Università degli Studi di Cagliari
Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia
2004-01-01 Giorda, R; Cerritello, A; Bonaglia, Mc; Bova, S; Lanzi, G; Repetti, E; Giglio, SABRINA RITA; Baschirotto, C; Pramparo, T; Avolio, L; Bragheri, R; Maraschio, P; Zuffardi, O.
Common Long Human Inversion Polymorphism on Chromosome 8p
2003-01-01 Broman, Kw; Matsumoto, N; Giglio, S; Martin, Cl; Roseberry, Ja; Zuffardi, O; Ledbetter, Dh; Weber, Jl
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities
2003-01-01 Giglio, S.
Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation
2003-01-01 D., Concolino; M. A., Iembo; M. T., Moricca; P., Strisciuglio; R., Marotta; E., Rossi; Giglio, SABRINA RITA
Genomic architecture and chromosome rearrangements
2003-01-01 Zuffardi, O; Giglio, SABRINA RITA
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
2002-01-01 Giglio, SABRINA RITA; Calvari, V; Gregato, G; Gimelli, G; Camanini, S; Giorda, R; Ragusa, A; Guerneri, S; Selicorni, A; Stumm, M; Tonnies, H; Ventura, M; Zollino, M; Neri, G; Barber, J; Wieczorek, D; Rocchi, M; Zuffardi, O.
Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
2002-01-01 Giglio, SABRINA RITA; Calvari, V; Gregato, G; Gimelli, G; Camanini, S; Giorda, R; Ragusa, A; Guerneri, S; Selicorni, A; Stumm, M; Tonnies, H; Ventura, M; Zollino, M; Neri, G; Barber, J; Wieczorek, D; Rocchi, M; Zuffardi, O.
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions
2002-01-01 Concolino, D; Iembo, Ma; Rossi, E; Giglio, SABRINA RITA; Coppola, G; MIRAGLIA DEL GIUDICE, E; Strisciuglio, P.
Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)
2002-01-01 Gimelli, G; Giglio, SABRINA RITA; Zuffardi, O; Alhonen, L; Suppola, S; Cusano, R; LO NIGRO, C; Gatti, R; Ravazzolo, R; Seri, M.
Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter
2001-01-01 DE BRASI, D; Rossi, E; Giglio, SABRINA RITA; D'Agostino, A; Titomanlio, L; Farina, V; Andria, G; Sebastio, G.
Olfactory receptor gene clusters mediate common chromosome rearrangements
2001-01-01 Giglio, S; Matsumoto, N; Fantes, J; Calvari, V; Broman, Kw; Weber, Jl; Ledbetter, Dh; Zuffardi, O
Olfactory receptor-gene clusters, genomic inversion polymorphisms, and common chromosome rearrangements
2001-01-01 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.
Inverted low copy repeats and a common 8p23 inversion polymorphism
2001-01-01 Matsumoto, N; Harada, N; Giglio, SABRINA RITA; Kuroiwa, K; Ledbetter, Dh; Niikawa, N.
New syndrome of mental retardation, Robin sequence, and brachydactyly
2001-01-01 Gurrieri, F; Steindl, K; Giglio, SABRINA RITA; Neri, G.
Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects
2000-01-01 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
Genomic organization and chromosomal localization of the mouse Connexin36 (mCx36) gene
2000-01-01 Cicirata, F; Parenti, R; Spinella, F; Giglio, SABRINA RITA; Tuorto, F; Zuffardi, O; Gulisano, M.
Translocation (8;16) in a patient with acute myelomonocytic leukemia, occurring after treatment with fludarabine for a low-grade non-Hodgkin's lymphoma
2000-01-01 Bernasconi, P; Orlandi, E; Cavigliano, P; Calatroni, S; Boni, M; Astori, C; Pagnucco, G; Giglio, SABRINA RITA; Caresana, M; Lazzarino, M; Bernasconi, C.
Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements
2000-01-01 Giglio, SABRINA RITA; B., Pirola; G., Arrigo; P., Dagrada; B., Bardoni; F., Bernardi; G., Russo; L., Argentiero; A., Forabosco; R., Carrozzo; O., Zuffardi
Assignment of NUFIP1 (Nuclear FMRP Interacting Protein 1) gene to chromosome and assignment of a pseudogene to chromosome 6q12
2000-01-01 Bardoni, B; Giglio, SABRINA RITA; Schenck, A; Rocchi, M; Mandel, J. L.
CENP-G in neocentromeres and inactive centromeres
2000-01-01 Gimelli, G; Zuffardi, O; Giglio, SABRINA RITA; Zeng, C. AND HE D.
Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q
2000-01-01 M. C., Bonaglia; R., Giorda; G., Poggi; M. E., Raggi; E., Rossi; A., Baroncini; Giglio, SABRINA RITA; R., Borgatti; O., Zuffardi
Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes
1999-01-01 Fogli, A; Giglio, SABRINA RITA; Arrigo, G; LO NIGRO, C; Zollo, M; Viggiano, L; Rocchi, M; Archidiacono, N; Zuffardi, O; Carrozzo, R.
Transmission of a fully functional human neocentromere through three generations
1999-01-01 TYLER SMITH, C; Gimelli, G; Giglio, SABRINA RITA; Floridia, G; Pandya, A; Terzoli, G; Warburton, Pe; Earnshaw, Wc; Zuffardi, O.
GCMB, a second human homolog of the fly glide/gcm gene
1999-01-01 Kammerer, M; Pirola, B; Giglio, SABRINA RITA; Giangrande, A.
Haploinsufficiency for a gene in a 8 cM region at 6q24-25 results in agenesis of corpus callosum with Probst bundles
1998-01-01 Pirola, B; Bortotto, L; Giglio, SABRINA RITA; Piovan, E; Janes, A; Guerrini, Renzo; Zuffardi, O.
Structure and mutation analysis of the glycogen storage disease type 1b gene
1998-01-01 P., Marcolongo; V., Barone; G., Priori; B., Pirola; Giglio, SABRINA RITA; G., Biasucci; E., Zammarchi; G., Parenti; A., Burchell; A., Benedetti; V., Sorrentino
Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains
1998-01-01 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
Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene
1998-01-01 A., Egeo; M., Mazzocco; P., Arrigo; J. M., Vidal Taboada; R., Oliva; B., Pirola; Giglio, SABRINA RITA; A., Rasore Quartino; P., Scartezzini
A novel pseudoautosomal gene encoding a putative GTP-bindig protein resides in the vicinity of the Xp/Yp telomere
1998-01-01 Gianfrancesco, F; Esposito, T; Montanini, L; Ciccodicola, A; Munn, S; Mazzarella, R; Rao, E; Giglio, SABRINA RITA; Rappold, G; Forabosco, A.
Agenesis of the corpus callosum with Probst bundles owing to haploinsufficiency for a gene in an 8 cM region of 6q25
1998-01-01 B., Pirola; L., Bortotto; Giglio, SABRINA RITA; E., Piovan; A., Janes; Guerrini, Renzo; O., Zuffardi
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?
1997-01-01 M., Piantanida; C., Dellavecchia; G., Floridia; Giglio, SABRINA RITA; H., Hoeller; B., Dordi; C., Danesino; A., Schinzel; O., Zuffardi
Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila.
1996-01-01 Banfi, S.; Borsani, G.; Rossi, E; Bernard, L; Rubboli, F; Marchitiello, A; Guffanti, A; Giglio, S; Coluccia, Elisabetta; Zollo, M; Zuffardi, O; Ballabio, A.
Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna.
1996-01-01 Giglio, S; Bardoni, B; Coluccia, Elisabetta; Gimelli, G; Cohen, A; Bortotto, L; Piovan, E; Bernardi, F; Zuffardi, O.
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
1996-01-01 Banfi, S; Borsani, G; Rossi, E; Bernard, L; Guffanti, A; Rubboli, F; Marchitiello, A; Giglio, S; Coluccia, Elisabetta; Zollo, M; Zuffardi, O; Ballabio, A.
Jumping translocations in acute lymphoblastic leukemia
1995-01-01 L., Seghezzi; P., Addis; Giglio, SABRINA RITA; R., Invernizzi; E., Maserati
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia | 1-gen-2004 | Giorda, R; Cerritello, A; Bonaglia, Mc; Bova, S; Lanzi, G; Repetti, E; Giglio, SABRINA RITA; Baschirotto, C; Pramparo, T; Avolio, L; Bragheri, R; Maraschio, P; Zuffardi, O. | JOURNAL OF MEDICAL GENETICS | - |
| Common Long Human Inversion Polymorphism on Chromosome 8p | 1-gen-2003 | Broman, Kw; Matsumoto, N; Giglio, S; Martin, Cl; Roseberry, Ja; Zuffardi, O; Ledbetter, Dh; Weber, Jl | - | The Institute of Mathematical Statistics Lecture Notes–Monograph Series |
| De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities | 1-gen-2003 | Giglio, S. | AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS | - |
| Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation | 1-gen-2003 | D., Concolino; M. A., Iembo; M. T., Moricca; P., Strisciuglio; R., Marotta; E., Rossi; Giglio, SABRINA RITA | AMERICAN JOURNAL OF MEDICAL GENETICS | - |
| Genomic architecture and chromosome rearrangements | 1-gen-2003 | Zuffardi, O; Giglio, SABRINA RITA | JOURNAL OF MEDICAL GENETICS | - |
| Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation | 1-gen-2002 | Giglio, SABRINA RITA; Calvari, V; Gregato, G; Gimelli, G; Camanini, S; Giorda, R; Ragusa, A; Guerneri, S; Selicorni, A; Stumm, M; Tonnies, H; Ventura, M; Zollino, M; Neri, G; Barber, J; Wieczorek, D; Rocchi, M; Zuffardi, O. | EUROPEAN JOURNAL OF HUMAN GENETICS | - |
| Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation | 1-gen-2002 | Giglio, SABRINA RITA; Calvari, V; Gregato, G; Gimelli, G; Camanini, S; Giorda, R; Ragusa, A; Guerneri, S; Selicorni, A; Stumm, M; Tonnies, H; Ventura, M; Zollino, M; Neri, G; Barber, J; Wieczorek, D; Rocchi, M; Zuffardi, O. | AMERICAN JOURNAL OF HUMAN GENETICS | - |
| Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions | 1-gen-2002 | Concolino, D; Iembo, Ma; Rossi, E; Giglio, SABRINA RITA; Coppola, G; MIRAGLIA DEL GIUDICE, E; Strisciuglio, P. | JOURNAL OF MEDICAL GENETICS | - |
| Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD) | 1-gen-2002 | Gimelli, G; Giglio, SABRINA RITA; Zuffardi, O; Alhonen, L; Suppola, S; Cusano, R; LO NIGRO, C; Gatti, R; Ravazzolo, R; Seri, M. | 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 | - |
| 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 | - |
| 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 | - |
| New syndrome of mental retardation, Robin sequence, and brachydactyly | 1-gen-2001 | Gurrieri, F; Steindl, K; Giglio, SABRINA RITA; Neri, G. | AMERICAN JOURNAL OF MEDICAL GENETICS | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| CENP-G in neocentromeres and inactive centromeres | 1-gen-2000 | Gimelli, G; Zuffardi, O; Giglio, SABRINA RITA; Zeng, C. AND HE D. | CHROMOSOMA | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
| Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes? | 1-gen-1997 | M., Piantanida; C., Dellavecchia; G., Floridia; Giglio, SABRINA RITA; H., Hoeller; B., Dordi; C., Danesino; A., Schinzel; O., Zuffardi | HUMAN GENETICS | - |
| Identificazione e caratterizzazione sistematica di cDNA umani e murini omologhi a geni mutanti in Drosophila. | 1-gen-1996 | Banfi, S.; Borsani, G.; Rossi, E; Bernard, L; Rubboli, F; Marchitiello, A; Guffanti, A; Giglio, S; Coluccia, Elisabetta; Zollo, M; Zuffardi, O; Ballabio, A. | - | - |
| Tre casi di disgenesia ovarica associata a delezione Xp11.4 - pter e duplicazione Xq2 - qter de novo, di origine paterna. | 1-gen-1996 | Giglio, S; Bardoni, B; Coluccia, Elisabetta; Gimelli, G; Cohen, A; Bortotto, L; Piovan, E; Bernardi, F; Zuffardi, O. | - | - |
| Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching | 1-gen-1996 | Banfi, S; Borsani, G; Rossi, E; Bernard, L; Guffanti, A; Rubboli, F; Marchitiello, A; Giglio, S; Coluccia, Elisabetta; Zollo, M; Zuffardi, O; Ballabio, A. | NATURE GENETICS | - |
| Jumping translocations in acute lymphoblastic leukemia | 1-gen-1995 | L., Seghezzi; P., Addis; Giglio, SABRINA RITA; R., Invernizzi; E., Maserati | CANCER GENETICS AND CYTOGENETICS | - |
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