TIEPOLO, LUCIANO
TIEPOLO, LUCIANO
DIPARTIMENTO DI PATOLOGIA UMANA ED EREDITARIA (attivo dal 01/01/1900 al 28/02/2011)
A novel mutation and novel features in Nijmegen breakage syndrome.
2001-01-01 Maraschio, Paola; Danesino, Cesare; Antoccia, A; Ricordy, R; Tanzarella, C; Varon, R; Reis, A; Besana, D; Guala, A; Tiepolo, Luciano
Agenesis of corpus callosum, ocular and skeletal anomalies (x-linked dominant Aicardi's syndrome)
1982-01-01 Ropers, Hh; Zuffardi, Orsetta; Bianchi, E; Tiepolo, Luciano
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.
1980-01-01 Tiepolo, Luciano; Zuffardi, Orsetta; Fraccaro, Marco; Di Natale, B; Gargantini, L; Muller, Cr; Ropers, Hh
BSu restriction of DNA from cases exhibiting sex chromosom abnormalities.
1978-01-01 Kinross, J; Fraccaro, Marco; Scappaticci, MARIA ASSUNTA; Tiepolo, Luciano; Zuffardi, Orsetta; Pawlowitzki, Ih; Jones, Kw
Chromosome abnormalities and male infertility. Oligozoospermia: recent progress in andrology
1981-01-01 Tiepolo, Luciano; Zuffardi, Orsetta; Fraccaro, Marco; Giarola, A.
Chromosome instability and nibrin protein variants in NBS heterozygotes.
2003-01-01 Tanzarella, C; Antoccia, A; Spadoni, E; di Masi, A; Pecile, V; Demori, E; Varon, R; Marseglia, GIAN LUIGI; Tiepolo, Luciano; Maraschio, Paola
Citochimica, autoradiografia e ultrastruttura di cellule della granulosa ovarica umana "in vitro".
1975-01-01 Magrini, Umberto; Scappaticci, MARIA ASSUNTA; Tiepolo, Luciano; Danesino, Cesare
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome.
2002-01-01 Maraschio, Paola; Danesino, Cesare; Varon, R; Tiepolo, Luciano
Familial XX true hermaphroditism and the H-Y antigen.
1979-01-01 Fraccaro, Marco; Tiepolo, Luciano; Zuffardi, Orsetta; Chiumello, G; Di Natale, B; Gargantini, L; Wolf, U.
Frequencies and types of chromosome abnormalities associated with human male infertility
1982-01-01 Zuffardi, Orsetta; Tiepolo, Luciano
Genetic heterogeneity for a Nijmegen Breakage-like Syndrome
2003-01-01 Maraschio, Paola; Spadoni, Emanuela; Tanzarella, C.; Antoccia, A.; DI MASI, A.; Maghnie, M.; Varon, R.; Demuth, I.; Tiepolo, Luciano; Danesino, Cesare
Identification of a structurally abnormal Y chromosome.
1971-01-01 Scappaticci, MARIA ASSUNTA; Fraccaro, Marco; Tiepolo, Luciano; Turpini, R.
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome.
1988-01-01 Maraschio, Paola; Zuffardi, Orsetta; Dalla Fior, T; Tiepolo, Luciano
Localization of factors controlling spermatogenesis in the nonfluoresecent portion of the human Y chromosome long arm.
1976-01-01 Tiepolo, Luciano; Zuffardi, Orsetta
Nullisomy for the distal portion of Xp in a male child with a X/Y translocation.
1977-01-01 Tiepolo, Luciano; Zuffardi, Orsetta; Rodewald, A.
Orign and clinical significance of inv dup(15)
1988-01-01 Maraschio, Paola; Cuoco, C; Gimelli, G; Zuffardi, Orsetta; Tiepolo, Luciano
Reduced phenotypic effetc of partial trisomy 1q in a X/1 translocation.
1977-01-01 Zuffardi, Orsetta; Tiepolo, Luciano; Scappaticci, S; Francesconi, D; Bianchi, C; Di Natale, B.
Ribosomal RNA in infertile male carriers of Robertsonian translocations
1980-01-01 Guanti, G; Zuffardi, Orsetta; Tiepolo, Luciano
The "cat eye syndrome": dicentric small marker chromosome probably derived from a n. 22 (tetrasomy 22pter-->q11) associated with a characteristic phenotype.
1981-01-01 Schinzel, A; Schmid, W; Fraccaro, Marco; Tiepolo, Luciano; Zuffardi, Orsetta; Opitz, Jm; Lindsten, J; Zetterqvist, P; Enell, H; Baccichetti, C; Tenconi, R; Pagon, Ra
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family.
2005-01-01 Radi, Orietta; Parma, Pietro; Imbeaud, S; Nasca, Mr; Uccellatore, F; Maraschio, Paola; Tiepolo, Luciano; Micali, G; Camerino, Giovanna
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A novel mutation and novel features in Nijmegen breakage syndrome. | 1-gen-2001 | Maraschio, Paola; Danesino, Cesare; Antoccia, A; Ricordy, R; Tanzarella, C; Varon, R; Reis, A; Besana, D; Guala, A; Tiepolo, Luciano | |
Agenesis of corpus callosum, ocular and skeletal anomalies (x-linked dominant Aicardi's syndrome) | 1-gen-1982 | Ropers, Hh; Zuffardi, Orsetta; Bianchi, E; Tiepolo, Luciano | |
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. | 1-gen-1980 | Tiepolo, Luciano; Zuffardi, Orsetta; Fraccaro, Marco; Di Natale, B; Gargantini, L; Muller, Cr; Ropers, Hh | |
BSu restriction of DNA from cases exhibiting sex chromosom abnormalities. | 1-gen-1978 | Kinross, J; Fraccaro, Marco; Scappaticci, MARIA ASSUNTA; Tiepolo, Luciano; Zuffardi, Orsetta; Pawlowitzki, Ih; Jones, Kw | |
Chromosome abnormalities and male infertility. Oligozoospermia: recent progress in andrology | 1-gen-1981 | Tiepolo, Luciano; Zuffardi, Orsetta; Fraccaro, Marco; Giarola, A. | |
Chromosome instability and nibrin protein variants in NBS heterozygotes. | 1-gen-2003 | Tanzarella, C; Antoccia, A; Spadoni, E; di Masi, A; Pecile, V; Demori, E; Varon, R; Marseglia, GIAN LUIGI; Tiepolo, Luciano; Maraschio, Paola | |
Citochimica, autoradiografia e ultrastruttura di cellule della granulosa ovarica umana "in vitro". | 1-gen-1975 | Magrini, Umberto; Scappaticci, MARIA ASSUNTA; Tiepolo, Luciano; Danesino, Cesare | |
Comment on: Corpus callosum hypoplasia and associated brain anomalies in Nijmegen breakage syndrome. | 1-gen-2002 | Maraschio, Paola; Danesino, Cesare; Varon, R; Tiepolo, Luciano | |
Familial XX true hermaphroditism and the H-Y antigen. | 1-gen-1979 | Fraccaro, Marco; Tiepolo, Luciano; Zuffardi, Orsetta; Chiumello, G; Di Natale, B; Gargantini, L; Wolf, U. | |
Frequencies and types of chromosome abnormalities associated with human male infertility | 1-gen-1982 | Zuffardi, Orsetta; Tiepolo, Luciano | |
Genetic heterogeneity for a Nijmegen Breakage-like Syndrome | 1-gen-2003 | Maraschio, Paola; Spadoni, Emanuela; Tanzarella, C.; Antoccia, A.; DI MASI, A.; Maghnie, M.; Varon, R.; Demuth, I.; Tiepolo, Luciano; Danesino, Cesare | |
Identification of a structurally abnormal Y chromosome. | 1-gen-1971 | Scappaticci, MARIA ASSUNTA; Fraccaro, Marco; Tiepolo, Luciano; Turpini, R. | |
Immunodeficiency, centromeric heterochromatin instability of chromosome 1, 9 and 16 and facial anomalies: the ICF syndrome. | 1-gen-1988 | Maraschio, Paola; Zuffardi, Orsetta; Dalla Fior, T; Tiepolo, Luciano | |
Localization of factors controlling spermatogenesis in the nonfluoresecent portion of the human Y chromosome long arm. | 1-gen-1976 | Tiepolo, Luciano; Zuffardi, Orsetta | |
Nullisomy for the distal portion of Xp in a male child with a X/Y translocation. | 1-gen-1977 | Tiepolo, Luciano; Zuffardi, Orsetta; Rodewald, A. | |
Orign and clinical significance of inv dup(15) | 1-gen-1988 | Maraschio, Paola; Cuoco, C; Gimelli, G; Zuffardi, Orsetta; Tiepolo, Luciano | |
Reduced phenotypic effetc of partial trisomy 1q in a X/1 translocation. | 1-gen-1977 | Zuffardi, Orsetta; Tiepolo, Luciano; Scappaticci, S; Francesconi, D; Bianchi, C; Di Natale, B. | |
Ribosomal RNA in infertile male carriers of Robertsonian translocations | 1-gen-1980 | Guanti, G; Zuffardi, Orsetta; Tiepolo, Luciano | |
The "cat eye syndrome": dicentric small marker chromosome probably derived from a n. 22 (tetrasomy 22pter-->q11) associated with a characteristic phenotype. | 1-gen-1981 | Schinzel, A; Schmid, W; Fraccaro, Marco; Tiepolo, Luciano; Zuffardi, Orsetta; Opitz, Jm; Lindsten, J; Zetterqvist, P; Enell, H; Baccichetti, C; Tenconi, R; Pagon, Ra | |
XX sex reversal, palmoplantar keratoderma, and predisposition to squamous cell carcinoma: genetic analysis in one family. | 1-gen-2005 | Radi, Orietta; Parma, Pietro; Imbeaud, S; Nasca, Mr; Uccellatore, F; Maraschio, Paola; Tiepolo, Luciano; Micali, G; Camerino, Giovanna |