leroy, B.Loget, P.Bonnière, M.Starck, L.Tantau, J.Majore, S.Grammatico, P.Swistun, D.Gleeson, J.G.Flori, E.Penzien, J.Ali Pacha, L.Tazir, M.Zankl, A.Leventer, R.Grattan-Smith, P.Janecke, A.D'Hooghe, M.Sznajer, Y.Van Coster, R.Demerleir, L.Dias, K.Moco, C.Moreira, A.Ae Kim, C.Maegawa, G.Loncarevic, D.Mejaski-Bosnjak, V.Petkovic, D.Abdel-Salam, G.M.H.Abdel-Aleem, A.Zaki, M.S.Marti, I.Quijano-Roy, S.Sigaudy, S.De Lonlay, P.Romano, S.Verloes, A.Touraine, R.Koenig, M.Lagier-Tourenne, C.Messer, J.Collignon, P.Wolf, N.Philippi, H.Lemke, J.Dacou-Voutetakis, C.Kitsiou Tzeli, S.Pons, R.Sztriha, L.Halldorsson, S.Johannsdottir, J.Ludvigsson, P.Phadke, S.R.Udani, V.Stuart, B.Magee, A.Lev, D.Michelson, M.Ben-Zeev, B.Di Giacomo, M.Gentile, M.Guanti, G.D'Addato, O.Papadia, F.Spano, M.Bernardi, F.Seri, M.Benedicenti, F.Stanzial, F.Borgatti, R.Accorsi, P.Battaglia, S.Fazzi, E.Giordano, L.Izzi, C.Pinelli, L.Boccone, L.Guanciali, P.Romoli, R.Bigoni, S.Ferlini, A.Andreucci, E.Donati, M.A.Genuardi, M.Caridi, G.Divizia, M.T.Faravelli, F.Ghiggeri, G.Pessagno, A.Amorini, M.Briguglio, M.Briuglia, S.Rigoli, L.Salpietro, C.Tortorella, G.Adami, A.Marra, G.Riva, D.Scelsa, B.Spaccini, L.Uziel, G.Coppola, G.Del Giudice, E.Vitiello, G.Laverda, A.M.Ludwig, K.Permunian, A.Suppiej, A.Macaluso, C.Signorini, S.Uggetti, C.Battini, R.Di Giacomo, M.Priolo, M.Cilio, M.R.D'Amico, A.Di Sabato, M.L.Emma, F.Leuzzi, V.Parisi, P.Stringini, G.Zanni, G.Pollazzon, M.Renieri, A.Vascotto, M.Silengo, M.De Vescovi, R.Greco, D.Romano, C.Cazzagon, M.Simonati, A.Al-Tawari, A.A.Bastaki, L.Mégarbané, A.Matuleviciene, A.Sabolic Avramovska, V.Said, E.De Jong, M.M.Prescott, T.Stromme, P.Von Der Lippe, C.Koul, R.Rajab, A.Azam, M.Barbot, C.Jocic-Jakubi, B.Gener Querol, B.Martorell Sampol, L.Rodriguez, B.Pascual-Castroviejo, I.Strozzi, S.Fluss, J.Teber M, S.TopcuAnlar, B.Comu, S.Karaca, E.Kayserili, H.Yüksel, A.Akgul, M.Akcakus, M.Al Gazali, L.Nicholl, D.Woods, C.G.Bennett, C.Hurst, J.Sheridan, E.Barnicoat, A.Carr, L.Hennekam, R.Lees, M.McKay, F.Yates, L.Blair, E.Bernes, S.Sanchez, H.Clark, A.E.DeMarco, E.Donahue, C.Sherr, E.Hahn, J.Sanger, T.D.Gallager, T.E.Dobyns, W.B.Daugherty, C.Krishnamoorthy, K.S.Sarco, D.Walsh, C.A.McKanna, T.Milisa, J.Chung, W.K.De Vivo, D.C.Raynes, H.Schubert, R.Seward, A.Brooks, D.G.Goldstein, A.Caldwell, J.Finsecke, E.Maria, B.L.Holden, K.Cruse, R.P.Swoboda, K.J.Viskochil, D.
Source
In: Human Mutation. (Human Mutation, May 2010, 31(5):E1319-E1331)
Subject
Language
English
ISSN
10597794
10981004