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Titolo Data di pubblicazione Autore(i) File
Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes 1-gen-1998 Rocchigiani, M; Lestingi, M; Luddi, A; Orlandini, M; Franco, B; Rossi, Elena; Ballabio, A; Zuffardi, Orsetta; Oliviero, S.
Identification and characterization of a novel member of the dystrobrevin gene family. 1-gen-1998 Puca, Aa; Nigro, V; Piluso, G; Belsito, A; Sampaolo, S; Quaderi, N; Rossi, Elena; DI IORIO, G; Ballabio, A; Franco, B.
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern. 1-gen-1998 Canevini, Mp; Sgro, V; Zuffardi, Orsetta; Canger, R; Carrozzo, R; Rossi, Elena; Ledbetter, D; Minicucci, F; Vignoli, A; Piazzini, A; Guidolin, L; Saltarelli, A; DALLA BERNARDINA, B.
identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene 1-gen-1999 Volta, M; Bilfone, A; Gattuso, C; Rossi, Elena; Mariani, M; Consalez, Gg; Zuffardi, Orsetta; Ballabio, A; Banfi, S; Franco, B.
Unbalanced cryptic t(1q:12q) translocation in an apparently X-linked syndrome with pachygyria, mental retardation and hypogenitalism 1-gen-1999 Neri, G; Rossi, Elena; Walsh, Ca; Zuffardi, Orsetta; Zollino, M.
Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. 1-gen-1999 Volta, M.; Bulfone, A.; Gattuso, C.; Rossi, Elena; Mariani, M.; Consalez, G. G.; Zuffardi, Orsetta; Ballabio, A.; Banfi, S.; Franco, B.
Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases 1-gen-1999 Monti, E.; Preti, A.; Rossi, Elena; Ballabio, A.; Borsani, G.
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly. 1-gen-1999 Fogli, A; Guerrini, R; Moro, F; Fernandezalvarez, E; Livet, Mo; Renieri, A; Cioni, M; Pilz, Dt; Veggiotti, P; Rossi, Elena; Ballabio, A; Carrozzo, R.
Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency. 1-gen-2000 Nowaczyk, Mj; Huggins, Mj; Tomkins, Dj; Rossi, Elena; Ramsay, Ja; Woulfe, J; Scherer, Sw; Belloni, E.
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis. 1-gen-2000 Scappaticci, MARIA ASSUNTA; Danesino, Cesare; Rossi, Elena; Klersy, C; Fiori, Gm; Clementi, R; Spica Russotto, V; Bossi, G; Aricò, M.
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langherans cell histiocytosis 1-gen-2000 Danesino, Cesare; Scappaticci, MARIA ASSUNTA; Rossi, Elena; Klersy, C; Fiori, Gm; Clementi, Rita; Russotto, Vs; Bossi, G; Aricr, M.
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects. 1-gen-2000 Giglio, S.; Graw, S. L.; Gimelli, G.; Pirola, B.; Varone, P.; Voullaire, L.; Lerzo, F.; Rossi, Elena; Dellavecchia, C.; Bonaglia, M. C.; Digilio, M. C.; Giannotti, A.; Marino, B.; Carrozzo, R.; Korenberg, J. R.; Danesino, Cesare; Sujansky, E.; Dallapiccola, B.; Zuffardi, Orsetta
Inverted duplications are recurrent rearrangements always associated with a distal deletion. Description of a new case involving 2q 1-gen-2000 Bonaglia, M. C.; Giorda, R.; Poggi, G.; Raggi, M. E.; Rossi, Elena; Baroncini, A.; Giglio, S.; Borgatti, R.; Zuffardi, Orsetta
Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group. 1-gen-2000 Scappaticci, MARIA ASSUNTA; Danesino, Cesare; Rossi, Elena; Klersy, C.; Fiori, G. M.; Clementi, Rita; Russotto, V. S.; Bossi, G.; Arico, M.
Case of Myhre syndrome with autism and peculiar skin histological findings. 1-gen-2001 Titomanlio, L; Marzano, Mg; Rossi, Elena; D'Armiento, M; DE BRASI, D; Vega, Gr; Andreucci, Mv; Orsini, Av; Santoro, L; Sebastio, G.
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter. 1-gen-2001 DE BRASI, D; Rossi, Elena; Giglio, S; D'Agostino, A; Titomanlio, L; Farina, V; Andria, G; Sebastio, G.
Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations 1-gen-2001 Rossi, Elena; Piccini, F.; Zollino, M.; Neri, G.; Caselli, D.; Tenconi, R.; Castellan, C.; Carrozzo, R.; Danesino, Cesare; Zuffardi, Orsetta; Ragusa, A.; Castiglia, L.; Galesi, O.; Greco, D.; Romano, C.; Pierluigi, M.; Perfumo, C.; DI ROCCO, M.; Faravelli, F.; DAGNA BRICARELLI, F.; Bonaglia, M.; Bedeschi, M. F.; Borgatti, R.
Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR). 1-gen-2002 Meloni, I; Vitelli, F; Pucci, L; Lowry, Rb; Tonlorenzi, R; Rossi, Elena; Ventura, M; Rizzoni, G; Kashtan, Ce; Pober, B; Renieri, A.
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions. 1-gen-2002 Concolino, D; Iembo, Ma; Rossi, Elena; Giglio, S; Coppola, G; MIRAGLIA DEL GIUDICE, E; Strisciuglio, P.
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. 1-gen-2003 Zollino, M.; Colosimo, C.; Zuffardi, Orsetta; Rossi, Elena; Tosolini, A.; Walsh, C. A.; Neri, G.
Mostrati risultati da 21 a 40 di 84
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