Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Marina Goldoni"'
Autor:
Maria Novelli, Valeria Mammarella, Francesca Calandriello, Sara Temofonte, Marina Goldoni, Ilaria Macchiarulo, Paolo Versacci, Antonio Pizzuti, Jessica Petrilli, Carlo Di Brina, Barbara Caravale
Publikováno v:
Global Pediatrics, Vol 9, Iss , Pp 100179- (2024)
Objective: UPD(16)mat is a rare genetic condition characterized by intrauterine growth deficiency and multiple congenital malformations. To the best of our knowledge, neurodevelopmental disorders have never been described in association with UPD(16)m
Externí odkaz:
https://doaj.org/article/f47c47c4352a428688d23e8224e897d7
Autor:
Daniele Guadagnolo, Gioia Mastromoro, Barbara Torres, Enrica Marchionni, Francesca di Palma, Marina Goldoni, Dario Cocciadiferro, Antonio Novelli, Laura Bernardini, Antonio Pizzuti
Publikováno v:
Genes, Vol 14, Iss 12, p 2157 (2023)
Chromosomal submicroscopic imbalances represent well-known causes of neurodevelopmental disorders. In some cases, these can cause specific autosomal dominant syndromes, with high-to-complete penetrance and de novo occurrence of the variant. In other
Externí odkaz:
https://doaj.org/article/06e6ae9c205f472abaa095694479a332
Autor:
Maria Luce Genovesi, Barbara Torres, Marina Goldoni, Eliana Salvo, Claudia Cesario, Massimo Majolo, Tommaso Mazza, Carmelo Piscopo, Laura Bernardini
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. FBN1, FBN2, and FBN3 encode the human fibrillins and mutations in FBN1 and FBN2 cause connective tissue disorders called fibrillinopathies, affecting cardiovascul
Externí odkaz:
https://doaj.org/article/9f76a4111751483788812d8a8a0d5c14
Autor:
Aurora Arghir, Sorina Mihaela Papuc, Andreea‐Cristina Tutulan‐Cunita, Alina Erbescu, Sara Loddo, Silvia Genovese, Laura Ciocca, Marina Goldoni, Carmelo Piscopo, Laura Bernardini, Antonio Novelli, Magdalena Budisteanu
Publikováno v:
Clinical Case Reports, Vol 9, Iss 1, Pp 314-321 (2021)
Abstract Interstitial 8p deletions were previously described, in literature and databases, in approximately 30 patients with neurodevelopmental disorders. We report on a novel patient with a 8p21.2p11.21 deletion presenting a clinical phenotype that
Externí odkaz:
https://doaj.org/article/b65e0d882c1745e7bb63a0a7916a67a4
Autor:
Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, Camilla Savio, Claudia De Vitis, Simona Petrucci, Valentina Salvati, Marina Goldoni, Marco Fabiani, Alvaro Mesoraca, Caterina Micolonghi, Barbara Torres, Annalisa Piccinetti, Roberto Pippi, Rita Mancini
Publikováno v:
Diagnostics, Vol 12, Iss 12, p 2997 (2022)
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare co
Externí odkaz:
https://doaj.org/article/15c58530b7d845daac9b955e8b259946
Autor:
Maria Grazia Giuffrida, Marina Goldoni, Maria Luce Genovesi, Giovanna Carpentieri, Barbara Torres, Anca Daniela Deac, Serena Cecchetti, Anna Martinelli, Alessandro Vaisfeld, Elisabetta Flex, Laura Bernardini
Publikováno v:
Diagnostics, Vol 12, Iss 10, p 2354 (2022)
NONO (Non-Pou Domain-Containing Octamer-Binding Protein) gene maps on chromosome Xq13.1 and hemizygous loss-of-function nucleotide variants are associated with an emerging syndromic form of intellectual developmental disorder (MRXS34; MIM #300967), c
Externí odkaz:
https://doaj.org/article/566bf27df2ff401b80fe9b0f7f2ca8dd
Autor:
Mario Brinciotti, Francesca Fioriello, Antonio Mittica, Laura Bernardini, Marina Goldoni, Maria Matricardi
Publikováno v:
Epilepsy and Behavior Case Reports, Vol 11, Iss , Pp 31-34 (2019)
The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.31 microduplication associated with different forms of epilepsy and epileptiform EEG abnormalities. The proband
Externí odkaz:
https://doaj.org/article/f494eeb61e094218ac7f5efe1be05183
Autor:
Elisa Maria Turco, Ersilia Vinci, Filomena Altieri, Daniela Ferrari, Barbara Torres, Marina Goldoni, Giuseppe Lamorte, Ada Maria Tata, Gianluigi Mazzoccoli, Diana Postorivo, Matteo Della Monica, Laura Bernardini, Angelo Luigi Vescovi, Jessica Rosati
Publikováno v:
Stem Cell Research, Vol 32, Iss , Pp 73-77 (2018)
CHRNA7, encoding the neuronal alpha7 nicotinic acetylcholine receptor (a7nAChR), is highly expressed in the brain, particularly in the hippocampus. It is situated in the 15q13.3 chromosome region, frequently associated with a Copy Number Variation (C
Externí odkaz:
https://doaj.org/article/2be36cd9f65f42a4812c977fa079ede6
Autor:
Angela D'Anzi, Filomena Altieri, Elisa Perciballi, Daniela Ferrari, Laura Bernardini, Marina Goldoni, Letizia Mazzini, Fabiola De Marchi, Alice Di Pierro, Sandra D'Alfonso, Maurizio Gelati, Angelo Luigi Vescovi, Jessica Rosati
Publikováno v:
Stem Cell Research, Vol 47, Iss , Pp 101924- (2020)
Among the known causative genes of familial ALS, SOD1 mutation is one of the most common. It encodes for the ubiquitous detoxifying copper/zinc binding SOD1 enzyme, whose mutations selectively cause motor neuron death, although the mechanisms are not
Externí odkaz:
https://doaj.org/article/53fff5b45f3e4e968a42757457435ca7
Autor:
Eris Bidollari, Giovannina Rotundo, Filomena Altieri, Mariangela Amicucci, Daniele Wiquel, Daniela Ferrari, Marina Goldoni, Laura Bernardini, Federica Consoli, Alessandro De Luca, Sergio Fanelli, Giuseppe Lamorte, Leonardo D'Agruma, Angelo Luigi Vescovi, Ferdinando Squitieri, Jessica Rosati
Publikováno v:
Stem Cell Research, Vol 40, Iss , Pp - (2019)
Dentato-Rubral-pallidoluysian atrophy (DRPLA) is a rare autosomal, dominant, progressive neurodegenerative disease that causes involuntary movements, mental and emotional problems. DRPLA is caused by a mutation in the ATN1 gene that encodes for an ab
Externí odkaz:
https://doaj.org/article/889f68d9edda468683d217410dde637f