Sfoglia per Autore
A novel family with an unusual early onset generalized dystonia.
2005-01-01 G, Fabbrini; Brancati, F.; L, Vacca; Em, Valente; A, Nemeth; A, Meesaq; N, Sykes; B, Dallapiccola; A, Berardelli
A family study on primary blepharospasm.
2006-01-01 G, Defazio; D, Martino; Ms, Aniello; G, Masi; G, Abbruzzese; S, Lamberti; Em, Valente; Brancati, F.; P, Livrea; A, Berardelli
KBG syndrome
2006-01-01 Brancati, F.; A, Sarkozy; B, Dallapiccola
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
2006-01-01 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
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome.
2006-01-01 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.
2006-01-01 M, Castori; Brancati, F.; Ac, Scanderbeg; B, Dallapiccola
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
2006-01-01 M, Castori; Brancati, F.; R, Rinaldi; L, Adami; R, Mingarelli; P, Grammatico; B, Dallapiccola
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.
2007-01-01 M, Castori; Brancati, F.; R, Mingarelli; S, Mundlos; B, Dallapiccola
Multiplex Ligation-dependent Probe Amplification (MLPA) assay for simultaneous detection of Parkinson’s disease gene rearrangements
2007-01-01 Scarciolla, O; Brancati, Francesco; Valente, Em; Ferraris, A; DE ANGELIS, Maria; Valbonesi, S; Garavaglia, B; Uncini, Antonino; Palka, Giandomenico; Stuppia, Liborio; Dallapiccola, B
Diffusion tensor imaging in Joubert syndrome
2007-01-01 A, Poretti; E, Boltshauser; T, Loenneker; Em, Valente; Brancati, F.; K, Il'Yasov; Ta, Huisman
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.
2007-01-01 J, Clarimon; Brancati, F.; E, Peckham; Em, Valente; B, Dallapiccola; G, Abruzzese; P, Girlanda; G, Defazio; A, Berardelli; M, Hallett; Ab, Singleton
Reticulate vascular lesions and a large head.
2007-01-01 M, Castori; C, Palka; Brancati, F.; R, Mingarelli; B, Dallapiccola
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
2007-01-01 R, Marongiu; Brancati, F.; A, Antonini; T, Ialongo; C, Ceccarini; O, Scarciolla; A, Capalbo; R, Benti; G, Pezzoli; B, Dallapiccola; S, Goldwurm; Em, Valente
Clinical and molecular characterization of Italian patients affected by Cohen syndrome
2007-01-01 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
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
2007-01-01 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
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
2007-01-01 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
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum
2008-01-01 Marongiu, R; Ferraris, A; Ialongo, T; Michiorri, S; Soleti, F; Ferrari, F; Elia, Ae; Ghezzi, D; Albanese, A; Altavista, Mc; Antonini, A; Barone, P; Brusa, L; Cortelli, P; Martinelli, P; Pellecchia, Mt; Pezzoli, G; Scaglione, C; Stanzione, P; Tinazzi, M; Zecchinelli, A; Zeviani, M; Cassetta, E; Garavaglia, B; Dallapiccola, B; Bentivoglio, Ar; Valente, Em; Avarello, T; Barzaghi, C; Conca, E; Bonizzato, A; Bonuccelli, U; Brancati, Francesco; Scarciolla, O; Stuppia, Liborio; Montagna, G; Goldwurm, S; Canesi, M; Mariani, C; Meucci, N; Sacilotto, G; Tesei, S; Fasano, A; Guidubaldi, A; Marelli, C; Nordera, G; Scaravilli, T
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.
2008-01-01 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
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
2008-01-01 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
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
2008-01-01 Hc, Hennies; U, Kornak; H, Zhang; J, Egerer; X, Zhang; W, Seifert; J, Kühnisch; B, Budde; M, Nätebus; Brancati, F.; Wr, Wilcox; D, Müller; Pb, Kaplan; A, Rajab; G, Zampino; V, Fodale; B, Dallapiccola; W, Newman; K, Metcalfe; J, CLAYTON-SMITH; M, Tassabehji; B, Steinmann; Fa, Barr; P, Nürnberg; P, Wieacker; S, Mundlos
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel family with an unusual early onset generalized dystonia. | 1-gen-2005 | G, Fabbrini; Brancati, F.; L, Vacca; Em, Valente; A, Nemeth; A, Meesaq; N, Sykes; B, Dallapiccola; A, Berardelli | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| Diffusion tensor imaging in Joubert syndrome | 1-gen-2007 | A, Poretti; E, Boltshauser; T, Loenneker; Em, Valente; Brancati, F.; K, Il'Yasov; Ta, Huisman | |
| 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 | |
| Reticulate vascular lesions and a large head. | 1-gen-2007 | M, Castori; C, Palka; Brancati, F.; R, Mingarelli; B, Dallapiccola | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum | 1-gen-2008 | Marongiu, R; Ferraris, A; Ialongo, T; Michiorri, S; Soleti, F; Ferrari, F; Elia, Ae; Ghezzi, D; Albanese, A; Altavista, Mc; Antonini, A; Barone, P; Brusa, L; Cortelli, P; Martinelli, P; Pellecchia, Mt; Pezzoli, G; Scaglione, C; Stanzione, P; Tinazzi, M; Zecchinelli, A; Zeviani, M; Cassetta, E; Garavaglia, B; Dallapiccola, B; Bentivoglio, Ar; Valente, Em; Avarello, T; Barzaghi, C; Conca, E; Bonizzato, A; Bonuccelli, U; Brancati, Francesco; Scarciolla, O; Stuppia, Liborio; Montagna, G; Goldwurm, S; Canesi, M; Mariani, C; Meucci, N; Sacilotto, G; Tesei, S; Fasano, A; Guidubaldi, A; Marelli, C; Nordera, G; Scaravilli, T | |
| 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 | |
| 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 | |
| Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin | 1-gen-2008 | Hc, Hennies; U, Kornak; H, Zhang; J, Egerer; X, Zhang; W, Seifert; J, Kühnisch; B, Budde; M, Nätebus; Brancati, F.; Wr, Wilcox; D, Müller; Pb, Kaplan; A, Rajab; G, Zampino; V, Fodale; B, Dallapiccola; W, Newman; K, Metcalfe; J, CLAYTON-SMITH; M, Tassabehji; B, Steinmann; Fa, Barr; P, Nürnberg; P, Wieacker; S, Mundlos |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile