Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Ludovica Mercuri"'
Autor:
Domenico Dell’Edera, Arianna Allegretti, Mario Ventura, Ludovica Mercuri, Angela Mitidieri, Giacinto Cuscianna, Annunziata Anna Epifania, Elisena Morizio, Melissa Alfonsi, Paolo Guanciali-Franchi
Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-6 (2021)
Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1)
Externí odkaz:
https://doaj.org/article/79f94b5d139a46d99fd0a7884f5606e0
Autor:
Ludovica Mercuri, Donato Palmisano, Alberto L'Abbate, Pietro D'Addabbo, Francesco Montinaro, Claudia Rita Catacchio, Patrick Hasenfeld, Mario Ventura, Jan O. Korbel, Ashley D. Sanders, Flavia Angela Maria Maggiolini, Francesca Antonacci
Gibbons are the most speciose family of living apes, characterized by a diverse chromosome number and rapid rate of large-scale rearrangements. Here we performed single-cell template strand sequencing (Strand-seq), molecular cytogenetics, and deep in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35fb20e962957425808d320dad836493
http://edoc.mdc-berlin.de/22138/1/22138oa.pdf
http://edoc.mdc-berlin.de/22138/1/22138oa.pdf
Autor:
Melanie Sorensen, Yafei Mao, Sofie R. Salama, Claudia Rita Catacchio, Andy Wing Chun Pang, Françoise Thibaud-Nissen, Carl Baker, LaDeana W. Hillier, Ruiyang Li, Arvis Sulovari, Philip C. Dishuck, PingHsun Hsieh, Katherine M. Munson, Ludovica Mercuri, Jason D Fernandes, Jessica M. Storer, Joyce V. Lee, Benedict Paten, Mark A. Batzer, Peter A. Audano, David Porubsky, Tzu-Hsueh Huang, Jason G. Underwood, Evan E. Eichler, Jinna Hoffman, William T. Harvey, Kendra Hoekzema, Jerilyn A. Walker, Ian T. Fiddes, David Gordon, Marina Haukness, Alex Hastie, Alexandra P. Lewis, Francesca Antonacci, Mario Ventura, Shwetha C. Murali, Francesco Montinaro, Ilaria Piccolo, Mark Diekhans
Publikováno v:
Nature
The divergence of chimpanzee and bonobo provides one of the few examples of recent hominid speciation1,2. Here we describe a fully annotated, high-quality bonobo genome assembly, which was constructed without guidance from reference genomes by applyi
Autor:
Zguro, Kristina, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Daga, Sergio, Leoncini, Roberto, Galasso, Lucrezia, Cirianni, Michele, Rusconi, Stefano, Siano, Matteo, Francisci, Daniela, Schiaroli, Elisabetta, Luchi, Sauro, Morelli, Giovanna, Martinelli, Enrico, Girardis, Massimo, Busani, Stefano, Parisi, Saverio Giuseppe, Panese, Sandro, Piscopo, Carmelo, Capasso, Mario, Tacconi, Danilo, Spertilli Raffaelli, Chiara, Giliberti, Annarita, Gori, Giulia, Katsikis, Peter D, Lorubbio, Maria, Calzoni, Paola, Ognibene, Agostino, Bocchia, Monica, Tozzi, Monica, Bucalossi, Alessandro, Marotta, Giuseppe, Furini, Simone, Gen-Covid Multicenter Study, Null, Renieri, Alessandra, Fallerini, Chiara, GEN-COVID Multicenter Study, Mari, Francesca, Bruttini, Mirella, Meloni, Ilaria, Croci, Susanna, Gabriella, Doddato, Serio, VIOLA BIANCA, Mirjam, Lista, Maffeo, Debora, Pasquinelli, Elena, Ludovica, Mercuri, Brunelli, Giulia, Rossella, Tita, Maria Antonietta Mencarelli, LO RIZZO, Caterina, Pinto, ANNA MARIA, Ariani, Francesca, Montagnani, Francesca, Tumbarello, Mario, Ilaria, Rancan, Massimiliano, Fabbiani, Bargagli, Elena, Bergantini, Laura, D'Alessandro, Miriana, Cameli, Paolo, Bennett, David, Federico, Anedda, Simona, Marcantonio, Scolletta, Sabino, Franchi, Federico, Mazzei, MARIA ANTONIETTA, Susanna, Guerrini, Edoardo, Conticini, Cantarini, Luca, Frediani, Bruno, Marco, Feri, Alice, Donati, Raffaele, Scala, Luca, Guidelli, Genni, Spargi, Marta, Corridi, Cesira, Nencioni, Leonardo, Croci, Gian Piero Caldarelli, Davide, Romani, Paolo, Piacentini, Maria, Bandini, Elena, Desanctis, Silvia, Cappelli, Anna, Canaccini, Agnese, Verzuri, Valentina, Anemoli, Manola, Pisani, Alessandro, Pancrazzi, Massimo, Vaghi, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Mondelli, Mario U., Stefania, Mantovani, Raffaele, Bruno, Marco, Vecchia, Marcello, Maffezzoni, Sophie, Venturelli, Andrea, Cossarizza, Andrea, Antinori, Alessandra, Vergori, Arianna, Emiliozzi, Arianna, Gabrieli, Agostino, Riva, Andrea, Tommasi, Pier Giorgio Scotton, Francesca, Andretta, Stefano, Baratti, Renzo, Scaggiante, Francesca, Gatti, Francesco, Castelli, Eugenia, Quiros-Roldan, Melania Degli Antoni, Isabella, Zanella, Matteo della Monica, Roberta, Russo, Immacolata, Andolfo, Achille, Iolascon, Giuseppe, Fiorentino, Massimo, Carella, Marco, Castori, Giuseppe, Merla, Gabriella Maria Squeo, Filippo, Aucella, Pamela, Raggi, Rita, Perna, Matteo, Bassetti, Antonio Di Biagio, Maurizio, Sanguinetti, Luca, Masucci, Alessandra, Guarnaccia, Valente, Serafina, Alex Di Florio, Mandala', Marco, Giorli, Alessia, Salerni, Lorenzo, Patrizia, Zucchi, Pierpaolo, Parravicini, Elisabetta, Menatti, Tullio, Trotta, Ferdinando, Giannattasio, Gabriella, Coiro, Fabio, Lena, Gianluca, Lacerenza, Cristina, Mussini, Luisa, Tavecchia, Lia, Crotti, Gianfranco, Parati, Roberto, Menè, Maurizio, Sanarico, Gori, Marco, Nicola, Picchiotti, Francesco, Raimondi, Alessandra, Stella, Filippo, Biscarini, Tiziana, Bachetti, Maria Teresa La Rovere, Maurizio, Bussotti, Serena, Ludovisi, Katia, Capitani, Chiara, Gabbi, Simona, Dei, Sabrina, Ravaglia, Rosangela, Artuso, Elena, Andreucci, Angelica, Pagliazzi, Erika, Fiorentini, Antonio, Perrella, Francesco, Bianchi, Paola, Bergomi, Emanuele, Catena, Riccardo, Colombo, Paola, Petrocelli, Sarah, Iacopini, Sara, Modica, Silvia, Baroni, Giulia, Micheli, Marco, Falcone, Giusy, Tiseo, Chiara, Barbieri, Tommaso, Matucci, Davide, Grassi, Claudio, Ferri, Franco, Marinangeli, Francesco, Brancati, Antonella, Vincenti, Valentina, Borgo, Stefania, Lombardi, Mirco, Lenzi, Massimo Antonio Di Pietro, Francesca, Vichi, Benedetta, Romanin, Letizia, Attala, Cecilia, Costa, Andrea, Gabbuti, Alessio, Bellucci, Marta, Colaneri, Patrizia, Casprini, Cristoforo, Pomara, Massimiliano, Esposito, Marco Antonio Bellini
Publikováno v:
Viruses; Volume 14; Issue 6; Pages: 1185
Viruses, 14(6):1185. Multidisciplinary Digital Publishing Institute (MDPI)
Viruses, 14(6):1185. Multidisciplinary Digital Publishing Institute (MDPI)
Thrombosis of small and large vessels is reported as a key player in COVID-19 severity. However, host genetic determinants of this susceptibility are still unclear. Congenital Thrombotic Thrombocytopenic Purpura is a severe autosomal recessive disord
Autor:
Angela Mitidieri, Melissa Alfonsi, Ludovica Mercuri, Paolo Guanciali-Franchi, Elisena Morizio, Giacinto Cuscianna, Annunziata Anna Epifania, Domenico Dell’Edera, Mario Ventura, Arianna Allegretti
Publikováno v:
Journal of Medical Case Reports, Vol 15, Iss 1, Pp 1-6 (2021)
Journal of Medical Case Reports
Journal of Medical Case Reports
Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associ
Autor:
Mitchell R. Vollger, Xavi Guitart, Philip C. Dishuck, Ludovica Mercuri, William T. Harvey, Ariel Gershman, Mark Diekhans, Arvis Sulovari, Katherine M. Munson, Alexandra P. Lewis, Kendra Hoekzema, David Porubsky, Ruiyang Li, Sergey Nurk, Sergey Koren, Karen H. Miga, Adam M. Phillippy, Winston Timp, Mario Ventura, Evan E. Eichler
Publikováno v:
Science
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) are among the last regions of the human reference genome (GRCh38) to be fully sequenced. Using a complete telomere-to-telomere human genome (T2T-CHM13),
Autor:
Mario Ventura, William T. Harvey, Kendra Hoekzema, Ruiyang Li, David Porubsky, Philip C. Dishuck, Ludovica Mercuri, Mark Diekhans, Katherine M. Munson, Evan E. Eichler, Adam M. Phillippy, Alexandra M. Lewis, Winston Timp, Sergey Koren, Arvis Sulovari, Ariel Gershman, Guitart X, Mitchell R. Vollger, Karen H. Miga, Sergey Nurk
Despite their importance in disease and evolution, highly identical segmental duplications (SDs) have been among the last regions of the human reference genome (GRCh38) to be finished. Based on a complete telomere-to-telomere human genome (T2T-CHM13)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e4cd573950de8a0c3428c5236ff4a31c
https://doi.org/10.1101/2021.05.26.445678
https://doi.org/10.1101/2021.05.26.445678
Autor:
David H. O’Connor, Flavia Angela Maria Maggiolini, Claudia Rita Catacchio, Louis J. Picker, Nicholas Maurer, Jason G. Underwood, Jeffrey Rogers, Mitchell R. Vollger, Mark A. Batzer, Jeffrey A. Roberts, Ashley D. Sanders, Katherine M. Munson, Jessica M. Storer, Merly Escalona, Jon E. Levine, Muthuswamy Raveendran, Mario Ventura, Jason D Fernandes, Jan O. Korbel, Joseph W. Kemnitz, R. Alan Harris, Evan E. Eichler, Douglas L. Rosene, Shwetha C. Murali, Mark Diekhans, David Gordon, David Porubsky, Philip C. Dishuck, Erin L. Kinnally, LaDeana W. Hillier, Betsy Ferguson, Joel Armstrong, Chad Tomlinson, Zsofia Kovacs-Balint, Sara M Thomasy, Tina A. Graves-Lindsay, Roger W. Wiseman, Michael L. Platt, Peter A. Audano, Jerilyn A. Walker, Ian T. Fiddes, Benedict Paten, Elizabeth Devogelaere, David H. Abbott, J. H. Pate Skene, Marina Haukness, Mar M. Sanchez, Ned H. Kalin, Milinn Kremitzki, Alexandra P. Lewis, Francesca Antonacci, H. Michael Kubisch, Richard E. Green, John P. Capitanio, Yafei Mao, Sofie R. Salama, Ludovica Mercuri, Wesley C. Warren, Shelley A. Cole, Stanton B. Gray
Publikováno v:
Science
A high-quality rhesus macaque genome Genome technology has improved substantially since the first full organismal genomes were generated. Applying new technology, Warren et al. refined the genome of the rhesus macaque, a model nonhuman primate. Long-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4986bfef80c6025ffb326a061e5304a7
https://europepmc.org/articles/PMC7818670/
https://europepmc.org/articles/PMC7818670/
Autor:
Domenico Dell'Edera, Arianna Allegretti, Ardea Dell'Edera Rosalba, Maria Teresa Dell'Edera, Annunziata Anna Epifania, Ludovica Mercuri, Angela Mitidieri, Francesca Simone, Mario Ventura
Array-CGH is a powerful tool in identifying and characterizing complex genomic rearrangements when classical cytogenetics approaches are not sensible enough in detecting rearrangements smaller than 5-10 Mb. The use of Array-CGH has increased the dete
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ce1c760f34a8ba6dbb7f693efb52438
https://doi.org/10.21203/rs.3.rs-67595/v1
https://doi.org/10.21203/rs.3.rs-67595/v1
Autor:
Yafei Mao, Alexandra M. Lewis, Mario Ventura, Vladimir Larionov, Tina A. Graves-Lindsay, Mikhail Liskovykh, Adam M. Phillippy, Evan E. Eichler, Philip C. Dishuck, Melanie Sorensen, Shwetha C. Murali, Urvashi Surti, Chirag Jain, David Porubsky, Andrey Bzikadze, Ludovica Mercuri, Glennis A. Logsdon, Karen H. Miga, PingHsun Hsieh, Sergey Koren, Milinn Kremitzki, Katherine M. Munson, Leonardo G. de Lima, Carl Baker, Arang Rhie, Jennifer L. Gerton, Mitchell R. Vollger, Sergey Nurk, Kendra Hoekzema
The complete assembly of each human chromosome is essential for understanding human biology and evolution. Using complementary long-read sequencing technologies, we complete the first linear assembly of a human autosome, chromosome 8. Our assembly re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e84b62a868220b1a2eb6d63ead72005
https://doi.org/10.1101/2020.09.08.285395
https://doi.org/10.1101/2020.09.08.285395