Sfoglia per Autore
Inverted duplications: how many of them are mosaic?
2004-01-01 Zuffardi, Orsetta; Pramparo, T; Giglio, S; Gregato, G; De Gregori, M; Patricelli, Mg; Ciccone, Roberto; Scappaticci, S; Mannino, G; Lombardi, C; Pirola, B; Giorda, R; Rocchi, M.
Inverted duplications: how many of them are mosaic?
2004-01-01 T., Pramparo; S., Giglio; G., Gregato; M. d., Gregori; M. G., Patricelli; Ciccone, Roberto; S., Scappaticci; G., Mannino; C., Lombardi; B., Pirola; R., Giorda; M., Rocchi; O., Zuffardi
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements?
2005-01-01 Zuffardi, Orsetta; DE GREGORI, Manuela; Pramparo, Tiziano; Ciccone, Roberto; Messa, Jole; De Gregori, M; Pramparo, T; Memo, L; Gimelli, G; Messa, J; Rocchi, M; Patricelli, Mg; Ciccone, R; Giorda, R.
Reciprocal translocations: a trap for cytogenetists?
2005-01-01 Ciccone, Roberto; Pramparo, Tiziano; Gregato, G; Guerrini, R; Giglio, S; Carrozzo, R; Bonaglia, Mc; Priolo, E; Lagana, C; Tenconi, R; Rocchi, M; Pramparo, T; Zuffardi, Orsetta; Rossi, Elena
Reciprocal translocations: a trap for cytogenetists?
2005-01-01 Ciccone, Roberto; R., Giorda; G., Gregato; R., Guerrini; S., Giglio; R., Carrozzo; M. C., Bonaglia; E., Priolo; C., Laganà; R., Tenconi; M., Rocchi; T., Pramparo; O., Zuffardi; E., Rossi
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?
2005-01-01 M. D., Gregori; T., Pramparo; L., Memo; G., Gimelli; J., Messa; M., Rocchi; M. G., Patricelli; Ciccone, Roberto; R., Giorda; O., Zuffardi
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH.
2006-01-01 Zuffardi, Orsetta; Ciccone, Roberto; Priolo, M; Ciccone, R; Bova, I; Campolo, G; Lagana, C.
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.
2006-01-01 Zuffardi, Orsetta; Ciccone, Roberto; Pramparo, Tiziano; Mattina, T; Giorda, R; Bonaglia, Mc; Rocchi, M.
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
2006-01-01 M., Cau; M., Addis; R., Congiu; C., Meloni; A., Cao; S., Santaniello; M., Loi; F., Emma; O., Zuffardi; Ciccone, Roberto; G., Sole; M. A., Melis
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture.
2006-01-01 Ciccone, Roberto; T., Mattina; R., Giorda; M. C., Bonaglia; M., Rocchi; T., Pramparo; O., Zuffardi
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
2007-01-01 Zuffardi, Orsetta; Ciccone, Roberto; Cau, M; Addis, M; Congiu, R; Meloni, C; Cao, A; Santaniello, S; Loi, M; Emma, F; Sole, G; Melis, Ma
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
2007-01-01 Wieland, I; Weidner, C; Ciccone, Roberto; Lapi, E; MCDONALD MCGINN, D; Kress, W; Jakubiczka, S; Collmann, H; Zuffardi, Orsetta; Zackai, E; Wieacker, P.
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH
2007-01-01 Priolo, M.; Ciccone, Roberto; Bova, I.; Campolo, G.; Laganà, C.; Zuffardi, Orsetta
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
2007-01-01 Vermeesch, J. R.; Fiegler, H.; DE LEEUW, N.; Szuhai, K.; Schoumans, J.; Ciccone, Roberto; Speleman, F.; Rauch, A.; CLAYTON SMITH, J.; VAN RAVENSWAAIJ, C.; Sanlaville, D.; Patsalis, P. C.; Firth, H.; Devriendt, K.; Zuffardi, Orsetta
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome
2007-01-01 Addis, M.; Meloni, C.; Congiu, R.; Santaniello, S.; Emma, F.; Zuffardi, Orsetta; Ciccone, Roberto; Cao, A.; Melis, M. A.; Cau, M.
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
2007-01-01 Concolino, D; Rossi, Elena; Strisciuglio, P; Iembo, Ma; Giorda, R; Ciccone, Roberto; Tenconi, R; Zuffardi, Orsetta
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.
2007-01-01 M., Priolo; Ciccone, Roberto; I., Bova; G., Campolo; C., Laganà; O., Zuffardi
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome.
2007-01-01 I., Wieland; C., Weidner; Ciccone, Roberto; E., Lapi; D., McDonald McGinn; W., Kress; S., Jakubiczka; H., Collmann; O., Zuffardi; E., Zackai; P., Wieacker
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.
2007-01-01 M. D., Gregori; Ciccone, Roberto; P., Magini; T., Pramparo; S., Gimelli; J., Messa; F., Novara; Vetro, Annalisa; E., Rossi; P., Maraschio; M. C., Bonaglia; C., Anichini; G. B., Ferrero; M., Silengo; E., Fazzi; A., Zatterale; R., Fischetto; Previdere', Carlo; S., Belli; A., Turci; G., Calabrese; F., Bernardi; E., Meneghelli; M., Riegel; M., Rocchi; S., Guerneri; F., Lalatta; L., Zelante; C., Romano; M., Fichera; T., Mattina; G., Arrigo; M., Zollino; S., Giglio; F., Lonardo; A., Bonfante; A., Ferlini; F., Cifuentes; H. V., Esch; L., Backx; A., Schinzel; J. R., Vermeesch; O., Zuffardi
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.
2007-01-01 D., Concolino; E., Rossi; P., Strisciuglio; M. A., Iembo; R., Giorda; Ciccone, Roberto; R., Tenconi; O., Zuffardi
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Inverted duplications: how many of them are mosaic? | 1-gen-2004 | Zuffardi, Orsetta; Pramparo, T; Giglio, S; Gregato, G; De Gregori, M; Patricelli, Mg; Ciccone, Roberto; Scappaticci, S; Mannino, G; Lombardi, C; Pirola, B; Giorda, R; Rocchi, M. | |
Inverted duplications: how many of them are mosaic? | 1-gen-2004 | T., Pramparo; S., Giglio; G., Gregato; M. d., Gregori; M. G., Patricelli; Ciccone, Roberto; S., Scappaticci; G., Mannino; C., Lombardi; B., Pirola; R., Giorda; M., Rocchi; O., Zuffardi | |
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangements? | 1-gen-2005 | Zuffardi, Orsetta; DE GREGORI, Manuela; Pramparo, Tiziano; Ciccone, Roberto; Messa, Jole; De Gregori, M; Pramparo, T; Memo, L; Gimelli, G; Messa, J; Rocchi, M; Patricelli, Mg; Ciccone, R; Giorda, R. | |
Reciprocal translocations: a trap for cytogenetists? | 1-gen-2005 | Ciccone, Roberto; Pramparo, Tiziano; Gregato, G; Guerrini, R; Giglio, S; Carrozzo, R; Bonaglia, Mc; Priolo, E; Lagana, C; Tenconi, R; Rocchi, M; Pramparo, T; Zuffardi, Orsetta; Rossi, Elena | |
Reciprocal translocations: a trap for cytogenetists? | 1-gen-2005 | Ciccone, Roberto; R., Giorda; G., Gregato; R., Guerrini; S., Giglio; R., Carrozzo; M. C., Bonaglia; E., Priolo; C., Laganà; R., Tenconi; M., Rocchi; T., Pramparo; O., Zuffardi; E., Rossi | |
Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement? | 1-gen-2005 | M. D., Gregori; T., Pramparo; L., Memo; G., Gimelli; J., Messa; M., Rocchi; M. G., Patricelli; Ciccone, Roberto; R., Giorda; O., Zuffardi | |
Malpuech syndrome: Broadening the clinical spectrum and molecular analysis by array-CGH. | 1-gen-2006 | Zuffardi, Orsetta; Ciccone, Roberto; Priolo, M; Ciccone, R; Bova, I; Campolo, G; Lagana, C. | |
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. | 1-gen-2006 | Zuffardi, Orsetta; Ciccone, Roberto; Pramparo, Tiziano; Mattina, T; Giorda, R; Bonaglia, Mc; Rocchi, M. | |
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. | 1-gen-2006 | M., Cau; M., Addis; R., Congiu; C., Meloni; A., Cao; S., Santaniello; M., Loi; F., Emma; O., Zuffardi; Ciccone, Roberto; G., Sole; M. A., Melis | |
Inversion polymorphisms and non-contiguous terminal deletions: the cause and the (unpredicted) effect of our genome architecture. | 1-gen-2006 | Ciccone, Roberto; T., Mattina; R., Giorda; M. C., Bonaglia; M., Rocchi; T., Pramparo; O., Zuffardi | |
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome. | 1-gen-2007 | Zuffardi, Orsetta; Ciccone, Roberto; Cau, M; Addis, M; Congiu, R; Meloni, C; Cao, A; Santaniello, S; Loi, M; Emma, F; Sole, G; Melis, Ma | |
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. | 1-gen-2007 | Wieland, I; Weidner, C; Ciccone, Roberto; Lapi, E; MCDONALD MCGINN, D; Kress, W; Jakubiczka, S; Collmann, H; Zuffardi, Orsetta; Zackai, E; Wieacker, P. | |
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH | 1-gen-2007 | Priolo, M.; Ciccone, Roberto; Bova, I.; Campolo, G.; Laganà, C.; Zuffardi, Orsetta | |
Guidelines for molecular karyotyping in constitutional genetic diagnosis. | 1-gen-2007 | Vermeesch, J. R.; Fiegler, H.; DE LEEUW, N.; Szuhai, K.; Schoumans, J.; Ciccone, Roberto; Speleman, F.; Rauch, A.; CLAYTON SMITH, J.; VAN RAVENSWAAIJ, C.; Sanlaville, D.; Patsalis, P. C.; Firth, H.; Devriendt, K.; Zuffardi, Orsetta | |
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome | 1-gen-2007 | Addis, M.; Meloni, C.; Congiu, R.; Santaniello, S.; Emma, F.; Zuffardi, Orsetta; Ciccone, Roberto; Cao, A.; Melis, M. A.; Cau, M. | |
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. | 1-gen-2007 | Concolino, D; Rossi, Elena; Strisciuglio, P; Iembo, Ma; Giorda, R; Ciccone, Roberto; Tenconi, R; Zuffardi, Orsetta | |
Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH. | 1-gen-2007 | M., Priolo; Ciccone, Roberto; I., Bova; G., Campolo; C., Laganà; O., Zuffardi | |
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. | 1-gen-2007 | I., Wieland; C., Weidner; Ciccone, Roberto; E., Lapi; D., McDonald McGinn; W., Kress; S., Jakubiczka; H., Collmann; O., Zuffardi; E., Zackai; P., Wieacker | |
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. | 1-gen-2007 | M. D., Gregori; Ciccone, Roberto; P., Magini; T., Pramparo; S., Gimelli; J., Messa; F., Novara; Vetro, Annalisa; E., Rossi; P., Maraschio; M. C., Bonaglia; C., Anichini; G. B., Ferrero; M., Silengo; E., Fazzi; A., Zatterale; R., Fischetto; Previdere', Carlo; S., Belli; A., Turci; G., Calabrese; F., Bernardi; E., Meneghelli; M., Riegel; M., Rocchi; S., Guerneri; F., Lalatta; L., Zelante; C., Romano; M., Fichera; T., Mattina; G., Arrigo; M., Zollino; S., Giglio; F., Lonardo; A., Bonfante; A., Ferlini; F., Cifuentes; H. V., Esch; L., Backx; A., Schinzel; J. R., Vermeesch; O., Zuffardi | |
Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. | 1-gen-2007 | D., Concolino; E., Rossi; P., Strisciuglio; M. A., Iembo; R., Giorda; Ciccone, Roberto; R., Tenconi; O., Zuffardi |
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