Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Francesca Piceci Sparascio"'
Autor:
Alice Traversa, Enrica Marchionni, Agnese Giovannetti, Maria L. Genovesi, Noemi Panzironi, Katia Margiotti, Giulia Napoli, Francesca Piceci Sparascio, Alessandro De Luca, Francesco Petrizzelli, Massimo Carella, Francesco Cardona, Silvia Bernardo, Lucia Manganaro, Tommaso Mazza, Antonio Pizzuti, Viviana Caputo
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Abstract Background Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with parti
Externí odkaz:
https://doaj.org/article/dc2be2928238438d93f55dee99ed9483
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:
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:
Asier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, Ghada A. Otaify, Rasha Elhossini, Marina L. Perez-Sanz, Julián Nevado, Jair Tenorio-Castano, Juan Carlos Triviño, Francesc R. Garcia-Gonzalo, Francesca Piceci-Sparascio, Alessandro De Luca, Leopoldo Martínez, Tugba Kalaycı, Pablo Lapunzina, Umut Altunoglu, Mona Aglan, Ebtesam Abdalla, Victor L. Ruiz-Perez
Publikováno v:
Am J Hum Genet
Orofaciodigital syndrome (OFD) is a genetically heterogeneous ciliopathy characterized by anomalies of the oral cavity, face, and digits. We describe individuals with OFD from three unrelated families having bi-allelic loss-of-function variants in SC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac2eebb2fb424ec12f5591bd111872b
https://europepmc.org/articles/PMC9606384/
https://europepmc.org/articles/PMC9606384/
Autor:
Marcello Esposito, Assunta Trinchillo, Francesca Piceci-Sparascio, Maria Cecilia D'Asdia, Federica Consoli, Alessandro De Luca
Publikováno v:
Parkinsonism & Related Disorders. 111:105413
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dc8957bdbd8b0b22a2e691906f1d328
https://doi.org/10.1016/j.parkreldis.2023.105413
https://doi.org/10.1016/j.parkreldis.2023.105413
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:
Fabrizio Drago, Carolina Putotto, Bruno Marino, Paolo Versacci, Francesca Piceci Sparascio, Anwar Baban, Marcello Niceta, Flaminia Pugnaloni, Maria Cristina Digilio, Alessandro De Luca, Marta Unolt, Giulio Calcagni, Marco Tartaglia
Publikováno v:
Genes
Genes, Vol 12, Iss 1047, p 1047 (2021)
Genes, Vol 12, Iss 1047, p 1047 (2021)
Recent advances in understanding the genetic causes and anatomic subtypes of cardiac defects have revealed new links between genetic etiology, pathogenetic mechanisms and cardiac phenotypes. Although the same genetic background can result in differen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1565c826591faf81cfe04964c8904fbc
http://europepmc.org/articles/PMC8307133
http://europepmc.org/articles/PMC8307133
Autor:
Leila Bagherjad Salehi, Giorgio Iannetti, Sebastiano Bianca, Tommaso Mazza, Valentina Guida, Daniela Melis, Silvana Briuglia, Bruno Dallapiccola, Romano Tenconi, Alessandro De Luca, Francesca Piceci-Sparascio, Luigi Corsaro, Maria Teresa Fadda, Davide Gentilini, Francesca Forzano, Teresa Mattina, Enza Maria Valente, Paolo Prontera, Maria Cristina Digilio, Mario Pagnoni, Francesco Brancati, Luciano Calzari, Laura Bernardini
Publikováno v:
International Journal of Molecular Sciences
Volume 22
Issue 3
International Journal of Molecular Sciences, Vol 22, Iss 1190, p 1190 (2021)
Volume 22
Issue 3
International Journal of Molecular Sciences, Vol 22, Iss 1190, 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, oc
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, oc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac3b407c003c585cfcff505f4708fe8
http://hdl.handle.net/11697/158419
http://hdl.handle.net/11697/158419
Autor:
M. Cecilia D'Asdia, M. Cristina Digilio, Adrian Palencia-Campos, Bruno Marino, Victor L. Ruiz-Perez, Angela D'Anzi, Isabella Torrente, Jessica Rosati, Pablo Lapunzina, Francesca Piceci-Sparascio, Valentina Guida, Paolo Versacci, José A. Caparrós-Martín, Marco Tartaglia, Alessandro De Luca, Patricia Soto‐Bielicka, Silvana Briuglia
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
instname
Clinical expression of Ellis‐van Creveld syndrome (EvC) is variable and mild phenotypes have been described, including patients with mostly cardiac and limb involvement. Whether these cases are part of the EvC phenotypic spectrum or separate condit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de32b0aef1776181bb0d1b78688295b
http://hdl.handle.net/10261/232086
http://hdl.handle.net/10261/232086
Autor:
Agnese Giovannetti, Francesco Cardona, Maria Luce Genovesi, Enrica Marchionni, Viviana Caputo, Alice Traversa, Giulia Napoli, Lucia Manganaro, Katia Margiotti, Alessandro De Luca, Silvia Bernardo, Francesca Piceci Sparascio, Massimo Carella, Francesco Petrizzelli, Antonio Pizzuti, Tommaso Mazza, Noemi Panzironi
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020)
Background Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with partial ACC. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd80dd13e5b9d573d5cf7f5016730752
http://europepmc.org/articles/PMC7434725
http://europepmc.org/articles/PMC7434725