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The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies
2007-01-01 Panza, E; Gimelli, G; Passalacqua, M; Cohen, A; Gimelli, S; Giglio, SABRINA RITA; Ghezzi, C; Sparatore, B; Heye, B; Zuffardi, O; Rugarli, E; Meitinger, T; Romeo, G; Ravazzolo, R; Seri, M.
A de novo 2q interstitial deletion in a patient with a Turner phenotype
2007-01-01 Giglio, SABRINA RITA; Andreucci, Elena; Ricca, I.; Guarducci, S.; Ricci, U.; Sani, I.; Nanni, L.; Seminara, Salvatore; Genuardi, ; O. Zuffardi, M. Genuardi; O., Zuffardi
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
2007-01-01 De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M. C; Anichini, C; Ferrero, G. B; Silengo, M; Fazzi, E; Zatterale, A; Fischetto, R; Previderé, C; Belli, S; Turci, A; Calabrese, G; Bernardi, F; Meneghelli, E; Riegel, M; Rocchi, M; Guerneri, S; Lalatta, F; Zelante, L; Romano, C; Fichera, M; Mattina, T; Arrigo, G; Zollino, M; Giglio, SABRINA RITA; Lonardo, F; Bonfante, A; Ferlini, A; Cifuentes, F; Van Esch, H; Backx, L; Schinzel, A; Vermeesch, J. R; Zuffardi, O.
13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients
2007-01-01 Ballarati, L; Rossi, E; Bonati, Mt; Gimelli, S; Maraschio, P; Finelli, P; Giglio, SABRINA RITA; Lapi, E; Bedeschi, Mf; Guerneri, S; Arrigo, G; Patricelli, Mg; Mattina, T; Guzzardi, O; Pecile, V; Police, A; Scarano, G; Larizza, L; Zuffardi, O; Giardino, D.
Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
2007-01-01 Giorda, R; Ciccone, R; Gimelli, G; Pramparo, T; Beri, S; Bonaglia, Mc; Giglio, SABRINA RITA; Genuardi, M; Argente, J; Rocchi, M; Zuffardi, O.
Inversion Chromosomes
2006-01-01 Zuffardi, O; Ciccone, R; Giglio, S; Pramparo, T
8.5 Mb deletion at distal 5p in a male ascertained for azoospermia
2005-01-01 Elena, Rossi; Manuela de, Gregori; Maria Grazia, Patricelli; Tiziano, Pramparo; Luisa, Argentiero; Giglio, SABRINA RITA; Katiuscia, Sosta; Giovanni, Foresti; Orsetta, Zuffardi
Mosaic variegated aneuploidy: two new cases including a prenatal one
2005-01-01 Arrigo, G; Gimelli, S; Illekova, Z; Giglio, S; Zuffardi, O
Reciprocal translocations: a trap for cytogenetists?
2005-01-01 Ciccone, R; Giorda, R; Gregato, G; Guerrini, R; Giglio, SABRINA RITA; Carrozzo, R; Bonaglia, Mc; Priolo, E; Lagana, C; Tenconi, R; Rocchi, M; Pramparo, T; Zuffardi, O; Rossi, E.
Inverted duplications: how many of them are mosaic?
2004-01-01 Pramparo, T; Giglio, SABRINA RITA; Gregato, G; DE GREGORI, M; GRAZIA PATRICELLI, M; Ciccone, R; Scappaticci, S; Mannino, G; Lombardi, C; Pirola, B; Giorda, R; Rocchi, M; Zuffardi, O.
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.
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.
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.
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.
| Titolo | Data di pubblicazione | Autore(i) | Rivista | Editore |
|---|---|---|---|---|
| The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies | 1-gen-2007 | Panza, E; Gimelli, G; Passalacqua, M; Cohen, A; Gimelli, S; Giglio, SABRINA RITA; Ghezzi, C; Sparatore, B; Heye, B; Zuffardi, O; Rugarli, E; Meitinger, T; Romeo, G; Ravazzolo, R; Seri, M. | JOURNAL OF MEDICAL GENETICS | - |
| A de novo 2q interstitial deletion in a patient with a Turner phenotype | 1-gen-2007 | Giglio, SABRINA RITA; Andreucci, Elena; Ricca, I.; Guarducci, S.; Ricci, U.; Sani, I.; Nanni, L.; Seminara, Salvatore; Genuardi, ; O. Zuffardi, M. Genuardi; O., Zuffardi | CHROMOSOME RESEARCH | - |
| Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients | 1-gen-2007 | De Gregori, M; Ciccone, R; Magini, P; Pramparo, T; Gimelli, S; Messa, J; Novara, F; Vetro, A; Rossi, E; Maraschio, P; Bonaglia, M. C; Anichini, C; Ferrero, G. B; Silengo, M; Fazzi, E; Zatterale, A; Fischetto, R; Previderé, C; Belli, S; Turci, A; Calabrese, G; Bernardi, F; Meneghelli, E; Riegel, M; Rocchi, M; Guerneri, S; Lalatta, F; Zelante, L; Romano, C; Fichera, M; Mattina, T; Arrigo, G; Zollino, M; Giglio, SABRINA RITA; Lonardo, F; Bonfante, A; Ferlini, A; Cifuentes, F; Van Esch, H; Backx, L; Schinzel, A; Vermeesch, J. R; Zuffardi, O. | JOURNAL OF MEDICAL GENETICS | - |
| 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients | 1-gen-2007 | Ballarati, L; Rossi, E; Bonati, Mt; Gimelli, S; Maraschio, P; Finelli, P; Giglio, SABRINA RITA; Lapi, E; Bedeschi, Mf; Guerneri, S; Arrigo, G; Patricelli, Mg; Mattina, T; Guzzardi, O; Pecile, V; Police, A; Scarano, G; Larizza, L; Zuffardi, O; Giardino, D. | JOURNAL OF MEDICAL GENETICS | - |
| Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2 | 1-gen-2007 | Giorda, R; Ciccone, R; Gimelli, G; Pramparo, T; Beri, S; Bonaglia, Mc; Giglio, SABRINA RITA; Genuardi, M; Argente, J; Rocchi, M; Zuffardi, O. | HUMAN MUTATION | - |
| Inversion Chromosomes | 1-gen-2006 | Zuffardi, O; Ciccone, R; Giglio, S; Pramparo, T | - | Humana Press |
| 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia | 1-gen-2005 | Elena, Rossi; Manuela de, Gregori; Maria Grazia, Patricelli; Tiziano, Pramparo; Luisa, Argentiero; Giglio, SABRINA RITA; Katiuscia, Sosta; Giovanni, Foresti; Orsetta, Zuffardi | AMERICAN JOURNAL OF HUMAN GENETICS | - |
| Mosaic variegated aneuploidy: two new cases including a prenatal one | 1-gen-2005 | Arrigo, G; Gimelli, S; Illekova, Z; Giglio, S; Zuffardi, O | CHROMOSOME RESEARCH | - |
| Reciprocal translocations: a trap for cytogenetists? | 1-gen-2005 | Ciccone, R; Giorda, R; Gregato, G; Guerrini, R; Giglio, SABRINA RITA; Carrozzo, R; Bonaglia, Mc; Priolo, E; Lagana, C; Tenconi, R; Rocchi, M; Pramparo, T; Zuffardi, O; Rossi, E. | HUMAN GENETICS | - |
| Inverted duplications: how many of them are mosaic? | 1-gen-2004 | Pramparo, T; Giglio, SABRINA RITA; Gregato, G; DE GREGORI, M; GRAZIA PATRICELLI, M; Ciccone, R; Scappaticci, S; Mannino, G; Lombardi, C; Pirola, B; Giorda, R; Rocchi, M; Zuffardi, O. | EUROPEAN JOURNAL OF HUMAN GENETICS | - |
| 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 | - |
| 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 | - |
| 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 | - |
| 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 | - |
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