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Number of items: 7.

Martinelli, D; Häberle, J; Rubio, V; Giunta, C; Hausser, I; Carrozzo, R; Gougeard, N; Marco-Marín, C; Goffredo, B M; Meschini, M C; Bevivino, E; Boenzi, S; Colafati, G S; Brancati, F; Baumgartner, M R; Dionisi-Vici, C (2012). Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. Journal of Inherited Metabolic Disease, 35(5):761-776.

Valente, E M; Brancati, F; Boltshauser, E; Dallapiccola, B (2011). Clinical utility gene card for: Joubert syndrome. European Journal of Human Genetics, 19(9):online.

Valente, E M; Logan, C V; Mougou-Zerelli, S; Lee, J H; Silhavy, J L; Brancati, F; Iannicelli, M; Travaglini, L; Romani, S; Illi, B; Adams, M; Szymanska, K; Mazzotta, A; Lee, J E; Tolentino, J C; Swistun, D; Salpietro, C D; Fede, C; Gabriel, S; Russ, C; Cibulskis, K; Sougnez, C; Hildebrandt, F; Otto, E A; Held, S; Diplas, B H; Davis, E E; Mikula, M; Strom, C M; Ben-Zeev, B; Lev, D; Sagie, T L; Michelson, M; Yaron, Y; Krause, A; Boltshauser, E; Elkhartoufi, N; Roume, J; Shalev, S; Munnich, A; Saunier, S; Inglehearn, C; Saad, A; Alkindy, A; Thomas, S; Vekemans, M; Dallapiccola, B; Katsanis, N; Johnson, C A; Attié-Bitach, T; Gleeson, J G (2010). Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nature Genetics, 42(7):619-625.

Iannicelli, M; Brancati, F; Mougou-Zerelli, S; Mazzotta, A; Thomas, S; Elkhartoufi, N; Travaglini, L; Gomes, C; Ardissino, G L; Bertini, E; Boltshauser, E; Castorina, P; D'Arrigo, S; Fischetto, R; Leroy, B; Loget, P; Bonnière, M; Starck, L; Tantau, J; Gentilin, B; Majore, S; Swistun, D; Flori, E; Lalatta, F; Pantaleoni, C; Penzien, J; Grammatico, P; Dallapiccola, B; Gleeson, J G; Attie-Bitach, T; Valente, E M (2010). Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Human Mutation, 31(5):E1319-E1331.

Bielas, S L; Silhavy, J L; Brancati, F; Kisseleva, M V; Al-Gazali, L; Sztriha, L; Bayoumi, R A; Zaki, M S; Abdel-Aleem, A; Rosti, R O; Kayserili, H; Swistun, D; Scott, L C; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, S J; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, P W; Valente, E M; Gleeson, J G (2009). Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nature Genetics, 41(9):1032-6.

Revencu, N; Boon, L M; Mulliken, J B; Enjolras, O; Cordisco, M R; Burrows, P E; Clapuyt, P; Hammer, F; Dubois, J; Baselga, E; Brancati, F; Carder, R; Quintal, J M C; Dallapiccola, B; Fischer, G; Frieden, I J; Garzon, M; Harper, J; Johnson-Patel, J; Labrèze, C; Martorell, L; Paltiel, H J; Pohl, A; Prendiville, J; Quere, I; Siegel, D H; Valente, E M; Van Hagen, A; Van Hest, L; Vaux, K K; Vicente, A; Weibel, L; Chitayat, D; Vikkula, M (2008). Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Human Mutation, 29(7):959-965.

Hennies, H C; Kornak, U; Zhang, H; Egerer, J; Zhang, X; Seifert, W; Kühnisch, J; Budde, B; Nätebus, M; Brancati, F; Wilcox, W R; Müller, D; Kaplan, P B; Rajab, A; Zampino, G; Fodale, V; Dallapiccola, B; Newman, W; Metcalfe, K; Clayton-Smith, J; Tassabehji, M; Steinmann, B; Barr, F A; Nürnberg, P; Wieacker, P; Mundlos, S (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40(12):1410-1412.

This list was generated on Thu Jun 27 02:28:36 2019 CEST.