Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Valentina Guida"'
Autor:
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures deri
Externí odkaz:
https://doaj.org/article/1d57089cec0e40f9ac05f0b75d18ed43
Autor:
Andrea Frustaci, Alessandro De Luca, Romina Verardo, Valentina Guida, Maria Alfarano, Camilla Calvieri, Luigi Sansone, Matteo Antonio Russo, Cristina Chimenti
Publikováno v:
Biomedicines, Vol 12, Iss 5, p 1060 (2024)
Darier disease (DD) is an autosomal dominant disorder due to pathogenic variants of the ATP2A2 gene that causes an isolated skin manifestation based on keratinocyte disconnection and apoptosis. Systemic manifestations of DD have not been demonstrated
Externí odkaz:
https://doaj.org/article/9389299d5a2a459a84e53cae25b945bc
Autor:
Andrea Frustaci, Alessandro De Luca, Nicola Galea, Romina Verardo, Valentina Guida, Rosalba Carrozzo, Cristina Chimenti, Emanuela Frustaci, Luigi Sansone, Matteo Antonio Russo
Publikováno v:
ESC Heart Failure, Vol 8, Iss 3, Pp 2310-2315 (2021)
Abstract We report a novel cardiomyopathy associated to Usher syndrome and related to combined mutation of MYO7A and Calreticulin genes. A 37‐year‐old man with deafness and vision impairment because of retinitis pigmentosa since childhood and a M
Externí odkaz:
https://doaj.org/article/5424ca9909b44b2cb49c53b0d9ef5ee9
Autor:
Fabio Sirchia, Ilaria Fantasia, Agnese Feresin, Elisa Giorgio, Flavio Faletra, Denise Mordeglia, Moira Barbieri, Valentina Guida, Alessandro De Luca, Tamara Stampalija
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-6 (2021)
Abstract Background Cerebro-oculo-facio-skeletal syndrome (COFS) is a severe and progressive neurologic condition characterized by prenatal onset of arthrogryposis, cataract, microcephaly and growth failure. The aim of this study was to present a cas
Externí odkaz:
https://doaj.org/article/95048ce89ad849988e515a5474966e3a
Autor:
Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 3, p 1190 (2021)
Oculo-auriculo-vertebral-spectrum (OAVS; OMIM 164210) is a rare disorder originating from abnormal development of the first and second branchial arch. The clinical phenotype is extremely heterogeneous with ear anomalies, hemifacial microsomia, ocular
Externí odkaz:
https://doaj.org/article/85266ac91354400bba77ed6746278dbb
Autor:
Andrea Frustaci, Alessandro De Luca, Valentina Guida, Tommaso Biagini, Tommaso Mazza, Carlo Gaudio, Claudio Letizia, Matteo Antonio Russo, Nicola Galea, Cristina Chimenti
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 7, Iss 4 (2018)
BackgroundMutations of α‐actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction. A novel ACTC mutation i
Externí odkaz:
https://doaj.org/article/3612e55b99d2406da57fbde9dd5b0d0c
Autor:
Alessia Colosimo, Valentina Guida, Ivana Antonucci, Tiziana Bonfini, Liborio Stuppia, Bruno Dallapiccola
Publikováno v:
Haematologica, Vol 92, Iss 1 (2007)
Gene therapy has been proposed as a definitive cure for β-thalassemia. We applied a gene targeting approach, based on the introduction of small DNA fragments (SDF) into erythroid progenitor cells, to specifically modify the β-globin gene sequence a
Externí odkaz:
https://doaj.org/article/0c860f53571d48e783dbf5d7cf347279
Autor:
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D’Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Marco Tartaglia, Marco Castori, Alessandro De Luca
Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were found in si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24f497f83927e0c02f7a9c18c6dc1c7
https://hdl.handle.net/11588/907836
https://hdl.handle.net/11588/907836
Autor:
Maria Teresa Fadda, Sebastiano Bianca, Dario Cocciadiferro, Bruno Dallapiccola, Marina Goldoni, Maria Grazia Giuffrida, Bruno Marino, Silvana Briuglia, Marco Tartaglia, Leila B. Salehi, Valentina Guida, Francesca Forzano, Orazio Palumbo, Francesco Benedicenti, Francesco Pancheri, Franco Stanzial, Laura Bernardini, Daniela Melis, Marco Castori, Giorgio Iannetti, Teresa Mattina, Marianna Puzzo, Hossein Hozhabri, Chiara Barone, Massimo Carella, Carolina Putotto, Alessandro De Luca, Francesca Piceci Sparascio, Maria Cristina Digilio, Francesco Brancati, Mario Pagnoni, Ariana Kariminejad
Publikováno v:
Clinical Genetics. 100:268-279
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4290cfd085a866475ffc40148db4226a
https://doi.org/10.1111/cge.13994
https://doi.org/10.1111/cge.13994
Autor:
Romina Verardo, Nicola Galea, Rosalba Carrozzo, Alessandro De Luca, Andrea Frustaci, Luigi Sansone, Cristina Chimenti, Emanuela Frustaci, Valentina Guida, Matteo Antonio Russo
Publikováno v:
ESC Heart Failure
ESC Heart Failure, Vol 8, Iss 3, Pp 2310-2315 (2021)
ESC Heart Failure, Vol 8, Iss 3, Pp 2310-2315 (2021)
We report a novel cardiomyopathy associated to Usher syndrome and related to combined mutation of MYO7A and Calreticulin genes. A 37‐year‐old man with deafness and vision impairment because of retinitis pigmentosa since childhood and a MYO7A gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4987374d42ffac9e7c59afedc70c1cb4
http://europepmc.org/articles/PMC8120391
http://europepmc.org/articles/PMC8120391