Sfoglia per Rivista HUMAN GENETICS
A 45, X male with a Yp/18 translocation.
1986-01-01 Maserati, Emanuela; Waibel, F.; Weber, B.; Fraccaro, M.; Gal, A.; Pasquali, Francesco; Schempp, W.; Scherer, G.; Vaccaro, R.; Weissenbach, J.; Wolf, U.
A highly conserved sequence on the short arm of chromosome 7 detects multiple polymorphisms.
1988-01-01 Bardoni, B.; Guioli, S.; Maserati, Emanuela; Maraschio, P.; Camerino, G.
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.
2012-01-01 Williamson, Sl; Giudici, L; KILSTRUP-NIELSEN, Charlotte; Gold, W; Pelka, Gj; Tam, Pp; Grimm, A; Prodi, D; Landsberger, Nicoletta; Christodoulou, J.
A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus.
1979-01-01 Simoni, G; Montali, E; Rossella, F; Dalpra, L; LO CURTO, Francesco
Cd bands and centromeric function in dicentric chromosomes
1980-01-01 Maraschio, P; Zuffardi, O; LO CURTO, Francesco
Chromosomal aberrations in lymphocyte and fibroblast cultures of patients with the sporadic type of Kaposi sarcoma
1986-01-01 Scappaticci, S.; Cerimele, D.; Cottoni, F.; Pasquali, Francesco; Fraccaro, M.
Cloning a new human gene from chromosome 21q22.3 encoding aglutamic acid-rich protein expressed in heart and skeletal muscle
1997-01-01 Scartezzini, P; Egeo, A; Colella, S; Fumagalli, P; Arrigo, P; Nizetic, D; Taramelli, Roberto; Rasore Quartino, A.
Correlation between the numbers of sex chromosomes and the H-Y antigen titer.
1982-01-01 Fraccaro, M; Mayerova, A; Wolf, U; Buhler, E; Gebauer, J; Gilgenkrantz, S; Lindsten, J; LO CURTO, Francesco; Ritzn, .
Cytogenetic analysis reveals clonal proliferation of smooth muscle cells in atherosclerotic plaques
1991-01-01 Casalone, R. F.; Granata, P; Minelli, E; Portentoso, P; Giudici, A; Righi, R; Castelli, Patrizio; Socrate, A; Frigerio, B.
Definition of an acquired 11q deletion in a tumorigenic human monocytic cell line.
1990-01-01 Maserati, Emanuela; Romitti, L.; Carrozza, M. L.; Lombardo, A.; Revoltella, R.
Duplication of the short arms of chromosome 9. Analysis of five cases
1982-01-01 Cuoco, C.; Gimelli, G.; Pasquali, Francesco; Poloni, L.; Zuffardi, O.; Alicata, P.; Battaglino, G.; Bernardi, F.; Cerone, R.; Coltellessa, M.; Ghidoni, A.; Motta, S.
IL1B gene promoter haplotype pairs predict clinical levels of interleukin-1beta and C-reactive protein.
2008-01-01 Rogus, J; Beck, Jd; Offenbacher, S; Huttner, K; Iacoviello, Licia; Latella, Mc; de Gaetano, M; Wang, Hy; Kornman, Ks; Duff, Gw
Indirect immunofluorescence of inactive centromeres as indicator of centromeric function.
1986-01-01 Peretti, D; Maraschio, P; Lambiase, S; LO CURTO, Francesco; Zuffardi, O.
Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele
1990-01-01 Taramelli, Roberto; Pontoglio, M; Candiani, G; Ottolenghi, S; Dieplinger, H; Catapano, A; Albers, J; Vergani, C; Mclean, J.
Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure
2000-01-01 Marozzi, A; Manfredini, E; Tibiletti, Mg; Furlan, Daniela; Villa, N; Vegetti, W; Crosignani, Pg; Ginelli, E; Meneveri, R; Dalpra, L.
Partial trisomy 1 due to 1/17 translocation in Ph'-positive Chronic Myelocytic leukemia
1979-01-01 Pasquali, Francesco; Francesconi, D.; Casalone, R.; Ippoliti, G.
Pathogenetic significance of "pure" monosomy 7 in myeloproliferative disorders. Analysis of 14 cases
1982-01-01 Pasquali, Francesco; Bernasconi, P.; Casalone, R.; Fraccaro, M.; Bernasconi, C.; Lazzarino, M.; Morra, E.; Alessandrino, E. P.; Marchi, M. A.; Sanger, R.
Shortdirect repeats at the breakpoints of a novel large deletion in the CFTR genesuggest a likely slipped mispairing mechanism
1996-01-01 Magnani, C; Cremonesi, L; Giunta, A; Magnaghi, P; Taramelli, Roberto; Ferrari, M.
The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families
1983-01-01 Iselius, L.; Lindsten, J.; Aurias, A.; Fraccaro, M.; Pasquali, Francesco
The 11q;22q translocation: a european collaborative analysis of 43 cases
1980-01-01 Fraccaro, M.; Lindsten, J.; Ford, C.; Iselius, L.; Pasquali, Francesco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A 45, X male with a Yp/18 translocation. | 1-gen-1986 | Maserati, Emanuela; Waibel, F.; Weber, B.; Fraccaro, M.; Gal, A.; Pasquali, Francesco; Schempp, W.; Scherer, G.; Vaccaro, R.; Weissenbach, J.; Wolf, U. | |
| A highly conserved sequence on the short arm of chromosome 7 detects multiple polymorphisms. | 1-gen-1988 | Bardoni, B.; Guioli, S.; Maserati, Emanuela; Maraschio, P.; Camerino, G. | |
| A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain. | 1-gen-2012 | Williamson, Sl; Giudici, L; KILSTRUP-NIELSEN, Charlotte; Gold, W; Pelka, Gj; Tam, Pp; Grimm, A; Prodi, D; Landsberger, Nicoletta; Christodoulou, J. | |
| A woman carrier of two apparently unrelated reciprocal translocations: prenatal diagnosis of normal karyotype in the foetus. | 1-gen-1979 | Simoni, G; Montali, E; Rossella, F; Dalpra, L; LO CURTO, Francesco | |
| Cd bands and centromeric function in dicentric chromosomes | 1-gen-1980 | Maraschio, P; Zuffardi, O; LO CURTO, Francesco | |
| Chromosomal aberrations in lymphocyte and fibroblast cultures of patients with the sporadic type of Kaposi sarcoma | 1-gen-1986 | Scappaticci, S.; Cerimele, D.; Cottoni, F.; Pasquali, Francesco; Fraccaro, M. | |
| Cloning a new human gene from chromosome 21q22.3 encoding aglutamic acid-rich protein expressed in heart and skeletal muscle | 1-gen-1997 | Scartezzini, P; Egeo, A; Colella, S; Fumagalli, P; Arrigo, P; Nizetic, D; Taramelli, Roberto; Rasore Quartino, A. | |
| Correlation between the numbers of sex chromosomes and the H-Y antigen titer. | 1-gen-1982 | Fraccaro, M; Mayerova, A; Wolf, U; Buhler, E; Gebauer, J; Gilgenkrantz, S; Lindsten, J; LO CURTO, Francesco; Ritzn, . | |
| Cytogenetic analysis reveals clonal proliferation of smooth muscle cells in atherosclerotic plaques | 1-gen-1991 | Casalone, R. F.; Granata, P; Minelli, E; Portentoso, P; Giudici, A; Righi, R; Castelli, Patrizio; Socrate, A; Frigerio, B. | |
| Definition of an acquired 11q deletion in a tumorigenic human monocytic cell line. | 1-gen-1990 | Maserati, Emanuela; Romitti, L.; Carrozza, M. L.; Lombardo, A.; Revoltella, R. | |
| Duplication of the short arms of chromosome 9. Analysis of five cases | 1-gen-1982 | Cuoco, C.; Gimelli, G.; Pasquali, Francesco; Poloni, L.; Zuffardi, O.; Alicata, P.; Battaglino, G.; Bernardi, F.; Cerone, R.; Coltellessa, M.; Ghidoni, A.; Motta, S. | |
| IL1B gene promoter haplotype pairs predict clinical levels of interleukin-1beta and C-reactive protein. | 1-gen-2008 | Rogus, J; Beck, Jd; Offenbacher, S; Huttner, K; Iacoviello, Licia; Latella, Mc; de Gaetano, M; Wang, Hy; Kornman, Ks; Duff, Gw | |
| Indirect immunofluorescence of inactive centromeres as indicator of centromeric function. | 1-gen-1986 | Peretti, D; Maraschio, P; Lambiase, S; LO CURTO, Francesco; Zuffardi, O. | |
| Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele | 1-gen-1990 | Taramelli, Roberto; Pontoglio, M; Candiani, G; Ottolenghi, S; Dieplinger, H; Catapano, A; Albers, J; Vergani, C; Mclean, J. | |
| Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure | 1-gen-2000 | Marozzi, A; Manfredini, E; Tibiletti, Mg; Furlan, Daniela; Villa, N; Vegetti, W; Crosignani, Pg; Ginelli, E; Meneveri, R; Dalpra, L. | |
| Partial trisomy 1 due to 1/17 translocation in Ph'-positive Chronic Myelocytic leukemia | 1-gen-1979 | Pasquali, Francesco; Francesconi, D.; Casalone, R.; Ippoliti, G. | |
| Pathogenetic significance of "pure" monosomy 7 in myeloproliferative disorders. Analysis of 14 cases | 1-gen-1982 | Pasquali, Francesco; Bernasconi, P.; Casalone, R.; Fraccaro, M.; Bernasconi, C.; Lazzarino, M.; Morra, E.; Alessandrino, E. P.; Marchi, M. A.; Sanger, R. | |
| Shortdirect repeats at the breakpoints of a novel large deletion in the CFTR genesuggest a likely slipped mispairing mechanism | 1-gen-1996 | Magnani, C; Cremonesi, L; Giunta, A; Magnaghi, P; Taramelli, Roberto; Ferrari, M. | |
| The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families | 1-gen-1983 | Iselius, L.; Lindsten, J.; Aurias, A.; Fraccaro, M.; Pasquali, Francesco | |
| The 11q;22q translocation: a european collaborative analysis of 43 cases | 1-gen-1980 | Fraccaro, M.; Lindsten, J.; Ford, C.; Iselius, L.; Pasquali, Francesco |
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