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Results:
1-16
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Results: 16
Authors:
Miano, MG
Testa, F
Filippini, F
Trujillo, M
Conte, I
Lanzara, C
Millan, JM
De Bernardo, C
Grammatico, B
Mangino, M
Torrente, I
Carrozzo, R
Simonelli, F
Rinaldi, E
Ventruto, V
D'Urso, M
Ayuso, C
Ciccodicola, A
Citation: Mg. Miano et al., Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains, HUM MUTAT, 18(2), 2001, pp. 109-119
Authors:
Aradhya, S
Bardaro, T
Galgoczy, P
Yamagata, T
Esposito, T
Patlan, H
Ciccodicola, A
Munnich, A
Kenwrick, S
Platzer, M
D'Urso, M
Nelson, DL
Citation: S. Aradhya et al., Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes, HUM MOL GEN, 10(22), 2001, pp. 2557-2567
Authors:
Di Iorio, G
Cappa, V
Ciccodicola, A
Sampaolo, S
Ammendola, A
Sanges, G
Giugliano, R
D'Urso, M
Citation: G. Di Iorio et al., A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease, NEUROL SCI, 21(2), 2000, pp. 109-112
Authors:
Vervoort, R
Lennon, A
Bird, AC
Tulloch, B
Axton, R
Miano, MG
Meindl, A
Meitinger, T
Ciccodicola, A
Wright, AF
Citation: R. Vervoort et al., Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa, NAT GENET, 25(4), 2000, pp. 462-466
Authors:
Ciccodicola, A
D'Esposito, M
Esposito, T
Gianfrancesco, F
Migliaccio, C
Miano, MG
Matarazzo, MR
Vacca, M
Franze, A
Cuccurese, M
Cocchia, M
Curci, A
Terracciano, A
Torino, A
Cocchia, S
Mercadante, G
Pannone, E
Archidiacono, N
Rocchi, M
Schlessinger, D
D'Urso, M
Citation: A. Ciccodicola et al., Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region, HUM MOL GEN, 9(3), 2000, pp. 395-401
Authors:
Palmieri, G
de Franciscis, V
Casamassimi, A
Romano, G
Torino, A
Pingitore, P
Califano, D
Santelli, G
Eva, A
Vecchio, G
D'Urso, M
Ciccodicola, A
Citation: G. Palmieri et al., Human dbl proto-oncogene in 85 kb of Xq26, and determination of the transcription initiation site, GENE, 253(1), 2000, pp. 107-115
Authors:
Aradhya, S
Ahobila, P
Lewis, RA
Nelson, DL
Esposito, T
Ciccodicola, A
Bardaro, T
D'Urso, M
Woffendin, H
Kenwrick, S
Smahi, A
Heuertz, S
Munnich, A
Heiss, NS
Poustka, A
Chishti, AH
Citation: S. Aradhya et al., Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von-Hippel Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2, AM J MED G, 94(1), 2000, pp. 79-84
Authors:
Aradhya, S
Nelson, DL
Heiss, NS
Poustka, A
Woffendin, H
Kenwrick, S
Esposito, T
Ciccodicola, A
Bardaro, T
D'Urso, M
Smahi, A
Munnich, A
Herman, GE
Lewis, RA
Citation: S. Aradhya et al., Human homologue of the murine Bare patches/Striated gene is not mutated inIncontinentia Pigmenti type 2, AM J MED G, 91(3), 2000, pp. 241-244
Authors:
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
Citation: D. De Brasi et al., Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Delta7-sterol reductase in Italy and report of three novel mutations, EUR J HUM G, 7(8), 1999, pp. 937-940
Authors:
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
Citation: Mg. Miano et al., Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa, EUR J HUM G, 7(6), 1999, pp. 687-694
Authors:
Rozzo, C
Fossarello, M
Galleri, G
Miano, MG
Ciccodicola, A
Sole, G
Pirastu, M
Citation: C. Rozzo et al., Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family, EUR J HUM G, 7(5), 1999, pp. 574-578
Authors:
Esposito, T
Gianfrancesco, F
Ciccodicola, A
Montanini, L
Mumm, S
D'Urso, M
Forabosco, A
Citation: T. Esposito et al., A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases, HUM MOL GEN, 8(1), 1999, pp. 61-67
Authors:
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
Citation: Mr. Matarazzo et al., Human and mouse SYBL1 gene structure and expression, GENE, 240(1), 1999, pp. 233-238
Authors:
Gianfrancesco, F
Esposito, T
Ciccodicola, A
D'Esposito, M
Mazzarella, R
D'Urso, M
Forabosco, A
Citation: F. Gianfrancesco et al., Molecular cloning and fine mapping of API5L1, a novel human gene strongly related to an antiapoptotic gene, CYTOG C GEN, 84(3-4), 1999, pp. 164-166
Authors:
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
Citation: Ns. Heiss et al., Mutation analysis of the DKC1 gene in incontinentia pigmenti, J MED GENET, 36(11), 1999, pp. 860-862
Authors:
D'Esposito, M
Strazzullo, M
Cuccurese, M
Spalluto, C
Rocchi, M
D'Urso, M
Ciccodicola, A
Citation: M. D'Esposito et al., Identification and assignment of the human transient receptor potential channel 6 gene TRPC6 to chromosome 11q21 -> q22, CYTOG C GEN, 83(1-2), 1998, pp. 46-47
Risultati:
1-16
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