Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Giulia Rosti"'
Autor:
Giuseppa Patti, Marco Scaglione, Nadia Gabriella Maiorano, Giulia Rosti, Maria Teresa Divizia, Tiziana Camia, Elena Lucia De Rose, Alice Zucconi, Emilio Casalini, Flavia Napoli, Natascia Di Iorgi, Mohamad Maghnie
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
BackgroundNoonan syndrome (NS) is a genetic multisystem disorder characterised by variable clinical manifestations including dysmorphic facial features, short stature, congenital heart disease, renal anomalies, lymphatic malformations, chest deformit
Externí odkaz:
https://doaj.org/article/72330c4209af431b938af2d047b796b9
Autor:
Federica Ruscitti, Paola Origone, Giulia Rosti, Lucia Trevisan, Roberta Marchese, Andrea Brugnolo, Federico Massa, Paola Castellini, Paola Mandich
Publikováno v:
Clinical Case Reports, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Chorea, cognitive decline, and psychiatric symptoms are shared by Huntington’s disease (HD) and similar conditions called HD phenocopies. We describe the first case reported in Italy of Huntington disease‐like 2 (HDL2), clinically and ra
Externí odkaz:
https://doaj.org/article/bbb7404b38eb4151848fd4f486bc6ed2
Autor:
Martina Servetti, Livia Pisciotta, Elisa Tassano, Maria Cerminara, Lino Nobili, Silvia Boeri, Giulia Rosti, Margherita Lerone, Maria Teresa Divizia, Patrizia Ronchetto, Aldamaria Puliti
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Neurodevelopmental disorders (NDDs) are a heterogeneous class of brain diseases, with a complex genetic basis estimated to account for up to 50% of cases. Nevertheless, genetic diagnostic yield is about 20%. Array-comparative genomic hybridization (a
Externí odkaz:
https://doaj.org/article/8f1a6c9e149a419fa9a29b5043a7dff9
Autor:
Federica Ruscitti, Lucia Trevisan, Giulia Rosti, Fabio Gotta, Annalia Cianflone, Alessandro Geroldi, Paola Origone, Anna Pichiecchio, Simona Viglio, Maria Iascone, Paola Mandich
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Background Vascular Ehlers–Danlos syndrome (vEDS) is a heritable connective tissue disorder caused by defects in the type III collagen protein. It is generally considered the most severe form of Ehlers–Danlos syndrome (EDS) due to an inc
Externí odkaz:
https://doaj.org/article/a99c5fcb34744210b551b9bbcb913e1a
Autor:
Giulia Rosti, Gregorio P. Milani, Emanuela A. Laicini, Emilio F. Fossali, Mario G. Bianchetti
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-4 (2017)
Abstract Background Henoch-Schönlein syndrome is a systemic small-vessel leukocytoclastic vasculitis that usually present with cutaneous, gastrointestinal, articular and renal manifestations. Little is known on liver involvement in this syndrome. Th
Externí odkaz:
https://doaj.org/article/bcbc673c40484f5caaf7764e747d836c
Autor:
Federica Ruscitti, Maria Cerminara, Maria Iascone, Laura Pezzoli, Giulia Rosti, Ferruccio Romano, Patrizia Ronchetto, Giuseppe Martucciello, Silvia Buratti, Francesca Buffelli, Renata Bocciardi, Aldamaria Puliti, Maria Teresa Divizia
Publikováno v:
Birth Defects Research. 114:674-681
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c68831b23f42722af8e2d16d3a471ead
https://doi.org/10.1002/bdr2.2065
https://doi.org/10.1002/bdr2.2065
Autor:
Paola Origone, Federica Ruscitti, Giulia Rosti, Annalia Cianflone, Paola Mandich, Anna Pichiecchio, Simona Viglio, Maria Iascone, Fabio Gotta, Lucia Trevisan, Alessandro Geroldi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Vascular Ehlers–Danlos syndrome (vEDS) is a heritable connective tissue disorder caused by defects in the type III collagen protein. It is generally considered the most severe form of Ehlers–Danlos syndrome (EDS) due to an increased ri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d8c4685f496f3f95fe8343f7d61beb1
https://doi.org/10.1002/mgg3.1753
https://doi.org/10.1002/mgg3.1753
Autor:
Livia Pisciotta, Aldamaria Puliti, Edvige Veneselli, Simone Bossi, Patrizia Ronchetto, Margherita Lerone, Maria Margherita Mancardi, Maria Teresa Divizia, Elisa Tassano, Martina Servetti, Giulia Rosti
Publikováno v:
European journal of medical genetics. 62(9)
The KCNQ5 gene, widely expressed in the brain, encodes a voltage-gated potassium channel (Kv7.5) important for neuronal function. Here, we report a novel KCNQ5 intragenic duplication at 6q13 spanning about 239 Kb of genomic DNA, identified by array c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::459dbbb11675ce1c3797e99527f43d7a
https://pubmed.ncbi.nlm.nih.gov/30359776
https://pubmed.ncbi.nlm.nih.gov/30359776