Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Simona Grotta"'
Autor:
Valentina Maria Sofia, Letizia Da Sacco, Cecilia Surace, Anna Cristina Tomaiuolo, Silvia Genovese, Simona Grotta, Maria Gnazzo, Stefano Petrocchi, Laura Ciocca, Federico Alghisi, Enza Montemitro, Luigi Martemucci, Ausilia Elce, Vincenzina Lucidi, Giuseppe Castaldo, Adriano Angioni
Publikováno v:
Molecular Medicine, Vol 22, Iss 1, Pp 300-309 (2016)
Abstract Genetic features of chronic pancreatitis (CP) have been investigated extensively, mainly by testing genes associated to the trypsinogen activation pathway. However, different molecular pathways involving other genes may be implicated in CP p
Externí odkaz:
https://doaj.org/article/d180798b52a5410d8f967f2fbab8a499
Autor:
Adriano Angioni, Cecilia Surace, Valentina Maria Sofia, Stefano Petrocchi, Anna Cristina Tomaiuolo, Simona Grotta, Fabio Majo, Silvia Genovese, Vincenzina Lucidi, F. Alghisi
Publikováno v:
The Journal of Molecular Diagnostics. 17:171-178
Cystic fibrosis (CF), the most common autosomal recessive disease in whites, is caused by mutations in the CF transmembrane conductance regulator (CFTR). So far, >1900 mutations have been described, most of which are nonsense, missense, and frameshif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4aa03763c1545bf253edb8235d1e489
https://doi.org/10.1016/j.jmoldx.2014.11.007
https://doi.org/10.1016/j.jmoldx.2014.11.007
Autor:
Silvia Genovese, Anna Cristina Tomaiuolo, Cecilia Surace, Luigi Martemucci, Enza Montemitro, Giuseppe Castaldo, Ausilia Elce, Stefano Petrocchi, Laura Ciocca, Simona Grotta, Letizia Da Sacco, Adriano Angioni, Valentina Maria Sofia, Maria Gnazzo, F. Alghisi, Vincenzina Lucidi
Publikováno v:
Molecular Medicine, Vol 22, Iss 1, Pp 300-309 (2016)
Genetic features of chronic pancreatitis (CP) have been investigated extensively, mainly by testing genes associated to the trypsinogen activation pathway. However, different molecular pathways involving other genes may be implicated in CP pathogenes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2d91e5b65329d4c9e0237a34c71980a
http://hdl.handle.net/11588/668319
http://hdl.handle.net/11588/668319
Autor:
Antonella Sgura, Cecilia Surace, Adriano Angioni, Serena Russo, Andrea Masotti, Raffaella Cusmai, Simona Grotta, Letizia Da Sacco, Maria Cristina Digilio, Stefano Petrocchi, Francesco Berardinelli, Pietro Sirleto, Elisa Pisaneschi, Laura Ciocca, May El Hachem, Maria Cristina Roberti, Gemma D'Elia, Francesca Romana Lepri
Publikováno v:
Epigenetics & Chromatin
BACKGROUND: Ring chromosome 17 syndrome is a rare disease that arises from the breakage and reunion of the short and long arms of chromosome 17. Usually this abnormality results in deletion of genetic material, which explains the clinical features of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa9ae0e374fa03f1c561bedfc14b1e75
http://europepmc.org/articles/PMC3892072
http://europepmc.org/articles/PMC3892072
Autor:
Cecilia Surace, Rossana Scavelli, Silvia Genovese, Serena Russo, Paola Valente, Simona Grotta, Raffaele Cozza, Adriano Angioni, Laura Ciocca, Anna Cristina Tomaiuolo, Franco Locatelli, Maria Antonietta De Ioris, Francesca Romana Lepri, Antonino Romanzo, Gemma D'Elia, Pietro Sirleto, Tiziana Franchin
Publikováno v:
BMC Cancer
Background Retinoblastoma (RB) is the most common malignant childhood tumor of the eye and results from inactivation of both alleles of the RB1 gene. Nowadays RB genetic diagnosis requires classical chromosome investigations, Multiplex Ligation-depen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b035850192244833c86730b62c2c192b
Autor:
Bruno Dallapiccola, Maria Gnazzo, Pietro Sirleto, Serena Russo, Tiziana Franchin, Rossella Capolino, Francesca Romana Lepri, Elisa Pisaneschi, Adriano Angioni, Maria Lisa Dentici, Simona Grotta, Maria Cristina Digilio, Rossana Scavelli, Anwar Baban
Publikováno v:
BMC Medical Genetics
Background Noonan syndrome is an autosomal dominant developmental disorder with a high phenotypic variability, which shares clinical features with other rare conditions, including LEOPARD syndrome, cardiofaciocutaneous syndrome, Noonan-like syndrome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::408611798445da3d97774ffd7d56d322