Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Antonio Petracca"'
Autor:
Gabriele Bonetti, William Cozza, Andrea Bernini, Jurgen Kaftalli, Chiara Mareso, Francesca Cristofoli, Maria Chiara Medori, Leonardo Colombo, Salvatore Martella, Giovanni Staurenghi, Anna Paola Salvetti, Benedetto Falsini, Giorgio Placidi, Marcella Attanasio, Grazia Pertile, Mario Bengala, Francesca Bosello, Antonio Petracca, Fabiana D’Esposito, Benedetta Toschi, Paolo Lanzetta, Federico Ricci, Francesco Viola, Giuseppe Marceddu, Matteo Bertelli
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 23, p 16881 (2023)
Sequencing of the low-complexity ORF15 exon of RPGR, a gene correlated with retinitis pigmentosa and cone dystrophy, is difficult to achieve with NGS and Sanger sequencing. False results could lead to the inaccurate annotation of genetic variants in
Externí odkaz:
https://doaj.org/article/8eac08075aa14a4b977811dbf2dd789f
Autor:
Rocco Pio Ortore, Maria Pia Leone, Orazio Palumbo, Antonio Petracca, Eleonora M. C. Trecca, Aurelio D’Ecclesia, Ciro Lucio Vigliaroli, Lucia Micale, Francesco Longo, Salvatore Melchionda, Marco Castori
Publikováno v:
Audiology Research, Vol 11, Iss 3, Pp 443-451 (2021)
Hearing loss (HL) affects 1–3 newborns per 1000 and, in industrialized countries, recognizes a genetic etiology in more than 80% of the congenital cases. Excluding GJB2 and GJB6, OTOA is one of the leading genes associated with autosomal recessive
Externí odkaz:
https://doaj.org/article/022434af817a417089d394876ba07f18
Autor:
Silvia Lanfranconi, Elisa Scola, Giulio Andrea Bertani, Barbara Zarino, Roberto Pallini, Giorgio d’Alessandris, Emanuela Mazzon, Silvia Marino, Maria Rita Carriero, Emma Scelzo, Giuseppe Faragò, Marco Castori, Carmela Fusco, Antonio Petracca, Leonardo d’Agruma, Laura Tassi, Piergiorgio d’Orio, Maria Grazia Lampugnani, Enrico Bjorn Nicolis, Antonella Vasamì, Deborah Novelli, Valter Torri, Jennifer Marie Theresia Anna Meessen, Rustam Al-Shahi Salman, Elisabetta Dejana, Roberto Latini, the Treat-CCM Investigators
Publikováno v:
Trials, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract Background Cerebral cavernous malformations (CCMs) are vascular malformations characterized by clusters of enlarged leaky capillaries in the central nervous system. They may result in intracranial haemorrhage, epileptic seizure(s), or focal
Externí odkaz:
https://doaj.org/article/f05152bef83d4a7394e2bd682275786c
Autor:
Maria Pia Leone, Pietro Palumbo, Johan Saenen, Sandra Mastroianno, Stefano Castellana, Cesare Amico, Tommaso Mazza, Domenico Rosario Potenza, Antonio Petracca, Marco Castori, Massimo Carella, Giuseppe Di Stolfo
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 8 (2021)
Background: Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder with an estimated prevalence between 1:2,000 and 1:5,000 and is characterized by the fibrofatty replacement of cardiomyocytes that predisposes to malignant arrhythmias, heart failu
Externí odkaz:
https://doaj.org/article/4f23d0f45da64fde90751a8808c156d6
Autor:
Brigida Anna Maiorano, Domenica Lorusso, Mauro Francesco Pio Maiorano, Davide Ciardiello, Paola Parrella, Antonio Petracca, Gennaro Cormio, Evaristo Maiello
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 7, p 3871 (2022)
Ovarian cancer (OC) has a high impact on morbidity and mortality in the female population. Survival is modest after platinum progression. Therefore, the search for new therapeutic strategies is of utmost importance. BRCA mutations and HR-deficiency o
Externí odkaz:
https://doaj.org/article/abe9f8e2323045d3bff9b9f03a3f6b9d
Autor:
Silvia Lanfranconi, Elisa Scola, Jennifer M T A Meessen, Roberto Pallini, Giulio A Bertani, Rustam Al-Shahi Salman, Elisabetta Dejana, Roberto Latini, Giorgia Abete Fornara, Nicolò M. Agnelli, Alessio Albanese, Issam Awad, Renzo Bagnati, Giovanna Balconi, Elena Ballabio, Ettore Beghi, Roberto Bernasconi, Giulio A. Bertani, Silvia Besana, Adriana Blanda, Chiara Bossi, Nereo Bresolin, Maria G. Buratti, Roberta Calabrese, Maria R. Carriero, Marco Castori, Elisa F. Ciceri, Rossella Ciurleo, Giacomo P. Comi, Valeria Contarino, Giorgio Conte, Leonardo D'Agruma, Giorgio Q. D'Alessandris, Ugo de Grazia, Rina Di Bonaventura, Piergiorgio d'Orio, Giuseppe Farago', Andreana Foresta, Carmela Fusco, Chiara Gaudino, Maria G. Lampugnani, Alessia Lanno, Francesca Lazzaroni, Cornelia Lee, Marco Locatelli, Aldo P. Maggioni, Peetra Magnusson, Matteo Malinverno, Maurizio Mangiavacchi, Antonella Mangraviti, Silvia Marino, Selene Mazzola, Enrico B. Nicolis, Deborah Novelli, Maria L. Ojeda Fernandez, Antonio Petracca, Fabrizio Pignotti, Simona Pogliani, Marco Poloni, Alessandro Prelle, Pamela Raggi, Franca Raucci, Caroline Regna-Gladin, Dario Ronchi, Emma Scelzo, Salim Seyfried, Anna Simeone, Carmelo L. Sturiale, Laura Tassi, Mauro Tettamanti, Valter Torri, Elisabeth Tournier-Lasserve, Rita Treglia, Fabio M. Triulzi, Celeste Ungaro, Elison Ursi, Gloria Valcamonica, Antonella Vasami', Barbara Zarino
Publikováno v:
2022, ' Safety and efficacy of propranolol for treatment of familial cerebral cavernous malformations (Treat_CCM) : a randomised, open-label, blinded-endpoint, phase 2 pilot trial ', Lancet Neurology, vol. 22, no. 1, pp. 35-44 . https://doi.org/10.1016/S1474-4422(22)00409-4
BACKGROUND: Observations in people with cerebral cavernous malformations, and in preclinical models of this disorder, suggest that the β-blocker propranolol might reduce the risk of intracerebral haemorrhage. We aimed to evaluate the safety and effi
Autor:
Francesco Longo, Aurelio D'Ecclesia, Marco Castori, Rocco Pio Ortore, Eleonora M C Trecca, Antonio Petracca, Salvatore Melchionda, Orazio Palumbo, Ciro Lucio Vigliaroli, Maria Pia Leone, Lucia Micale
Publikováno v:
Audiology Research
Audiology Research, Vol 11, Iss 41, Pp 443-451 (2021)
Audiology Research, Vol 11, Iss 41, Pp 443-451 (2021)
Hearing loss (HL) affects 1–3 newborns per 1000 and, in industrialized countries, recognizes a genetic etiology in more than 80% of the congenital cases. Excluding GJB2 and GJB6, OTOA is one of the leading genes associated with autosomal recessive
Autor:
Carmela Fusco, Grazia Nardella, Lucio Di Filippo, Elisabetta Dejana, Davide Cacchiarelli, Antonio Petracca, Lucia Micale, Matteo Malinverno, Marco Castori
Publikováno v:
Genes; Volume 13; Issue 6; Pages: 961
Cerebral cavernous malformations (CCM) are capillary malformations affecting the central nervous system and commonly present with headaches, epilepsy and stroke. Treatment of CCM is symptomatic, and its prevention is limited. CCM are often sporadic b
Autor:
Camilla Caldarini, Francesco Andrea Causio, Marco Castori, Matteo Cassina, Vito Guarnieri, Carmela Fusco, Tommaso Biagini, Massimiliano Copetti, Alessandro De Luca, Simona Petrucci, Bartolomeo Augello, Antonio Petracca, Annalisa Rella, Lucia Micale, Leonardo D'Agruma, Rita Fischetto, Maria Cecilia D'Asdia, F. Annunziata, Grazia Nardella, Francesco Brancati, Teresa Mattina, Mario Bengala
Publikováno v:
Human Molecular Genetics. 28:2133-2142
Hereditary multiple osteochondromas (HMO) is a rare autosomal dominant skeletal disorder, caused by heterozygous variants in either EXT1 or EXT2, which encode proteins involved in the biogenesis of heparan sulphate. Pathogenesis and genotype-phenotyp
Autor:
Marco Castori, Carmela Fusco, Marilena Carmela Di Giacomo, Grazia Nardella, Stefano Gambardella, Nicola Paciello, Stefania Zampatti, Silvia Lanfranconi, Leonardo D'Agruma, Lucia Micale, Antonio Petracca, Dario Ronchi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31704d3995d156b85274edf83149a821
https://doi.org/10.1111/cge.13944/v2/response1
https://doi.org/10.1111/cge.13944/v2/response1