Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Silvia Genovese"'
Autor:
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 13, p 6912 (2024)
CDKL5 deficiency disorder (CDD) is an X-linked dominant epileptic encephalopathy, characterized by early-onset and drug-resistant seizures, psychomotor delay, and slight facial features. Genomic variants inactivating CDKL5 or impairing its protein pr
Externí odkaz:
https://doaj.org/article/9b6fc1d3319148d58e0da513535e2637
Autor:
Isabelle Bonomo, Giulia Assoni, Valeria La Pietra, Giulia Canarutto, Elisa Facen, Greta Donati, Chiara Zucal, Silvia Genovese, Mariachiara Micaelli, Anna Pérez-Ràfols, Sergio Robbiati, Dimitris L. Kontoyannis, Marilenia De Matteo, Marco Fragai, Pierfausto Seneci, Luciana Marinelli, Daniela Arosio, Silvano Piazza, Alessandro Provenzani
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 3 (2023)
Externí odkaz:
https://doaj.org/article/f46f5530b8b347c99a98e099c85d727f
Autor:
Viola Alesi, Silvia Genovese, Francesca Romana Lepri, Giorgia Catino, Sara Loddo, Valeria Orlando, Silvia Di Tommaso, Alessandra Morgia, Licia Martucci, Maddalena Di Donato, Maria Cristina Digilio, Bruno Dallapiccola, Antonio Novelli, Rossella Capolino
Publikováno v:
Biomolecules, Vol 13, Iss 5, p 725 (2023)
Neurofibromatosis type 1 is an autosomal-dominant condition caused by NF1 gene inactivation. Clinical diagnosis is corroborated by genetic tests on gDNA and cDNA, which are inconclusive in approximately 3–5% of cases. Genomic DNA approaches may ove
Externí odkaz:
https://doaj.org/article/e4be0266c2984e90a0a4ee3f078a4f9f
Autor:
Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu
Publikováno v:
Clinical Case Reports, Vol 9, Iss 1, Pp 314-321 (2021)
Abstract Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that
Externí odkaz:
https://doaj.org/article/b65e0d882c1745e7bb63a0a7916a67a4
Autor:
Valeria Orlando, Silvia Di Tommaso, Viola Alesi, Sara Loddo, Silvia Genovese, Giorgia Catino, Licia Martucci, Maria Cristina Roberti, Marina Trivisano, Maria Lisa Dentici, Nicola Specchio, Bruno Dallapiccola, Alessandro Ferretti, Antonio Novelli
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 21, p 12900 (2022)
Complex genomic rearrangements (CGRs) are structural variants arising from two or more chromosomal breaks, which are challenging to characterize by conventional or molecular cytogenetic analysis (karyotype and FISH). The integrated approach of standa
Externí odkaz:
https://doaj.org/article/b30727237f064007bd7132ccaffb4e19
Autor:
Anwar Baban, Viola Alesi, Monia Magliozzi, Giovanni Parlapiano, Silvia Genovese, Marianna Cicenia, Sara Loddo, Valentina Lodato, Luca Di Chiara, Fabiana Fattori, Adele D’Amico, Paola Francalanci, Antonio Amodeo, Antonio Novelli, Fabrizio Drago
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 9, Iss 10, p 332 (2022)
Filamin C is a protein specifically expressed in myocytes and cardiomyocytes and is involved in several biological functions, including sarcomere contractile activity, signaling, cellular adhesion, and repair. FLNC variants are associated with differ
Externí odkaz:
https://doaj.org/article/ef7faa1979664ab1b7f888d2edb197ac
Autor:
Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-5 (2019)
Abstract Background Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material,
Externí odkaz:
https://doaj.org/article/cb1066c694bd4ade93b7ce912dab3efc
Autor:
Viola Alesi, Francesca Sessini, Silvia Genovese, Giusy Calvieri, Ester Sallicandro, Laura Ciocca, Maura Mingoia, Antonio Novelli, Paolo Moi
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 4, p 2106 (2021)
Distal Arthrogryposis type 5D (DA5D) is characterized by congenital contractures involving the distal joints, short stature, scoliosis, ptosis, astigmatism, and dysmorphic features. It is inherited in an autosomal recessive manner, and it is a result
Externí odkaz:
https://doaj.org/article/101af6808e8a44b5b84e28de109ef196
Autor:
Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 2, p 750 (2021)
We report on a patient born to consanguineous parents, presenting with Growth Hormone Deficiency (GHD) and osteoporosis. SNP-array analysis and exome sequencing disclosed long contiguous stretches of homozygosity and two distinct homozygous variants
Externí odkaz:
https://doaj.org/article/f0433de5ca7e4e18bfb5aa4b0888bef3
Autor:
Valentina Maria Sofia, Letizia Da Sacco, Cecilia Surace, Anna Cristina Tomaiuolo, Silvia Genovese, Simona Grotta, Maria Gnazzo, Stefano Petrocchi, Laura Ciocca, Federico Alghisi, Enza Montemitro, Luigi Martemucci, Ausilia Elce, Vincenzina Lucidi, Giuseppe Castaldo, Adriano Angioni
Publikováno v:
Molecular Medicine, Vol 22, Iss 1, Pp 300-309 (2016)
Abstract Genetic features of chronic pancreatitis (CP) have been investigated extensively, mainly by testing genes associated to the trypsinogen activation pathway. However, different molecular pathways involving other genes may be implicated in CP p
Externí odkaz:
https://doaj.org/article/d180798b52a5410d8f967f2fbab8a499