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Mostrati risultati da 161 a 180 di 185
Titolo Data di pubblicazione Autore(i) Rivista Editore
Olfactory receptor-gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements 1-gen-2001 Giglio, SABRINA RITA; Broman, Kw; Matsumoto, N; Calvari, V; Gimelli, G; Neumann, T; Ohashi, H; Voullaire, L; Larizza, D; Giorda, R; Weber, Jl; Ledbetter, Dh; Zuffardi, O. AMERICAN JOURNAL OF HUMAN GENETICS -
Inverted low copy repeats and a common 8p23 inversion polymorphism 1-gen-2001 Matsumoto, N; Harada, N; Giglio, SABRINA RITA; Kuroiwa, K; Ledbetter, Dh; Niikawa, N. AMERICAN JOURNAL OF HUMAN GENETICS -
Olfactory receptor gene clusters mediate common chromosome rearrangements 1-gen-2001 Giglio, S; Matsumoto, N; Fantes, J; Calvari, V; Broman, Kw; Weber, Jl; Ledbetter, Dh; Zuffardi, O AMERICAN JOURNAL OF HUMAN GENETICS -
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter 1-gen-2001 DE BRASI, D; Rossi, E; Giglio, SABRINA RITA; D'Agostino, A; Titomanlio, L; Farina, V; Andria, G; Sebastio, G. AMERICAN JOURNAL OF MEDICAL GENETICS -
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements 1-gen-2000 Giglio, SABRINA RITA; B., Pirola; G., Arrigo; P., Dagrada; B., Bardoni; F., Bernardi; G., Russo; L., Argentiero; A., Forabosco; R., Carrozzo; O., Zuffardi EUROPEAN JOURNAL OF HUMAN GENETICS -
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q 1-gen-2000 M. C., Bonaglia; R., Giorda; G., Poggi; M. E., Raggi; E., Rossi; A., Baroncini; Giglio, SABRINA RITA; R., Borgatti; O., Zuffardi EUROPEAN JOURNAL OF HUMAN GENETICS -
CENP-G in neocentromeres and inactive centromeres 1-gen-2000 Gimelli, G; Zuffardi, O; Giglio, SABRINA RITA; Zeng, C. AND HE D. CHROMOSOMA -
Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene 1-gen-2000 Cicirata, F; Parenti, R; Spinella, F; Giglio, SABRINA RITA; Tuorto, F; Zuffardi, O; Gulisano, M. GENE -
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects 1-gen-2000 Giglio, SABRINA RITA; S. L., Graw; G., Gimelli; B., Pirola; P., Varone; L., Voullaire; F., Lerzo; E., Rossi; C., Dellavecchia; M. C., Bonaglia; M. C., Digilio; A., Giannotti; B., Marino; R., Carrozzo; J. R., Korenberg; C., Danesino; E., Sujansky; B., Dallapiccola; O., Zuffardi CIRCULATION -
Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12 1-gen-2000 Bardoni, B; Giglio, SABRINA RITA; Schenck, A; Rocchi, M; Mandel, J. L. CYTOGENETICS AND CELL GENETICS -
Translocation (8;16) in a patient with acute myelomonocytic leukemia, occurring after treatment with fludarabine for a low-grade non-Hodgkin's lymphoma 1-gen-2000 Bernasconi, P; Orlandi, E; Cavigliano, P; Calatroni, S; Boni, M; Astori, C; Pagnucco, G; Giglio, SABRINA RITA; Caresana, M; Lazzarino, M; Bernasconi, C. HAEMATOLOGICA -
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes 1-gen-1999 Fogli, A; Giglio, SABRINA RITA; Arrigo, G; LO NIGRO, C; Zollo, M; Viggiano, L; Rocchi, M; Archidiacono, N; Zuffardi, O; Carrozzo, R. CYTOGENETICS AND CELL GENETICS -
Transmission of a fully functional human neocentromere through three generations 1-gen-1999 TYLER SMITH, C; Gimelli, G; Giglio, SABRINA RITA; Floridia, G; Pandya, A; Terzoli, G; Warburton, Pe; Earnshaw, Wc; Zuffardi, O. AMERICAN JOURNAL OF HUMAN GENETICS -
GCMB, a second human homolog of the fly glide/gcm gene 1-gen-1999 Kammerer, M; Pirola, B; Giglio, SABRINA RITA; Giangrande, A. CYTOGENETICS AND CELL GENETICS -
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere 1-gen-1998 Gianfrancesco, F; Esposito, T; Montanini, L; Ciccodicola, A; Munn, S; Mazzarella, R; Rao, E; Giglio, SABRINA RITA; Rappold, G; Forabosco, A. HUMAN MOLECULAR GENETICS -
Structure and mutation analysis of the glycogen storage disease type 1b gene 1-gen-1998 P., Marcolongo; V., Barone; G., Priori; B., Pirola; Giglio, SABRINA RITA; G., Biasucci; E., Zammarchi; G., Parenti; A., Burchell; A., Benedetti; V., Sorrentino FEBS LETTERS -
Haploinsufficiency for a gene in a 8 cM region at 6q24-25 results in agenesis of corpus callosum with Probst bundles 1-gen-1998 Pirola, B; Bortotto, L; Giglio, SABRINA RITA; Piovan, E; Janes, A; Guerrini, Renzo; Zuffardi, O. JOURNAL OF MEDICAL GENETICS -
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains 1-gen-1998 L., de Conciliis; A., Marchitiello; M. C., Wapenaar; G., Borsani; Giglio, SABRINA RITA; M., Mariani; G. G., Consalez; O., Zuffardi; B., Franco; A., Ballabio; S., Banfi GENOMICS -
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25 1-gen-1998 B., Pirola; L., Bortotto; Giglio, SABRINA RITA; E., Piovan; A., Janes; Guerrini, Renzo; O., Zuffardi JOURNAL OF MEDICAL GENETICS -
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene 1-gen-1998 A., Egeo; M., Mazzocco; P., Arrigo; J. M., Vidal Taboada; R., Oliva; B., Pirola; Giglio, SABRINA RITA; A., Rasore Quartino; P., Scartezzini BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS -
Mostrati risultati da 161 a 180 di 185
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