Sfoglia per Autore
Klinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray
1998-01-01 Geschwind, Dh; Gregg, J; Boone, K; Karrim, J; Pawlikowska-Haddal, A; Rao, E; Ellison, J; Ciccodicola, A; D'Urso, M; Woods, R; Rappold, Ga; Swerdloff, R; Nelson, Sf
Ocular signs associated with a rhodopsin mutation (Cys-167 -> Arg) in a family with autosomal dominant retinitis pigmentosa
1998-01-01 Simonelli, F; Rinaldi, M; Nesti, A; Testa, F; Rinaldi, E; Ciccodicola, A; Flagiello, L; Miano, Mg; Ventruto, V; D'Urso, M
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity
1998-01-01 de Crecchio, G; Simonelli, F; Nunziata, G; Mazzeo, S; Greco, Gm; Rinaldi, E; Ventruto, V; Ciccodicola, A; Miano, Mg; Testa, F; Curci, A; D'Urso, M; Rinaldi, Mm; Cavaliere, Ml; Castelluccio, P
Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21 -> q22
1998-01-01 D'Esposito, M; Strazzullo, M; Cuccurese, M; Spalluto, C; Rocchi, M; D'Urso, M; Ciccodicola, A
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse
1998-01-01 Lorenz, B; Migliaccio, C; Lichtner, P; Meyer, C; Strom, Tm; D'Urso, M; Becker, J; Ciccodicola, A; Meitinger, T
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
1999-01-01 Miano, Mg; Testa, F; Strazzullo, M; Trujillo, M; De Bernardo, C; Grammatico, B; Simonelli, F; Mangino, M; Torrente, I; Ruberto, G; Beneyto, M; Antinolo, G; Rinaldi, E; Danesino, C; Ventruto, V; D'Urso, M; Ayuso, C; Baiget, M; Ciccodicola, A
From sequence analysis to diseases identification in the distal human xq28
1999-01-01 Ciccodicola, A; Esposito, T; Matarazzo, Mr; Gianfrancesco, F; Cocchia, M; Cuccerese, M; Bardaro, T; Manfellotto, M; Miano, Mg; Migliaccio, C; Vacca, M; Franze', A; Cocchia, S; Mercadante, G; Terracciano, A; Torino, A; Ventruto, V; D'Esposito, M; D'Urso, M
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Delta 7-sterol reductase in Italy and report of three novel mutations
1999-01-01 De Brasi, D; Esposito, T; Rossi, M; Parenti, G; Sperandeo, Mp; Zuppaldi, A; Bardaro, T; Ambruzzi, Ma; Zelante, L; Ciccodicola, A; Sebastio, G; D'Urso, M; Andria, G
Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family
1999-01-01 Rozzo, C; Fossarello, M; Galleri, G; Miano, Mg; Ciccodicola, A; Sole, G; Pirastu, M
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases
1999-01-01 Esposito, T; Gianfrancesco, F; Ciccodicola, A; Montanini, L; Mumm, S; D'Urso, M; Forabosco, A
Mutation analysis of the DKC1 gene in incontinentia pigmenti
1999-01-01 Heiss, Ns; Poustka, A; Knight, Sw; Aradhya, S; Nelson, Dl; Lewis, Ra; Esposito, T; Ciccodicola, A; D'Urso, M; Smahi, A; Heuertz, S; Munnich, A; Vabres, P; Woffendin, H; Kenwrick, S
Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene
1999-01-01 Gianfrancesco, F; Esposito, T; Ciccodicola, A; D'Esposito, M; Mazzarella, R; D'Urso, M; Forabosco, A
Human and mouse SYBL1 gene structure and expression
1999-01-01 Matarazzo, Mr; Cuccurese, M; Strazzullo, M; Vacca, M; Curci, A; Miano, Mg; Cocchia, M; Mercadante, G; Torino, A; D'Urso, M; Ciccodicola, A; D'Esposito, M
Mutation analysis in patients with X-linked retinitis pigmentosa
1999-01-01 D'Urso, M; Miano, Mg; Testa, F; Simonelli, F; Baiget, M; Ciccodicola, A
Metodi di indagine oftalmologici e genetico-molecolari
2000-01-01 Simonelli, F; Testa, F; Ciccodicola, A; Miano, Mg
Malattie ereditarie del segmento anteriore dell'occhio
2000-01-01 Simonelli, F; Testa, F; Rinaldi, E; Ciccodicola, A; Miano, Mg
Anomalie dello sviluppo
2000-01-01 Simonelli, F; Ciccodicola, A
Tumori
2000-01-01 Simonelli, F; Testa, F; Ciccodicola, A; Miano, Mg
Malattie ereditarie della coroide, della retina e del nervo ottico
2000-01-01 Simonelli, F; Ciccodicola, A
The complete genomic sequence of the human RPGR gene reveals new expressed sequences
2000-01-01 Vervoort, R; Miano, Mg; Lennon, A; Meindl, A; Conte, I; D'Urso, M; Meitinger, T; Bird, Ac; Ciccodicola, A; Wright, Af
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Klinefelter's syndrome as a model of anomalous cerebral laterality: Testing gene dosage in the X chromosome pseudoautosomal region using a DNA microarray | 1-gen-1998 | Geschwind, Dh; Gregg, J; Boone, K; Karrim, J; Pawlikowska-Haddal, A; Rao, E; Ellison, J; Ciccodicola, A; D'Urso, M; Woods, R; Rappold, Ga; Swerdloff, R; Nelson, Sf | |
Ocular signs associated with a rhodopsin mutation (Cys-167 -> Arg) in a family with autosomal dominant retinitis pigmentosa | 1-gen-1998 | Simonelli, F; Rinaldi, M; Nesti, A; Testa, F; Rinaldi, E; Ciccodicola, A; Flagiello, L; Miano, Mg; Ventruto, V; D'Urso, M | |
Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity | 1-gen-1998 | de Crecchio, G; Simonelli, F; Nunziata, G; Mazzeo, S; Greco, Gm; Rinaldi, E; Ventruto, V; Ciccodicola, A; Miano, Mg; Testa, F; Curci, A; D'Urso, M; Rinaldi, Mm; Cavaliere, Ml; Castelluccio, P | |
Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21 -> q22 | 1-gen-1998 | D'Esposito, M; Strazzullo, M; Cuccurese, M; Spalluto, C; Rocchi, M; D'Urso, M; Ciccodicola, A | |
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse | 1-gen-1998 | Lorenz, B; Migliaccio, C; Lichtner, P; Meyer, C; Strom, Tm; D'Urso, M; Becker, J; Ciccodicola, A; Meitinger, T | |
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa | 1-gen-1999 | Miano, Mg; Testa, F; Strazzullo, M; Trujillo, M; De Bernardo, C; Grammatico, B; Simonelli, F; Mangino, M; Torrente, I; Ruberto, G; Beneyto, M; Antinolo, G; Rinaldi, E; Danesino, C; Ventruto, V; D'Urso, M; Ayuso, C; Baiget, M; Ciccodicola, A | |
From sequence analysis to diseases identification in the distal human xq28 | 1-gen-1999 | Ciccodicola, A; Esposito, T; Matarazzo, Mr; Gianfrancesco, F; Cocchia, M; Cuccerese, M; Bardaro, T; Manfellotto, M; Miano, Mg; Migliaccio, C; Vacca, M; Franze', A; Cocchia, S; Mercadante, G; Terracciano, A; Torino, A; Ventruto, V; D'Esposito, M; D'Urso, M | |
Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Delta 7-sterol reductase in Italy and report of three novel mutations | 1-gen-1999 | De Brasi, D; Esposito, T; Rossi, M; Parenti, G; Sperandeo, Mp; Zuppaldi, A; Bardaro, T; Ambruzzi, Ma; Zelante, L; Ciccodicola, A; Sebastio, G; D'Urso, M; Andria, G | |
Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family | 1-gen-1999 | Rozzo, C; Fossarello, M; Galleri, G; Miano, Mg; Ciccodicola, A; Sole, G; Pirastu, M | |
A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases | 1-gen-1999 | Esposito, T; Gianfrancesco, F; Ciccodicola, A; Montanini, L; Mumm, S; D'Urso, M; Forabosco, A | |
Mutation analysis of the DKC1 gene in incontinentia pigmenti | 1-gen-1999 | Heiss, Ns; Poustka, A; Knight, Sw; Aradhya, S; Nelson, Dl; Lewis, Ra; Esposito, T; Ciccodicola, A; D'Urso, M; Smahi, A; Heuertz, S; Munnich, A; Vabres, P; Woffendin, H; Kenwrick, S | |
Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene | 1-gen-1999 | Gianfrancesco, F; Esposito, T; Ciccodicola, A; D'Esposito, M; Mazzarella, R; D'Urso, M; Forabosco, A | |
Human and mouse SYBL1 gene structure and expression | 1-gen-1999 | Matarazzo, Mr; Cuccurese, M; Strazzullo, M; Vacca, M; Curci, A; Miano, Mg; Cocchia, M; Mercadante, G; Torino, A; D'Urso, M; Ciccodicola, A; D'Esposito, M | |
Mutation analysis in patients with X-linked retinitis pigmentosa | 1-gen-1999 | D'Urso, M; Miano, Mg; Testa, F; Simonelli, F; Baiget, M; Ciccodicola, A | |
Metodi di indagine oftalmologici e genetico-molecolari | 1-gen-2000 | Simonelli, F; Testa, F; Ciccodicola, A; Miano, Mg | |
Malattie ereditarie del segmento anteriore dell'occhio | 1-gen-2000 | Simonelli, F; Testa, F; Rinaldi, E; Ciccodicola, A; Miano, Mg | |
Anomalie dello sviluppo | 1-gen-2000 | Simonelli, F; Ciccodicola, A | |
Tumori | 1-gen-2000 | Simonelli, F; Testa, F; Ciccodicola, A; Miano, Mg | |
Malattie ereditarie della coroide, della retina e del nervo ottico | 1-gen-2000 | Simonelli, F; Ciccodicola, A | |
The complete genomic sequence of the human RPGR gene reveals new expressed sequences | 1-gen-2000 | Vervoort, R; Miano, Mg; Lennon, A; Meindl, A; Conte, I; D'Urso, M; Meitinger, T; Bird, Ac; Ciccodicola, A; Wright, Af |
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