Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Roberta, Villa"'
Autor:
Ester Capecchi, Roberta Villa, Alessandro Pini, Maria Iascone, Laura Messina, Paola Francesca Ajmone, Fabio Mosca, Silvana Gangi, Maria Francesca Bedeschi
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-6 (2024)
Abstract Background congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hern
Externí odkaz:
https://doaj.org/article/75390b1be2584519bcf34ff6a4e4f2e3
Autor:
Delong Liu, Charles J. Billington, Neelam Raja, Zoe C. Wong, Mark D. Levin, Wulfgang Resch, Camille Alba, Daniel N. Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C. R. Parrish, Russell H. Knutsen, Sharon Osgood, Joy A. Freeman, Clifton L. Dalgard, Giuseppe Merla, Barbara R. Pober, Carolyn B. Mervis, Amy E. Roberts, Colleen A. Morris, Lucy R. Osborne, Beth A. Kozel
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 3 (2024)
Background Supravalvar aortic stenosis (SVAS) is a characteristic feature of Williams–Beuren syndrome (WBS). Its severity varies: ~20% of people with Williams–Beuren syndrome have SVAS requiring surgical intervention, whereas ~35% have no appreci
Externí odkaz:
https://doaj.org/article/e2bf0005fc8048d4b610451362a2ab88
Autor:
Giada Moresco, Maria Francesca Bedeschi, Marco Venturin, Roberta Villa, Jole Costanza, Alessia Mauri, Carlo Santaniello, Odoardo Picciolini, Laura Messina, Fabio Triulzi, Monica Rosa Miozzo, Ornella Rondinone, Laura Fontana
Publikováno v:
Genes, Vol 15, Iss 8, p 971 (2024)
Moebius syndrome (MBS) is a rare congenital disorder characterized by non-progressive facial palsy and ocular abduction paralysis. Most cases are sporadic, but also rare familial cases with autosomal dominant transmission and incomplete penetrance/va
Externí odkaz:
https://doaj.org/article/7fc0cd56908e4175957b03f0a403f7cb
Autor:
Ashley Golbus, Delong Liu, Mark Levin, Neelam Raja, Elisa Biamino, Maria Bedeschi, Maria Digilio, Gabriella Squeo, Roberta Villa, Joy Lynne Freeman, Sharon Osgood, Giuseppe Merla, Barbara Pober, Carolyn Mervis, Amy Roberts, Colleen Morris, Lucy Osborne, Beth Kozel
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101109- (2024)
Externí odkaz:
https://doaj.org/article/cb7472f1e4ca4ee68637b4da0c6a1f44
Autor:
Alessandra Consales, Beatrice Letizia Crippa, Lorenzo Colombo, Roberta Villa, Francesca Menni, Claudia Giavoli, Fabio Mosca, Maria Francesca Bedeschi
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-8 (2022)
Abstract Background CHARGE syndrome (CS) is an autosomal dominant genetic condition whose recognition in the neonatal period is complicated by considerable phenotypic variability. Pediatric patients with genetic disorders have a known high incidence
Externí odkaz:
https://doaj.org/article/35223f0de1de420da67d6c99cdd88dec
Autor:
Alessandra Consales, Giulia Ardemani, Claudia Maria Cinnante, Mariana Rita Catalano, Claudia Giavoli, Roberta Villa, Maria Iascone, Camilla Fontana, Maria Francesca Bedeschi, Monica Fumagalli
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Pallister-Hall syndrome (OMIM #146510) is a rare autosomal dominant condition caused by a mutation in the GLI3 gene. The cardinal feature of Pallister-Hall syndrome is the presence of hypothalamic hamartomas, which may manifest wi
Externí odkaz:
https://doaj.org/article/7fea35a105e94e069d3816ccf01e23fb
Autor:
Benedetta Beltrami, Jacopo Cerasani, Alessandra Consales, Roberta Villa, Nicoletta Resta, Daria Carmela Loconte, Simona Boito, Luca Caschera, Laura Bassi, Lorenzo Colombo, Maria Iascone, Maria Francesca Bedeschi
Publikováno v:
Clinical Case Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff–Parkinson–White syndrome
Externí odkaz:
https://doaj.org/article/c009a14102b44eb98c8e6aa42a0541ae
Autor:
Valentina Possenti, Barbara De Mei, Anna Kurchatova, Manfred Green, Kåre Harald Drager, Roberta Villa, Alberto d'Onofrio, Mitra Saadatian-Elahi, Vanessa Moore, Kjersti Brattekas, Pania Karnaki, Ariel Beresniak, Mircea I. Popa, Donato Greco
Publikováno v:
Frontiers in Communication, Vol 7 (2022)
Responsible Research and Innovation (RRI) associated with public health emergency preparedness (PHEP) and response pose major challenges to the scientific community and civil society because a multistakeholder and interdisciplinary methodology is nee
Externí odkaz:
https://doaj.org/article/f4c6a34733724a8a8c9d0e1916bbf53d
Autor:
Maria Francesca Bedeschi, Beatrice Letizia Crippa, Lorenzo Colombo, Martina Buscemi, Cesare Rossi, Roberta Villa, Silvana Gangi, Odoardo Picciolini, Claudia Cinnante, Viola Giulia Carlina Fergnani, Paola Francesca Ajmone, Elisa Scola, Fabio Triulzi, Fabio Mosca
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-7 (2020)
Abstract Background An early diagnosis of CHARGE syndrome is challenging, especially for the primary care physicians who often take care of neonates with multiple congenital anomalies. Here we report eight cases of CHARGE syndrome whose diagnosis was
Externí odkaz:
https://doaj.org/article/57d29e43f5e14d71bcd0eb181bdebc71
Autor:
Matteo Cinelli, Antonio Peruzzi, Ana Lucía Schmidt, Roberta Villa, Enrico Costa, Walter Quattrociocchi, Fabiana Zollo
Publikováno v:
PLoS ONE, Vol 17, Iss 10 (2022)
The COVID-19 pandemic made explicit the issues of communicating science in an information ecosystem dominated by social media platforms. One of the fundamental communication challenges of our time is to provide the public with reliable content and co
Externí odkaz:
https://doaj.org/article/c23c94cf084e4329864a344ded61264c