PERCESEPE, Antonio
PERCESEPE, Antonio
Dipartimento di Medicina e Chirurgia
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay
2011-01-01 Lugli, Licia; Malacarne, Michela; Cavani, Simona; Pierluigi, Mauro; Ferrari, Fabrizio; Percesepe, Antonio
A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome
2024-01-01 Cognigni, Valeria; Capelletto, Enrica; Bordi, Paola; Pavese, Valeria; Carfì, Federica Maria; Gelsomino, Francesco; De Giglio, Andrea; Chiari, Rita; Minari, Roberta; Ambrosini, Enrico; Percesepe, Antonio; Giachino, Daniela; Bironzo, Paolo; Tiseo, Marcello
A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis
2018-01-01 Martorana, D; Márquez, A; Carmona, Fd; Bonatti, F; Adorni, A; Urban, Ml; Maritati, F; Accorsi Buttini, E; Marvisi, C; Palmisano, A; Rossi, Gm; Trivioli, G; Fenaroli, P; Manenti, L; Nicastro, M; Incerti, M; Gianfreda, D; Bani, Stefano; Ferretti, S; Corradi, D; Alberici, F; Emmi, G; Di Scala, G; Moroni, G; Percesepe, A; Scheel PJ, Jr; Vermeer, E; van Bommel, Ef; Martín, J; Vaglio, A.
A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever
2019-01-01 Farjadian, S.; Bonatti, F.; Soriano, A.; Reina, M.; Adorni, A.; Graziano, C.; Moghtaderi, M.; Percesepe, A.; Romeo, G.; Martorana, D.
A patient with mosaic USP9X gene variant
2022-01-01 Barili, Valeria; Dall'Asta, Andrea; Uliana, Vera; Schera, Giovanni Battista Luca; Ormitti, Francesca; Romanini, Enzo; Micalizzi, Alessia; Magliozzi, Monia; Perrino, Daniele; Novelli, Antonio; Ghi, Tullio; Percesepe, Antonio
A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
2014-01-01 Ansari, Morad; Rainger, Jacqueline K.; Murray, Jennie E.; Hanson, Isabel; Firth, Helen V.; Mehendale, Felicity; Amiel, Jeanne; Gordon, Christopher T.; Percesepe, Antonio; Mazzanti, Laura; Fryer, Alan; Ferrari, Paola; Devriendt, Koenraad; Temple, I. Karen; Fitzpatrick, David R.
A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome
2014-01-01 Elmakky, Amira; Carli, Diana; Lugli, Licia; Torelli, Paola; Guidi, Battista; Falcinelli, Cristina; Fini, Sergio; Ferrari, Fabrizio; Percesepe, Antonio
A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy
1997-01-01 Scapoli, C.; Collins, A.; Benatti, P.; Percesepe, A.; Roncucci, L.; Ponz De Leon, M.
Age-specific risk of fetal loss post second trimester amniocentesis: Analysis of 5043 cases
2007-01-01 Mazza, Vincenzo; Pati, Mariangela; Bertucci, Emma; Re, Claudia; Ranzi, Andrea; Percesepe, Antonio; Forabosco, Antonino; Volpe, Annibale
Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients
2020-01-01 Aiello, M.; Frizzelli, A.; Pisi, R.; Fantin, A.; Ghirardini, M.; Marchi, L.; Ferrarotti, I.; Bertorelli, G.; Percesepe, A.; Chetta, A.
Amplicon-based next-generation sequencing: An effective approach for the molecular diagnosis of epidermolysis bullosa
2015-01-01 Tenedini, E.; Artuso, L.; Bernardis, I.; Artusi, V.; Percesepe, Antonio; De Rosa, L.; Contin, R.; Manfredini, R.; Pellacani, G.; Giannetti, A.; Pagani, J.; De Luca, M.; Tagliafico, E.
ANCA-Associated Vasculitis
2019-01-01 Bonatti, F.; Adorni, A.; Percesepe, A.; Vaglio, A.; Martorana, D.
BCR-ABL1 compound mutants: prevalence, spectrum and correlation with tyrosine kinase inhibitor resistance in a consecutive series of Philadelphia chromosome-positive leukemia patients analyzed by NGS
2020-01-01 Soverini, S.; Martelli, M.; Bavaro, L.; De Benedittis, C.; Sica, S.; Sora, F.; Iurlo, A.; Bonifacio, M.; Pregno, P.; Galimberti, S.; Lunghi, F.; Albano, F.; D'Adda, M.; Crugnola, M.; Capodanno, I.; Castagnetti, F.; Gugliotta, G.; Papayannidis, C.; Rosti, G.; Percesepe, A.; Mignone, F.; Baccarani, M.; Martinelli, G.; Cavo, M.
Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells
2013-01-01 Graziella, Pellegrini; Paolo, Rama; Stanislav, Matuska; Alessandro, Lambiase; Stefano, Bonini; Augusto, Pocobelli; Rossella Gisoldi, Colabelli; Leopoldo, Spadea; Romina, Fasciani; Emilio, Balestrazzi; Paolo, Vinciguerra; Pietro, Rosetta; Achille, Tortori; Marco, Nardi; Giovanna, Gabbriellini; Carlo E., Traverso; Macaluso, Claudio; Lorena, Losi; Percesepe, Antonio; Beatrice, Venturi; Francesca, Corradini; Athanasios, Panaras; Antonio Di, Rocco; Paolo, Guatelli; Michele De, Luca
Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II
2023-01-01 Petraroli, Maddalena; Percesepe, Antonio; Piane, Maria; Ormitti, Francesca; Castellone, Eleonora; Gnocchi, Margherita; Messina, Giulia; Bernardi, Luca; Patianna, Viviana Dora; Esposito, Susanna Maria Roberta; Street, Maria Elisabeth
Cerebral aneurysms and kidney disease in a child with microcephalic osteodysplastic primordial dwarfism type II: novel homozygous mutation in the PCNT gene
2022-01-01 Petraroli, M; Percesepe, A; Piane, M; Gnocchi, M; Messina, G; Lattanzi, C; D'Alvano, T; Patianna, Vd; Ormitti, F; Esposito, Smr; Street, Me
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
2019-01-01 Magini, P.; Scarano, E.; Donati, I.; Sensi, A.; Mazzanti, L.; Perri, A.; Tamburrino, F.; Mongelli, P.; Percesepe, A.; Visconti, P.; Parmeggiani, A.; Seri, M.; Graziano, C.
Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer
1997-01-01 Viel, Alessandra; Genuardi, Maurizio; Capozzi, Eugenia; Leonardi, Francesca; Bellacosa, Alfonso; Paravatou-Petsotas, Maria; Pomponi, Maria Grazia; Fornasarig, Mara; Percesepe, Antonio; Roncucci, Luca; Tamassia, Maria Grazia; Benatti, Piero; De Leon, Maurizio Ponz; Valenti, Agostino; Covino, Marcello; Anti, Marcello; Foletto, Mirto; Boiocchi, Mauro; Neri, Giovanni
Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy
2024-01-01 Gemignani, Franco; Percesepe, Antonio; Gualandi, Francesca; Allegri, Isabella; Bellanova, Maria Federica; Nuredini, Andi; Saccani, Elena; Ambrosini, Enrico; Barili, Valeria; Uliana, Vera
Circadian variations of epithelial cell proliferation in human rectal crypts
1994-01-01 Marra, Giancarlo; Anti, Marcello; Percesepe, Antonio; Armelao, Franco; Ficarelli, Rita; Coco, Claudio; Rinelli, Alessandro; Vecchio, Fabio Maria; D'Arcangelo, Enzo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay | 1-gen-2011 | Lugli, Licia; Malacarne, Michela; Cavani, Simona; Pierluigi, Mauro; Ferrari, Fabrizio; Percesepe, Antonio | |
| A case series of non-small cell lung cancer patients with EGFR or HER2 exon 20 insertion in Li Fraumeni syndrome | 1-gen-2024 | Cognigni, Valeria; Capelletto, Enrica; Bordi, Paola; Pavese, Valeria; Carfì, Federica Maria; Gelsomino, Francesco; De Giglio, Andrea; Chiari, Rita; Minari, Roberta; Ambrosini, Enrico; Percesepe, Antonio; Giachino, Daniela; Bironzo, Paolo; Tiseo, Marcello | |
| A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis | 1-gen-2018 | Martorana, D; Márquez, A; Carmona, Fd; Bonatti, F; Adorni, A; Urban, Ml; Maritati, F; Accorsi Buttini, E; Marvisi, C; Palmisano, A; Rossi, Gm; Trivioli, G; Fenaroli, P; Manenti, L; Nicastro, M; Incerti, M; Gianfreda, D; Bani, Stefano; Ferretti, S; Corradi, D; Alberici, F; Emmi, G; Di Scala, G; Moroni, G; Percesepe, A; Scheel PJ, Jr; Vermeer, E; van Bommel, Ef; Martín, J; Vaglio, A. | |
| A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever | 1-gen-2019 | Farjadian, S.; Bonatti, F.; Soriano, A.; Reina, M.; Adorni, A.; Graziano, C.; Moghtaderi, M.; Percesepe, A.; Romeo, G.; Martorana, D. | |
| A patient with mosaic USP9X gene variant | 1-gen-2022 | Barili, Valeria; Dall'Asta, Andrea; Uliana, Vera; Schera, Giovanni Battista Luca; Ormitti, Francesca; Romanini, Enzo; Micalizzi, Alessia; Magliozzi, Monia; Perrino, Daniele; Novelli, Antonio; Ghi, Tullio; Percesepe, Antonio | |
| A syndromic form of pierre robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX | 1-gen-2014 | Ansari, Morad; Rainger, Jacqueline K.; Murray, Jennie E.; Hanson, Isabel; Firth, Helen V.; Mehendale, Felicity; Amiel, Jeanne; Gordon, Christopher T.; Percesepe, Antonio; Mazzanti, Laura; Fryer, Alan; Ferrari, Paola; Devriendt, Koenraad; Temple, I. Karen; Fitzpatrick, David R. | |
| A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome | 1-gen-2014 | Elmakky, Amira; Carli, Diana; Lugli, Licia; Torelli, Paola; Guidi, Battista; Falcinelli, Cristina; Fini, Sergio; Ferrari, Fabrizio; Percesepe, Antonio | |
| A two-locus model for hereditary non-polyposis colorectal cancer in Modena, Italy | 1-gen-1997 | Scapoli, C.; Collins, A.; Benatti, P.; Percesepe, A.; Roncucci, L.; Ponz De Leon, M. | |
| Age-specific risk of fetal loss post second trimester amniocentesis: Analysis of 5043 cases | 1-gen-2007 | Mazza, Vincenzo; Pati, Mariangela; Bertucci, Emma; Re, Claudia; Ranzi, Andrea; Percesepe, Antonio; Forabosco, Antonino; Volpe, Annibale | |
| Alpha-1 antitrypsin deficiency is significantly associated with atopy in asthmatic patients | 1-gen-2020 | Aiello, M.; Frizzelli, A.; Pisi, R.; Fantin, A.; Ghirardini, M.; Marchi, L.; Ferrarotti, I.; Bertorelli, G.; Percesepe, A.; Chetta, A. | |
| Amplicon-based next-generation sequencing: An effective approach for the molecular diagnosis of epidermolysis bullosa | 1-gen-2015 | Tenedini, E.; Artuso, L.; Bernardis, I.; Artusi, V.; Percesepe, Antonio; De Rosa, L.; Contin, R.; Manfredini, R.; Pellacani, G.; Giannetti, A.; Pagani, J.; De Luca, M.; Tagliafico, E. | |
| ANCA-Associated Vasculitis | 1-gen-2019 | Bonatti, F.; Adorni, A.; Percesepe, A.; Vaglio, A.; Martorana, D. | |
| BCR-ABL1 compound mutants: prevalence, spectrum and correlation with tyrosine kinase inhibitor resistance in a consecutive series of Philadelphia chromosome-positive leukemia patients analyzed by NGS | 1-gen-2020 | Soverini, S.; Martelli, M.; Bavaro, L.; De Benedittis, C.; Sica, S.; Sora, F.; Iurlo, A.; Bonifacio, M.; Pregno, P.; Galimberti, S.; Lunghi, F.; Albano, F.; D'Adda, M.; Crugnola, M.; Capodanno, I.; Castagnetti, F.; Gugliotta, G.; Papayannidis, C.; Rosti, G.; Percesepe, A.; Mignone, F.; Baccarani, M.; Martinelli, G.; Cavo, M. | |
| Biological parameters determining the clinical outcome of autologous cultures of limbal stem cells | 1-gen-2013 | Graziella, Pellegrini; Paolo, Rama; Stanislav, Matuska; Alessandro, Lambiase; Stefano, Bonini; Augusto, Pocobelli; Rossella Gisoldi, Colabelli; Leopoldo, Spadea; Romina, Fasciani; Emilio, Balestrazzi; Paolo, Vinciguerra; Pietro, Rosetta; Achille, Tortori; Marco, Nardi; Giovanna, Gabbriellini; Carlo E., Traverso; Macaluso, Claudio; Lorena, Losi; Percesepe, Antonio; Beatrice, Venturi; Francesca, Corradini; Athanasios, Panaras; Antonio Di, Rocco; Paolo, Guatelli; Michele De, Luca | |
| Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the PCNT gene associated with microcephalic osteodysplastic primordial dwarfism type II | 1-gen-2023 | Petraroli, Maddalena; Percesepe, Antonio; Piane, Maria; Ormitti, Francesca; Castellone, Eleonora; Gnocchi, Margherita; Messina, Giulia; Bernardi, Luca; Patianna, Viviana Dora; Esposito, Susanna Maria Roberta; Street, Maria Elisabeth | |
| Cerebral aneurysms and kidney disease in a child with microcephalic osteodysplastic primordial dwarfism type II: novel homozygous mutation in the PCNT gene | 1-gen-2022 | Petraroli, M; Percesepe, A; Piane, M; Gnocchi, M; Messina, G; Lattanzi, C; D'Alvano, T; Patianna, Vd; Ormitti, F; Esposito, Smr; Street, Me | |
| Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders | 1-gen-2019 | Magini, P.; Scarano, E.; Donati, I.; Sensi, A.; Mazzanti, L.; Perri, A.; Tamburrino, F.; Mongelli, P.; Percesepe, A.; Visconti, P.; Parmeggiani, A.; Seri, M.; Graziano, C. | |
| Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer | 1-gen-1997 | Viel, Alessandra; Genuardi, Maurizio; Capozzi, Eugenia; Leonardi, Francesca; Bellacosa, Alfonso; Paravatou-Petsotas, Maria; Pomponi, Maria Grazia; Fornasarig, Mara; Percesepe, Antonio; Roncucci, Luca; Tamassia, Maria Grazia; Benatti, Piero; De Leon, Maurizio Ponz; Valenti, Agostino; Covino, Marcello; Anti, Marcello; Foletto, Mirto; Boiocchi, Mauro; Neri, Giovanni | |
| Charcot-Marie-Tooth Disease with Myelin Protein Zero Mutation Presenting as Painful, Predominant Small-Fiber Neuropathy | 1-gen-2024 | Gemignani, Franco; Percesepe, Antonio; Gualandi, Francesca; Allegri, Isabella; Bellanova, Maria Federica; Nuredini, Andi; Saccani, Elena; Ambrosini, Enrico; Barili, Valeria; Uliana, Vera | |
| Circadian variations of epithelial cell proliferation in human rectal crypts | 1-gen-1994 | Marra, Giancarlo; Anti, Marcello; Percesepe, Antonio; Armelao, Franco; Ficarelli, Rita; Coco, Claudio; Rinelli, Alessandro; Vecchio, Fabio Maria; D'Arcangelo, Enzo |