Zobrazeno 1 - 10
of 335
pro vyhledávání: '"Maria, Cristina Digilio"'
Autor:
Flaminia Pugnaloni, Domenico Umberto De Rose, Maria Cristina Digilio, Monia Magliozzi, Annabella Braguglia, Laura Valfrè, Alessandra Toscano, Andrea Dotta, Alessandra Di Pede
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-8 (2024)
Abstract Background Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neon
Externí odkaz:
https://doaj.org/article/4674a37b1dbd413094568f5841ec4ec4
Autor:
Chiara Maddaloni, Sara Ronci, Domenico Umberto De Rose, Iliana Bersani, Francesca Campi, Matteo Di Nardo, Francesca Stoppa, Rachele Adorisio, Antonio Amodeo, Alessandra Toscano, Maria Cristina Digilio, Antonio Novelli, Giovanni Chello, Annabella Braguglia, Andrea Dotta, Flaminia Calzolari
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-7 (2024)
Abstract TBX4 gene, located on human chromosome 17q23.2, encodes for T-Box Transcription Factor 4, a transcription factor that belongs to the T-box gene family and it is involved in the regulation of some embryonic developmental processes, with a sig
Externí odkaz:
https://doaj.org/article/269dccdd361e471b9add201b5f98c5cd
Autor:
Valeria Marzano, Stefano Levi Mortera, Pamela Vernocchi, Federica Del Chierico, Chiara Marangelo, Valerio Guarrasi, Simone Gardini, Maria Lisa Dentici, Rossella Capolino, Maria Cristina Digilio, Maddalena Di Donato, Iolanda Spasari, Maria Teresa Abreu, Bruno Dallapiccola, Lorenza Putignani
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)
Abstract Williams–Beuren syndrome (WBS) is a rare genetic neurodevelopmental disorder with multi-systemic manifestations. The evidence that most subjects with WBS face gastrointestinal (GI) comorbidities, have prompted us to carry out a metaproteom
Externí odkaz:
https://doaj.org/article/7ae17898543048b89c1fe53a2edd7e0e
Autor:
Federica Del Chierico, Valeria Marzano, Matteo Scanu, Sofia Reddel, Maria Lisa Dentici, Rossella Capolino, Maddalena Di Donato, Iolanda Spasari, Ersilia Vita Fiscarelli, Maria Cristina Digilio, Maria Teresa Abreu, Bruno Dallapiccola, Lorenza Putignani
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Williams–Beuren syndrome (WBS) is a multisystem genetic disease caused by the deletion of a region of 1.5–1.8 Mb on chromosome 7q11.23. The elastin gene seems to account for several comorbidities and distinct clinical features such inclu
Externí odkaz:
https://doaj.org/article/4fdeefc4a03d4e9f973e7def609a7405
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:
Chiara Minotti, Ludovico Graziani, Ester Sallicandro, Maria Cristina Digilio, Roberto Falasca, Viola Alesi, Giuseppe Novelli, Maria Lisa Dentici, Sara Loddo, Antonio Novelli
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Interstitial deletions involving 6q chromosomal region are rare. Less than 30 patients have been described to date, and fewer have been characterized by high-resolution techniques, such as chromosomal microarray. Deletions involving 6q21q22.1 region
Externí odkaz:
https://doaj.org/article/144f7efe810743aeb4205d3431680495
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:
Anwar Baban, Giovanni Parlapiano, Marianna Cicenia, Michela Armando, Alessio Franceschini, Concettina Pacifico, Arianna Panfili, Gaetano Zinzanella, Antonino Romanzo, Adelaide Fusco, Martina Caiazza, Gianluigi Perri, Lorenzo Galletti, Maria Cristina Digilio, Paola Sabrina Buonuomo, Andrea Bartuli, Antonio Novelli, Massimiliano Raponi, Giuseppe Limongelli
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 11, Iss 4, p 114 (2024)
Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye
Externí odkaz:
https://doaj.org/article/8b18e6d91e9e4dc8a9270ee3bc6c4306
Autor:
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Publikováno v:
Diagnostics, Vol 14, Iss 6, p 594 (2024)
Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic var
Externí odkaz:
https://doaj.org/article/51d311315ab6471296f66aba2d74c3d4
Autor:
Francesca Campi, Domenico Umberto De Rose, Flaminia Pugnaloni, Sara Ronci, Monica Calì, Stefano Pro, Daniela Longo, Giulia Lucignani, Laura Raho, Elisa Pisaneschi, Maria Cristina Digilio, Immacolata Savarese, Iliana Bersani, Paolina Giuseppina Amante, Marta Conti, Paola De Liso, Irma Capolupo, Annabella Braguglia, Carlo Gandolfo, Andrea Dotta
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundDespite the latest advances in prenatal diagnosis and postnatal embolization procedures, intracranial arteriovenous shunts (AVSs) are still associated with high mortality and morbidity rates. Our aim was to evaluate the presentation and cli
Externí odkaz:
https://doaj.org/article/1dc7eb165c374610bb5176f5392d519a