Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Maria C. Digilio"'
Autor:
Giulia Lazzaro, Cristina Caciolo, Deny Menghini, Francesca Cumbo, Maria C. Digilio, Rossella Capolino, Giuseppe Zampino, Marco Tartaglia, Stefano Vicari, Paolo Alfieri
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
Abstract Background Noonan Syndrome is a developmental disorder characterized by a distinctive phenotype including facial dysmorphism, webbed neck, short stature, heart defects, and variable cognitive deficits as major features. Over the years, neuro
Externí odkaz:
https://doaj.org/article/c76ea86841ba4271b0ef9d4e8607e5fd
Autor:
Amy Hardcastle, Aliska M. Berry, Ian M. Campbell, Xiaonan Zhao, Pengfei Liu, Amanda E. Gerard, Jill A. Rosenfeld, Saumya D. Sisoudiya, Andres Hernandez‐Garcia, Sara Loddo, Silvia Di Tommaso, Antonio Novelli, Maria L. Dentici, Rossella Capolino, Maria C. Digilio, Ludovico Graziani, Cecilie F. Rustad, Katherine Neas, Giovanni B. Ferrero, Alfredo Brusco, Eleonora Di Gregorio, Diana Wellesley, Claire Beneteau, Madeleine Joubert, Kris Van Den Bogaert, Anneleen Boogaerts, Dominic J. McMullan, John Dean, Maria G. Giuffrida, Laura Bernardini, Vinod Varghese, Nora L. Shannon, Rachel E. Harrison, Wayne W. K. Lam, Shane McKee, Peter D. Turnpenny, Trevor Cole, Jenny Morton, Jacqueline Eason, Marilyn C. Jones, Rebecca Hall, Michael Wright, Karen Horridge, Chad A. Shaw, Wendy K. Chung, Daryl A. Scott
Publikováno v:
American Journal of Medical Genetics Part A. 188:2958-2968
Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases. This is due, in part, to an incomplete understanding of the genes th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ff6c6c10bf462c0911cb2f912bb59f1
https://doi.org/10.1002/ajmg.a.62919
https://doi.org/10.1002/ajmg.a.62919
Autor:
Michele CALLEA, Emanuele BELLACCHIO, Francisco CAMMARATA SCALISI, Jinia EL FEGHALY, Rabab K. EL-GHANDOUR, Andrea AVENDAÑO, Yasemine YAVUZ, Andrea DIOCIAIUTI, Maria C. DIGILIO, Mariateresa DI STAZIO, Antonio NOVELLI, Teresa ORANGES, Cesare FILIPPESCHI, Elisa PISANESCHI, Houweyda JILANI, Francesca GIGOLA, Colin E. WILLOUGHBY, Antonino MORABITO
Publikováno v:
Italian Journal of Dermatology and Venereology. 158
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58c6a76d8721df7b16a8f03f188a3e28
https://doi.org/10.23736/s2784-8671.23.07540-0
https://doi.org/10.23736/s2784-8671.23.07540-0
Autor:
Marianna Cicenia, Viola Alesi, Valeria Orlando, Monia Magliozzi, Silvia Di Tommaso, Francesca G. Iodice, Emanuela Pompei, Alessandra Toscano, Maria C. Digilio, Fabrizio Drago, Antonio Novelli, Anwar Baban
Publikováno v:
American Journal of Medical Genetics Part A. 188:883-895
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92b997c5e3f07e6f77f8e69087e6699e
https://doi.org/10.1002/ajmg.a.62598
https://doi.org/10.1002/ajmg.a.62598
Autor:
Marianna, Cicenia, Viola, Alesi, Valeria, Orlando, Monia, Magliozzi, Silvia, Di Tommaso, Francesca G, Iodice, Emanuela, Pompei, Alessandra, Toscano, Maria C, Digilio, Fabrizio, Drago, Antonio, Novelli, Anwar, Baban
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(3)
Deletions involving the distal portion of the short arm of chromosome 8(8p23.1) show a high phenotypic variability. Congenital heart diseases (CHD) are often described. GATA4 when mutated or deleted is reported to be involved in cardiac morphogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1f334a0bc5bd1927e5b9d3f987347cf2
https://pubmed.ncbi.nlm.nih.gov/34897976
https://pubmed.ncbi.nlm.nih.gov/34897976
Autor:
Luca Pannone, Gianfranco Bocchinfuso, Elisabetta Flex, Cesare Rossi, Giuseppina Baldassarre, Christina Lissewski, Francesca Pantaleoni, Federica Consoli, Francesca Lepri, Monia Magliozzi, Massimiliano Anselmi, Silvia Delle Vigne, Giovanni Sorge, Kadri Karaer, Goran Cuturilo, Alessandro Sartorio, Sigrid Tinschert, Maria Accadia, Maria C. Digilio, Giuseppe Zampino, Alessandro De Luca, Hélène Cavé, Martin Zenker, Bruce D. Gelb, Bruno Dallapiccola, Lorenzo Stella, Giovanni B. Ferrero, Simone Martinelli, Marco Tartaglia
Publikováno v:
Human Mutation. 38:i-i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a6d4e78046a79035ab88f8ea1782a8a
https://doi.org/10.1002/humu.23215
https://doi.org/10.1002/humu.23215
Autor:
Ilaria Di Lelio, Giobbe Forni, Giulia Magoga, Matteo Brunetti, Daniele Bruno, Andrea Becchimanzi, Maria G. De Luca, Martina Sinno, Eleonora Barra, Marco Bonelli, Sarah Frusciante, Gianfranco Diretto, Maria C. Digilio, Sheridan L. Woo, Gianluca Tettamanti, Rosa Rao, Matteo Lorito, Morena Casartelli, Matteo Montagna, Francesco Pennacchio
Publikováno v:
Proceedings of the National Academy of Sciences. 120(10)
Plants generate energy flows through natural food webs, driven by competition for resources among organisms, which are part of a complex network of multitrophic interactions. Here, we demonstrate that the interaction between tomato plants and a phyto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb814df0c070e913b09f4fb677136a1