Sfoglia per Autore
Recenti acquisizioni sulla genetica delle cardiopatie congenite
1994-01-01 Dallapiccola, B; Mingarelli, R; Amati, F; Mari, A; Novelli, G
Le Basi Biologiche
1994-01-01 Dallapiccola, B; Mingarelli, R; Mari, A; Amati, F; Giannotti, A; Digilio, Mc; Novelli, G
Advances in molecular analysis of congenital heart defects
1995-01-01 Dallapiccola, B; Amati, F; Gennarelli, M; Mari, A; Novelli, G
Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p
1995-01-01 Amati, F; Mari, A; Mingarelli, R; Gennarelli, M; Digilio, Mc; Giannotti, A; Marino, B; Novelli, G; Dallapiccola, B
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
1995-01-01 Amati, F; Mari, A; Digilio, Mc; Mingarelli, R; Marino, B; Giannotti, A; Novelli, G; Dallapiccola, B
Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome
1995-01-01 Mari, A; Amati, F; Mingarelli, R; Giannotti, A; Sebastio, G; Colloridi, V; Novelli, G; Dallapiccola, B
Isolated conotruncal heart defects are really related to microdeletion of chromosome 22q11?
1996-01-01 Digilio, M; Marino, B; Mingarelli, R; Novelli, G; Amati, F; Mari, A; Giannotti, A; Dallapiccola, B
The search for hemizyosity at 22q11 in patients with isolated cleft palate
1996-01-01 Mingarelli, R; Digilio, M; Mari, A; Amati, F; Standoli, L; Giannotti, A; Novelli, G; Dallapiccola, B
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome
1996-04-01 Pizzuti, A; Novelli, G; Mari, A; Ratti, A; Colosimo, A; Amati, F; Penso, D; Sangiuolo, Fc; Calabrese, G; Palka, G; Silani, V; Gennarelli, M; Mingarelli, R; Scarlato, G; Scambler, P; Dallapiccola, B
cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene
1996-07-01 Pizzuti, A; Amati, F; Calabrese, G; Mari, A; Colosimo, A; Silani, V; Giardino, L; Ratti, A; Penso, D; Calzà, L; Palka, G; Scarlato, G; Novelli, G; Dallapiccola, B
The molecular genetics of the DiGeorge syndrome
1997-01-01 Novelli, G; Amati, F; Mari, A; Conti, E; Bengala, M; Telez Sedano, M; Colosimo, A; Sangiuolo, Fc; Scarpino, S; Novelli, A; Sabani, M; Caiola, A; Mingarelli, R; Pizzuti, A; Dallapiccola, B
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome
1997-02-01 Pizzuti, A; Novelli, G; Ratti, A; Amati, F; Mari, A; Calabrese, G; Nicolis, S; Silani, V; Marino, B; Scarlato, G; Ottolenghi, S; Dallapiccola, B
A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region
1998-01-01 Mari, A; Amati, F; Conti, E; Bengala, M; Novelli, G; Dallapiccola, B
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L)
1998-03-09 Novelli, G; Mari, A; Amati, F; Colosimo, A; Sangiuolo, Fc; Bengala, M; Conti, E; Ratti, A; Bordoni, R; Pizzuti, A; Baldini, A; Crinelli, R; Pandolfi, F; Magnani, M; Dallapiccola, B
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11 [1]
1999-01-01 Wadey, R; Mckie, J; Papapetrou, C; Sutherland, H; Lohman, F; Osinga, J; Frohn, I; Hofstra, R; Meijers, C; Amati, F; Conti, E; Pizzuti, A; Dallapiccola, B; Novelli, G; Scambler, P
Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome
1999-01-01 Pizzuti, A; Novelli, G; Ratti, A; Amati, F; Bordoni, R; Mandich, P; Bellone, E; Conti, E; Bengala, M; Mari, A; Silani, V; Dallapiccola, B
UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?
1999-07-01 Novelli, G; Amati, F; Dallapiccola, B
Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome
1999-12-01 Amati, F; Conti, E; Novelli, A; Bengala, M; Diglio, M; Marino, B; Giannotti, A; Gabrielli, O; Novelli, G; Dallapiccola, B
Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22
2000-01-01 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
Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome
2000-01-01 Novelli, G; Amati, F; Dallapiccola, B
Data di pubblicazione | Titolo | Autore(i) | Tipo | File |
---|---|---|---|---|
1-gen-1994 | Recenti acquisizioni sulla genetica delle cardiopatie congenite | Dallapiccola, B; Mingarelli, R; Amati, F; Mari, A; Novelli, G | Articolo su rivista | |
1-gen-1994 | Le Basi Biologiche | Dallapiccola, B; Mingarelli, R; Mari, A; Amati, F; Giannotti, A; Digilio, Mc; Novelli, G | Contributo in libro | |
1-gen-1995 | Advances in molecular analysis of congenital heart defects | Dallapiccola, B; Amati, F; Gennarelli, M; Mari, A; Novelli, G | Articolo su rivista | |
1-gen-1995 | Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p | Amati, F; Mari, A; Mingarelli, R; Gennarelli, M; Digilio, Mc; Giannotti, A; Marino, B; Novelli, G; Dallapiccola, B | Articolo su rivista | |
1-gen-1995 | 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot | Amati, F; Mari, A; Digilio, Mc; Mingarelli, R; Marino, B; Giannotti, A; Novelli, G; Dallapiccola, B | Articolo su rivista | |
1-gen-1995 | Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome | Mari, A; Amati, F; Mingarelli, R; Giannotti, A; Sebastio, G; Colloridi, V; Novelli, G; Dallapiccola, B | Articolo su rivista | |
1-gen-1996 | Isolated conotruncal heart defects are really related to microdeletion of chromosome 22q11? | Digilio, M; Marino, B; Mingarelli, R; Novelli, G; Amati, F; Mari, A; Giannotti, A; Dallapiccola, B | Articolo su rivista | |
1-gen-1996 | The search for hemizyosity at 22q11 in patients with isolated cleft palate | Mingarelli, R; Digilio, M; Mari, A; Amati, F; Standoli, L; Giannotti, A; Novelli, G; Dallapiccola, B | Articolo su rivista | |
1-apr-1996 | Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome | Pizzuti, A; Novelli, G; Mari, A; Ratti, A; Colosimo, A; Amati, F; Penso, D; Sangiuolo, Fc; Calabrese, G; Palka, G; Silani, V; Gennarelli, M; Mingarelli, R; Scarlato, G; Scambler, P; Dallapiccola, B | Articolo su rivista | |
1-lug-1996 | cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene | Pizzuti, A; Amati, F; Calabrese, G; Mari, A; Colosimo, A; Silani, V; Giardino, L; Ratti, A; Penso, D; Calzà, L; Palka, G; Scarlato, G; Novelli, G; Dallapiccola, B | Articolo su rivista | |
1-gen-1997 | The molecular genetics of the DiGeorge syndrome | Novelli, G; Amati, F; Mari, A; Conti, E; Bengala, M; Telez Sedano, M; Colosimo, A; Sangiuolo, Fc; Scarpino, S; Novelli, A; Sabani, M; Caiola, A; Mingarelli, R; Pizzuti, A; Dallapiccola, B | Articolo su rivista | |
1-feb-1997 | UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome | Pizzuti, A; Novelli, G; Ratti, A; Amati, F; Mari, A; Calabrese, G; Nicolis, S; Silani, V; Marino, B; Scarlato, G; Ottolenghi, S; Dallapiccola, B | Articolo su rivista | |
1-gen-1998 | A highly polymorphic CA/GT repeat (LIMK1GT) within the Williams syndrome critical region | Mari, A; Amati, F; Conti, E; Bengala, M; Novelli, G; Dallapiccola, B | Articolo su rivista | |
9-mar-1998 | Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L) | Novelli, G; Mari, A; Amati, F; Colosimo, A; Sangiuolo, Fc; Bengala, M; Conti, E; Ratti, A; Bordoni, R; Pizzuti, A; Baldini, A; Crinelli, R; Pandolfi, F; Magnani, M; Dallapiccola, B | Articolo su rivista | |
1-gen-1999 | Mutations of UFD1L are not responsible for the majority of cases of DiGeorge syndrome/velocardiofacial syndrome without deletions within chromosome 22q11 [1] | Wadey, R; Mckie, J; Papapetrou, C; Sutherland, H; Lohman, F; Osinga, J; Frohn, I; Hofstra, R; Meijers, C; Amati, F; Conti, E; Pizzuti, A; Dallapiccola, B; Novelli, G; Scambler, P | Articolo su rivista | |
1-gen-1999 | Isolation and characterization of a novel transcript embedded within HIRA, a gene deleted in DiGeorge syndrome | Pizzuti, A; Novelli, G; Ratti, A; Amati, F; Bordoni, R; Mandich, P; Bellone, E; Conti, E; Bengala, M; Mari, A; Silani, V; Dallapiccola, B | Articolo su rivista | |
1-lug-1999 | UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes? | Novelli, G; Amati, F; Dallapiccola, B | Articolo su rivista | |
1-dic-1999 | Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome | Amati, F; Conti, E; Novelli, A; Bengala, M; Diglio, M; Marino, B; Giannotti, A; Gabrielli, O; 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-2000 | Individual haploinsufficient loci and the complex phenotype of DiGeorge syndrome | Novelli, G; Amati, F; Dallapiccola, B | Articolo su rivista |
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