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Mostrati risultati da 1 a 20 di 95
Data di pubblicazione Titolo Autore(i) Tipo File
1-gen-1995 Simultaneous detection of delta F508, G542X, N1303K, G551D, and 1717-1G-->A cystic fibrosis alleles by a multiplex DNA enzyme immunoassay Sangiuolo, Fc; Maceratesi, P; Mesoraca, A; Botta, A; Cavicchini, A; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-1997 Assignment of the gene for a ubiquitin fusion degradation protein (Ufd1l) to mouse chromosome 16B1-B4, syntenic with the Tuple1 gene Botta, A; Jurecic, V; Pizzuti, A; Novelli, G; Dallapiccola, B; Baldini, A Articolo su rivista
1-dic-1997 Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation Botta, A; Lindsay, E; Jurecic, V; Baldini, A Articolo su rivista
1-gen-1998 Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online Sangiuolo, Fc; Botta, A; Mesoraca, A; Servidei, S; Merlini, L; Fratta, G; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-1999 Searching for psoriasis susceptibility genes in Italy: Genome scan and evidence for a new locus on chromosome 1 Capon, F; Novelli, G; Semprini, S; Clementi, M; Nudo, M; Vultaggio, P; Mazzanti, C; Gobello, T; Botta, A; Fabrizi, G; Dallapiccola, B Articolo su rivista
1-giu-1999 Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes Botta, A; Novelli, G; Mari, A; Novelli, A; Sabani, M; Korenberg, J; Osborne, L; Digilio, M; Giannotti, A; Dallapiccola, B Articolo su rivista
23-set-1999 Congenital heart disease in mice deficient for the DiGeorge Syndrome region Lindsay, E; Botta, A; Jurecic, V; Rivera, S; Cheah, Y; Bradley, A; Baldini, A Articolo su rivista
15-dic-1999 Expression analysis and protein localization of the human HPC-1/syntaxin 1A, a gene deleted in Williams syndrome Botta, A; Sangiuolo, Fc; Calza, L; Giardino, L; Potenza, S; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-2000 Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22 De Luca, A; Pasini, A; Amati, F; Botta, A; Spalletta, G; Alimenti, S; Caccamo, F; Conti, E; Trakalo, J; Macciardi, F; Macciardi, B; Novelli, G Intervento a convegno
1-gen-2001 Association study of a promoter polymorphism of UFD1L gene with schizophrenia De Luca, A; Pasini, A; Amati, F; Botta, A; Spalletta, G; Alimenti, S; Caccamo, F; Conti, E; Trakalo, J; Macciardi, F; DALLA PICCOLA, B; Novelli, G Articolo su rivista
1-gen-2001 Cloning and molecular characterization of three ubiquitin fusion degradation 1 (Ufd1) ortholog genes from Xenopus laevis, Gallus gallus and Drosophila melanogaster Ratti, A; Amati, F; Bozzali, M; Conti, E; Sangiuolo, Fc; Berloco, M; Palumbo, G; Botta, A; Pizzuti, A; Novelli, G; Dallapiccola, B Articolo su rivista
1-gen-2001 Letter to the editor: exclusion of the elastin gene in the pathogenesis of Costello syndrome [4] Tandoi, C; Botta, A; Fini, G; Sangiuolo, Fc; Novelli, G; Ricci, R; Zampino, G; Anichini, C; Dallapiccola, B Articolo su rivista
1-gen-2001 Causes of the phenotype-genotype dissociation in DiGeorge syndrome: Clues from mouse models Botta, A; Amati, F; Novelli, G Articolo su rivista
22-gen-2001 Letter to the editor: Exclusion of the elastin gene in the pathogenesis of Costello syndrome Tandoi, C; Botta, A; Fini, G; Sangiuolo, Fc; Novelli, G; Ricci, R; Zampino, G; Anichini, C; Dallapiccola, B Articolo su rivista
5-set-2001 Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L) Botta, A; Tandoi, C; Fini, G; Calabrese, G; Dallapiccola, B; Novelli, G Articolo su rivista
1-gen-2002 Evidence for differential S100 gene over-expression in psoriatic patients from genetically heterogeneous pedigrees Semprini, S; Capon, F; Tacconelli, A; Giardina, E; Orecchia, A; Mingarelli, R; Gobello, T; Zambruno, G; Botta, A; Fabrizi, G; Novelli, G Articolo su rivista
1-gen-2002 Functional characterization of the 5′ flanking region of human Ubiquitin Fusion Degradation 1 Like gene (UFD1L) Amati, F; Conti, E; Botta, A; Amicucci, P; Dallapiccola, B; Novelli, G Articolo su rivista
1-gen-2004 A long PCR-based molecular protocol for detecting normal and expanded ZNF9 alleles in myotonic dystrophy type 2 Bonifazi, E; Vallo, L; Giardina, E; Botta, A; Novelli, G Articolo su rivista
1-mar-2004 Expression analysis of the gene encoding for the U-box-type ubiquitin ligase UBE4A in human tissues. Contino, G; Amati, F; Pucci, S; Pontieri, E; Picchiorri, F; Novelli, A; Botta, A; Mango, R; Nardone, A; Sangiuolo, Fc; Citro, G; Spagnoli, Lg; Novelli, G Articolo su rivista
1-gen-2005 Progress in Gene Therapy Research (Horizons in Cancer Research; Vol. 20) Del Vecchio, F; Botta, A; Spitalieri, P; Filareto, A; Sangiuolo, Fc; Novelli, G Contributo in libro
Mostrati risultati da 1 a 20 di 95
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