Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Giacomo Sperti"'
Autor:
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and
Externí odkaz:
https://doaj.org/article/ba10327d06cc4e8da9702f9d1003ec3b
Autor:
Giuseppe Ramacieri, Chiara Locatelli, Michela Semprini, Maria Chiara Pelleri, Maria Caracausi, Allison Piovesan, Michela Cicilloni, Marco Vigna, Lorenza Vitale, Giacomo Sperti, Luigi Tommaso Corvaglia, Gian Luca Pirazzoli, Pierluigi Strippoli, Francesca Catapano, Beatrice Vione, Francesca Antonaros
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionTrisomy 21 (T21), which causes Down syndrome (DS), is the most common chromosomal aneuploidy in humankind and includes different clinical comorbidities, among which the alteration of the immune system has a heavy impact on patient’s liv
Externí odkaz:
https://doaj.org/article/acaefbf9e70c4e4888c6b1ffc06802dc
Autor:
Caterina Gori, Guido Cocchi, Luigi Tommaso Corvaglia, Giuseppe Ramacieri, Francesca Pulina, Giacomo Sperti, Valeria Cagnazzo, Francesca Catapano, Pierluigi Strippoli, Duccio Maria Cordelli, Chiara Locatelli
Publikováno v:
Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-8 (2023)
Abstract Communicating the diagnosis of Down Syndrome to a couple of parents is never easy, whether before or after birth. As doctors, we must certainly rely on our own relational skills, but it is also necessary to be confident in some general indic
Externí odkaz:
https://doaj.org/article/239e70f4b5dd45c8b33ea0e88eb23a8c
Autor:
Anna Fetta, Veronica Di Pisa, Martina Ruscelli, Luca Soliani, Giacomo Sperti, Sara Ubertiello, Emilia Ricci, Greta Mainieri, Alessandro Rocca, Maria Margherita Mancardi, Lucio Giordano, Dario Pruna, Aglaia Vignoli, Federica Provini, Duccio Maria Cordelli
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objectives: Pallister-Killian syndrome (PKS) is a rare genetic disorder with multi-organ involvement caused by mosaic tetrasomy of chromosome 12p. Although many caregivers report the presence of impaired sleep in their children, there are no clear da
Externí odkaz:
https://doaj.org/article/c7aa461ce9e34d59958085918137d5d6
Autor:
Chiara Locatelli, Sara Onnivello, Francesca Antonaros, Agnese Feliciello, Sonia Filoni, Sara Rossi, Francesca Pulina, Chiara Marcolin, Renzo Vianello, Enrico Toffalini, Giuseppe Ramacieri, Anna Martelli, Giulia Procaccini, Giacomo Sperti, Maria Caracausi, Maria Chiara Pelleri, Lorenza Vitale, Gian Luca Pirazzoli, Pierluigi Strippoli, Guido Cocchi, Allison Piovesan, Silvia Lanfranchi
Publikováno v:
Brain Sciences, Vol 11, Iss 5, p 655 (2021)
Down Syndrome (DS) is the most common genetic alteration responsible for intellectual disability, which refers to deficits in both intellectual and adaptive functioning. According to this, individuals with Down Syndrome (DS) reach developmental miles
Externí odkaz:
https://doaj.org/article/4b231025c38c49779ef030c232998add
Autor:
Arianna Dondi, Giacomo Sperti, Davide Gori, Federica Guaraldi, Marco Montalti, Lorenza Parini, Bianca Maria Piraccini, Marcello Lanari, Iria Neri
Publikováno v:
European journal of pediatrics. 181(10)
COVID-19 can present with a range of skin manifestations, some of which specific of the pediatric age. The aim of this systematic literature review was to determine the type, prevalence, time of onset, and evolution of cutaneous manifestations associ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3259636a22fc569537a08f04ac12bda8
https://pubmed.ncbi.nlm.nih.gov/35948654
https://pubmed.ncbi.nlm.nih.gov/35948654
Autor:
Arianna Dondi, Giacomo Sperti, Davide Gori, Marco Montalti, Lorenza Parini, Federica Guaraldi, Marcello Lanari, Iria Neri
COVID-19 disease can give a range of skin manifestations, some of which specific to children and young patients. Given the different nature of the lesions in specific stages of the disease and the fact that they may be the only or predominant symptom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7e69b6c688c8977fbeadb8c8aea2cb67
https://doi.org/10.1101/2022.03.04.22271888
https://doi.org/10.1101/2022.03.04.22271888
Autor:
Allison Piovesan, Silvia Lanfranchi, Chiara Marcolin, Gian Luca Pirazzoli, Francesca Pulina, Maria Chiara Pelleri, Chiara Locatelli, Giacomo Sperti, Sara Rossi, Giuseppe Ramacieri, Agnese Feliciello, Giulia Procaccini, Anna Martelli, Maria Caracausi, Renzo Vianello, Sonia Filoni, Lorenza Vitale, Guido Cocchi, Enrico Toffalini, Francesca Antonaros, Sara Onnivello, Pierluigi Strippoli
Publikováno v:
Brain Sciences
Brain Sciences; Volume 11; Issue 5; Pages: 655
Brain Sciences, Vol 11, Iss 655, p 655 (2021)
Brain Sciences; Volume 11; Issue 5; Pages: 655
Brain Sciences, Vol 11, Iss 655, p 655 (2021)
Down Syndrome (DS) is the most common genetic alteration responsible for intellectual disability, which refers to deficits in both intellectual and adaptive functioning. According to this, individuals with Down Syndrome (DS) reach developmental miles
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7979829ca9737b2b64e4c8cfafb3484
https://pubmed.ncbi.nlm.nih.gov/34069813
https://pubmed.ncbi.nlm.nih.gov/34069813
Autor:
Guido Cocchi, R Gupta, Deborah McEldrew, E Salzano, Giacomo Sperti, Alessandro Rocca, Kosuke Izumi, Ian D. Krantz, Maninder Kaur, Alisha Wilkens, RK Tilton, Angelo Selicorni, Laura K. Conlin, LR Bettini, S Thakur, Sarah E. Raible
Publikováno v:
American Journal of Medical Genetics Part A. 176:2575-2586
Pallister-Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malfor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c89a740a8725568dbcb883b1ba887b33
https://doi.org/10.1002/ajmg.a.40499
https://doi.org/10.1002/ajmg.a.40499
Autor:
Duccio Maria Cordelli, Alessandro Rocca, Emilia Ricci, Giacomo Sperti, Rocco Bonfatti, Guido Cocchi, Valeria Cagnazzo, Aglaia Vignoli
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 23(4)
Introduction Pallister-Killian Syndrome (PKS) (OMIM # 601803 ) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. Epilepsy is a frequent concern in PKS patients. Methods we report 3 PKS patients, with early-ons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d66ac57d1fb503fbbb93c9c87841c09
https://pubmed.ncbi.nlm.nih.gov/31178275
https://pubmed.ncbi.nlm.nih.gov/31178275