Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Fiorenza Soli"'
Autor:
Charlotte Gehin, Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi, Erica H. Gerkes, Alexander P.A. Stegmann, Estrella López-Martín, Eva Bermejo-Sánchez, Beatriz Martínez-Delgado, Christiane Zweier, Cornelia Kraus, Bernt Popp, Vincent Strehlow, Daniel Gräfe, Ina Knerr, Eppie R. Jones, Stefano Zamuner, Luciano A. Abriata, Vidya Kunnathully, Brandon E. Moeller, Anthony Vocat, Samuel Rommelaere, Jean-Philippe Bocquete, Evelyne Ruchti, Greta Limoni, Marine Van Campenhoudt, Samuel Bourgeat, Petra Henklein, Christian Gilissen, Bregje W. van Bon, Rolph Pfundt, Marjolein H. Willemsen, Jolanda H. Schieving, Emanuela Leonardi, Fiorenza Soli, Alessandra Murgia, Hui Guo, Qiumeng Zhang, Kun Xia, Christina R. Fagerberg, Christoph P. Beier, Martin J. Larsen, Irene Valenzuela, Paula Fernández-Álvarez, Shiyi Xiong, Robert Śmigiel, Vanesa López-González, Lluís Armengol, Manuela Morleo, Angelo Selicorni, Annalaura Torella, Moira Blyth, Nicola S. Cooper, Valerie Wilson, Renske Oegema, Yvan Herenger, Aurore Garde, Ange-Line Bruel, Frederic Tran Mau-Them, Alexis B.R. Maddocks, Jennifer M. Bain, Musadiq A. Bhat, Gregory Costain, Peter Kannu, Ashish Marwaha, Neena L. Champaigne, Michael J. Friez, Ellen B. Richardson, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Yask Gupta, Tze Y. Lim, Simone Sanna-Cherchi, Bruno Lemaitre, Toshiyuki Yamaji, Kentaro Hanada, John E. Burke, Ana Marjia Jakšić, Brian D. McCabe, Paolo De Los Rios, Thorsten Hornemann, Giovanni D’Angelo, Vincenzo A. Gennarino
Publikováno v:
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesi
Externí odkaz:
https://doaj.org/article/47a113198d5649e88315ddec99f2067f
Autor:
Elena Rossi, Roberto Giorda, Maria Clara Bonaglia, Stefania Di Candia, Elena Grechi, Adriana Franzese, Fiorenza Soli, Francesca Rivieri, Maria Grazia Patricelli, Donatella Saccilotto, Aldo Bonfante, Sabrina Giglio, Silvana Beri, Mariano Rocchi, Orsetta Zuffardi
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e39180 (2012)
The 15q11-q13 region is characterized by high instability, caused by the presence of several paralogous segmental duplications. Although most mechanisms dealing with cryptic deletions and amplifications have been at least partly characterized, little
Externí odkaz:
https://doaj.org/article/0a8206a44a7c40d8b9fdba6c2e06f782
Autor:
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D’Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Marco Tartaglia, Marco Castori, Alessandro De Luca
Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were found in si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24f497f83927e0c02f7a9c18c6dc1c7
https://hdl.handle.net/11588/907836
https://hdl.handle.net/11588/907836
Autor:
Francesca Romana Lepri, Evelina Maines, Massimo Soffiati, Roberto Franceschi, Diego Martinelli, Giovanni Piccoli, Fiorenza Soli
Publikováno v:
Hormones. 20:623-640
The PI3K/AKT/mTOR signaling pathway is important for the regulation of multiple biological processes, including cellular growth and glucose metabolism. Defects of the PI3K/AKT/mTOR signaling pathway are not usually considered among the genetic causes
Publikováno v:
Skeletal radiology. 51(12)
Autor:
Pierpaola Tannorella, Luciano Calzari, Cecilia Daolio, Ester Mainini, Alessandro Vimercati, Davide Gentilini, Fiorenza Soli, Annalisa Pedrolli, Maria Teresa Bonati, Lidia Larizza, Silvia Russo
Publikováno v:
Clinical Epigenetics. 14
Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors. Patients carrying hypomethylation in the KCNQ1OT1:TSS DMR (11p15.5) show MLID (Multilocus Imprinting Dist
Publikováno v:
Skeletal Radiology. 51:2321-2322
Publikováno v:
Seizure. 94
Autor:
Antonio Percesepe, Luca Maria Rocchetti, Vera Uliana, Giovanni Ponti, Matteo Riva, Simona Filomena Madeo, Claudio Graziano, Livia Garavelli, Enrico Grosso, Edoardo Caleffi, Stefania Bigoni, Davide Martorana, Elena Boschi, Diana Carli, Matteo Goldoni, Francesco Pisani, Fiorenza Soli, Luca Sangiorgi
Neurofibromatosis type I, a genetic condition due to pathogenic variants in the NF1 gene, is burdened by a high rate of complications, including neoplasms, which increase morbidity and mortality for the disease. We retrospectively re-evaluated the NF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e1be9bb7262cf1f7213dac2608799d1
https://hdl.handle.net/11573/1670079
https://hdl.handle.net/11573/1670079
Autor:
Ahmed Al-Rikabi, Niels Tommerup, Krystyna H. Chrzanowska, Nehir Edibe Kurtas, Paolo Reho, Daniela Larizza, Orsetta Zuffardi, Lusine Nazaryan-Petersen, Aldesia Provenzano, Teresa Mattina, Fiorenza Soli, Massimo Delledonne, Luciano Xumerle, Thomas Liehr, Federica Natacci, Edoardo Errichiello, Emmanouil Manolakos, Silvana Guerneri, Maria Clara Bonaglia, Alfredo Brusco, Albert Schinzel, Lorena Leonardelli, Sabrina Giglio
We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a7e254bb5ee77041c542adf3c6cbb3
http://hdl.handle.net/11562/1010895
http://hdl.handle.net/11562/1010895