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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
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 1-gen-2008 Brancati, F; L, Travaglini; D, Zablocka; E, Boltshauser; P, Accorsi; G, Montagna; Jl, Silhavy; G, Barrano; E, Bertini; F, Emma; L, Rigoli; B, Dallapiccola; Jg, Gleeson; Em, Valente
Genotypes and phenotypes of Joubert syndrome and related disorders 1-gen-2008 Em, Valente; Brancati, F; B, Dallapiccola
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 1-gen-2008 M, Fiorio; Em, Valente; M, Gambarin; Ar, Bentivoglio; T, Ialongo; A, Albanese; P, Barone; Mt, Pellecchia; Brancati, F.; G, Moretto; A, Fiaschi; M, Tinazzi
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 1-gen-2008 Brancati, F.; Fg, Garaci; R, Mingarelli; B, Dallapiccola
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 1-gen-2009 Dentici, Ml; Brancati, Francesco; Mingarelli, R; Dallapiccola, B
Expanding CEP290 mutational spectrum in ciliopathies. 1-gen-2009 Travaglini, L; Brancati, F; Attie-Bitach, T; Audollent, S; Bertini, E; Kaplan, J; Perrault, I; Iannicelli, M; Mancuso, B; Rigoli, L; Rozet, Jm; Swistun, D; Tolentino, J; Dallapiccola, B; Gleeson, Jg; Valente, Em; International JSRD Study, Group; 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; Kim, Ca; Maegawa, G; Petkovic, D; Abdel-Salam, Gm; Abdel-Aleem, A; Zaki, Ms; Marti, I; Quijano-Roy, S; Sigaudy, S; de Lonlay, P; Romano, S; Touraine, R; Koenig, M; Lagier-Tourenne, C; Messer, J; Collignon, P; Wolf, N; Philippi, H; Kitsiou Tzeli, S; Halldorsson, S; Johannsdottir, J; Ludvigsson, P; Phadke, Sr; Udani, V; Stuart, B; Magee, A; Lev, D; Michelson, M; Ben-Zeev, B; Fischetto, R; Benedicenti, F; Stanzial, F; Borgatti, R; Accorsi, P; Battaglia, S; Fazzi, E; Giordano, L; Pinelli, L; Boccone, L; Bigoni, S; Ferlini, A; Donati, Ma; Caridi, G; Divizia, Mt; Faravelli, F; Ghiggeri, G; Pessagno, A; Briguglio, M; Briuglia, S; Salpietro, Cd; Tortorella, G; Adami, A; Castorina, P; Lalatta, F; Marra, G; Riva, D; Scelsa, B; Spaccini, L; Uziel, G; Del Giudice, E; Laverda, Am; Ludwig, K; Permunian, A; Suppiej, A; Signorini, S; Uggetti, C; Battini, R; Di Giacomo, M; Cilio, Mr; Di Sabato, Ml; Leuzzi, V; Parisi, P; Pollazzon, M; Silengo, M; De Vescovi, R; Greco, D; Romano, C; Cazzagon, M; Simonati, A; Al-Tawari, Aa; Bastaki, L; Mégarbané, A; Sabolic Avramovska, V; de Jong, Mm; Stromme, P; Koul, R; Rajab, A; Azam, M; Barbot, C; Martorell Sampol, L; Rodriguez, B; Pascual-Castroviejo, I; Teber, S; Anlar, B; Comu, S; Karaca, E; Kayserili, H; Yüksel, A; Akcakus, M; Al Gazali, L; Sztriha, L; Nicholl, D; Woods, Cg; Bennett, C; Hurst, J; Sheridan, E; Barnicoat, A; Hennekam, R; Lees, M; Blair, E; Bernes, S; Sanchez, H; Clark, Ae; Demarco, E; Donahue, C; Sherr, E; Hahn, J; Sanger, Td; Gallager, Te; Dobyns, Wb; Daugherty, C; Krishnamoorthy, Ks; Sarco, D; Walsh, Ca; Mckanna, T; Milisa, J; Chung, Wk; De Vivo, Dc; Raynes, H; Schubert, R; Seward, A; Brooks, Dg; Goldstein, A; Caldwell, J; Finsecke, E; Maria, Bl; Holden, K; Cruse, Rp; Swoboda, Kj; Viskochil, D
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 1-gen-2009 Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; Al-Gazali, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; Abdel-Aleem, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, E; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 1-gen-2009 Defazio, G; Matarin, M; Peckham, El; Martino, D; Valente, Em; Singleton, A; Crawley, A; Aniello, Ms; Brancati, F; Abbruzzese, G; Girlanda, P; Livrea, P; Hallett, M; Berardelli, A
Mutations in PYCR1 cause cutis laxa with progeroid features. 1-gen-2009 Reversade, B; Escande-Beillard, N; Dimopoulou, A; Fischer, B; Chng, Sc; Li, Y; Shboul, M; Tham, Py; Kayserili, H; Al-Gazali, L; Shahwan, M; Brancati, F; Lee, H; O'Connor, Bd; Schmidt-von Kegler, M; Merriman, B; Nelson, Sf; Masri, A; Alkazaleh, F; Guerra, D; Ferrari, P; Nanda, A; Rajab, A; Markie, D; Gray, M; Nelson, J; Grix, A; Sommer, A; Savarirayan, R; Janecke, Ar; Steichen, E; Sillence, D; Hausser, I; Budde, B; Nürnberg, G; Nürnberg, P; Seemann, P; Kunkel, D; Zambruno, G; Dallapiccola, B; Schuelke, M; Robertson, S; Hamamy, H; Wollnik, B; Van Maldergem, L; Mundlos, S; Kornak, U
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. 1-gen-2009 Brancati, F; Bernardini, L; Cavalcanti, Dp; Romano, C; Novelli, A; Dallapiccola, B
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 1-gen-2009 Suppa, A; Berardelli, A; Brancati, F; Marianetti, M; Barrano, G; Mina, C; Pizzuti, A; Sideri, G
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 1-gen-2009 Giordano, L; Vignoli, A; Pinelli, L; Brancati, F; Accorsi, P; Faravelli, F; Gasparotti, R; Granata, T; Giaccone, G; Inverardi, F; Frassoni, C; Dallapiccola, B; Valente, Em; Spreafico, R
Mutation screening of the DYT6/THAP1 gene in Italy. 1-gen-2009 Bonetti, M; Barzaghi, C; Brancati, F; Ferraris, A; Bellacchio, E; Giovanetti, A; Ialongo, T; Zorzi, G; Piano, C; Petracca, M; Albanese, A; Nardocci, N; Dallapiccola, B; Bentivoglio, Ar; Garavaglia, B; Valente, Em
Normal cognitive functions in joubert syndrome. 1-gen-2009 Poretti, A; Alber, Fd; Brancati, F; Dallapiccola, B; Valente, Em; Boltshauser, E
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 1-gen-2010 Palka, Chiara; Giuliani, Rossella; Brancati, Francesco; MOHN Angelika, Anna; Di Muzio, A; Calabrese, O; Huebner, A; De Grandis, D; Chiarelli, Francesco; Ferlini, A; Stuppia, Liborio
A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. 1-gen-2010 Sinibaldi, L.; Harifi, G.; Bottillo, I.; Iannicelli, M.; Hassani, Se.; Brancati, F.; Dallapiccola, B.
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 1-gen-2010 Cm, Louie; G, Caridi; Vs, Lopes; Brancati, Francesco; A, Kispert; Ma, Lancaster; Am, Schlossman; Ea, Otto; M, Leitges; H, Gröne; I, Lopez; Hv, Gudiseva; Jf, O'Toole; E, Vallespin; R, Ayyagari; C, Ayuso; Fp, M; Ai, Den; Rk, Koenekoop; B, Dallapiccola; Gm, Ghiggeri; F, Hildebrandt; Em, Valente; Ds, Williams; Jg, Gleeson
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 1-gen-2010 Brancati, Francesco; Fortugno, P; Bottillo, I; Lopez, M; Josselin, E; Boudghene Stambouli, O; Agolini, E; Bernardini, L; Bellacchio, E; Iannicelli, M; Rossi, A; Dib Lachachi, A; Stuppia, Liborio; Palka, Giandomenico; Mundlos, S; Stricker, S; Kornak, U; Zambruno, G; Dallapiccola, B
Mostrati risultati da 41 a 60 di 166
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