Zobrazeno 1 - 10
of 63
pro vyhledávání: '"Veronica Bertini"'
Autor:
Marly Simoncini, Miriam Violi, Angelo Valetto, Veronica Bertini, Francy Cruz-Sanabria, Leonardo Massoni, Liliana Dell’Osso, Claudia Carmassi
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
Autism spectrum disorder (ASD) is characterized by multifactorial etiology and high heritability but can be challenging to be diagnosed, especially in cases presenting subthreshold symptoms with no cognitive or language impairment, which may not be i
Externí odkaz:
https://doaj.org/article/94a5152370b3466eb9cd06ec9ca6c240
Autor:
Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto, Carlo Foresta
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Abstract Background Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations inc
Externí odkaz:
https://doaj.org/article/ec0418864d154a54a64a749b4eca1e68
Autor:
Francesca Forli, Silvia Capobianco, Stefano Berrettini, Luca Bruschini, Silvia Romano, Antonella Fogli, Veronica Bertini, Francesco Lazzerini
Publikováno v:
Medicina, Vol 59, Iss 2, p 352 (2023)
Background and objectives: Otoferlin is a multi-C2 domain protein implicated in neurotransmitter-containing vesicle release and replenishment of the cochlear inner hair cell (IHC) synapses. Mutations in the OTOF gene have been associated with two dif
Externí odkaz:
https://doaj.org/article/108e00f1849344719210f179399e76c5
Autor:
Paolo Aretini, Chiara Maria Mazzanti, Marco La Ferla, Sara Franceschi, Francesca Lessi, Veronica De Gregorio, Claudia Nesti, Angelo Valetto, Veronica Bertini, Benedetta Toschi, Roberta Battini, Maria Adelaide Caligo
Publikováno v:
BMC Neurology, Vol 18, Iss 1, Pp 1-6 (2018)
Abstract Background Leigh Syndrome (LS, OMIM 256000) is an early-onset, progressive neurodegenerative disorder characterized by broad clinical and genetic heterogeneity; it is the most frequent disorder of mitochondrial energy production in children.
Externí odkaz:
https://doaj.org/article/e0bb8b89d7694c70a8be045e27a4eb5e
Autor:
Simone Gana, Angelo Valetto, Benedetta Toschi, Irene Sardelli, Susanna Cappelli, Diego Peroni, Veronica Bertini
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a combination of facial dysmorphisms, ear abnormalities with hearing loss, and shoulder gird
Externí odkaz:
https://doaj.org/article/55626ba83c134111bcf48a780a7aa154
Autor:
Rossella Bruno, Angelo Valetto, Veronica Bertini, Cinzia Cosini, Benedetta Toschi, Caterina Congregati, Simona Rossi, Paolo Simi
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 54, Iss 3, Pp 326-329 (2015)
Externí odkaz:
https://doaj.org/article/98bd40cb813d49fcbb8776d38d6cc5ec
Autor:
Angelo Valetto, Veronica Bertini, Alessia Azzarà, Annalisa Legitimo, Roberta Milone, Roberta Battini, Rita Consolini
Publikováno v:
Frontiers in Genetics, Vol 8 (2017)
In humans, the most common genomic disorder is the hemizygous deletion of the chromosome 22q11.2 region, that results in the “22q11.2 deletion syndrome” (22q11.2DS). A peculiarity of 22q11.2DS is its great phenotypic variability that makes this p
Externí odkaz:
https://doaj.org/article/d61eaa3818f14498bf7454b51c6c56e5
Autor:
Gianluigi Laccetta, Benedetta Toschi, Antonella Fogli, Veronica Bertini, Angelo Valetto, Rita Consolini
Publikováno v:
Case Reports in Pediatrics, Vol 2015 (2015)
We report a case of DiGeorge-like syndrome in which immunodeficiency coexisting with juvenile idiopathic arthritis, congenital heart disease, delay in emergence of language and in motor milestones, feeding and growing problems, enamel hypoplasia, mil
Externí odkaz:
https://doaj.org/article/ab11347bab76415f82ba3e719ddf30d2
Autor:
Massimo, Pifferi, Attilio L, Boner, Serena, Gracci, Rossella, Fonnesu, Debora, Maj, Gabriele, Donzelli, Angela, Michelucci, Angela, Cangiotti, Veronica, Bertini, Angelo, Valetto, Maria Adelaide, Caligo, Mario, Miccoli, Diego, Peroni, Andrew, Bush
Publikováno v:
Chest. 162:1265-1276
We hypothesized that differences in nasal nitric oxide (nNO) and fractional exhaled nitric oxide (Feno) relate to prognosis in primary ciliary dyskinesia (PCD).What is the relationship between baseline values and longitudinal evolution of nNO and Fen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd22129e7c02010709cb14afa0b59e34
https://doi.org/10.1016/j.chest.2022.06.019
https://doi.org/10.1016/j.chest.2022.06.019
Autor:
Veronica, Bertini, Francesca, Cambi, Alessandro, Orsini, Alice, Bonuccelli, Aureliano, Fiorini, Andrea, Santangelo, Massimo, Scacciati, Maurizio, Elia, Ornella, Galesi, Diego, Peroni, Angelo, Valetto
Publikováno v:
Genes. 13(12)
The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bfb05eb83cd2876ef73abb36a582b002
https://pubmed.ncbi.nlm.nih.gov/36553517
https://pubmed.ncbi.nlm.nih.gov/36553517