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A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. 2005 Castori, M; Valente, Em; Clementi, M; Tormene, Ap; Brancati, Francesco; Caputo, V; Dallapiccola, B.
Hypochondrogenesis. 2006 Castori, M; Brancati, Francesco; Scanderbeg, Ac; Dallapiccola, B.
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 2006 Castori, M; Brancati, Francesco; Rinaldi, R; Adami, L; Mingarelli, R; Grammatico, P; Dallapiccola, B.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 2006 Valente, Em; Brancati, Francesco; Silhavy, Jl; Castori, M; Marsh, Se; Barrano, G; Bertini, E; Boltshauser, E; Zaki, Ms; ABDEL ALEEM, A; ABDEL SALAM, Gmh; Bellacchio, E; Battini, R; Cruse, Rp; Dobyns, Wb; Krishnamoorthy, Ks; LAGIER TOURENNE, C; Magee, A; PASCUAL CASTROVIEJO, I; Salpietro, Cd; Sarco, D; Dallapiccola, B; Gleeson, Jg
A family study on primary blepharospasm. 2006 Defazio, G; Martino, D; Aniello, Ms; Masi, G; Abbruzzese, G; Lamberti, S; Valente, Em; Brancati, Francesco; Livrea, P; Berardelli, A.
KBG syndrome 2006 Brancati, Francesco; Sarkozy, A; Dallapiccola, B.
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 2006 Valente, Em; Silhavy, Jl; Brancati, Francesco; Barrano, G; Krishnaswami, Sr; Castori, M; Lancaster, Ma; Boltshauser, E; Boccone, L; AL GAZALI, L; Fazzi, E; Signorini, S; Louie, Cm; Bellacchio, E; Bertini, E; DALLA PICCOLA, B; Jg, Gleeson
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 2007 Castori, M; Brancati, Francesco; Mingarelli, R; Mundlos, S; Dallapiccola, B.
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 2007 Simonelli, F; Ziviello, C; Testa, F; Rossi, Sabrina; Fazzi, E; Bianchi, Pe; Fossarello, M; Signorini, S; Bertone, C; Galantuomo, S; Brancati, Francesco; Valente, Em; Ciccodicola, A; Rinaldi, E; Auricchio, A; Banfi, S.
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 2007 Brancati, Francesco; Barrano, G; Silhavy, Jl; Marsh, Se; Travaglini, L; Bielas, Sl; Amorini, M; Zablocka, D; Kayserili, H; AL GAZALI, L; Bertini, E; Boltshauser, E; D'Hooghe, M; Fazzi, E; Fenerci, Ey; Hennekam, Rc; Kiss, A; Lees, Mm; Marco, E; Phadke, Sr; Rigoli, L; Romano, S; Salpietro, Cd; Sherr, Eh; Signorini, S; Stromme, P; Stuart, B; Sztriha, L; Viskochil, Dh; Yuksel, A; Dallapiccola, B; Valente, Em; Gleeson, Jg
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 2007 Clarimon, J; Brancati, Francesco; Peckham, E; Valente, Em; Dallapiccola, B; Abruzzese, G; Girlanda, P; Defazio, G; Berardelli, A; Hallett, M; Singleton, Ab
Diffusion tensor imaging in Joubert syndrome 2007 Poretti, A; Boltshauser, E; Loenneker, T; Valente, Em; Brancati, Francesco; Il'Yasov, K; Huisman, Ta
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 2007 Katzaki, E; Pescucci, C; Uliana, V; Papa, Ft; Ariani, F; Meloni, I; Priolo, M; Selicorni, A; Milani, D; Fischetto, R; Celle, Me; Grasso, R; Dallapiccola, B; Brancati, Francesco; Bordignon, M; Tenconi, R; Federico, A; Mari, F; Renieri, A; Longo, I.
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 2007 Marongiu, R; Brancati, Francesco; Antonini, A; Ialongo, T; Ceccarini, C; Scarciolla, O; Capalbo, A; Benti, R; Pezzoli, G; Dallapiccola, B; Goldwurm, S; Valente, Em
Reticulate vascular lesions and a large head. 2007 Castori, M; Palka, Chiara; Brancati, Francesco; Mingarelli, R; Dallapiccola, B.
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 2007 Scarciolla, O; Brancati, Francesco; Valente, Em; Ferraris, A; DE ANGELIS, Maria; Valbonesi, S; Garavaglia, B; Uncini, Antonino; Palka, Giandomenico; Stuppia, Liborio; Dallapiccola, B.
Genotypes and phenotypes of Joubert syndrome and related disorders 2008 Valente, Em; Brancati, Francesco; Dallapiccola, B.
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 2008 Brancati, Francesco; Travaglini, L; Zablocka, D; Boltshauser, E; Accorsi, P; Montagna, G; Silhavy, Jl; Barrano, G; Bertini, E; Emma, F; Rigoli, L; Dallapiccola, B; Gleeson, Jg; Valente, Em
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 2008 Hennies, Hc; Kornak, U; Zhang, H; Egerer, J; Zhang, X; Seifert, W; Kühnisch, J; Budde, B; Nätebus, M; Brancati, Francesco; Wilcox, Wr; Müller, D; Kaplan, Pb; Rajab, A; Zampino, G; Fodale, V; Dallapiccola, B; Newman, W; Metcalfe, K; CLAYTON SMITH, J; Tassabehji, M; Steinmann, B; Barr, Fa; Nürnberg, P; Wieacker, P; Mundlos, S.
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 2008 Brancati, Francesco; Garaci, Fg; Mingarelli, R; Dallapiccola, B.
Mostrati risultati da 21 a 40 di 115
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