Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Filomena Tiziana Papa"'
Autor:
Federico Gabrielli, Filomena Tiziana Papa, Fabio Di Pietro, Andreu Paytuví-Gallart, Daniel Julian, Walter Sanseverino, Cinzia Alfonsi
Publikováno v:
International Journal of Genomics, Vol 2024 (2024)
Conclusion: MaterniCode has proven to be an innovative and highly efficient tool in the domain of NIPT, demonstrating excellent sensitivity and specificity. Its robust capability to effectively detect a wide range of complex chromosomal aberrations,
Externí odkaz:
https://doaj.org/article/bcc8d43d62f84f60a2097bf4b99491a3
Autor:
Domenico Schiano-Lomoriello, Irene Abicca, Laura Contento, Federico Gabrielli, Cinzia Alfonsi, Fabio Di Pietro, Filomena Tiziana Papa, Antonio Ballesteros-Sánchez, José-María Sánchez-González, Carlos Rocha-De-Lossada, Cosimo Mazzotta, Giuseppe Giannaccare, Chiara Bonzano, Davide Borroni
Publikováno v:
Biomolecules, Vol 14, Iss 4, p 389 (2024)
Purpose: To characterize microbial keratitis diversity utilizing species richness and Shannon Diversity Index. Methods: Corneal impression membrane was used to collect samples. All swabs were processed and analyzed by Biolab Laboratory (level V—SSN
Externí odkaz:
https://doaj.org/article/8577d846e41c4f4cb08cf674d8cefce9
Autor:
Gabriella Doddato, Floriana Valentino, Annarita Giliberti, Filomena Tiziana Papa, Rossella Tita, Lucia Pia Bruno, Sara Resciniti, Chiara Fallerini, Elisa Benetti, Maria Palmieri, Maria Antonietta Mencarelli, Alessandra Fabbiani, Mirella Bruttini, Alfredo Orrico, Margherita Baldassarri, Francesca Fava, Diego Lopergolo, Caterina Lo Rizzo, Vittoria Lamacchia, Sara Mannucci, Anna Maria Pinto, Aurora Currò, Virginia Mancini, Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese, Azienda Usl Toscana Sud Est, Francesca Mari, Alessandra Renieri, Francesca Ariani
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Externí odkaz:
https://doaj.org/article/222765f2d69c44eba94a222ef417898e
Autor:
Gabriella Doddato, Floriana Valentino, Annarita Giliberti, Filomena Tiziana Papa, Rossella Tita, Lucia Pia Bruno, Sara Resciniti, Chiara Fallerini, Elisa Benetti, Maria Palmieri, Maria Antonietta Mencarelli, Alessandra Fabbiani, Mirella Bruttini, Alfredo Orrico, Margherita Baldassarri, Francesca Fava, Diego Lopergolo, Caterina Lo Rizzo, Vittoria Lamacchia, Sara Mannucci, Anna Maria Pinto, Aurora Currò, Virginia Mancini, Oncologic Multidisciplinary Team, Azienda Ospedaliera Universitaria Senese, Oncologic Multidisciplinary Team, Azienda Usl Toscana Sud Est, Francesca Mari, Alessandra Renieri, Francesca Ariani, Alessandro Neri, Donato Casella, Andrea Bernini, Stefania Marsili, Roberto Petrioli, Salvatora Tindara Miano, Alessandra Pascucci, Ignazio Martellucci, Monica Crociani, Marta Vannini, Federica Fantozzi, Andrea Stella, Alessia Carmela Tripodi, Angelamaria Giusti, Alfonso Fausto, Lucia Mantovani, Francesca Belardi
Publikováno v:
Frontiers in Oncology, Vol 11 (2021)
Hereditary Breast and Ovarian Cancer (HBOC) syndrome is a condition in which the risk of breast and ovarian cancer is higher than in the general population. The prevalent pathogenesis is attributable to inactivating variants of the BRCA1-2 highly pen
Externí odkaz:
https://doaj.org/article/ca4532e26c24440eb12237fb2fc7eb0a
Autor:
Sergio Daga, Vittoria Lamacchia, Caterina Lo Rizzo, Francesco Donati, Francesca Niccheri, Filomena Tiziana Papa, Diego Lopergolo, Susanna Croci, Elisa Benetti, Miriam Lucia Carriero, Elisa Frullanti, Rossella Tita, Ilaria Meloni, Alessandra Renieri, Simone Furini, Katia Capitani, Silvestro G. Conticello, Annarita Giliberti
Publikováno v:
European Journal of Human Genetics
Variations in the Forkhead Box G1 (FOXG1) gene cause FOXG1 syndrome spectrum, including the congenital variant of Rett syndrome, characterized by early onset of regression, Rett-like and jerky movements, and cortical visual impairment. Due to the lar
Autor:
Anna Maria Pinto, Arianna Calonaci, Daniela Galimberti, Alessandra Renieri, Flavia Privitera, Francesca Ariani, Francesca Mari, Gabriella Doddato, Margherita Baldassarri, Ilaria Longo, Sonia De Francesco, Filomena Tiziana Papa, Mauro Caini, Theodora Hadjistilianou
Publikováno v:
Genes
Volume 12
Issue 9
Genes, Vol 12, Iss 1318, p 1318 (2021)
Volume 12
Issue 9
Genes, Vol 12, Iss 1318, p 1318 (2021)
Retinoblastoma (RB) is an ocular tumor of the pediatric age caused by biallelic inactivation of the RB1 gene (13q14). About 10% of cases are due to gross-sized molecular deletions. The deletions can involve the surrounding genes delineating a contigu
Autor:
Gianni Coriolani, Salvatore Grosso, Filomena Tiziana Papa, Francesca Mari, Annarita Giliberti, Francesca Ariani, Elisa Frullanti, Alessandra Renieri, Aurora Currò
Myeloid ecotropic insertion site 2 (MEIS2) gene, encoding a homeodomain-containing transcription factor, has been recently related to syndromic intellectual disability with cleft palate and cardiac defects. Here, we present a male patient, aged 10, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9139294e1e9b52f382e67079a36621d
http://hdl.handle.net/11365/1078694
http://hdl.handle.net/11365/1078694
Autor:
Rajni Khajuria, Maria Pintaudi, Silvia Russo, Angus John Clarke, Nadia Bahi-Buisson, Barbara Montomoli, Laurent Villard, Victoria Voinova, Bruria Ben-Zeev, Kirstine Ravn, Edvige Veneselli, Thierry Bienvenu, Elisa Grillo, Francesca Cogliati, Vlatka Mejaški Bošnjak, Giorgio Pini, Mercedes Pineda, Milena Djuric, Caterina Lo Rizzo, Andreea Nissenkorn, Aglaia Vignoli, Joussef Hayek, Anne Marie Bisgaard, Dana Craiu, Alessandra Renieri, Kinga Hadzsiev, Elisa Frullanti, Aleksandra Djukic, Ana Roche Martínez, Francesca Mari, Judith Armstrong, Filomena Tiziana Papa
Publikováno v:
International journal of genomics
International journal of genomics, Hindawi Publishing Corporation, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
INTERNATIONAL JOURNAL OF GENOMICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
International journal of genomics, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
International Journal of Genomics, Vol 2019 (2019)
International Journal of Genomics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
International journal of genomics, Hindawi Publishing Corporation, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
INTERNATIONAL JOURNAL OF GENOMICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
International journal of genomics, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
International Journal of Genomics, Vol 2019 (2019)
International Journal of Genomics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 is the major causative gene. In addition, CDKL5 and FOXG1 mutations have been reported in Rett patients, espec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e1d23d18d3ea345b75cd863d42e133
https://hal-amu.archives-ouvertes.fr/hal-02417606
https://hal-amu.archives-ouvertes.fr/hal-02417606
Autor:
Margherita Baldassarri, Alessandra Renieri, Chiara Fallerini, Francesca Mari, Maria Margherita Mancardi, Filomena Tiziana Papa, Laura Zalba-Jadraque, Veronica Della Chiara, Alessandra Gamucci, Elisa Frullanti, Edvige Veneselli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13e31dd9392e07f62212d35b4c106e71
http://hdl.handle.net/11365/1033379
http://hdl.handle.net/11365/1033379
Autor:
Keith W. Dunaway, Michele Zappella, Marzia Pollazzon, Mafalda Mucciolo, Rosangela Artuso, Maria Antonietta Mencarelli, Filomena Tiziana Papa, Francesca Mari, Elisa Grillo, Dag H. Yasui, Giuseppe Hayek, Francesca Ariani, Janine M. LaSalle, Alessandra Renieri, Vittoria Disciglio
Publikováno v:
Journal of Human Genetics. 57:342-344