Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Daniela Orteschi"'
Autor:
Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri, Elisabetta Sforza, Francesca Leonardi, Germana Viscogliosi, Ilaria Contaldo, Daniela Orteschi, Luca Proietti, Giuseppe Zampino, Roberta Onesimo
Publikováno v:
Genes, Vol 15, Iss 3, p 346 (2024)
Background: Among aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asym
Externí odkaz:
https://doaj.org/article/97f51af9587d4ca7b49084700c41fa6c
Autor:
Domizia Pasquetti, Annalisa Gazzellone, Salvatore Rossi, Daniela Orteschi, Federica Francesca L’Erario, Paola Concolino, Angelo Minucci, Carlo Dionisi-Vici, Maurizio Genuardi, Gabriella Silvestri, Pietro Chiurazzi
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 1, p 495 (2023)
We describe the complex case of a 44-year-old man with polycystic kidney disease, mild cognitive impairment, and tremors in the upper limbs. Brain MRI showed lesions compatible with leukodystrophy. The diagnostic process, which included clinical exom
Externí odkaz:
https://doaj.org/article/c95da00ab153424fbb1f74adc32538f8
Autor:
Silvia D’Ippolito, Giuliana Longo, Daniela Orteschi, Andrea Busnelli, Nicoletta Di Simone, Eleonora Pulcinelli, Giorgia Schettini, Giovanni Scambia, Marcella Zollino
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 12, p 3898 (2023)
(1) Background: The aim of our study is to evaluate whether cell-free DNA testing can overlap the genetic testing of miscarriage tissue in women with early pregnancy loss (EPL) and length of recurrent pregnancy loss (RPL); (2) Methods: We conducted a
Externí odkaz:
https://doaj.org/article/dee0bfc334d0489ab47341b357eb447a
Autor:
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Marco Luigetti, Maria Alessandra Marrucci, Marcella Zollino, Mario Sabatelli, Giuseppe Marangi
Publikováno v:
Stem Cell Research, Vol 62, Iss , Pp 102825- (2022)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that selectively affects motor neurons. In 20% of cases, ALS appears in comorbidity with frontotemporal dementia (FTD). We generated patient-derived-induced Pluripotent Stem Cel
Externí odkaz:
https://doaj.org/article/2f475bb91d774b3dad6f12057bae2464
Autor:
Domizia Pasquetti, Giuseppe Marangi, Daniela Orteschi, Marina Carapelle, Federica Francesca L’Erario, Romina Venditti, Sabrina Maietta, Domenica Immacolata Battaglia, Ilaria Contaldo, Chiara Veredice, Marcella Zollino
Publikováno v:
Genes, Vol 14, Iss 2, p 245 (2023)
Neuronal ceroid lipofuscinoses (CNL) are lysosomal storage diseases that represent the most common cause of dementia in children. To date, 13 autosomal recessive (AR) and 1 autosomal dominant (AD) gene have been characterized. Biallelic variants in M
Externí odkaz:
https://doaj.org/article/3f9a43e1ff1d4635b2f0d6ffb4670395
Autor:
Francesco Martello, Serena Lattante, Paolo Niccolò Doronzio, Amelia Conte, Giulia Bisogni, Daniela Orteschi, Filomena Pirozzi, Mario Sabatelli, Marcella Zollino, Giuseppe Marangi
Publikováno v:
Stem Cell Research, Vol 55, Iss , Pp 102461- (2021)
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease affecting upper and lower motor neurons. We generated patient-derived-induced Pluripotent Stem Cells (iPSCs), from an ALS patient affected by an early-onset and aggressive
Externí odkaz:
https://doaj.org/article/09de13cc8c8544ea972ad8fd83227b78
Autor:
Elisabetta Tabolacci, Maria Grazia Pomponi, Laura Remondini, Roberta Pietrobono, Daniela Orteschi, Veronica Nobile, Cecilia Pucci, Elisa Musto, Marika Pane, Eugenio M. Mercuri, Giovanni Neri, Maurizio Genuardi, Pietro Chiurazzi, Marcella Zollino
Publikováno v:
Genes, Vol 12, Iss 12, p 1909 (2021)
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and autism caused by the instability of a CGG trinucleotide repeat in exon 1 of the FMR1 gene. The co-occurrence of FXS with other genetic disorders has only been o
Externí odkaz:
https://doaj.org/article/644581f694224ea4a2ccb1fea2cc246b
Autor:
Giuseppe Marangi, Simone Garcovich, Gabriele Di Sante, Daniela Orteschi, Silvia Frangella, Franco Scaldaferri, Maurizio Genuardi, Ketty Peris, Fiorella Gurrieri, Marcella Zollino
Publikováno v:
Acta Dermato-Venereologica, Vol 100, Iss 1, p adv00038 (2020)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/f1935db429e74f6db14c297da5dd4a12
Autor:
Marcella Zollino, Serena Lattante, Daniela Orteschi, Silvia Frangella, Paolo N. Doronzio, Ilaria Contaldo, Eugenio Mercuri, Giuseppe Marangi
Publikováno v:
Frontiers in Neuroscience, Vol 11 (2017)
Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15–30% of cases craniosyn
Externí odkaz:
https://doaj.org/article/049c0b488b2b46e7be56fb766b243614
Autor:
Silvia D'ippolito, Nicoletta Di Simone, Daniela Orteschi, Maria Grazia Pomponi, Maurizio Genuardi, Leuconoe Grazia Sisti, Roberta Castellani, Esther Diana Rossi, Giovanni Scambia, Marcella Zollino
Publikováno v:
PLoS ONE, Vol 12, Iss 6, p e0178113 (2017)
To investigate whether miscarried embryo/fetal crown rump length (CRL) measurement may yield a practical application for predicting a conclusive result at the cytogenetic analysis of miscarriage tissue. Our study might help in improving the cytogenet
Externí odkaz:
https://doaj.org/article/4dff10a82de144a1bbc55c5416ba349d