Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Silvia Bernardo"'
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:
Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Pizzuti
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
Abstract Background Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation wit
Externí odkaz:
https://doaj.org/article/49ec2ce020a645f7a548bb81b061a0e3
Autor:
Lucia Manganaro, Silvia Bernardo, Maria Eleonora Sergi, Paolo Sollazzo, Valeria Vinci, Alessandra De Grazia, Anna Clerico, Maria Giovanna Mollace, Matteo Saldari
Publikováno v:
Case Reports in Radiology, Vol 2013 (2013)
Burkitt's lymphoma is a rare non-Hodgkin's lymphoma which can occasionally involve the ovary and may cause confusion for the clinician since its presentation might mimic other much more frequent tumors. We present a case of a 23-year-old woman with s
Externí odkaz:
https://doaj.org/article/655970adf59e49459d2c4cae8b376cd1
Autor:
Andrew E. Timms, Danilo Dubocanin, Cira Di Gioia, Rosa Russo, Derek Dang, Kathleen J. Millen, Ozgur Oztekin, Lucia Manganaro, Alexandria H Sjoboen, Brian D Davis, Kimberly A. Aldinger, Fabien Guimiot, Ian A. Glass, Jake Millman, Evelina Silvestri, Homa Adle-Biassette, Mei Deng, Tarika Sivakumar, Parthiv Haldipur, Ferechté Razavi, Kshitij Mankad, Nathalie Roux, Joseph R. Siebert, Silvia Bernardo, Giulia Petrilli, Debora Kidron, Jasmine T. Plummer
Publikováno v:
Acta Neuropathol
Dandy-Walker malformation (DWM) and Cerebellar vermis hypoplasia (CVH) are commonly recognized human cerebellar malformations diagnosed following ultrasound and antenatal or postnatal MRI. Specific radiological criteria are used to distinguish them,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e193f803997c3ba3aa6cd76ca148ff1
https://doi.org/10.1007/s00401-021-02355-7
https://doi.org/10.1007/s00401-021-02355-7
Autor:
Roccantonio Pellegrino, Gabriele Saccone, Paola Quaresima, Costantino Di Carlo, Lucio Taranto, Sebastiano Vaccarisi, Michele Morelli, Rosanna Mazzulla, Silvia Bernardo, Roberta Venturella
Pancreatic cancer is rarely diagnosed during pregnancy; it usually manifests with symptoms such as epigastric pain, vomiting, weight loss, and jaundice, rarely mimicking the hemolysis, elevated liver enzymes, and low platelet count syndrome. It has b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77a2953adb042aac5f6e2c7a25cc63fc
http://hdl.handle.net/11588/856375
http://hdl.handle.net/11588/856375
Autor:
Daniele Guadagnolo, Francesco Petrizzelli, Silvia Bernardo, Agnese Giovannetti, Maria Luce Genovesi, Antonio Pizzuti, Massimo Carella, Noemi Panzironi, Tommaso Mazza, Enrica Marchionni, Viviana Caputo, Pietro Palumbo, Alice Traversa
Introduction Brachydactyly is a bone development abnormality presenting with variable phenotypes and different transmission patterns. Mutations in GDF5 (Growth and Differentiation Factor 5, MIM *601146) account for a significant amount of cases. Here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a5b487edddf91c27ff02f57c685b3f9
http://hdl.handle.net/11573/1493515
http://hdl.handle.net/11573/1493515
Autor:
Sandro Luziatelli, Roberta Venturella, Paola Quaresima, Marco Angeletti, Costantino Di Carlo, Davide Luziatelli, Silvia Bernardo
Pregnancy related transient osteoporosis of the hip (PR-TOH) is a rare condition that manifests with sudden pain located in the groin region, anterior thigh and buttocks. It is a benign and in the majority of cases self-limiting disease, related to b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b71e315402f35e1a9eb60ca32ffd9a6c
http://hdl.handle.net/11588/870865
http://hdl.handle.net/11588/870865
Autor:
Raquel Sastre, Sílvia Bernardo
Publikováno v:
REAd, Vol 29, Iss 3, Pp 792-814 (2023)
RESUMO Este trabalho de pesquisa se propõe a indagar sobre a estética nas organizações, a partir de uma perspectiva semiótica, e a identificar quais são as percepções que as pessoas têm sobre nove dimensões das organizações em que atuam.
Externí odkaz:
https://doaj.org/article/9712934131da4832b997de72b697ae0d
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
Publikováno v:
Pediatric Radiology. 49:82-90
Focal nodular hyperplasia and hepatic adenoma are rare liver tumors in which specific features on contrast-enhanced ultrasound (US) have been reported but are little known in children. To assess the interobserver agreement in diagnosing and different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a400684231392b35f3a6e0fa3db67ee
https://doi.org/10.1007/s00247-018-4250-5
https://doi.org/10.1007/s00247-018-4250-5