Zobrazeno 1 - 10
of 356
pro vyhledávání: '"Tappino B"'
Autor:
Pession, A., Di Rocco, M., Venturelli, F., Tappino, B., Morello, W., Santoro, N., Giordano, P., Filippini, B., Rinieri, S., Russo, G., Girardi, K., Ruggiero, A., Galea, E., Antonucci, R., Tovaglieri, N., Porta, F., Tartaglione, I., Giona, F., Fagioli, F., Burlina, A., Mura, R., Russo, B., Tornesello, A., Menna, G., Russo, D., Caniglia, M., Schettini, S., Onofrillo, D., Ladogana, S., Civino, A.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4731::d2dcd429445fba4b77624133db46bcad
https://hdl.handle.net/20.500.11769/565589
https://hdl.handle.net/20.500.11769/565589
Autor:
Moroni A; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: alice.moroni@ior.it., Brizola E; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: evelise.brizola@ior.it., Di Cecco A; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: alessia.dicecco@ior.it., Tremosini M; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: morena.tremosini@ior.it., Sergiampietri M; Maxillo Facial Surgery Unit, CHIRMED Department, University of Catania, AOU Policlinico San Marco, Catania, Italy. Electronic address: m.sergiampietri@policlinico.unict.it., Bianchi A; Maxillo Facial Surgery Unit, CHIRMED Department, University of Catania, AOU Policlinico San Marco, Catania, Italy; Department of General Surgery and Medical-Surgical Specialties, University of Catania, 95124 Catania, Italy. Electronic address: alberto.bianchi@unict.it., Tappino B; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy. Electronic address: barbaratappino@gaslini.org., Piana M; U.O.C. Anatomia Patologica II, Dipartimento di Diagnostica delle Immagini e di Laboratorio, A.O.U. Policlinico - San Marco, Catania, Italy. Electronic address: maria.piana@virgilio.it., Gnoli M; Department of Rare Skeletal Disorders, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy. Electronic address: maria.gnoli@ior.it.
Publikováno v:
European journal of medical genetics [Eur J Med Genet] 2024 Feb; Vol. 67, pp. 104904. Date of Electronic Publication: 2023 Dec 22.
Autor:
Crocco M; Pediatric Gastroenterology and Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy., Malerba F; Pediatric Gastroenterology and Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy., Calvi A; Pediatric Gastroenterology and Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Zampatti N; Pediatric Gastroenterology and Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genova, Genoa, Italy., Gandullia P; Pediatric Gastroenterology and Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Madeo A; Pediatric Gastroenterology and Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Tappino B; Laboratory for the Study of Inborn Errors of Metabolism (LABSIEM), IRCCS Istituto Giannina Gaslini, Genova, Italy., Proietti S; Unit of Clinical and Molecular Epidemiology, IRCCS San Raffaele Pisana, Rome, Italy.; Department of Human Sciences and Quality of Life Promotion, San Raffaele University, Rome, Italy., Bonassi S; Unit of Clinical and Molecular Epidemiology, IRCCS San Raffaele Pisana, Rome, Italy.; Department of Human Sciences and Quality of Life Promotion, San Raffaele University, Rome, Italy.
Publikováno v:
Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2024 Jan; Vol. 78 (1), pp. 105-112. Date of Electronic Publication: 2023 Dec 11.
Autor:
Motta I, Consonni D, Stroppiano M, Benedetto C, Cassinerio E, Tappino B, Ranalli P, Borin L, Facchini L, Patriarca A, Barcellini W, Lanza F, Filocamo M, Cappellini MD, Farina F, Codeluppi K, Rivolti E, Simonetti F, Lunghi F, Perrone T, Sgherza N, Carrai V, Cafro AM, Cairoli R, Amendola A, Trabacchi E, Vallisa D, Burgo I, Federici AB, Carbone C, D’Adda M, Mannina D, Di Giacomo V, Lupparelli G, Lombardo A.
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-6 (2021)
Scientific Reports
Scientific Reports
Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. However, GD1 is mainly underdiagnosed because of a lack of awareness. In this multicenter study,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d791cfff207b7aa94807798d7dba5dca
https://doi.org/10.1038/s41598-021-82296-z
https://doi.org/10.1038/s41598-021-82296-z
Autor:
Pession A; Pediatric Unit, S. Orsola - Malpighi Clinic, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Giuseppe Massarenti 9, 40138, Bologna, Italy., Di Rocco M; Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy., Venturelli F; Pediatric Unit, S. Orsola - Malpighi Clinic, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Via Giuseppe Massarenti 9, 40138, Bologna, Italy. francesco.venturelli3@gmail.com., Tappino B; Unit of Rare Diseases, Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy., Morello W; Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico Di Milano, Milan, Italy., Santoro N; Paediatric Oncology Department, Bari Policlinico General Hospital, Bari, Italy., Giordano P; Interdisciplinary Department of Medicine, Aldo Moro University, Bari, Italy., Filippini B; SSD Oncoematologia Pediatrica U.O. Pediatria, Dipartimento Salute, Donna, Infanzia e Adolescenza Ospedale Infermi Rimini, Rimini, Italy., Rinieri S; Pediatric Onco-Hematology Unit, Azienda Ospedaliero-Universitaria Sant'Anna di Ferrara, Ferrara, Italy., Russo G; Department of Clinical and Experimental Medicine, Paediatric Oncohematology Unit, University of Catania Medical School, 95122, Catania, Italy., Girardi K; Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio, 4, 00165, Rome, Italy., Ruggiero A; Pediatric Oncology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica Sacro Cuore, 00168, Rome, Italy., Galea E; Department of Pediatric Onco-Hematology, Pugliese Ciaccio Hospital, Catanzaro, Italy., Antonucci R; Pediatric Clinic, Department of Medical, Surgical and Experimental Sciences, University of Sassari, Sassari, Italy., Tovaglieri N; Department of Pediatrics, Niguarda Hospital, Milan, Italy., Porta F; Children Hospital, Brescia, Italy., Tartaglione I; Pediatric Hematology Unit, Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania, Naples, Italy., Giona F; Hematology, Department of Translational and Precision Medicine, Sapienza University of Rome, AOU Policlinico Umberto I, Rome, Italy., Fagioli F; Department of Public Health and Paediatrics, Regina Margherita Children's Hospital, University of Turin, Turin, TO, Italy., Burlina A; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, Department of Women's and Children's Health, University Hospital, Padua, Italy.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jun 16; Vol. 18 (1), pp. 151. Date of Electronic Publication: 2023 Jun 16.
Autor:
Aloi C; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Salina A; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Caroli F; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Bocciardi R; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16100 Genoa, Italy., Tappino B; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Bassi M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16100 Genoa, Italy.; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Minuto N; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., d'Annunzio G; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Maghnie M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16100 Genoa, Italy.; Department of Pediatrics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Publikováno v:
Life (Basel, Switzerland) [Life (Basel)] 2023 Apr 24; Vol. 13 (5). Date of Electronic Publication: 2023 Apr 24.
Autor:
Ognibene M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Scala M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, 16145 Genova, Italy., Iacomino M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Schiavetti I; Dipartimento di Scienze della Salute, Università di Genova, 16132 Genova, Italy., Madia F; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Traverso M; U.O.C. Neurologia Pediatrica e Malattie Muscolari, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Guerrisi S; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Di Duca M; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Caroli F; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Baldassari S; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Tappino B; LABSIEM (Laboratory for the Study of Inborn Errors of Metabolism), IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Romano F; U.O.C. Genomica e Genetica Clinica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Uva P; Unità di Bioinformatica Clinica, Direzione Scientifica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Vozzi D; Genomic Facility, Istituto Italiano di Tecnologia, 16163 Genova, Italy., Chelleri C; U.O.C. Neurologia Pediatrica e Malattie Muscolari, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Piatelli G; U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Diana MC; U.O.C. Neurologia Pediatrica e Malattie Muscolari, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Zara F; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Capra V; U.O.C. Genomica e Genetica Clinica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Pavanello M; U.O.C. Neurochirurgia, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., De Marco P; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
Publikováno v:
Cancers [Cancers (Basel)] 2023 Mar 22; Vol. 15 (6). Date of Electronic Publication: 2023 Mar 22.
Autor:
Furlan, F, Rovelli, A, Rigoldi, M, Filocamo, M, Tappino, B, Friday, D, Gasperini, S, Mariani, S, Izzi, C, Bondioni, MP, Gellera, C, Venerando, A, Villa, N, Del Carmen Rodriguez Perez, M, Pavan, F, Biondi, A, Parini, R
A new patient with severe mucopolysaccharidosis (MPS) type VII is reported. Non-immune hydrops fetalis (NIHF) was diagnosed during pregnancy. At birth, he showed generalized hydrops and dysmorphic features typical of MPS. Many diagnoses were excluded
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1299::e9dd85ec428d245bf15494caf2aaaf4d
http://hdl.handle.net/10281/226170
http://hdl.handle.net/10281/226170
Autor:
Coutinho, M. F., Encarnação, M., Gomes, R., da Silva Santos, L, Martins, S., Sirois-Gagnon, D., Bargal, R., Filocamo, M., Raas-Rothschild, A., Tappino, B., Laprise, C., Cury, G. K., Schwartz, I. V., Artigalás, O., Prata, M. J., Alves, S.
Publikováno v:
Clinical Genetics; Sep2011, Vol. 80 Issue 3, p273-280, 8p, 2 Diagrams, 1 Chart, 1 Graph
Autor:
Golshan-Tafti, Mohammad1 (AUTHOR), Dastgheib, Seyed Alireza2 (AUTHOR), Bahrami, Reza3 (AUTHOR) r.bahrami.neo@gmail.com, Yeganegi, Maryam4 (AUTHOR), Aghasipour, Maryam5 (AUTHOR), Marzbanrad, Zahra6 (AUTHOR), Saeida-Ardekani, Maryam7 (AUTHOR), Shahbazi, Amirhossein8 (AUTHOR), Omidi, Amirhossein9 (AUTHOR), Lookzadeh, Mohamad Hosein7 (AUTHOR), Mirjalili, Seyed Reza7 (AUTHOR), Noorishadkam, Mahmood7 (AUTHOR), Neamatzadeh, Hossein7 (AUTHOR)
Publikováno v:
Egyptian Journal of Medical Human Genetics. 10/16/2024, Vol. 25 Issue 1, p1-11. 11p.