Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Federica Palumbo"'
Publikováno v:
Genes, Vol 7, Iss 8, p 49 (2016)
Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability, caused by CGG expansion over 200 repeats (full mutation, FM) at the 5′ untranslated region (UTR) of the fragile X mental retardation 1 (FMR1) gene and subsequen
Externí odkaz:
https://doaj.org/article/e011afe153084326a487a5e69b2e438f
Autor:
Beatrice Grimi, Francesca Romana Grati, Anna Trotta, Cristina Agrati, Peter Benn, Federica Palumbo, Gloria Gallazzi, Jose Ferreira, Silvia Saragozza, Lara Branca, Giuseppe Simoni, Francesca Malvestiti, Sara Chinetti
Publikováno v:
Prenatal Diagnosis. 41:652-660
OBJECTIVE To provide an estimation of the probability of error when chorionic villi (CV) cytogenetic analysis is limited to a single placental layer; either a direct preparation (Dir) or long-term culture (LTC). METHODS We retrospectively reviewed cy
Autor:
Pietro Chiurazzi, Maurizio Genuardi, Giulia Stazi, Sergio Valente, Valeria Marzano, Claudio De Angelis, Marco De Spirito, Antonello Mai, Giovanni Neri, Valentina Ghisio, Federica Palumbo, Laura D'Andrea, Veronica Nobile, Elisabetta Tabolacci, Stella Lanni, Massimo Castagnola, Alberto Vitali, Laura Pacini, Rino Ragno, Giuseppe Maulucci
Publikováno v:
Human genetics 139 (2020): 227–245. doi:10.1007/s00439-019-02104-7
info:cnr-pdr/source/autori:Nobile V.; Palumbo F.; Lanni S.; Ghisio V.; Vitali A.; Castagnola M.; Marzano V.; Maulucci G.; De Angelis C.; De Spirito M.; Pacini L.; D'Andrea L.; Ragno R.; Stazi G.; Valente S.; Mai A.; Chiurazzi P.; Genuardi M.; Neri G.; Tabolacci E./titolo:Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene/doi:10.1007%2Fs00439-019-02104-7/rivista:Human genetics/anno:2020/pagina_da:227/pagina_a:245/intervallo_pagine:227–245/volume:139
info:cnr-pdr/source/autori:Nobile V.; Palumbo F.; Lanni S.; Ghisio V.; Vitali A.; Castagnola M.; Marzano V.; Maulucci G.; De Angelis C.; De Spirito M.; Pacini L.; D'Andrea L.; Ragno R.; Stazi G.; Valente S.; Mai A.; Chiurazzi P.; Genuardi M.; Neri G.; Tabolacci E./titolo:Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of the FMR1 gene/doi:10.1007%2Fs00439-019-02104-7/rivista:Human genetics/anno:2020/pagina_da:227/pagina_a:245/intervallo_pagine:227–245/volume:139
Fragile X-related disorders are due to a dynamic mutation of the CGG repeat at the 5? UTR of the FMR1 gene, coding for the RNA-binding protein FMRP. As the CGG sequence expands from premutation (PM, 56-200 CGGs) to full mutation (> 200 CGGs), FMRP sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bd88cd1ffd70119d6be7b9fc906829e
http://hdl.handle.net/11573/1390392
http://hdl.handle.net/11573/1390392
Autor:
Peter Benn, Federica Palumbo, Francesca Malvestiti, Cristina Agrati, Silvia Saragozza, Lara Branca, Beatrice Grimi, Anna Trotta, Sara Chinetti, Giuseppe Simoni, Jose Ferreira, Francesca Romana Grati, Gloria Gallazzi
Publikováno v:
Molecular Genetics and Metabolism. 132:S313
Publikováno v:
Referred Electronic Conference Proceeding. :541-555
Obiettivi . Il processo di creazione di nuove imprese risulta particolarmente complesso qualora parta da idee altamente innovative che trovano difficolta ad essere percepite come valide dai sovra sistemi. Obiettivo del presente lavoro e dimostrare ch
Autor:
Elisabetta Turco, Maria Ester Carluccio, Giambattista Lobreglio, Federica Palumbo, Katia Musio
Publikováno v:
La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine. 8:176-180
L’endocardite da Abiotrophia defectiva e una patologia rara, ma associata ad alti tassi di complicanze e mortalita. La diagnosi eziologica e complessa e insidiosa e spesso associata a emocolture negative. In letteratura sono descritti due casi in a
Autor:
Pietro Chiurazzi, Giorgia Mancano, Federica Palumbo, Stella Lanni, Giovanni Neri, Martina Goracci, Elisabetta Tabolacci
Publikováno v:
European journal of human genetics : EJHG. 24(5)
Fragile X syndrome is the most common heritable form of intellectual disability and is caused by the expansion over 200 repeats and subsequent methylation of the CGG triplets at the 5' UTR of the FMR1 gene, leading to its silencing. The epigenetic an
Autor:
Federica Palumbo, Gandolfo Dominici
Publikováno v:
Chaos, Complexity and Leadership 2013 ISBN: 9783319097091
Predictions play a key role in assuring the status of “rationality” in decisions. Nevertheless, in the field of social sciences and economics, predictions fail to correctly depict the oncoming scenarios. Why is it so difficult to achieve quantita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3660bdc04c412e0fcfeca540d9493fb3
http://hdl.handle.net/10447/103315
http://hdl.handle.net/10447/103315
Autor:
Federica Palumbo
Publikováno v:
Arias Montano. Repositorio Institucional de la Universidad de Huelva
instname
instname
The spread of digital technologies offers great potential for both the creative industries in general and for the tourism industry. The overall goal of this research is to evaluate the impact of mobile technology in augmenting and streamlining the to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61f904ab4886ae4c0a8c779e556c21b7
https://hdl.handle.net/10272/10214
https://hdl.handle.net/10272/10214
Autor:
Federica Palumbo, Gandolfo Dominici
Publikováno v:
Chaos, Complexity and Leadership 2013 ISBN: 9783319097091
By considering the tourist experience as a complex dynamic system, in this paper we depict the traveler as a kybernetes (κυβeρνήτης is the ancient Greek word for ‘sea captain’, ‘steersman’, or ‘governor’) in search of powerful to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c605ee1a97f021581b176e85db4de929
http://hdl.handle.net/10447/103317
http://hdl.handle.net/10447/103317