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Titolo Data di pubblicazione Autore(i) File
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. 1-gen-2005 Brancati, F.; M, Castori; R, Mingarelli; B, Dallapiccola
A family study on primary blepharospasm. 1-gen-2006 G, Defazio; D, Martino; Ms, Aniello; G, Masi; G, Abbruzzese; S, Lamberti; Em, Valente; Brancati, F.; P, Livrea; A, Berardelli
KBG syndrome 1-gen-2006 Brancati, F.; A, Sarkozy; B, Dallapiccola
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 1-gen-2006 Em, Valente; Jl, Silhavy; Brancati, F.; G, Barrano; Sr, Krishnaswami; M, Castori; Ma, Lancaster; E, Boltshauser; L, Boccone; L, AL-GAZALI; E, Fazzi; S, Signorini; Cm, Louie; E, Bellacchio; E, Bertini; B, DALLA PICCOLA; Gleeson, Jg
Hypochondrogenesis. 1-gen-2006 M, Castori; Brancati, F.; Ac, Scanderbeg; B, Dallapiccola
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 1-gen-2006 M, Castori; Brancati, F.; R, Rinaldi; L, Adami; R, Mingarelli; P, Grammatico; B, Dallapiccola
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 1-gen-2006 Em, Valente; Brancati, F.; Jl, Silhavy; M, Castori; Se, Marsh; G, Barrano; E, Bertini; E, Boltshauser; Ms, Zaki; A, ABDEL-ALEEM; Gmh, ABDEL-SALAM; E, Bellacchio; R, Battini; Rp, Cruse; Wb, Dobyns; Ks, Krishnamoorthy; C, LAGIER-TOURENNE; A, Magee; I, PASCUAL-CASTROVIEJO; Cd, Salpietro; D, Sarco; B, Dallapiccola; Jg, Gleeson
Reticulate vascular lesions and a large head. 1-gen-2007 M, Castori; C, Palka; Brancati, F.; R, Mingarelli; B, Dallapiccola
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements 1-gen-2007 Scarciolla, O; Brancati, Francesco; Valente, Em; Ferraris, A; DE ANGELIS, Maria; Valbonesi, S; Garavaglia, B; Uncini, Antonino; Palka, Giandomenico; Stuppia, Liborio; Dallapiccola, B
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. 1-gen-2007 R, Marongiu; Brancati, F.; A, Antonini; T, Ialongo; C, Ceccarini; O, Scarciolla; A, Capalbo; R, Benti; G, Pezzoli; B, Dallapiccola; S, Goldwurm; Em, Valente
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 1-gen-2007 J, Clarimon; Brancati, F.; E, Peckham; Em, Valente; B, Dallapiccola; G, Abruzzese; P, Girlanda; G, Defazio; A, Berardelli; M, Hallett; Ab, Singleton
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. 1-gen-2007 F, Simonelli; C, Ziviello; F, Testa; S, Rossi; E, Fazzi; Pe, Bianchi; M, Fossarello; S, Signorini; C, Bertone; S, Galantuomo; Brancati, F.; Em, Valente; A, Ciccodicola; E, Rinaldi; A, Auricchio; S, Banfi
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 1-gen-2007 M, Castori; Brancati, F.; R, Mingarelli; S, Mundlos; B, Dallapiccola
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 1-gen-2007 Brancati, F.; G, Barrano; Jl, Silhavy; Se, Marsh; L, Travaglini; Sl, Bielas; M, Amorini; D, Zablocka; H, Kayserili; L, AL-GAZALI; E, Bertini; E, Boltshauser; M, D'Hooghe; E, Fazzi; Ey, Fenerci; Rc, Hennekam; A, Kiss; Mm, Lees; E, Marco; Sr, Phadke; L, Rigoli; S, Romano; Cd, Salpietro; Eh, Sherr; S, Signorini; P, Stromme; B, Stuart; L, Sztriha; Dh, Viskochil; A, Yuksel; B, Dallapiccola; Em, Valente; Jg, Gleeson
Diffusion tensor imaging in Joubert syndrome 1-gen-2007 A, Poretti; E, Boltshauser; T, Loenneker; Em, Valente; Brancati, F.; K, Il'Yasov; Ta, Huisman
Clinical and molecular characterization of Italian patients affected by Cohen syndrome 1-gen-2007 E, Katzaki; C, Pescucci; V, Uliana; Ft, Papa; F, Ariani; I, Meloni; M, Priolo; A, Selicorni; D, Milani; R, Fischetto; Me, Celle; R, Grasso; B, Dallapiccola; Brancati, F.; M, Bordignon; R, Tenconi; A, Federico; F, Mari; A, Renieri; I, Longo
Genotypes and phenotypes of Joubert syndrome and related disorders 1-gen-2008 Em, Valente; Brancati, F; B, Dallapiccola
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 1-gen-2008 N, Revencu; Lm, Boon; Jb, Mulliken; O, Enjolras; Mr, Cordisco; Pe, Burrows; P, Clapuyt; F, Hammer; J, Dubois; E, Baselga; Brancati, F.; R, Carder; Jm, Quintal; B, Dallapiccola; G, Fischer; Ij, Frieden; M, Garzon; J, Harper; J, JOHNSON-PATEL; C, Labrèze; L, Martorell; Hj, Paltiel; A, Pohl; J, Prendiville; I, Quere; Dh, Siegel; Em, Valente; A, VAN HAGEN; L, VAN HEST; Kk, Vaux; A, Vicente; L, Weibel; D, Chitayat; M, Vikkula
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. 1-gen-2008 Newman, Wg; Clayton-Smith, J; Metcalfe, K; Cole, R; Tartaglia, M; Brancati, F; Morara, S; Novelli, A; Liu, X; Siminovitch, Ka; Mundlos, S; Tassabehji, M; M Black, Gc
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 1-gen-2008 Brancati, F.; Fg, Garaci; R, Mingarelli; B, Dallapiccola
Mostrati risultati da 21 a 40 di 166
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