Sfoglia per Autore
Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling
2012-01-01 Scionti, Isabella; Fabbri, Greta; Fiorillo, Chiara; Ricci, Giulia; Greco, Francesca; D'Amico, Roberto; Termanini, Alberto; Vercelli, Liliana; Tomelleri, Giuliano; Cao, Michelangelo; Santoro, Lucio; Percesepe, Antonio; Tupler, Rossella
Holoprosencephaly: Report of four cases and genotype-phenotype correlations
2013-01-01 Lami, Francesca; Carli, Diana; Ferrari, Paola; Marini, Monica; Alesi, Viola; Iughetti, Lorenzo; Percesepe, Antonio
Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements
2013-01-01 Pittalis, Maria Carla; Mattarozzi, Angela; Menozzi, Cristina; Malacarne, Michela; Baccolini, Ilaria; Farina, Antonio; Pompilii, Eva; Magini, Pamela; Percesepe, Antonio
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
New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: A genotype/auditory phenotype correlation
2014-01-01 Stanghellini, Ilaria; Genovese, Elisabetta; Palma, Silvia; Ravani, Anna; Falcinelli, Cristina; Guarnaccia, Maria Consolatrice; Percesepe, Antonio
Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients
2014-01-01 Ponti, G.; Pellacani, G.; Ruini, C.; Percesepe, Antonio; Longo, C.; Mandel, V. Desmond; Crucianelli, F.; Gorelli, G.; Tomasi, A.
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: A multivariate analysis
2014-01-01 Caramaschi, Elisa; Stanghellini, Ilaria; Magini, Pamela; Giuffrida, Maria Grazia; Scullin, Silvia; Giuva, Tiziana; Bergonzini, Patrizia; Guerra, Azzurra; Paolucci, Paolo; Percesepe, Antonio
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
VACTERL(Vertebral defects, Anal atresia,Tracheoesophageal fistula with Esophageal Atresia,Cardiac defects,renal and limb anomalies) Association:Disease spectrum in 25 patients ascertained for their upper limb involvement
2014-01-01 Diana, Carli; Lorenzo, Garagnani; Mario, Lando; Tracy, Fairplay; Bernasconi, Sergio; Antonio, Landi; Percesepe, Antonio
Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report
2014-01-01 Ponti, Giovanni; Pellacani, Giovanni; Tomasi, Aldo; Percesepe, Antonio; Guarneri, Carmelo; Guerra, Azzurra; Mandel, Victor Desmond; Kisla, Elif; Cevikel, Piril; Neri, Claudia; Menozzi, Cristina; Seidenari, Stefania
Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type
2014-01-01 Malik, Sajid; Percin, Ferda E.; Bornholdt, Dorothea; Albrecht, Beate; Percesepe, Antonio; Koch, Manuela C.; Landi, Antonio; Fritz, Barbara; Khan, Rizwan; Mumtaz, Sara; Akarsu, Nurten A.; Grzeschik, Karl Heinz
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.
Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement
2015-01-01 Lugli, Licia; Just, Walter; Genovese, Elisabetta; Palma, Silvia; Ferrari, Fabrizio; Percesepe, Antonio
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.
Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester
2015-01-01 Bertucci, Emma; Mazza, Vincenzo; Lugli, Licia; Ferrari, Fabrizio; Stanghellini, Ilaria; Percesepe, Antonio
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome
2015-01-01 Ponti, G.; Castellsagué, E.; Ruini, C.; Percesepe, Antonio; Tomasi, A.
Exome sequencing in a patient with Catele-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate
2015-01-01 Stanghellini, Ilaria; Dassi, Erik; Bertorelli, Roberto; De Sanctis, Veronica; Caleffi, Angela; Landi, Antonio; Percesepe, Antonio
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans
2015-01-01 Elmakky, Amira; Stanghellini, Ilaria; Landi, Antonio; Percesepe, Antonio
Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis
2015-01-01 Tricarico, Rossella; Cortellino, Salvatore; Riccio, Antonio; Jagmohan Changur, Shantie; Van der Klift, Heleen; Wijnen, Juul; Turner, David; Ventura, Andrea; Rovella, Valentina; Percesepe, Antonio; Lucci Cordisco, Emanuela; Radice, Paolo; Bertario, Lucio; Pedroni, Monica; de Leon, Maurizio Ponz; Mancuso, Pietro; Devarajan, Karthik; Cai, Kathy Q.; Klein Szanto, Andres J. P.; Neri, Giovanni; Møller, Pål; Viel, Alessandra; Genuardi, Maurizio; Fodde, Riccardo; Bellacosa, Alfonso
Pre- and post-natal growth in two sisters with 3-M syndrome
2016-01-01 Lugli, Licia; Bertucci, Emma; Mazza, Vincenzo; Elmakky, Amira; Ferrari, Fabrizio; Neuhaus, Christine; Percesepe, Antonio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Facioscapulohumeral muscular dystrophy: New insights from compound heterozygotes and implication for prenatal genetic counselling | 1-gen-2012 | Scionti, Isabella; Fabbri, Greta; Fiorillo, Chiara; Ricci, Giulia; Greco, Francesca; D'Amico, Roberto; Termanini, Alberto; Vercelli, Liliana; Tomelleri, Giuliano; Cao, Michelangelo; Santoro, Lucio; Percesepe, Antonio; Tupler, Rossella | |
| Holoprosencephaly: Report of four cases and genotype-phenotype correlations | 1-gen-2013 | Lami, Francesca; Carli, Diana; Ferrari, Paola; Marini, Monica; Alesi, Viola; Iughetti, Lorenzo; Percesepe, Antonio | |
| Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements | 1-gen-2013 | Pittalis, Maria Carla; Mattarozzi, Angela; Menozzi, Cristina; Malacarne, Michela; Baccolini, Ilaria; Farina, Antonio; Pompilii, Eva; Magini, Pamela; Percesepe, Antonio | |
| 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 | |
| New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: A genotype/auditory phenotype correlation | 1-gen-2014 | Stanghellini, Ilaria; Genovese, Elisabetta; Palma, Silvia; Ravani, Anna; Falcinelli, Cristina; Guarnaccia, Maria Consolatrice; Percesepe, Antonio | |
| Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients | 1-gen-2014 | Ponti, G.; Pellacani, G.; Ruini, C.; Percesepe, Antonio; Longo, C.; Mandel, V. Desmond; Crucianelli, F.; Gorelli, G.; Tomasi, A. | |
| Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: A multivariate analysis | 1-gen-2014 | Caramaschi, Elisa; Stanghellini, Ilaria; Magini, Pamela; Giuffrida, Maria Grazia; Scullin, Silvia; Giuva, Tiziana; Bergonzini, Patrizia; Guerra, Azzurra; Paolucci, Paolo; Percesepe, Antonio | |
| 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 | |
| VACTERL(Vertebral defects, Anal atresia,Tracheoesophageal fistula with Esophageal Atresia,Cardiac defects,renal and limb anomalies) Association:Disease spectrum in 25 patients ascertained for their upper limb involvement | 1-gen-2014 | Diana, Carli; Lorenzo, Garagnani; Mario, Lando; Tracy, Fairplay; Bernasconi, Sergio; Antonio, Landi; Percesepe, Antonio | |
| Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report | 1-gen-2014 | Ponti, Giovanni; Pellacani, Giovanni; Tomasi, Aldo; Percesepe, Antonio; Guarneri, Carmelo; Guerra, Azzurra; Mandel, Victor Desmond; Kisla, Elif; Cevikel, Piril; Neri, Claudia; Menozzi, Cristina; Seidenari, Stefania | |
| Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type | 1-gen-2014 | Malik, Sajid; Percin, Ferda E.; Bornholdt, Dorothea; Albrecht, Beate; Percesepe, Antonio; Koch, Manuela C.; Landi, Antonio; Fritz, Barbara; Khan, Rizwan; Mumtaz, Sara; Akarsu, Nurten A.; Grzeschik, Karl Heinz | |
| 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. | |
| Early diagnosis of branchio-oculo-facial syndrome in a patient with inner ear malformation and mild ocular involvement | 1-gen-2015 | Lugli, Licia; Just, Walter; Genovese, Elisabetta; Palma, Silvia; Ferrari, Fabrizio; Percesepe, Antonio | |
| 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. | |
| Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester | 1-gen-2015 | Bertucci, Emma; Mazza, Vincenzo; Lugli, Licia; Ferrari, Fabrizio; Stanghellini, Ilaria; Percesepe, Antonio | |
| Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome | 1-gen-2015 | Ponti, G.; Castellsagué, E.; Ruini, C.; Percesepe, Antonio; Tomasi, A. | |
| Exome sequencing in a patient with Catele-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate | 1-gen-2015 | Stanghellini, Ilaria; Dassi, Erik; Bertorelli, Roberto; De Sanctis, Veronica; Caleffi, Angela; Landi, Antonio; Percesepe, Antonio | |
| Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans | 1-gen-2015 | Elmakky, Amira; Stanghellini, Ilaria; Landi, Antonio; Percesepe, Antonio | |
| Involvement of MBD4 inactivation in mismatch repair-deficient tumorigenesis | 1-gen-2015 | Tricarico, Rossella; Cortellino, Salvatore; Riccio, Antonio; Jagmohan Changur, Shantie; Van der Klift, Heleen; Wijnen, Juul; Turner, David; Ventura, Andrea; Rovella, Valentina; Percesepe, Antonio; Lucci Cordisco, Emanuela; Radice, Paolo; Bertario, Lucio; Pedroni, Monica; de Leon, Maurizio Ponz; Mancuso, Pietro; Devarajan, Karthik; Cai, Kathy Q.; Klein Szanto, Andres J. P.; Neri, Giovanni; Møller, Pål; Viel, Alessandra; Genuardi, Maurizio; Fodde, Riccardo; Bellacosa, Alfonso | |
| Pre- and post-natal growth in two sisters with 3-M syndrome | 1-gen-2016 | Lugli, Licia; Bertucci, Emma; Mazza, Vincenzo; Elmakky, Amira; Ferrari, Fabrizio; Neuhaus, Christine; Percesepe, Antonio |
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