Sfoglia per Autore
SHOX mutations detected by FISH and direct sequencing in patients with short stature
2003-01-01 Stuppia, Liborio; Calabrese, Giuseppe; Gatta, Valentina; Pintor, S; Morizio, Elisena; Fantasia, Donatella; GUANCIALI FRANCHI, Paolo Emilio; Rinaldi, Mm; Scarano, G; Concolino, D; Giannotti, A; Petreschi, F; Anzellotti, Mt; Pomilio, M; Chiarelli, Francesco; Tumini, S; Palka, Giandomenico
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome
2004-01-01 Gatta, V.; Scarciolla, O.; Cupaioli, M.; Palka, C.; Chiesa, P. L.; Stuppia, L.
Increased and pathologic emperipolesis of neutrophils within megakaryocytes associated with marrow fibrosis in GATA-1low mice
2004-01-01 Centurione, Lucia; DI BALDASSARRE, Angela; Zingariello, Maria; Bosco, Domenico; Gatta, Valentina; Rana, Rosa Alba; Langella, Vincenzo; Di Virgilio, Antonio; Vannucchi, Alessandro M.; Migliaccio, Anna Rita
Increased and pathological emperipolesis of neutrophils within megakaryocytes associated with myelofibrosis in GATA-1(Mice)(Low).
2004-01-01 Migliaccio, Ar; Centurione, Lucia; DI BALDASSARRE, Angela; Zingariello, Maria; Bosco, D; Gatta, Valentina; Rana, Rosa Alba; Di Virgilio, A; Vannucchi, Am
Variegation of the phenotype induced by the Gata1low mutation in mice of different genetic backgrounds.
2005-01-01 Martelli, F; Ghinassi, Barbara; Panetta, B; Alfani, E; Gatta, Valentina; Pancrazzi, A; Bogani, C; Vannucchi, Am; Paoletti, F; Migliaccio, G; Migliaccio, Ar
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs
2005-01-01 Stuppia, Liborio; Antonucci, Ivana; Binni, F; Brandi, A; Grifone, N; Colosimo, Alessia; DE SANTO, M; Gatta, Valentina; Gelli, G; Guida, V; Majore, S; Calabrese, Giuseppe; Palka, Chiara; Ravani, A; Rinaldi, R; Tiboni, Gian Mario; Ballone, Enzo; Venturoli, A; Ferlini, A; Torrente, I; Grammatico, P; Calzolari, E; Dallapiccola, B.
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA).
2005-01-01 Gatta, Valentina; Scarciolla, O; Gaspari, Anna Rita; Palka, Chiara; DE ANGELIS, Maria; DI MUZIO, Antonietta; GUANCIALI FRANCHI, Paolo Emilio; Calabrese, Giuseppe; Uncini, Antonino; Stuppia, Liborio
Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene.
2005-01-01 Stuppia, Liborio; Gatta, Valentina; Scarciolla, O; Antonucci, Ivana; Morizio, Elisena; Calabrese, Giuseppe; Palka, Giandomenico
IDENTIFICATION AND FUNCTIONAL ROLE OF A MEMBRANE PURINE NUCLEOSIDE PHOSPHORYLASE (ECTO-PNP). EVIDENCE FOR A POLYMORPHISM IN PNP GENE ASSOCIATED WITH A FAST DECAY OF COGNITIVE ACTIVITY IN PATIENTS WITH ALZHEIMER'S DISEASE.
2005-01-01 DI IORIO, Patrizia; Beraudi, A.; Giuliani, Patricia; Tumini, E.; Porcellini, E.; Chiappelli, C.; Ballerini, Patrizia; Licastro, F.; Poli, A.; Caciagli, Francesco; Gatta, Valentina
Microsatellite polymorphism of the human leptin gene (LEP) and risk of cardiovascular disease
2006-01-01 Porreca, Ettore; DI FEBBO, C; Pintor, Silvia; Baccante, Giovanna; Gatta, Valentina; Moretta, Valeria; DI NISIO, Marcello; Cuccurullo, Franco; Palka, Giandomenico; Stuppia, Liborio
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia
2006-01-01 Brusco, A.; Michielotto, C.; Gatta, Valentina; Foresta, C.; Matullo, G.; Zeviani, M.; Ferrari, G.; Dragone, E.; Calabrese, Giuseppe; Rossato, M.; Stuppia, Liborio; Migone, N.
Male infertility: role of genetic background
2007-01-01 Ferlin, A; Raicu, Florina; Gatta, Valentina; Zuccarello, D; Palka, Giandomenico; Foresta, C.
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay
2007-01-01 Gatta, V.; Antonucci, I.; Morizio, E.; Palka, C.; Fischetto, R.; Mokini, V.; Tumini, S.; Calabrese, G.; Stuppia, L.
5HTR2A and COMT genes in attention-deficit/hyperactivity disorder: a preliminary study
2007-01-01 Grilli, Alfredo; Antonucci, Ivana; Gatta, Valentina; Buono, R.; Marmorato, S.; Saggino, Aristide; Felaco, Mario; Bonetta, Gaetano; Stuppia, Liborio
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.
2007-01-01 Veschi, S; Aceto, Gitana; Scioletti, Ap; Gatta, Valentina; Palka, Giandomenico; Cama, Alessandro; MARIANI COSTANTINI, Renato; Battista, Pasquale; Calò, V; Barbera, F; Bazan, V; Russo, A; Stuppia, Liborio
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man.
2008-01-01 GUANCIALI FRANCHI, Paolo Emilio; Calabrese, Giuseppe; Morizio, Elisena; Gatta, Valentina; Palka, Chiara; Stuppia, Liborio; Zuffardi, O.
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome.
2008-01-01 Raicu, Florina; Giuliani, Rossella; Gatta, Valentina; Palka, Chiara; GUANCIALI FRANCHI, Paolo Emilio; LELLI CHIESA, Pierluigi; Tumini, S; Stuppia, Liborio
Muscle-specific integrins in masseter muscle fibers of chimpanzees: an immunohistochemical study
2009-01-01 Favaloro, A; Speranza, G; Rezza, Silvia; Gatta, Valentina; Vaccarino, G; Stuppia, Liborio; Festa, Felice; Anastasi, Giuseppe
Polymorphisms of chemokine receptor genes in Alzheimer's and Parkinson's Patients
2009-01-01 Reale, Marcella; Gatta, Valentina; DI NICOLA, Marta; Stuppia, Liborio; Palka, Giandomenico; Iarlori, C.; Thomas, Astrid Maria; Onofrj, Marco; Gambi, Domenico
Genetic testing in couples undergoing assisted reproduction technique protocols
2009-01-01 Stuppia, Liborio; Gatta, Valentina; Antonucci, Ivana; Giuliani, Rossella; ANNA PAOLA, Scioletti; Palka, Giandomenico
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
SHOX mutations detected by FISH and direct sequencing in patients with short stature | 2003 | Stuppia, Liborio; Calabrese, Giuseppe; Gatta, Valentina; Pintor, S; Morizio, Elisena; Fantasia, Donatella; GUANCIALI FRANCHI, Paolo Emilio; Rinaldi, Mm; Scarano, G; Concolino, D; Giannotti, A; Petreschi, F; Anzellotti, Mt; Pomilio, M; Chiarelli, Francesco; Tumini, S; Palka, Giandomenico | |
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome | 2004 | Gatta, V.; Scarciolla, O.; Cupaioli, M.; Palka, C.; Chiesa, P. L.; Stuppia, L. | |
Increased and pathologic emperipolesis of neutrophils within megakaryocytes associated with marrow fibrosis in GATA-1low mice | 2004 | Centurione, Lucia; DI BALDASSARRE, Angela; Zingariello, Maria; Bosco, Domenico; Gatta, Valentina; Rana, Rosa Alba; Langella, Vincenzo; Di Virgilio, Antonio; Vannucchi, Alessandro M.; Migliaccio, Anna Rita | |
Increased and pathological emperipolesis of neutrophils within megakaryocytes associated with myelofibrosis in GATA-1(Mice)(Low). | 2004 | Migliaccio, Ar; Centurione, Lucia; DI BALDASSARRE, Angela; Zingariello, Maria; Bosco, D; Gatta, Valentina; Rana, Rosa Alba; Di Virgilio, A; Vannucchi, Am | |
Variegation of the phenotype induced by the Gata1low mutation in mice of different genetic backgrounds. | 2005 | Martelli, F; Ghinassi, Barbara; Panetta, B; Alfani, E; Gatta, Valentina; Pancrazzi, A; Bogani, C; Vannucchi, Am; Paoletti, F; Migliaccio, G; Migliaccio, Ar | |
Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs | 2005 | Stuppia, Liborio; Antonucci, Ivana; Binni, F; Brandi, A; Grifone, N; Colosimo, Alessia; DE SANTO, M; Gatta, Valentina; Gelli, G; Guida, V; Majore, S; Calabrese, Giuseppe; Palka, Chiara; Ravani, A; Rinaldi, R; Tiboni, Gian Mario; Ballone, Enzo; Venturoli, A; Ferlini, A; Torrente, I; Grammatico, P; Calzolari, E; Dallapiccola, B. | |
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). | 2005 | Gatta, Valentina; Scarciolla, O; Gaspari, Anna Rita; Palka, Chiara; DE ANGELIS, Maria; DI MUZIO, Antonietta; GUANCIALI FRANCHI, Paolo Emilio; Calabrese, Giuseppe; Uncini, Antonino; Stuppia, Liborio | |
Identification in chromosome 8q11 of a region of homology with the g1 amplicon of the Y chromosome and functional analysis of the BEYLA gene. | 2005 | Stuppia, Liborio; Gatta, Valentina; Scarciolla, O; Antonucci, Ivana; Morizio, Elisena; Calabrese, Giuseppe; Palka, Giandomenico | |
IDENTIFICATION AND FUNCTIONAL ROLE OF A MEMBRANE PURINE NUCLEOSIDE PHOSPHORYLASE (ECTO-PNP). EVIDENCE FOR A POLYMORPHISM IN PNP GENE ASSOCIATED WITH A FAST DECAY OF COGNITIVE ACTIVITY IN PATIENTS WITH ALZHEIMER'S DISEASE. | 2005 | DI IORIO, Patrizia; Beraudi, A.; Giuliani, Patricia; Tumini, E.; Porcellini, E.; Chiappelli, C.; Ballerini, Patrizia; Licastro, F.; Poli, A.; Caciagli, Francesco; Gatta, Valentina | |
Microsatellite polymorphism of the human leptin gene (LEP) and risk of cardiovascular disease | 2006 | Porreca, Ettore; DI FEBBO, C; Pintor, Silvia; Baccante, Giovanna; Gatta, Valentina; Moretta, Valeria; DI NISIO, Marcello; Cuccurullo, Franco; Palka, Giandomenico; Stuppia, Liborio | |
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia | 2006 | Brusco, A.; Michielotto, C.; Gatta, Valentina; Foresta, C.; Matullo, G.; Zeviani, M.; Ferrari, G.; Dragone, E.; Calabrese, Giuseppe; Rossato, M.; Stuppia, Liborio; Migone, N. | |
Male infertility: role of genetic background | 2007 | Ferlin, A; Raicu, Florina; Gatta, Valentina; Zuccarello, D; Palka, Giandomenico; Foresta, C. | |
Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay | 2007 | Gatta, V.; Antonucci, I.; Morizio, E.; Palka, C.; Fischetto, R.; Mokini, V.; Tumini, S.; Calabrese, G.; Stuppia, L. | |
5HTR2A and COMT genes in attention-deficit/hyperactivity disorder: a preliminary study | 2007 | Grilli, Alfredo; Antonucci, Ivana; Gatta, Valentina; Buono, R.; Marmorato, S.; Saggino, Aristide; Felaco, Mario; Bonetta, Gaetano; Stuppia, Liborio | |
High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability. | 2007 | Veschi, S; Aceto, Gitana; Scioletti, Ap; Gatta, Valentina; Palka, Giandomenico; Cama, Alessandro; MARIANI COSTANTINI, Renato; Battista, Pasquale; Calò, V; Barbera, F; Bazan, V; Russo, A; Stuppia, Liborio | |
A new case of mosaicism for invdup(15) duplicated for Prader-Willi/Angelman syndrome critical region (PWACR) in an adult healthy man. | 2008 | GUANCIALI FRANCHI, Paolo Emilio; Calabrese, Giuseppe; Morizio, Elisena; Gatta, Valentina; Palka, Chiara; Stuppia, Liborio; Zuffardi, O. | |
Novel mutation in the ligand-binding domain of the androgen receptor gene (l790p) associated with complete androgen insensitivity syndrome. | 2008 | Raicu, Florina; Giuliani, Rossella; Gatta, Valentina; Palka, Chiara; GUANCIALI FRANCHI, Paolo Emilio; LELLI CHIESA, Pierluigi; Tumini, S; Stuppia, Liborio | |
Muscle-specific integrins in masseter muscle fibers of chimpanzees: an immunohistochemical study | 2009 | Favaloro, A; Speranza, G; Rezza, Silvia; Gatta, Valentina; Vaccarino, G; Stuppia, Liborio; Festa, Felice; Anastasi, Giuseppe | |
Polymorphisms of chemokine receptor genes in Alzheimer's and Parkinson's Patients | 2009 | Reale, Marcella; Gatta, Valentina; DI NICOLA, Marta; Stuppia, Liborio; Palka, Giandomenico; Iarlori, C.; Thomas, Astrid Maria; Onofrj, Marco; Gambi, Domenico | |
Genetic testing in couples undergoing assisted reproduction technique protocols | 2009 | Stuppia, Liborio; Gatta, Valentina; Antonucci, Ivana; Giuliani, Rossella; ANNA PAOLA, Scioletti; Palka, Giandomenico |
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