Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Simona Costabel"'
Autor:
Raffaele Piumelli, Riccardo Davanzo, Niccolò Nassi, Silvia Salvatore, Cinzia Arzilli, Marta Peruzzi, Massimo Agosti, Antonella Palmieri, Maria Giovanna Paglietti, Luana Nosetti, Raffaele Pomo, Francesco De Luca, Alessandro Rimini, Salvatore De Masi, Simona Costabel, Valeria Cavarretta, Anna Cremante, Fabio Cardinale, Renato Cutrera
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-23 (2017)
Abstract Five years after the first edition, we have revised and updated the guidelines, re-examining the queries and relative recommendations, expanding the issues addressed with the introduction of a new entity, recently proposed by the American Ac
Externí odkaz:
https://doaj.org/article/1510c951c86d4c62a54e8d79ec98849d
Autor:
Fabio Cardinale, Francesco Letterio De Luca, Niccolò Nassi, Raffaele Pomo, Massimo Agosti, Antonella Palmieri, Raffaele Piumelli, Salvatore De Masi, Valeria Cavarretta, Alessandro Rimini, Luana Nosetti, Anna Cremante, Cinzia Arzilli, Riccardo Davanzo, Simona Costabel, Silvia Salvatore, Marta Peruzzi, Maria Giovanna Paglietti, Renato Cutrera
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-23 (2017)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Five years after the first edition, we have revised and updated the guidelines, re-examining the queries and relative recommendations, expanding the issues addressed with the introduction of a new entity, recently proposed by the American Academy of
Autor:
Chiara Aiello, Paola Ceriolo, Stefania Morasso, Simona Costabel, Francesco Ventura, Sergio Caglieris, Paolo Nozza, Ezio Fulcheri, Antonella Palmieri, Alberto Ferrando
Publikováno v:
Minerva pediatrica. 71(2)
The aim of this paper was to highlight the importance of a multidisciplinary and multiprofessional management of SIDS for a complete approach to this tragic event. Both biomedical and psychosocial aspects are evaluated, focusing on the impact of SIDS
Autor:
Maria Cristina Diana, Simona Costabel, Giancarlo Ottonello, Cesarina Savioli, Giovanna Villa, Pasquale DiPietro, Marco Gattorno
Publikováno v:
Pediatric Emergency Care. 22:35-37
We present a case of a 4-month-old girl referred to the emergency department with a provisional diagnosis of acute life-threatening event with a recent episode of heart block and a history of long-lasting fever. Soon after admission, the child sudden
Autor:
Giuseppe Losurdo, Elio Castagnola, Pasquale Di Pietro, Simona Costabel, Stefano Amato, Angelo Claudio Molinari, Marco Gattorno, Raffaella Giacchino, Andrea Rossi
Publikováno v:
Braindevelopment. 28(6)
Varicella-associated stroke has been reported with increasing frequency in recent years. In many cases, diagnosis is difficult because of the late onset of manifestations after the acute infectious episode. Four cases of cerebrovascular disease after
Autor:
Massimo Mazzella, Eugenio Bonioli, Nathalie Josso, Raoul C.M. Hennekam, Carla Enrica Marino, Paolo Tomà, Angela Rita Sementa, Corinne Belville, Carlo Bellini, Giovanni Serra, Simona Costabel
Publikováno v:
American Journal of Medical Genetics
American Journal of Medical Genetics, 2001, 104 (1), pp.69-74. ⟨10.1002/ajmg.1599⟩
American journal of medical genetics, 104(1), 69-74. Wiley-Liss Inc.
American Journal of Medical Genetics, Wiley, 2001, 104 (1), pp.69-74. ⟨10.1002/ajmg.1599⟩
American Journal of Medical Genetics, 2001, 104 (1), pp.69-74. ⟨10.1002/ajmg.1599⟩
American journal of medical genetics, 104(1), 69-74. Wiley-Liss Inc.
American Journal of Medical Genetics, Wiley, 2001, 104 (1), pp.69-74. ⟨10.1002/ajmg.1599⟩
We describe two newborn brothers with a pattern of malformation characterized by the persistence of Mullerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8e3c1f0a95537f196846c11e5588681
https://hal.science/hal-01930642
https://hal.science/hal-01930642
Autor:
Paola Origone, Elisabetta Panucci, Domenico A. Coviello, Simona Costabel, Franco Ajmar, Eugenio Bonioli
Department of Pediatrics, University of Genoa, ItalyType 1 neurofibromatosis (NF1) is an autosomal dominant disorder with an incidence of about 1 in 3500live births. Symptoms are highly variable from a few cafe`-au-lait spots and axillary freckling
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b91a38301c7b1c552e72b54452406b6f
http://hdl.handle.net/11567/194338
http://hdl.handle.net/11567/194338
Autor:
Simona Costabel, Carlo Bellini, Paola Origone, Alessandro De Luca, Rita Mingarelli, Carmen La Rosa, Domenico A. Coviello, Eugenio Bonioli, Cecilia Garrè, Anna Buccino, Franco Ajmar, Bruno Dallapiccola
Publikováno v:
Human Mutation. 20:74-75
The entire NF1 coding region was analyzed for mutations in a panel of 108 unrelated Italian NF1 patients. Using PTT, SSCP, and DNA sequencing, we found 10 mutations which have never been reported before. Clinical diagnosis of NF1 was established acco