Sfoglia per Autore
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages
file con accesso da definire1983 Romeo, G; Menozzi, P; Ferlini, Alessandra; Fadda, S; Di Donato, S; Uziel, G; Lucci, B; Capodaglio, L; Filla, A; Campanella, G.
Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening
file con accesso da definire1983 Romeo, G; Menozzi, P; Ferlini, Alessandra; Prosperi, L; Cerone, R; Scalisi, S; Romano, C; Antonozzi, I; Riva, E; Piceni Sereni, L.
New instruments in molecular genetics for the prevention of X chromosome-linked muscular dystrophy].
file con accesso da definire1986 Ferlini, Alessandra; Roncuzzi, L; Romeo, G.
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
file con accesso da definire1986 Kunkel, Lm; Hejtmancik, Jf; Caskey, Ct; Speer, A; Monaco, Ap; Middlesworth, W; Colletti, Ca; Bertelson, C; Müller, U; Bresnan, M; Shapiro, F; Tantravahi, U; Speer, J; Latt, Sa; Bartlett, R; Pericak Vance, Ma; Roses, Ad; Thompson, Mw; Ray, Pn; Worton, Rg; Fischbeck, Kh; Gallano, P; Coulon, M; Duros, C; Boue, J; Junien, C; Chelly, J; Hamard, G; Jeanpierre, M; Lambert, M; Kaplan, Jc; Emery, A; Dorkins, H; Mcglade, S; Davies, Ke; Boehm, C; Arveiler, B; Lemaire, C; Morgan, Gj; Denton, Mj; Amos, J; Bobrow, M; Benham, F; Boswinkel, E; Cole, C; Dubowitz, V; Hart, K; Hodgson, S; Johnson, L; Walker, A; Roncuzzi, L; Ferlini, Alessandra; Nobile, C; Romeo, G; Wilcox, De; Affara, Na; Ferguson Smith, Ma; Lindolf, M; Kaariainen, H; de la Chapelle, A; Ionasescu, V; Searby, C; Ionasescu, R; Bakker, E; van Ommen, Gj; Pearson, Pl; Greenberg, Cr; Hamerton, Jl; Wrogemann, K; Doherty, Ra; Polakowska, R; Hyser, C; Quirk, S; Thomas, N; Harper, Jf; Darras, Bt; Francke, U.
Rett syndrome: lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations.
file con accesso da definire1986 Romeo, G; Archidiacono, N; Ferlini, Alessandra; Rocchi, M.
Origin of new mutations in Duchenne muscular dystrophy
file con accesso da definire1986 Roncuzzi, L; Ferlini, Alessandra; Pirozzi, A; Romeo, G.
X-linked muscular dystrophies: studies through functional assay and DNA polymorphisms
file con accesso da definire1988 Romeo, G; Rocchi, M; Roncuzzi, L; Ferlini, Alessandra; Nobile, C; Rugolo, M.
Discrimination of peripheral polyneuropathies caused by TTR variant or diabetes in the same pedigree through protein studies.
file con accesso da definire1988 Ferlini, Alessandra; Romeo, G; Tassinari, Ca; Saraiva, Mj; Costa, Pp; Salvi, F.
Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin
file con accesso da definire1988 Saraiva, Mj; Costa, Pp; Almeida Mdo, R; Banzhoff, A; Altland, K; Ferlini, Alessandra; Rubboli, G; Plasmati, R; Tassinari, Ca; Romeo, G.
Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies
file con accesso da definire1988 Romeo, G; Devoto, M; Archidiacono, N; Ferlini, Alessandra; Roncuzzi, L; Melis, Ma; Paderi, E; Ferrari, M; Tedeschi, S; Galluzzi, G.
Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe
file con accesso da definire1990 Ferlini, Alessandra; Ansaloni, L; Nobile, C; Forabosco, A.
Reduced activity of arylsulfatase A and predisposition to neurological disorders: Analysis of 140 pediatric patients
file con accesso da definire1991 Sangiorgi, S; Ferlini, Alessandra; Zanetti, A; Mochi, M.
Muscle energy metabolism in female DMD/BMD carriers: a 31P-MR spectroscopy study
file con accesso da definire1992 Barbiroli, B; Funicello, R; Ferlini, Alessandra; Montagna, P; Zaniol, P.
31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport
file con accesso da definire1992 Barbiroli, B; Funicello, R; Iotti, S; Montagna, P; Ferlini, Alessandra; Zaniol, P.
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis.
file con accesso da definire1992 Almeida, Mr; Ferlini, Alessandra; Forabosco, A; Gawinowicz, M; Costa, Pp; Salvi, F; Plasmati, R; Tassinari, Ca; Altland, K; Saraiva, M. J.
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis.
file con accesso da definire1992 Ferlini, Alessandra; Fini, S; Salvi, F; Patrosso, Mc; Vezzoni, P; Forabosco, A.
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families.
file con accesso da definire1993 Salvi, F; Salvi, G; Volpe, R; Mencucci, R; Plasmati, R; Michelucci, R; Gobbi, P; Santangelo, M; Ferlini, Alessandra; Forabosco, A.
Characterization of a deleted Y chromosome in a male with Turner stigmata
file con accesso da definire1993 Calzolari, Elisa; Patracchini, P; Palazzi, Patricia; Aiello, Vincenzo; Ferlini, Alessandra; Trasforini, G; DEGLI UBERTI, Ettore; Bernardi, Francesco
Capillary electrophoresis of polymerase chain reaction‐amplified products in polymer networks: The case of Kennedy's disease
file con accesso da definire1994 Nesi, M; Righetti, Pg; Patrosso, Mc; Ferlini, Alessandra; Chiari, M.
A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis
file con accesso da definire1994 Ferlini, Alessandra; Patrosso, Mc; Repetto, M; Frattini, A; Villa, A; Fini, S; Salvi, F; Vezzoni, P; Forabosco, A.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages | 1983 | Romeo, G; Menozzi, P; Ferlini, Alessandra; Fadda, S; Di Donato, S; Uziel, G; Lucci, B; Capodaglio..., L; Filla, A; Campanella, G. | file con accesso da definire |
Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening | 1983 | Romeo, G; Menozzi, P; Ferlini, Alessandra; Prosperi, L; Cerone, R; Scalisi, S; Romano, C; Antonoz...zi, I; Riva, E; Piceni Sereni, L. | file con accesso da definire |
New instruments in molecular genetics for the prevention of X chromosome-linked muscular dystrophy]. | 1986 | Ferlini, Alessandra; Roncuzzi, L; Romeo, G. | file con accesso da definire |
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy | 1986 | Kunkel, Lm; Hejtmancik, Jf; Caskey, Ct; Speer, A; Monaco, Ap; Middlesworth, W; Colletti, Ca; Bert...elson, C; Müller, U; Bresnan, M; Shapiro, F; Tantravahi, U; Speer, J; Latt, Sa; Bartlett, R; Pericak Vance, Ma; Roses, Ad; Thompson, Mw; Ray, Pn; Worton, Rg; Fischbeck, Kh; Gallano, P; Coulon, M; Duros, C; Boue, J; Junien, C; Chelly, J; Hamard, G; Jeanpierre, M; Lambert, M; Kaplan, Jc; Emery, A; Dorkins, H; Mcglade, S; Davies, Ke; Boehm, C; Arveiler, B; Lemaire, C; Morgan, Gj; Denton, Mj; Amos, J; Bobrow, M; Benham, F; Boswinkel, E; Cole, C; Dubowitz, V; Hart, K; Hodgson, S; Johnson, L; Walker, A; Roncuzzi, L; Ferlini, Alessandra; Nobile, C; Romeo, G; Wilcox, De; Affara, Na; Ferguson Smith, Ma; Lindolf, M; Kaariainen, H; de la Chapelle, A; Ionasescu, V; Searby, C; Ionasescu, R; Bakker, E; van Ommen, Gj; Pearson, Pl; Greenberg, Cr; Hamerton, Jl; Wrogemann, K; Doherty, Ra; Polakowska, R; Hyser, C; Quirk, S; Thomas, N; Harper, Jf; Darras, Bt; Francke, U. | file con accesso da definire |
Rett syndrome: lack of association with fragile site Xp22 and strategy for genetic mapping of X-linked new mutations. | 1986 | Romeo, G; Archidiacono, N; Ferlini, Alessandra; Rocchi, M. | file con accesso da definire |
Origin of new mutations in Duchenne muscular dystrophy | 1986 | Roncuzzi, L; Ferlini, Alessandra; Pirozzi, A; Romeo, G. | file con accesso da definire |
X-linked muscular dystrophies: studies through functional assay and DNA polymorphisms | 1988 | Romeo, G; Rocchi, M; Roncuzzi, L; Ferlini, Alessandra; Nobile, C; Rugolo, M. | file con accesso da definire |
Discrimination of peripheral polyneuropathies caused by TTR variant or diabetes in the same pedigree through protein studies. | 1988 | Ferlini, Alessandra; Romeo, G; Tassinari, Ca; Saraiva, Mj; Costa, Pp; Salvi, F. | file con accesso da definire |
Familial amyloidotic polyneuropathy: transthyretin (prealbumin) variants in kindreds of Italian origin | 1988 | Saraiva, Mj; Costa, Pp; Almeida Mdo, R; Banzhoff, A; Altland, K; Ferlini, Alessandra; Rubboli, G;... Plasmati, R; Tassinari, Ca; Romeo, G. | file con accesso da definire |
Italian experience regarding the prevention of Duchenne and Becker muscular dystrophies | 1988 | Romeo, G; Devoto, M; Archidiacono, N; Ferlini, Alessandra; Roncuzzi, L; Melis, Ma; Paderi, E; Fer...rari, M; Tedeschi, S; Galluzzi, G. | file con accesso da definire |
Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe | 1990 | Ferlini, Alessandra; Ansaloni, L; Nobile, C; Forabosco, A. | file con accesso da definire |
Reduced activity of arylsulfatase A and predisposition to neurological disorders: Analysis of 140 pediatric patients | 1991 | Sangiorgi, S; Ferlini, Alessandra; Zanetti, A; Mochi, M. | file con accesso da definire |
Muscle energy metabolism in female DMD/BMD carriers: a 31P-MR spectroscopy study | 1992 | Barbiroli, B; Funicello, R; Ferlini, Alessandra; Montagna, P; Zaniol, P. | file con accesso da definire |
31P-NMR spectroscopy of skeletal muscle in Becker dystrophy and DMD/BMD carriers. Altered rate of phosphate transport | 1992 | Barbiroli, B; Funicello, R; Iotti, S; Montagna, P; Ferlini, Alessandra; Zaniol, P. | file con accesso da definire |
Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosis. | 1992 | Almeida, Mr; Ferlini, Alessandra; Forabosco, A; Gawinowicz, M; Costa, Pp; Salvi, F; Plasmati, R; ...Tassinari, Ca; Altland, K; Saraiva, M. J. | file con accesso da definire |
Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. | 1992 | Ferlini, Alessandra; Fini, S; Salvi, F; Patrosso, Mc; Vezzoni, P; Forabosco, A. | file con accesso da definire |
Transthyretin-related TTR hereditary amyloidosis of the vitreous body. Clinical and molecular characterization in two Italian families. | 1993 | Salvi, F; Salvi, G; Volpe, R; Mencucci, R; Plasmati, R; Michelucci, R; Gobbi, P; Santangelo, M; F...erlini, Alessandra; Forabosco, A. | file con accesso da definire |
Characterization of a deleted Y chromosome in a male with Turner stigmata | 1993 | Calzolari, Elisa; Patracchini, P; Palazzi, Patricia; Aiello, Vincenzo; Ferlini, Alessandra; Trasf...orini, G; DEGLI UBERTI, Ettore; Bernardi, Francesco | file con accesso da definire |
Capillary electrophoresis of polymerase chain reaction‐amplified products in polymer networks: The case of Kennedy's disease | 1994 | Nesi, M; Righetti, Pg; Patrosso, Mc; Ferlini, Alessandra; Chiari, M. | file con accesso da definire |
A new mutation (TTR Ala‐47) in the transthyretin gene associated with hereditary amyloidosis | 1994 | Ferlini, Alessandra; Patrosso, Mc; Repetto, M; Frattini, A; Villa, A; Fini, S; Salvi, F; Vezzoni,... P; Forabosco, A. | file con accesso da definire |
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